MCID: PHN003
MIFTS: 68

Phenylketonuria malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Phenylketonuria

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Aliases & Descriptions for Phenylketonuria:

Name: Phenylketonuria 49 32 10 11 68 45 22 23 12 51 67 35
Pku 10 68 45 22 23 51 67
Phenylalanine Hydroxylase Deficiency 21 45 22 51
Folling Disease 68 45 22 23
Pah Deficiency 21 22 23 51
Phenylketonurias 36 24 65
Deficiency Disease, Phenylalanine Hydroxylase 68 23
Phenylalanine Hydroxylase Deficiency Disease 68 23
Phenylketonuria, Maternal 36 65
Classical Phenylketonuria 68 65
Maternal Phenylketonuria 10 51
Idiopathic Pulmonary Arterial Hypertension 65
Non-Phenylketonuria Hyperphenylalaninemia 67
Hyperphenylalaninemic Embryopathy 51
Maternal Hyperphenylalaninemia 51
 
Phenylketonuric Embryopathy 51
Oligophrenia Phenylpyruvica 45
Phenylketonuria Classical 47
Phenylketonuria Maternal 47
Classic Phenylketonuria 51
Hyperphenylalaninaemia 65
Hyperphenylalaninemia 67
Følling's Disease 10
Folling's Disease 23
Phenylalaninemia 10
Maternal Pku 51
Classic Pku 51
Non-Pku Hpa 67
Hpa 67

Characteristics:

Orphanet epidemiological data:

51
phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-5/10000 (Ireland),1-9/1000000 (Finland),1-5/10000 (Turkey); Age of onset: Infancy; Age of death: normal life expectancy
maternal phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal
classic phenylketonuria:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
phenylketonuria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 261600
Disease Ontology10 DOID:9281
ICD9CM29 270.1
NCIt42 C81315
Orphanet51 716, 2209, 79254
ICD10 via Orphanet28 E70.0, E70.1
MESH via Orphanet37 D010661
UMLS via Orphanet66 C0031485, C0085547, C0751434
ICD1027 E70.0
UMLS65 C0031485, C0085547, C0751434 C3203102, C0751435, more

Summaries for Phenylketonuria

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NIH Rare Diseases:45 Phenylketonuria (pku) is an inherited disorder that increases the levels of phenylalanine in the blood. phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. if pku is not treated, phenylalanine can build up to harmful levels in the body. the signs and symptoms of pku vary from mild to severe. the most severe form of this disorder is known as classic pku. without treatment, these children develop permanent intellectual disability. light skin and hair, seizures, delayed development, behavioral problems, and psychiatric disorders are also common. less severe forms of this condition, sometimes called variant pku and non-pku hyperphenylalaninemia, have a smaller risk of brain damage. babies born to mothers with pku and women who no longer follow a low-phenylalanine diet have a risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. pku is caused by changes (mutations ) in the pah gene. it is inherited in an autosomal recessive manner. because pku can be detected by a simple blood test and is treatable, newborn screening is available for this disorder. the best treatment for pku is a diet of low-protein foods. last updated: 12/28/2015

MalaCards based summary: Phenylketonuria, also known as pku, is related to pseudohypoparathyroidism and meningococcemia, and has symptoms including aminoaciduria, hypopigmentation of hair and abnormal hair quantity. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Amine-derived hormones. Affiliated tissues include testes, brain and skin, and related mouse phenotypes are integument and homeostasis/metabolism.

Disease Ontology:10 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

UniProtKB/Swiss-Prot:67 Hyperphenylalaninemia: Mildest form of phenylalanine hydroxylase deficiency. Non-phenylketonuria hyperphenylalaninemia: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Phenylketonuria: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.

MedlinePlus:35 Phenylketonuria (pku) is a genetic disorder in which the body can't process part of a protein called phenylalanine (phe). phe is in almost all foods. if the phe level gets too high, it can damage the brain and cause severe intellectual disability. all babies born in u.s. hospitals must now have a screening test for pku. this makes it easier to diagnose and treat the problem early. the best treatment for pku is a diet of low-protein foods. there are special formulas for newborns. for older children and adults, the diet includes many fruits and vegetables. it also includes some low-protein breads, pastas and cereals. nutritional formulas provide the vitamins and minerals they can't get from their food. babies who get on this special diet soon after they are born develop normally. many have no symptoms of pku. it is important that they stay on the diet for the rest of their lives. nih: national institute of child health and human development

Genetics Home Reference:23 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

OMIM:49 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine... (261600) more...

Wikipedia:68 Phenylketonuria (PKU)[help 1] is an inborn error of metabolism involving impaired metabolism of the... more...

GeneReviews summary for NBK1504

Related Diseases for Phenylketonuria

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Diseases related to Phenylketonuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 553)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohypoparathyroidism30.3FARSA, G6PD
2meningococcemia30.1G6PD, TTR
3eosinophilic pneumonia29.6ALPP, BGLAP
4mild phenylketonuria12.6
5tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria12.3
6mild hyperphenylalaninemia11.7
7hyperphenylalaninemia, bh4-deficient, c11.5
8maternal hyperphenylalaninemia11.5
9hyperphenylalaninemia, bh4-deficient, b11.3
10hyperphenylalaninemia10.5
11microcephaly10.5
12breast cancer10.3
13pseudotyphus of california10.3PAH, PTS, QDPR
14purpura simplex10.3TH, TTR
15glycine encephalopathy10.3
16hyperphenylalaninemia, bh4-deficient, a10.3
17genetic brain disorders10.3
18leukemia10.3
19guizar vasquez sanchez manzano syndrome10.3PTS, QDPR, TH
20chronic apical periodontitis10.3PAH, QDPR, TTR
21hepatitis10.3
22lymphoma10.3
23autoimmune polyendocrine syndrome type 210.2TH, TPH1
24prostatitis10.2
25perry syndrome10.2TH, TPH1
26fibrogenesis imperfecta ossium10.2ALPP, BGLAP
27sarcoma10.2
28endotheliitis10.2
29lingual goiter10.2ALPP, BGLAP
30diabetic angiopathy10.1ALPP, BGLAP
31bone diseases10.1PAH, PTS, QDPR, TH
32pseudopseudohypoparathyroidism10.1ALPP, BGLAP
33blood coagulation disease10.1ALPP, BGLAP
34arthritis10.1
35gastric cancer10.1
36melanoma10.1
37neuronitis10.1
38marcus gunn phenomenon10.1ALPP, BGLAP
39primary hyperparathyroidism10.1ALPP, BGLAP
40bone structure disease10.1ALPP, BGLAP
41rheumatoid arthritis10.1
42colorectal cancer10.1
43hepatitis c10.1
44adenocarcinoma10.1
45retinitis10.1
46tuberculosis10.1
47pancreatitis10.1
48neuropathy10.1
49leukodystrophy10.1ALPP, BGLAP
50aceruloplasminemia10.1ACADM, PAH, PTS

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Symptoms for Phenylketonuria

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Symptoms by clinical synopsis from OMIM:

261600

Clinical features from OMIM:

261600

Symptoms:

 51 (show all 25)
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased hair pigmentation/hypopigmentation of hair
  • abnormal odour of the urine
  • psychic/behavioural troubles
  • microcephaly
  • eczema
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • tremor
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • troubles of memory/amnesia/hypermnesia
  • hyperactivity/attention deficit
  • autism/autistic disoders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • cataract/lens opacification
  • tight skin/lack of elasticity
  • intracranial/cerebral calcifications
  • motor deficit/trouble
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • auto-aggressivity/auto-mutilation

HPO human phenotypes related to Phenylketonuria:

(show all 42)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 hypopigmentation of hair hallmark (90%) HP:0005599
3 abnormal hair quantity hallmark (90%) HP:0011362
4 cognitive impairment typical (50%) HP:0100543
5 microcephaly typical (50%) HP:0000252
6 autism typical (50%) HP:0000717
7 eczema typical (50%) HP:0000964
8 seizures typical (50%) HP:0001250
9 hypertonia typical (50%) HP:0001276
10 tremor typical (50%) HP:0001337
11 hyperreflexia typical (50%) HP:0001347
12 nausea and vomiting typical (50%) HP:0002017
13 memory impairment typical (50%) HP:0002354
14 attention deficit hyperactivity disorder typical (50%) HP:0007018
15 cataract occasional (7.5%) HP:0000518
16 cerebral calcification occasional (7.5%) HP:0002514
17 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
18 lack of skin elasticity occasional (7.5%) HP:0100679
19 self-injurious behavior occasional (7.5%) HP:0100716
20 maternal hyperphenylalaninemia HP:0100610
21 scleroderma HP:0100324
22 generalized hypopigmentation HP:0007513
23 attention deficit hyperactivity disorder HP:0007018
24 reduced phenylalanine hydroxylase activity HP:0005982
25 hyperphenylalaninemia HP:0004923
26 phenylpyruvic acidemia HP:0004920
27 cerebral calcification HP:0002514
28 fair hair HP:0002286
29 hyperreflexia HP:0001347
30 seizures HP:0001250
31 intellectual disability HP:0001249
32 eczema HP:0000964
33 dry skin HP:0000958
34 self-mutilation HP:0000742
35 anxiety HP:0000739
36 irritability HP:0000737
37 obsessive-compulsive behavior HP:0000722
38 aggressive behavior HP:0000718
39 psychosis HP:0000709
40 blue irides HP:0000635
41 cataract HP:0000518
42 microcephaly HP:0000252

Drugs & Therapeutics for Phenylketonuria

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Drugs for Phenylketonuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerapamilapprovedPhase 4, Phase 3, Phase 2, Phase 111752-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan Sr
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
KBio3_002823
KBioGR_000233
 
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SID104171262
SID124881789
SID124881790
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Hydrochloride
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan Pm
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
2
DopamineapprovedPhase 4308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
BenzocaineapprovedPhase 4, Phase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
4
Melatoninapproved, nutraceuticalPhase 423473-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
5Anti-Arrhythmia AgentsPhase 4, Phase 3, Phase 2, Phase 12371
6calcium channel blockersPhase 4, Phase 3, Phase 2, Phase 11743
7Calcium, DietaryPhase 4, Phase 3, Phase 2, Phase 14678
8Vasodilator AgentsPhase 4, Phase 3, Phase 2, Phase 12926
9Protective AgentsPhase 45651
10
SerotoninPhase 4314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
11Dopamine AgentsPhase 43084
12Central Nervous System DepressantsPhase 410016
13Pharmaceutical SolutionsPhase 47004
14AntioxidantsPhase 42442
15tannic acidNutraceuticalPhase 4, Phase 21684
16phenylalanineNutraceuticalPhase 4, Phase 3, Phase 2, Phase 1, Phase 0145
17DextransPhase 372
18Chelating AgentsPhase 2667
19CaseinsPhase 295
20Liver ExtractsPhase 1, Phase 23572
21
Moxifloxacinapproved, investigationalPhase 1409354812-41-2152946
Synonyms:
(1'S,6'S)-1-Cyclopropyl-7-(2,8-diazabicyclo[4.3.0]non-8-yl)-6-fluoro-8-methoxy-4-oxo-1,4-dihydroquinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-8-methoxy-7-((4aS,7aS)-octahydro-6H-pyrrolo(3,4-b)pyridin-6-yl)-4-oxo-3-quinolinecarboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-8-methoxy-7-((4as,7as)-octahydro-6H-pyrrolo(3,4-b)pyridin-6-yl)-4-oxo-3-quinolinecarboxylic acid
151096-09-2
186826-86-8
192927-63-2
7-[(4aS,7aS)-1,2,3,4,4a,5,7,7a-octahydropyrrolo[3,4-b]pyridin-6-yl]-1-cyclopropyl-6-fluoro-8-methoxy-4-oxoquinoline-3-carboxylic acid
AC1L49EP
Actira (*Hydrochloride*)
Avelox
Avelox (*Hydrochloride*)
Avelox I.V.
BAY 12-8039
BAY 12-8039 (*Hydrochloride*)
 
CCRIS 8690
CHEMBL32
CID152946
DB00218
I06-1961
LS-141510
MFX
MXF
MXFX
Moxeza
Moxifloxacin
Moxifloxacin Hydrochloride
Moxifloxacin [INN:BAN]
UNII-U188XYD42P
Vigamox
moxifloxacin
22
NorgestimateapprovedPhase 135135189-28-76540478
Synonyms:
(+)-13-Ethyl-17-hydroxy-18,19-dinor-17alpha-pregn-4-en-20-yn-3-one oxime acetate (ester)
(17-alpha)-17-(Acetyloxy)-13-ethyl-18,19-dinorpregn-4-en-20-yn-3-one 3-oxime
(17alpha)-17-(Acetyloxy)-13-ethyl-18,19-dinorpregn-4-en-20-yn-3-one 3-oxime
(3E)-17alpha-ethynyl-3-(hydroxyimino)-18a-homoestr-4-en-17beta-yl acetate
35189-28-7
AC-655
AC1O712U
C017576
CHEBI:50815
CHEMBL1200934
CID6540478
D 138
D-13beta-Ethyl-17alpha-ethynyl-17beta-acetoxygon-4-en-3-one oxime
D05209
DB00957
Dexnorgestrel Acetime
Dexnorgestrel acetime
I14-9729
 
LS-62080
NCGC00181353-01
NORGESTIMATE
Norgestimate (USP/INN)
Norgestimate [USAN:INN:BAN]
Norgestimato
Norgestimato [INN-Spanish]
Norgestimatum
Norgestimatum [INN-Latin]
ORF 10131
ORF-10131
Ortho-Prefest
RWJ 10131
RWJ-10131
UNII-C291HFX4DY
ZINC03938695
[(3E,8R,9S,10R,13S,14S,17R)-13-ethyl-17-ethynyl-3-hydroxyimino-1,2,6,7,8,9,10,11,12,14,15,16-dodecahydrocyclopenta[a]phenanthren-17-yl] acetate
d-13-beta-Ethyl-17-alpha-ethynyl-17-beta-acetoxygon-4-en-3-one oxime
d-13beta-Ethyl-17alpha-ethynyl-17beta-acetoxygon-4-en-3-one oxime
norgestrel oxime acetate
23
Ethinyl EstradiolapprovedPhase 165957-63-65991
Synonyms:
17 alpha-Ethinylestradiol
17 alpha-Ethynylestradiol
17 alpha-Ethynyloestradiol
17 alpha-ethinyestradiol
17-Ethinyl-3,17-estradiol
17-Ethinyl-3,17-oestradiol
17-Ethinylestradiol
17-Ethynylestradiol
17-Ethynylestradiol ram
17-Ethynyloestradiol
17-alpha-Ethinyl-17-beta-estradiol
17-alpha-Ethynyl-17-beta-oestradiol
17-alpha-Ethynylestradiol
17-alpha-Ethynylestradiol-17-beta
17-alpha-ethynyl estradiol
17-ethinyl-3,17-estradiol
17-ethinyl-3,17-oestradiol
17-ethinylestradiol
17.alpha.-Ethinyl-17.beta.-estradiol
17.alpha.-Ethinylestradiol
17.alpha.-Ethynyl-17.beta.-oestradiol
17.alpha.-Ethynylestradiol
17.alpha.-Ethynylestradiol-l7.beta.
17.alpha.-Ethynyloestradiol
17.alpha.-Ethynyloestradiol-17.beta.
17a-Ethinyl-17b-estradiol
17a-Ethinylestradiol
17a-Ethynyl-17b-oestradiol
17a-Ethynylestradiol
17a-Ethynylestradiol-l7b
17a-Ethynyloestradiol
17a-Ethynyloestradiol-17b
17alpha-Ethinyl estradiol
17alpha-Ethinylestradiol
17alpha-Ethinylestradiol-17beta
17alpha-Ethynylestradiol
17alpha-Ethynyloestradiol
17alpha-Ethynyloestradiol-17beta
17α-ethynylestradiol
406932-93-2
46263_FLUKA
46263_RIEDEL
57-63-6
77538-56-8
AC-2169
AC1L1LK6
AI3-52941
Aethinyloestradiolum
Aethinyoestradiol
Aethinyoestradiol [German]
Alora
Amenoron
Amenorone
Anovlar
BIDD:ER0162
BRN 2419975
Bio-0610
C07534
CCRIS 286
CHEBI:4903
CHEMBL691
CID5991
CPD000058319
Certostat
Chee-O-Gen
Chee-O-Genf
Cyclosa
D004997
D00554
DB00977
Dicromil
Diognat-E
Diogyn E
Diogyn-E
Diprol
Dyloform
E4876_SIGMA
EE
EE(sub 2)
EE2
EINECS 200-342-2
EO
ETHINYLESTRADIOL
Effik Brand of Ethinyl Estradiol
Ertonyl
Esclim
Esteed
Estigyn
Estinyl
Estinyl (TN)
Eston-E
Estopherol
Estoral
Estoral (Orion)
Estoral (VAN)
Estoral [Orion]
Estoral {[Orion]}
Estorals
Estradiol, Ethinyl
Estradiol, Ethynyl
Estring
Estrogen
Ethidol
Ethinoral
Ethinyl E2
Ethinyl Estradiol Hemihydrate
Ethinyl Estradiol [USP]
 
Ethinyl Estradiol, (8 alpha)-Isomer
Ethinyl Oestradiol Effik
Ethinyl estradiol
Ethinyl estradiol (USP)
Ethinyl-Oestradiol Effik
Ethinyl-Oestranol
Ethinyl-oestranol
Ethinylestradiol
Ethinylestradiol (JP15/INN)
Ethinylestradiol Jenapharm
Ethinylestradiol [INN:BAN:JAN]
Ethinylestradiolum
Ethinylestradiolum [INN-Latin]
Ethinylestriol
Ethinyloestradiol
Ethinyloestradiol [Steroidal oestrogens]
Ethy 11
Ethynyl estradiol
Ethynylestradiol
Ethynylestradiol, Ethinyl Estradiol
Ethynyloestradiol
Eticyclin
Eticyclol
Eticylol
Etinestrol
Etinestryl
Etinilestradiol
Etinilestradiol [INN-Spanish]
Etinilestradiolo
Etinilestradiolo [DCIT]
Etinoestryl
Etistradiol
Etivex
Evra
Feminone
Fempatch
Follicoral
Ginestrene
Gynodiol
Gynolett
HMS2051I19
HSDB 3587
Halodrin
Hemihydrate, Ethinyl Estradiol
Inestra
Innofem
Jenapharm Brand of Ethinyl Estradiol
Jenapharm, Ethinylestradiol
Kolpolyn
LMST02010036
LS-231
Linoral
Lynoral
MLS000028479
MLS000758274
Marvelon
Menolyn
Menostar
Mercilon
Microfollin
Microfollin Forte
MolPort-001-794-636
NCGC00091533-01
NCGC00091533-04
NCGC00091533-05
NCI60_000234
NSC-10973
NSC10973
Neo-Estrone
Nogest-S
Novestrol
OVULEN-21
OVULEN-28
Oradiol
Orestralyn
Orestrayln
Organon Brand of Ethinyl Estradiol
Ortho-Cyclen
Ovex
Oviol
PUBERTAL ETHINYL ESTRADIOL STUDY
Palonyl
Perovex
Primogyn
Primogyn C
Primogyn M
Progynon C
Progynon M
Prosexol
S1625_Selleck
SAM001247008
SGCUT00127
SMR000058319
Schering Brand of Ethinyl Estradiol
Spanestrin
Thiuram E
Thiuranide
UNII-423D2T571U
Vagifem
Varnoline
WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
Ylestrol
component of Demulen
component of Oracon
component of Ortrel
ethinyl estradiol
ethynyl estradiol
to_000048
24
Estradiolapproved, investigationalPhase 1109450-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Depo-estradiol
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol Transdermal System
Estradiol Valerate
Estradiol [USAN:INN]
Estradiol acetate
Estradiol benzoate
Estradiol cypionate
Estradiol valerate
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
 
Estrofem Forte
Estrogel
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femring
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
Minivelle
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Vivelle Dot
Vivelle-dot
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
25FluoroquinolonesPhase 1242
26Polyestradiol phosphatePhase 11095
27Topoisomerase InhibitorsPhase 14081
28Nucleic Acid Synthesis InhibitorsPhase 13836
29Norgestimate, ethinyl estradiol drug combinationPhase 1409
30Anti-Infective AgentsPhase 117220
31Contraceptive AgentsPhase 11706
32Estradiol valeratePhase 11094979-32-8
33Contraceptives, OralPhase 13734
34Anti-Bacterial AgentsPhase 19140
35Contraceptives, Oral, CombinedPhase 1566
36Estradiol 3-benzoatePhase 11094
37Estradiol 17 beta-cypionatePhase 11094
38
Mentholapproved19992216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
39Hormones11748
40tyrosineNutraceutical596
41Omega 3 Fatty AcidNutraceutical912
42Soy BeanNutraceutical455
43SunflowerNutraceutical98
44lysineNutraceutical77

Interventional clinical trials:

(show top 50)    (show all 70)
idNameStatusNCT IDPhase
1Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodCompletedNCT01082328Phase 4
2Effects of Kuvan on Melatonin SecretionCompletedNCT01617070Phase 4
3Antioxidant Signature in Adult Patients With PhenylketonuriaRecruitingNCT02212288Phase 4
4Kuvan®'s Effect on the Cognition of Children With PhenylketonuriaActive, not recruitingNCT01965912Phase 4
5The Effectiveness of Kuvan in Amish PKU PatientsNot yet recruitingNCT02677870Phase 4
6Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With PhenylketonuriaCompletedNCT01732471Phase 3
7Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) PatientsCompletedNCT01114737Phase 3
8Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006CompletedNCT00332189Phase 3
9Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsCompletedNCT00104247Phase 3
10Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted DietCompletedNCT00272792Phase 3
11A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine LevelsCompletedNCT00225615Phase 3
12An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165CompletedNCT01819727Phase 3
13Kuvan® in Phenylketonuria Patients Less Than 4 Years OldActive, not recruitingNCT01376908Phase 3
14Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKUActive, not recruitingNCT00838435Phase 3
15Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKUActive, not recruitingNCT01889862Phase 3
16Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyTerminatedNCT00432822Phase 2, Phase 3
17The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKUWithdrawnNCT01650909Phase 3
18Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With PhenylketonuriaCompletedNCT00104260Phase 2
19Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)CompletedNCT01212744Phase 2
20Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of PhenylketonuriaCompletedNCT01428258Phase 2
21A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 WeeksCompletedNCT01560286Phase 2
22Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKUCompletedNCT00925054Phase 2
23Study of BH4, a New and Simple Treatment of Mild PKUCompletedNCT00260000Phase 2
24Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyCompletedNCT00355264Phase 2
25Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)Active, not recruitingNCT00924703Phase 2
26Liver Cell Transplant for PhenylketonuriaSuspendedNCT01465100Phase 1, Phase 2
27Phenylketonuria, Oxidative Stress, and BH4TerminatedNCT01395394Phase 2
28Sapropterin on Cognitive Abilities in Young Adults With PhenylketonuriaTerminatedNCT01977820Phase 2
29Safety and Tolerability Study of rAvPAL-PEG to Treat PhenylketonuriaCompletedNCT00634660Phase 1
30A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsCompletedNCT00789568Phase 1
31Response to Phenylketonuria to Tetrahydrobiopterin (BH4)RecruitingNCT00244218Phase 1
32Sapropterin Expanded Access ProgramApproved for marketingNCT00484991
33Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced ThermogenesisCompletedNCT02440932
34Protein Requirements in Children With Phenylketonuria (PKU)CompletedNCT01965691
35Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With PhenylketonuriaCompletedNCT00909012
36The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot StudyCompletedNCT01917344
37Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With PhenylketonuriaCompletedNCT01659749
38The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU)CompletedNCT00892554
39Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)CompletedNCT00065299
40Phenylketonuria and Hyperphenylalaninemia Nutrition StudyCompletedNCT01879995
41Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive BehaviorsCompletedNCT00728676
42Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN TherapyCompletedNCT00986973
43Follow-up of Adult Phenylketonuria (PKU) PatientsCompletedNCT01096758
44Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With PhenylketonuriaCompletedNCT00006142
45Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
46Nutritional and Neurotransmitter Changes in PKU Subjects on BH4CompletedNCT00688844
47Biological Variation of Phenylalanine in Patients With HyperphenylalaninemiaCompletedNCT01869972
48The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
49Testing of Four Home Phenylalanine Monitoring Prototype DevicesCompletedNCT02445521
50Energy Requirements in Mitochondrial DiseaseCompletedNCT01776918

Search NIH Clinical Center for Phenylketonuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Phenylketonuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Phenylketonuria:
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Phenylketonuria:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636


Cochrane evidence based reviews: phenylketonurias

Genetic Tests for Phenylketonuria

About this section

Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylalanine Hydroxylase Deficiency22 PAH
2 Phenylketonuria22

Anatomical Context for Phenylketonuria

About this section

MalaCards organs/tissues related to Phenylketonuria:

33
Testes, Brain, Skin, Liver, Breast, Bone, Endothelial

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Phenylketonuria or affiliated genes

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MGI Mouse Phenotypes related to Phenylketonuria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4BTD, NIPSNAP1, PAH, PTS, TH, TPH1
2MP:00053766.2ACADM, BTD, FARSA, G6PD, NIPSNAP1, PAH

Publications for Phenylketonuria

About this section

Articles related to Phenylketonuria:

(show top 50)    (show all 819)
idTitleAuthorsYear
1
Evaluation and therapy in four patients with Takayasu's arteritis. (26787588)
2016
2
Oncogenic osteomalacia presenting as a crippling illness in a young man. (25263679)
2014
3
TRIB1 downregulates hepatic lipogenesis and glycogenesis via multiple molecular interactions. (24389359)
2014
4
I^1 integrin signaling maintains human epithelial progenitor cell survival in situ and controls proliferation, apoptosis and migration of their progeny. (24386370)
2013
5
Dynamic viral dissemination in mice infected with yellow fever virus strain 17D. (24027319)
2013
6
IL-7 downregulates IL-7RI+ expression in human CD8 T cells by two independent mechanisms. (23207282)
2013
7
Dense mapping of IL2RA shows no association with Graves' disease in Chinese Han population. (23170961)
2013
8
AKT isoforms 1 and 3 regulate basal and epidermal growth factor-stimulated SGHPL-5 trophoblast cell migration in humans. (23303682)
2013
9
Combination of zoledronic Acid and targeted therapy is active but may induce osteonecrosis of the jaw in patients with metastatic renal cell carcinoma. (23642545)
2013
10
The role of three-dimensional computed tomography in the evaluation of temporomandibular joint ankylosis. (23066255)
2012
11
One stage breast reconstruction following prophylactic mastectomy for ptotic breasts: the inferior dermal flap and implant. (22591615)
2012
12
Effects of resistin-like molecule I^ over-expression on gastric cancer cells in vitro. (22371635)
2012
13
Imbalanced levels of angiogenic and angiostatic factors in vitreous, plasma and postmortem retinal tissue of patients with proliferative diabetic retinopathy. (22699109)
2012
14
Anti-angiogenic therapies in the treatment of Waldenstrom's Macroglobulinemia. (21933107)
2011
15
Clinical features and epidemiology of cryptococcosis in cats and dogs in California: 93 cases (1988-2010). (21801050)
2011
16
Role of DJ-1-induced PTEN down-regulation in migration and invasion of human glioma cells. (21114918)
2010
17
Blue light and near-infrared fundus autofluorescence in acute Vogt-Koyanagi-Harada disease. (19965835)
2010
18
Serum growth factors in asbestosis patients. (19283526)
2009
19
Primary breast synovial sarcoma: a rare primary breast neoplasm. (20045794)
2009
20
Cardiogenic shock without flow-limiting angiographic coronary artery disease: (from the Should We Emergently Revascularize Occluded Coronary Arteries for Cardiogenic Shock Trial and Registry). (19576316)
2009
21
Effect of histamine on the expression of metalloproteinases and cell adhesion in breast cancer cell lines. (19274436)
2009
22
Detection of a mitochondrial kinase complex that mediates PKA-MEK-ERK-dependent phosphorylation of mitochondrial proteins involved in the regulation of steroid biosynthesis. (19426868)
2009
23
CRTH2-dependent, STAT6-independent induction of cedar pollen dermatitis. (18477017)
2008
24
Coordination of Rho and Rac GTPase function via p190B RhoGAP. (18948007)
2008
25
Vogt-Koyanagi-Harada disease: inquiry into the genesis of a disease name in the historical context of Switzerland and Japan. (17468832)
2007
26
Identification and characterization of RHEBL1, a novel member of Ras family, which activates transcriptional activities of NF-kappa B. (16328882)
2005
27
Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? (15813560)
2005
28
Differential regulation of follicle stimulating hormone by activin A and TGFB1 in murine gonadotropes. (16384533)
2005
29
Potentialities of calcium dependent lectin receptors of antigen presenting cells for the immunotherapeutic preparation development]. (15024991)
2004
30
Methylenetetrahydrofolate reductase gene polymorphism and susceptibility to diabetic nephropathy in type 1 diabetes. (12776270)
2003
31
Serine/threonine phosphorylation regulates HNF-4alpha-dependent redox-mediated iNOS expression in hepatocytes. (12466152)
2003
32
Psychophysiological comparison of self-efficacy and resting heart rate. (12081271)
2002
33
A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. (11112660)
2001
34
Free oxygen radiacals and kidney diseases--part I]. (11320727)
2000
35
Nuclear factor-kappaB and caspases co-operatively regulate the activation and apoptosis of human macrophages. (10792503)
2000
36
Macular amyloidosis with an incontinentia pigmenti-like pattern. (10730779)
2000
37
Reactivation of mutant p53 through interaction of a C-terminal peptide with the core domain. (10207063)
1999
38
Adrenomedullin and proadrenomedullin N-terminal 20 peptide in impaired renal function. (8743539)
1996
39
Cyclic change of cytokines in a patient with cyclic thrombocytopenia. (8757531)
1996
40
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
41
Roles of growth hormone and growth factors in the pathogenesis and treatment of kidney disease. (7922170)
1993
42
Parkinson Disease Overview (20301402)
1993
43
Downregulation of protein kinase C-gamma is independent of a functional kinase domain. (1901548)
1991
44
Toxic shock syndrome associated with pyomyositis caused by a strain of Staphylococcus aureus that does not produce toxic-shock-syndrome toxin-1. (3611834)
1987
45
Clustering and subfamily relationships of the Alu family in the human genome. (3128713)
1987
46
A two-year longitudinal study on the etiology of acute diarrhea in young children in Northern Italy. (2983179)
1985
47
48
49
50

Variations for Phenylketonuria

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UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

67 (show all 206)
id Symbol AA change Variation ID SNP ID
1PAHp.Ser16ProVAR_000869
2PAHp.Phe39LeuVAR_000870
3PAHp.Ser40LeuVAR_000872
4PAHp.Leu41PheVAR_000873
5PAHp.Lys42IleVAR_000874
6PAHp.Gly46SerVAR_000875
7PAHp.Ala47ValVAR_000876
8PAHp.Leu48SerVAR_000877
9PAHp.Arg53HisVAR_000878rs118092776
10PAHp.Phe55LeuVAR_000879
11PAHp.Glu56AspVAR_000880
12PAHp.Ile65AsnVAR_000882rs75193786
13PAHp.Ile65ThrVAR_000883rs75193786
14PAHp.Ser67ProVAR_000884
15PAHp.Arg68SerVAR_000885
16PAHp.Glu76AlaVAR_000886
17PAHp.Asp84TyrVAR_000887
18PAHp.Ser87ArgVAR_000888
19PAHp.Thr92IleVAR_000889
20PAHp.Leu98SerVAR_000891
21PAHp.Ala104AspVAR_000892
22PAHp.Thr124IleVAR_000893
23PAHp.Asp129TyrVAR_000894
24PAHp.Asp143GlyVAR_000895
25PAHp.His146TyrVAR_000896
26PAHp.Gly148SerVAR_000897
27PAHp.Asp151HisVAR_000898
28PAHp.Tyr154AsnVAR_000899
29PAHp.Arg157AsnVAR_000900
30PAHp.Arg158GlnVAR_000901
31PAHp.Arg158TrpVAR_000902
32PAHp.Gln160ProVAR_000903
33PAHp.Phe161SerVAR_000904
34PAHp.Ile164ThrVAR_000905
35PAHp.Asn167IleVAR_000906rs77554925
36PAHp.His170ArgVAR_000907
37PAHp.Gly171AlaVAR_000908
38PAHp.Gly171ArgVAR_000909
39PAHp.Pro173ThrVAR_000910
40PAHp.Ile174ThrVAR_000911
41PAHp.Pro175AlaVAR_000912
42PAHp.Arg176LeuVAR_000913
43PAHp.Arg176ProVAR_000914
44PAHp.Val177LeuVAR_000915
45PAHp.Glu178GlyVAR_000916
46PAHp.Val190AlaVAR_000917
47PAHp.Leu194ProVAR_000918
48PAHp.His201ArgVAR_000922
49PAHp.His201TyrVAR_000923
50PAHp.Tyr204CysVAR_000924
51PAHp.Tyr206AspVAR_000925
52PAHp.Asn207AspVAR_000926
53PAHp.Asn207SerVAR_000927
54PAHp.Pro211ThrVAR_000928
55PAHp.Leu212ProVAR_000929
56PAHp.Leu213ProVAR_000930
57PAHp.Cys217GlyVAR_000931
58PAHp.Gly218ValVAR_000932
59PAHp.Glu221GlyVAR_000933
60PAHp.Asp222ValVAR_000934
61PAHp.Ile224MetVAR_000935
62PAHp.Pro225ArgVAR_000936
63PAHp.Pro225ThrVAR_000937
64PAHp.Val230IleVAR_000938
65PAHp.Ser231ProVAR_000939
66PAHp.Phe233LeuVAR_000940
67PAHp.Thr238ProVAR_000941
68PAHp.Gly239SerVAR_000942
69PAHp.Arg241CysVAR_000943
70PAHp.Arg241HisVAR_000944
71PAHp.Arg241LeuVAR_000945
72PAHp.Leu242PheVAR_000946
73PAHp.Arg243GlnVAR_000947
74PAHp.Pro244LeuVAR_000948
75PAHp.Val245AlaVAR_000949
76PAHp.Val245GluVAR_000950
77PAHp.Val245LeuVAR_000951
78PAHp.Ala246AspVAR_000952
79PAHp.Gly247ValVAR_000953
80PAHp.Leu248ProVAR_000954
81PAHp.Leu249PheVAR_000955
82PAHp.Arg252GlyVAR_000956
83PAHp.Arg252GlnVAR_000957
84PAHp.Arg252TrpVAR_000958
85PAHp.Leu255ValVAR_000959
86PAHp.Leu255SerVAR_000960
87PAHp.Gly257CysVAR_000961
88PAHp.Ala259ThrVAR_000962
89PAHp.Ala259ValVAR_000963
90PAHp.Arg261ProVAR_000964
91PAHp.Arg261GlnVAR_000965rs5030849
92PAHp.Phe263LeuVAR_000966
93PAHp.His264LeuVAR_000967
94PAHp.Cys265GlyVAR_000968
95PAHp.Ile269LeuVAR_000969
96PAHp.Arg270LysVAR_000970
97PAHp.Arg270SerVAR_000971
98PAHp.His271TyrVAR_000972
99PAHp.Ser273PheVAR_000973
100PAHp.Met276IleVAR_000974
101PAHp.Met276ValVAR_000975
102PAHp.Tyr277CysVAR_000976
103PAHp.Tyr277AspVAR_000977
104PAHp.Thr278AlaVAR_000978
105PAHp.Thr278AsnVAR_000979
106PAHp.Glu280LysVAR_000980
107PAHp.Pro281LeuVAR_000981
108PAHp.Asp282AsnVAR_000982
109PAHp.Ile283PheVAR_000983
110PAHp.Ile283AsnVAR_000984
111PAHp.Arg297CysVAR_000985
112PAHp.Arg297HisVAR_000986
113PAHp.Phe299CysVAR_000987
114PAHp.Ala300SerVAR_000988
115PAHp.Ala300ValVAR_000989
116PAHp.Ser303ProVAR_000990
117PAHp.Gln304ArgVAR_000991
118PAHp.Ile306ValVAR_000992
119PAHp.Ala309AspVAR_000993
120PAHp.Ala309ValVAR_000994
121PAHp.Ser310PheVAR_000995
122PAHp.Leu311ProVAR_000996
123PAHp.Pro314HisVAR_000997
124PAHp.Ala322GlyVAR_000998
125PAHp.Ala322ThrVAR_000999
126PAHp.Phe331LeuVAR_001000
127PAHp.Leu333PheVAR_001001
128PAHp.Cys334SerVAR_001002
129PAHp.Gly337ValVAR_001003
130PAHp.Asp338TyrVAR_001004
131PAHp.Lys341ArgVAR_001005
132PAHp.Lys341ThrVAR_001006
133PAHp.Ala342ThrVAR_001007
134PAHp.Tyr343CysVAR_001008
135PAHp.Ala345SerVAR_001009
136PAHp.Ala345ThrVAR_001010
137PAHp.Leu347PheVAR_001011
138PAHp.Leu348ValVAR_001012
139PAHp.Ser349LeuVAR_001013
140PAHp.Ser349ProVAR_001014
141PAHp.Ser350ThrVAR_001015
142PAHp.Pro362ThrVAR_001016
143PAHp.Pro366HisVAR_001019
144PAHp.Thr372SerVAR_001020
145PAHp.Tyr377CysVAR_001021
146PAHp.Thr380MetVAR_001022
147PAHp.Tyr386CysVAR_001023
148PAHp.Tyr387HisVAR_001024
149PAHp.Val388LeuVAR_001025
150PAHp.Val388MetVAR_001026
151PAHp.Glu390GlyVAR_001027
152PAHp.Asp394AlaVAR_001028
153PAHp.Asp394HisVAR_001029
154PAHp.Ala395GlyVAR_001030
155PAHp.Ala395ProVAR_001031
156PAHp.Ala403ValVAR_001033rs5030857
157PAHp.Arg408GlnVAR_001034
158PAHp.Arg408TrpVAR_001035rs5030858
159PAHp.Arg413ProVAR_001036
160PAHp.Arg413SerVAR_001037
161PAHp.Tyr414CysVAR_001038
162PAHp.Asp415AsnVAR_001039
163PAHp.Thr418ProVAR_001040
164PAHp.Leu430ProVAR_001041
165PAHp.Ala447AspVAR_001042
166PAHp.Gln20LeuVAR_009239
167PAHp.Leu41ProVAR_009240
168PAHp.Ser110CysVAR_009241
169PAHp.Arg155ProVAR_009242
170PAHp.Glu183GlnVAR_009243
171PAHp.Ser231PheVAR_009244
172PAHp.Tyr325CysVAR_009245
173PAHp.Glu330AspVAR_009246
174PAHp.Gly344ArgVAR_009247
175PAHp.Gly344ValVAR_009248
176PAHp.Phe410SerVAR_009249
177PAHp.Asp145ValVAR_011566
178PAHp.Asn167SerVAR_011567rs77554925
179PAHp.Arg169HisVAR_011568
180PAHp.His170AspVAR_011569
181PAHp.Ile174ValVAR_011570
182PAHp.Glu205AlaVAR_011571
183PAHp.Phe240SerVAR_011572
184PAHp.Ile318ThrVAR_011574
185PAHp.Cys357GlyVAR_011575
186PAHp.Pro407SerVAR_011576
187PAHp.His290TyrVAR_067758
188PAHp.Ala322ValVAR_067759
189PAHp.Ile421SerVAR_067760
190PAHp.Val45AlaVAR_067994
191PAHp.Asn61AspVAR_067995
192PAHp.Leu62ProVAR_067996
193PAHp.Ile65SerVAR_067997rs75193786
194PAHp.Ile65ValVAR_067998
195PAHp.Glu76GlyVAR_067999
196PAHp.Arg157SerVAR_068000
197PAHp.His170GlnVAR_068001
198PAHp.Val177MetVAR_068002
199PAHp.Gln226HisVAR_068003
200PAHp.Pro275LeuVAR_068004
201PAHp.Ser310TyrVAR_068005
202PAHp.Pro314SerVAR_068006
203PAHp.Pro407LeuVAR_068007
204PAHp.Tyr417HisVAR_068008
205PAHp.Phe121LeuVAR_069776
206PAHp.Ser196TyrVAR_069777

Clinvar genetic disease variations for Phenylketonuria:

5 (show all 152)
id Gene Variation Type Significance SNP ID Assembly Location
1PAHNM_000277.1(PAH): c.1089delG (p.Lys363Asnfs)deletionLikely pathogenicrs5030654GRCh37Chr 12, 103237534: 103237534
2PAHNM_000277.1(PAH): c.1157A> G (p.Tyr386Cys)single nucleotide variantLikely pathogenic, Pathogenicrs62516141GRCh37Chr 12, 103237466: 103237466
3PAHNM_000277.1(PAH): c.1199+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs62509015GRCh37Chr 12, 103237423: 103237423
4PAHNM_000277.1(PAH): c.1301C> A (p.Ala434Asp)single nucleotide variantLikely pathogenicrs199475659GRCh37Chr 12, 103234192: 103234192
5PAHNM_000277.1(PAH): c.1315+2T> Csingle nucleotide variantLikely pathogenicrs1799970GRCh37Chr 12, 103234176: 103234176
6PAHNM_000277.1(PAH): c.1355dupA (p.Ter453Valfs)duplicationLikely pathogenicrs199475641GRCh37Chr 12, 103232957: 103232957
7PAHNM_000277.1(PAH): c.168+1G> Asingle nucleotide variantLikely pathogenicrs62514898GRCh37Chr 12, 103306568: 103306568
8PAHNM_000277.1(PAH): c.250G> T (p.Asp84Tyr)single nucleotide variantPathogenicrs62514902GRCh37Chr 12, 103288615: 103288615
9PAHNM_000277.1(PAH): c.400C> T (p.Gln134Ter)single nucleotide variantLikely pathogenicrs199475680GRCh37Chr 12, 103271281: 103271281
10PAHNM_000277.1(PAH): c.441+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs62517166GRCh37Chr 12, 103271239: 103271239
11PAHNM_000277.1(PAH): c.47_48delCT (p.Ser16Terfs)deletionLikely pathogenic, Pathogenicrs62642906GRCh37Chr 12, 103310861: 103310862
12PAHNM_000277.1(PAH): c.526C> T (p.Arg176Ter)single nucleotide variantPathogenicrs199475575GRCh37Chr 12, 103249094: 103249094
13PAHNM_000277.1(PAH): c.561G> A (p.Trp187Ter)single nucleotide variantLikely pathogenicrs62507336GRCh37Chr 12, 103249059: 103249059
14PAHNM_000277.1(PAH): c.580_581delCT (p.Leu194Glufs)deletionLikely pathogenicrs62508587GRCh37Chr 12, 103249039: 103249040
15PAHNM_000277.1(PAH): c.58C> T (p.Gln20Ter)single nucleotide variantLikely pathogenicrs199475585GRCh37Chr 12, 103310851: 103310851
16PAHNM_000277.1(PAH): c.60+5G> Tsingle nucleotide variantPathogenicrs62514895GRCh37Chr 12, 103310844: 103310844
17PAHNM_000277.1(PAH): c.648C> G (p.Tyr216Ter)single nucleotide variantPathogenicrs62509013GRCh37Chr 12, 103248972: 103248972
18PAHNM_000277.1(PAH): c.691T> C (p.Ser231Pro)single nucleotide variantPathogenicrs5030845GRCh37Chr 12, 103248929: 103248929
19PAHNM_000277.1(PAH): c.694C> T (p.Gln232Ter)single nucleotide variantLikely pathogenicrs62507348GRCh37Chr 12, 103248926: 103248926
20PAHNM_000277.1(PAH): c.721C> T (p.Arg241Cys)single nucleotide variantPathogenicrs76687508GRCh37Chr 12, 103246714: 103246714
21PAHNM_000277.1(PAH): c.722delG (p.Arg241Profs)deletionLikely pathogenicrs199475657GRCh37Chr 12, 103246713: 103246713
22PAHNM_000277.1(PAH): c.740G> T (p.Gly247Val)single nucleotide variantLikely pathogenicrs199475579GRCh37Chr 12, 103246695: 103246695
23PAHNM_000277.1(PAH): c.745C> T (p.Leu249Phe)single nucleotide variantPathogenicrs74503222GRCh37Chr 12, 103246690: 103246690
24PAHNM_000277.1(PAH): c.755G> A (p.Arg252Gln)single nucleotide variantPathogenicrs62644503GRCh37Chr 12, 103246680: 103246680
25PAHNM_000277.1(PAH): c.806delT (p.Ile269Thrfs)deletionPathogenicrs62508687GRCh37Chr 12, 103246629: 103246629
26PAHNM_000277.1(PAH): c.809G> A (p.Arg270Lys)single nucleotide variantPathogenicrs62514950GRCh37Chr 12, 103246626: 103246626
27PAHNM_000277.1(PAH): c.842+5G> Asingle nucleotide variantLikely pathogenicrs62516146GRCh37Chr 12, 103246588: 103246588
28PAHNM_000277.1(PAH): c.847A> T (p.Ile283Phe)single nucleotide variantLikely pathogenicrs62517168GRCh37Chr 12, 103245530: 103245530
29PAHNM_000277.1(PAH): c.1004A> C (p.Lys335Thr)single nucleotide variantLikely pathogenicrs281865434GRCh37Chr 12, 103238175: 103238175
30PAHNM_000277.1(PAH): c.1066-2A> Tsingle nucleotide variantLikely pathogenicrs281865447GRCh38Chr 12, 102843781: 102843781
31PAHNM_000277.1(PAH): c.1163T> C (p.Val388Ala)single nucleotide variantLikely pathogenicrs281865435GRCh37Chr 12, 103237460: 103237460
32PAHNM_000277.1(PAH): c.1171A> G (p.Ser391Gly)single nucleotide variantLikely pathogenicrs281865453GRCh38Chr 12, 102843674: 102843674
33PAHNM_000277.1(PAH): c.1180G> T (p.Asp394Tyr)single nucleotide variantLikely pathogenicrs62516142GRCh37Chr 12, 103237443: 103237443
34PAHNM_000277.1(PAH): c.1196T> C (p.Val399Ala)single nucleotide variantLikely pathogenicrs281865436GRCh38Chr 12, 102843649: 102843649
35PAHNM_000277.1(PAH): c.1240T> C (p.Tyr414His)single nucleotide variantLikely pathogenicrs281865437GRCh38Chr 12, 102840475: 102840475
36PAHNM_000277.1(PAH): c.164T> C (p.Phe55Ser)single nucleotide variantLikely pathogenicrs281865438GRCh38Chr 12, 102912795: 102912795
37PAHNM_000277.1(PAH): c.169G> T (p.Glu57Ter)single nucleotide variantLikely pathogenicrs140945592GRCh38Chr 12, 102894918: 102894918
38PAHNM_000277.1(PAH): c.183C> A (p.Asn61Lys)single nucleotide variantLikely pathogenicrs199475634GRCh37Chr 12, 103288682: 103288682
39PAHNM_000277.1(PAH): c.196G> T (p.Glu66Ter)single nucleotide variantLikely pathogenicrs281865454GRCh38Chr 12, 102894891: 102894891
40PAHNM_000277.1(PAH): c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)duplicationLikely pathogenicrs281865431GRCh38Chr 12, 102894877: 102894882
41PAHNM_000277.1(PAH): c.284_285delTCinsCA (p.Ile95Thr)indelLikely pathogenicrs281865432GRCh37Chr 12, 103288580: 103288581
42PAHNM_000277.1(PAH): c.350C> T (p.Thr117Ile)single nucleotide variantLikely pathogenicrs281865439GRCh38Chr 12, 102894737: 102894737
43PAHNM_000277.1(PAH): c.350delC (p.Thr117Lysfs)deletionLikely pathogenicrs281865428GRCh37Chr 12, 103288515: 103288515
44PAHNM_000277.1(PAH): c.441+6T> Asingle nucleotide variantLikely pathogenicrs199475698GRCh38Chr 12, 102877456: 102877456
45PAHNM_000277.1(PAH): c.442-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs281865448GRCh37Chr 12, 103260443: 103260443
46PAHNM_000277.1(PAH): c.504C> A (p.Tyr168Ter)single nucleotide variantLikely pathogenicrs281865455GRCh38Chr 12, 102866601: 102866601
47PAHNM_000277.1(PAH): c.547_548delGAinsTT (p.Glu183Leu)indelLikely pathogenicrs281865433GRCh37Chr 12, 103249072: 103249073
48PAHNM_000277.1(PAH): c.568G> A (p.Val190Met)single nucleotide variantLikely pathogenicrs281865441GRCh37Chr 12, 103249052: 103249052
49PAHNM_000277.1(PAH): c.591G> C (p.Leu197Phe)single nucleotide variantLikely pathogenicrs281865442GRCh38Chr 12, 102855251: 102855251
50PAHNM_000277.1(PAH): c.60+5G> Asingle nucleotide variantLikely pathogenicrs62514895GRCh37Chr 12, 103310844: 103310844
51PAHNM_000277.1(PAH): c.632C> T (p.Pro211Leu)single nucleotide variantLikely pathogenicrs281865443GRCh38Chr 12, 102855210: 102855210
52PAHNM_000277.1(PAH): c.682G> A (p.Glu228Lys)single nucleotide variantLikely pathogenicrs281865444GRCh38Chr 12, 102855160: 102855160
53PAHNM_000277.1(PAH): c.785T> G (p.Val262Gly)single nucleotide variantLikely pathogenicrs281865445GRCh38Chr 12, 102852872: 102852872
54PAHNM_000277.1(PAH): c.796A> C (p.Thr266Pro)single nucleotide variantLikely pathogenicrs62508752GRCh37Chr 12, 103246639: 103246639
55PAHNM_000277.1(PAH): c.812A> T (p.His271Leu)single nucleotide variantLikely pathogenicrs199475692GRCh38Chr 12, 102852845: 102852845
56PAHNM_000277.1(PAH): c.837delC (p.Glu280Asnfs)deletionLikely pathogenicrs281865429GRCh37Chr 12, 103246598: 103246598
57PAHNM_000277.1(PAH): c.841C> G (p.Pro281Ala)single nucleotide variantLikely pathogenicrs199475654GRCh38Chr 12, 102852816: 102852816
58PAHNM_000277.1(PAH): c.869A> T (p.His290Leu)single nucleotide variantLikely pathogenicrs62642919GRCh38Chr 12, 102851730: 102851730
59PAHNM_000277.1(PAH): c.887A> G (p.Asp296Gly)single nucleotide variantLikely pathogenicrs281865446GRCh38Chr 12, 102851712: 102851712
60PAHNM_000277.1(PAH): c.912+2T> Csingle nucleotide variantLikely pathogenicrs281865449GRCh38Chr 12, 102851685: 102851685
61PAHNM_000277.1(PAH): c.912+3A> Csingle nucleotide variantLikely pathogenicrs281865450GRCh37Chr 12, 103245462: 103245462
62PAHNM_000277.1(PAH): c.913-3C> Gsingle nucleotide variantLikely pathogenicrs281865451GRCh38Chr 12, 102846954: 102846954
63PAHNM_000277.1(PAH): c.913-8A> Gsingle nucleotide variantLikely pathogenicrs281865452GRCh37Chr 12, 103240737: 103240737
64PAHNM_000277.1(PAH): c.916delA (p.Ile306Leufs)deletionLikely pathogenicrs281865456GRCh38Chr 12, 102846948: 102846948
65PAHNM_000277.1(PAH): c.931_932delCT (p.Leu311Glyfs)deletionLikely pathogenicrs281865430GRCh38Chr 12, 102846932: 102846933
66PAHNM_000277.1(PAH): c.970-1G> Asingle nucleotide variantLikely pathogenicrs202183605GRCh37Chr 12, 103238210: 103238210
67PAHNM_000277.1(PAH): c.505C> T (p.Arg169Cys)single nucleotide variantLikely pathogenicrs281865440GRCh38Chr 12, 102866600: 102866600
68PAHNM_000277.1(PAH): c.781C> G (p.Arg261Gly)single nucleotide variantLikely pathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
69PAHNM_000277.1(PAH): c.664_665delGA (p.Asp222Terfs)deletionLikely pathogenicrs62514936GRCh37Chr 12, 103248955: 103248956
70PAHNM_000277.1(PAH): c.168_168+1delGGinsAAindelLikely pathogenicrs786204457GRCh37Chr 12, 103306568: 103306569
71PAHNM_000277.1(PAH): c.116_118delTCT (p.Phe39del)deletionLikely pathogenic, Pathogenicrs199475565GRCh37Chr 12, 103306619: 103306621
72PAHNM_000277.1(PAH): c.1352_1356delTAAAG (p.Ter453Profs)deletionPathogenicrs794727086GRCh37Chr 12, 103232956: 103232960
73PAHNM_000277.1(PAH): c.357delC (p.Trp120Glyfs)deletionPathogenicrs794727619GRCh37Chr 12, 103271324: 103271324
74PAHNM_000277.1(PAH): c.1025C> A (p.Ala342Glu)single nucleotide variantLikely pathogenicrs796064501GRCh37Chr 12, 103238154: 103238154
75PAHNM_000277.1(PAH): c.242C> A (p.Thr81Asn)single nucleotide variantLikely pathogenicrs796064502GRCh38Chr 12, 102894845: 102894845
76PAHNM_000277.1(PAH): c.836C> T (p.Pro279Leu)single nucleotide variantLikely pathogenicrs796064503GRCh37Chr 12, 103246599: 103246599
77PAHNM_000277.1(PAH): c.895T> C (p.Phe299Leu)single nucleotide variantLikely pathogenicrs796064504GRCh37Chr 12, 103245482: 103245482
78PAHNM_000277.1(PAH): c.754C> T (p.Arg252Trp)single nucleotide variantLikely pathogenic, Pathogenicrs5030847GRCh37Chr 12, 103246681: 103246681
79PAHNM_000277.1(PAH): c.110T> C (p.Leu37Pro)single nucleotide variantLikely pathogenicrs869312996GRCh37Chr 12, 103306627: 103306627
80PAHNM_000277.1(PAH): c.320A> G (p.His107Arg)single nucleotide variantLikely pathogenicrs542645236GRCh37Chr 12, 103288545: 103288545
81PAHNM_000277.1(PAH): c.800A> T (p.Gln267Leu)single nucleotide variantLikely pathogenicrs778154939GRCh37Chr 12, 103246635: 103246635
82PAHNM_000277.1(PAH): c.1172G> C (p.Ser391Thr)single nucleotide variantLikely pathogenicrs869312997GRCh38Chr 12, 102843673: 102843673
83PAHNM_000277.1(PAH): c.1315+1G> Asingle nucleotide variantPathogenicrs5030861GRCh37Chr 12, 103234177: 103234177
84PAHNM_000277.1(PAH): c.1222C> T (p.Arg408Trp)single nucleotide variantPathogenicrs5030858GRCh37Chr 12, 103234271: 103234271
85PAHNM_000277.1(PAH): c.932T> C (p.Leu311Pro)single nucleotide variantLikely pathogenic, Pathogenicrs62642936GRCh37Chr 12, 103240710: 103240710
86PAHNM_000277.1(PAH): c.977G> A (p.Trp326Ter)single nucleotide variantPathogenicrs62514959GRCh37Chr 12, 103238202: 103238202
87PAHNM_000277.1(PAH): c.838G> A (p.Glu280Lys)single nucleotide variantPathogenicrs62508698GRCh37Chr 12, 103246597: 103246597
88PAHNM_000277.1(PAH): c.331C> T (p.Arg111Ter)single nucleotide variantPathogenicrs76296470GRCh37Chr 12, 103288534: 103288534
89PAHNM_000277.1(PAH): c.782G> A (p.Arg261Gln)single nucleotide variantPathogenicrs5030849GRCh37Chr 12, 103246653: 103246653
90PAHNM_000277.1(PAH): c.754C> T (p.Arg252Trp)single nucleotide variantLikely pathogenic, Pathogenicrs5030847GRCh37Chr 12, 103246681: 103246681
91NG_008690.1: g.22736_29335delinsGGCACCTGindelPathogenicGRCh38Chr 12, 65658016: 65664615
92PAHNM_000277.1(PAH): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenic, Pathogenicrs62514891GRCh37Chr 12, 103310908: 103310908
93PAHNM_000277.1(PAH): c.473G> A (p.Arg158Gln)single nucleotide variantPathogenicrs5030843GRCh37Chr 12, 103260410: 103260410
94PAHNM_000277.1(PAH): c.727C> T (p.Arg243Ter)single nucleotide variantPathogenicrs5030846GRCh37Chr 12, 103246708: 103246708
95PAHNM_000277.1(PAH): c.842C> T (p.Pro281Leu)single nucleotide variantPathogenicrs5030851GRCh37Chr 12, 103246593: 103246593
96PAHNM_000277.1(PAH): c.611A> G (p.Tyr204Cys)single nucleotide variantLikely pathogenic, Pathogenicrs62514927GRCh37Chr 12, 103249009: 103249009
97PAHNM_000277.1(PAH): c.728G> A (p.Arg243Gln)single nucleotide variantPathogenicrs62508588GRCh37Chr 12, 103246707: 103246707
98PAHNM_000277.1(PAH): c.1238G> C (p.Arg413Pro)single nucleotide variantPathogenicrs79931499GRCh37Chr 12, 103234255: 103234255
99PAHNM_000277.1(PAH): c.1241A> G (p.Tyr414Cys)single nucleotide variantPathogenicrs5030860GRCh37Chr 12, 103234252: 103234252
100PAHNM_000277.1(PAH): c.442-1G> Asingle nucleotide variantPathogenicrs62514907GRCh37Chr 12, 103260442: 103260442
101PAHNM_000277.1(PAH): c.1068C> G (p.Tyr356Ter)single nucleotide variantLikely pathogenic, Pathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
102PAHNM_000277.1(PAH): c.814G> T (p.Gly272Ter)single nucleotide variantPathogenicrs62514952GRCh37Chr 12, 103246621: 103246621
103PAHNM_000277.1(PAH): c.1092_1094delTCT (p.Leu365del)deletionPathogenicrs62516096GRCh38Chr 12, 102843751: 102843753
104PAHNM_000277.1(PAH): c.818C> T (p.Ser273Phe)single nucleotide variantPathogenicrs62514953GRCh37Chr 12, 103246617: 103246617
105PAHNM_000277.1(PAH): c.842+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs5030852GRCh37Chr 12, 103246592: 103246592
106PAHNM_000277.1(PAH): c.764T> C (p.Leu255Ser)single nucleotide variantPathogenicrs62642930GRCh37Chr 12, 103246671: 103246671
107PAHNM_000277.1(PAH): c.1197A> T (p.Val399=)single nucleotide variantPathogenicrs199475584GRCh38Chr 12, 102843648: 102843648
108PAHNM_000277.1(PAH): c.776C> T (p.Ala259Val)single nucleotide variantPathogenicrs118203921GRCh37Chr 12, 103246659: 103246659
109PAHNM_000277.1(PAH): c.829T> G (p.Tyr277Asp)single nucleotide variantPathogenicrs78655458GRCh37Chr 12, 103246606: 103246606
110PAHNM_000277.1(PAH): c.284_286delTCA (p.Ile95del)deletionPathogenicrs62508727GRCh37Chr 12, 103288579: 103288581
111PAHNM_000277.1(PAH): c.117C> G (p.Phe39Leu)single nucleotide variantPathogenicrs62642926GRCh37Chr 12, 103306620: 103306620
112PAHPAH, SER349ARGundetermined variantPathogenic
113PAHNM_000277.1(PAH): c.1066-11G> Asingle nucleotide variantPathogenicrs5030855GRCh37Chr 12, 103237568: 103237568
114PAHNM_000277.1(PAH): c.143T> C (p.Leu48Ser)single nucleotide variantPathogenicrs5030841GRCh37Chr 12, 103306594: 103306594
115PAHNM_000277.1(PAH): c.662A> G (p.Glu221Gly)single nucleotide variantPathogenicrs62514934GRCh37Chr 12, 103248958: 103248958
116PAHNM_000277.1(PAH): c.781C> T (p.Arg261Ter)single nucleotide variantPathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
117PAHNM_000277.1(PAH): c.165delT (p.Phe55Leufs)deletionLikely pathogenic, Pathogenicrs199475566GRCh37Chr 12, 103306572: 103306572
118PAHNM_000277.1(PAH): c.1223G> A (p.Arg408Gln)single nucleotide variantPathogenicrs5030859GRCh37Chr 12, 103234270: 103234270
119PAHNM_000277.1(PAH): c.896T> G (p.Phe299Cys)single nucleotide variantLikely pathogenic, Pathogenicrs62642933GRCh37Chr 12, 103245481: 103245481
120PAHNM_000277.1(PAH): c.842+2T> Asingle nucleotide variantPathogenicrs62514955GRCh37Chr 12, 103246591: 103246591
121PAHNM_000277.1(PAH): c.1045T> C (p.Ser349Pro)single nucleotide variantPathogenicrs62508646GRCh37Chr 12, 103238134: 103238134
122PAHNM_000277.1(PAH): c.916A> G (p.Ile306Val)single nucleotide variantLikely pathogenic, Pathogenicrs62642934GRCh37Chr 12, 103240726: 103240726
123PAHNM_000277.1(PAH): c.1162G> A (p.Val388Met)single nucleotide variantPathogenicrs62516101GRCh37Chr 12, 103237461: 103237461
124PAHNM_000277.1(PAH): c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del)deletionPathogenicrs62516097GRCh37Chr 12, 103237517: 103237531
125PAHNM_000277.1(PAH): c.731C> T (p.Pro244Leu)single nucleotide variantPathogenicrs118203923GRCh37Chr 12, 103246704: 103246704
126PAHNM_000277.1(PAH): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs62514893GRCh37Chr 12, 103310906: 103310906
127PAHNM_000277.1(PAH): c.1066-3C> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs62507344GRCh37Chr 12, 103237560: 103237560
128PAHNM_000277.1(PAH): c.1169A> G (p.Glu390Gly)single nucleotide variantPathogenicrs5030856GRCh37Chr 12, 103237454: 103237454
129PAHNM_000277.1(PAH): c.1076C> G (p.Ser359Ter)single nucleotide variantPathogenicrs5030854GRCh37Chr 12, 103237547: 103237547
130PAHNM_000277.1(PAH): c.1139C> T (p.Thr380Met)single nucleotide variantLikely pathogenic, Pathogenicrs62642937GRCh37Chr 12, 103237484: 103237484
131PAHNM_000277.1(PAH): c.136G> A (p.Gly46Ser)single nucleotide variantPathogenicrs74603784GRCh37Chr 12, 103306601: 103306601
132PAHNM_000277.1(PAH): c.1129delT (p.Tyr377Thrfs)deletionPathogenicrs62642941GRCh37Chr 12, 103237494: 103237494
133PAHNM_000277.1(PAH): c.1220C> T (p.Pro407Leu)single nucleotide variantPathogenicrs62644473GRCh37Chr 12, 103234273: 103234273
134PAHNM_000277.1(PAH): c.194T> C (p.Ile65Thr)single nucleotide variantPathogenicrs75193786GRCh37Chr 12, 103288671: 103288671
135PAHNM_000277.1(PAH): c.913_1199del (p.Ile306Leufs)deletionPathogenic
136PAHNM_000277.1(PAH): c.1042C> G (p.Leu348Val)single nucleotide variantPathogenicrs62516092GRCh37Chr 12, 103238137: 103238137
137PAHNM_000277.1(PAH): c.1068C> A (p.Tyr356Ter)single nucleotide variantPathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
138PAHNM_000277.1(PAH): c.1200-1G> Asingle nucleotide variantPathogenicrs62507322GRCh37Chr 12, 103234294: 103234294
139PAHNM_000277.1(PAH): c.1208C> T (p.Ala403Val)single nucleotide variantPathogenicrs5030857GRCh37Chr 12, 103234285: 103234285
140PAHNM_000277.1(PAH): c.165T> G (p.Phe55Leu)single nucleotide variantLikely pathogenic, Pathogenicrs199475598GRCh37Chr 12, 103306572: 103306572
141PAHNM_000277.1(PAH): c.204A> T (p.Arg68Ser)single nucleotide variantLikely pathogenic, Pathogenicrs76394784GRCh37Chr 12, 103288661: 103288661
142PAHNM_000277.1(PAH): c.355C> T (p.Pro119Ser)single nucleotide variantLikely pathogenicrs398123292GRCh37Chr 12, 103271326: 103271326
143PAHNM_000277.1(PAH): c.441+5G> Tsingle nucleotide variantPathogenicrs62507321GRCh37Chr 12, 103271235: 103271235
144PAHNM_000277.1(PAH): c.508C> G (p.His170Asp)single nucleotide variantPathogenicrs199475655GRCh37Chr 12, 103260375: 103260375
145PAHNM_000277.1(PAH): c.533A> G (p.Glu178Gly)single nucleotide variantPathogenicrs77958223GRCh37Chr 12, 103249087: 103249087
146PAHNM_000277.1(PAH): c.638T> C (p.Leu213Pro)single nucleotide variantLikely pathogenic, Pathogenicrs62516109GRCh37Chr 12, 103248982: 103248982
147PAHNM_000277.1(PAH): c.890G> A (p.Arg297His)single nucleotide variantPathogenicrs62642939GRCh37Chr 12, 103245487: 103245487
148PAHNM_000277.1(PAH): c.898G> T (p.Ala300Ser)single nucleotide variantPathogenicrs5030853GRCh37Chr 12, 103245479: 103245479
149PAHNM_000277.1(PAH): c.912+1G> Asingle nucleotide variantPathogenicrs62514956GRCh37Chr 12, 103245464: 103245464
150PAHNM_000277.1(PAH): c.926C> T (p.Ala309Val)single nucleotide variantPathogenicrs62642935GRCh37Chr 12, 103240716: 103240716
151PAHNM_000277.1(PAH): c.955G> T (p.Glu319Ter)single nucleotide variantPathogenicrs398123294GRCh37Chr 12, 103240687: 103240687
152PAHNM_000277.1(PAH): c.974A> G (p.Tyr325Cys)single nucleotide variantPathogenicrs62508578GRCh37Chr 12, 103238205: 103238205

Expression for genes affiliated with Phenylketonuria

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Search GEO for disease gene expression data for Phenylketonuria.

Pathways for genes affiliated with Phenylketonuria

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GO Terms for genes affiliated with Phenylketonuria

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Biological processes related to Phenylketonuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:00424939.5ACADM, BGLAP, TH
2cellular nitrogen compound metabolic processGO:00346419.5PAH, QDPR, TH, TPH1
3oxidation-reduction processGO:00551149.3ACADM, PAH, TPH1
4response to activityGO:00148239.3BGLAP, TH
5response to organic cyclic compoundGO:00140709.1BGLAP, G6PD, TH

Sources for Phenylketonuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet