MCID: PHN003
MIFTS: 71

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 50 33 11 69 46 23 24 13 52 68 12 36
Pku 11 46 23 24 52 68
Phenylalanine Hydroxylase Deficiency 22 46 23 52
Pah Deficiency 22 23 24 52
Phenylketonurias 48 37 66
Folling Disease 46 23 24
Phenylketonuria, Maternal 37 66
Maternal Phenylketonuria 11 52
Deficiency Disease, Phenylalanine Hydroxylase 24
Phenylalanine Hydroxylase Deficiency Disease 24
Non-Phenylketonuria Hyperphenylalaninemia 68
Hyperphenylalaninemic Embryopathy 52
Maternal Hyperphenylalaninemia 52
 
Phenylketonuric Embryopathy 52
Oligophrenia Phenylpyruvica 46
Classical Phenylketonuria 66
Phenylalanine Hydroxylase 12
Phenylketonuria Maternal 48
Variant Phenylketonuria 25
Hyperphenylalaninemia 68
Følling's Disease 11
Folling's Disease 24
Phenylalaninemia 11
Maternal Pku 52
Non-Pku Hpa 68
Hpa 68

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
phenylketonuria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 261600
Disease Ontology11 DOID:9281
ICD9CM30 270.1
NCIt43 C81315
ICD10 via Orphanet29 E70.0, E70.1
MESH via Orphanet38 D010661
UMLS via Orphanet67 C0031485, C0085547
ICD1028 E70.0

Summaries for Phenylketonuria

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NIH Rare Diseases:46 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 biotinidase deficiency and mild phenylketonuria, and has symptoms including aminoaciduria, cognitive impairment and microcephaly. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Folate biosynthesis. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are integument and homeostasis/metabolism.

Disease Ontology:11 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:68 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:36 Phenylketonuria (pku) is a type of amino acid metabolism disorder. it is inherited. if you have it, your body can't process part of a protein called phenylalanine (phe). phe is in almost all foods. if your phe level gets too high, it can damage your 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 you 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 to stay on the diet for the rest of your life. nih: national institute of child health and human development

Genetics Home Reference:24 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:50 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine... (261600) more...

Wikipedia:69 Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino... 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency29.4ACADM, BTD
2mild phenylketonuria12.3
3classic phenylketonuria12.2
4tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria11.9
5maternal hyperphenylalaninemia11.4
6hyperphenylalaninemia, bh4-deficient, c11.1
7hyperphenylalaninemia11.0
8hyperphenylalaninemia, bh4-deficient, b10.9
9hyperhomocysteinemia10.5PTS, QDPR
10vulvovaginal gingival syndrome10.4PAH, PTS, QDPR
11podder-tolmie syndrome10.4G6PD, TTR
12ovarian cystic teratoma10.4BGLAP, TTR
13sleep apnea10.4GCH1, PTS
14plummer's disease10.4PAH, QDPR, TTR
15ostertagiasis10.4GCH1, PTS
16kunjin encephalitis10.2TH, TPH1
17hypothyroidism10.2
18fatal infantile encephalocardiomyopathy10.2ACADM, PAH
19congenital hypothyroidism10.1
20cerebritis10.1
21galactosemia10.1
22waardenburg's syndrome10.1ACADM, PAH
23mild hyperphenylalaninemia10.1
24neonatal myasthenia gravis10.0TH, TPH1
25vitamin b12 deficiency9.9
26interstitial lung disease9.9TH, TPH1
27histiocytoid hemangioma9.9GCH1, TPH1
28glycine encephalopathy9.9
29hyperphenylalaninemia, bh4-deficient, a9.9
30amino acid metabolic disorder9.9
31obesity9.9
32dementia9.9
33homocystinuria9.9
34tetrahydrobiopterin deficiency9.9
35neonatal hypothyroidism9.9
36hyperinsulinemic hypoglycemia, familial, 49.8ACADM, HADHA
37atrophic glossitis9.8ACADM, HADHA
38sudden infant death syndrome9.8ACADM, TH, TPH1
39pyruvate kinase deficiency9.8
40hepatitis9.8
41leukemia9.8
42microcephaly9.8
43epilepsy9.8
44aminoacidopathies9.8
45precocious puberty9.8
46spasticity9.8
47fga-related congenital afibrinogenemia9.8ACADM, HADHA
48atrial fibrillation, familial, 49.8ACADM, BTD, PTS
49perry syndrome9.8TH, TPH1
5049, xxxxx9.7GCH1, PAH, PTS, QDPR, TH

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:

 52
  • malformation of the heart and great vessels
  • aminoaciduria
  • intellectual disability, severe

HPO human phenotypes related to Phenylketonuria:

(show all 25)
id Description Frequency HPO Source Accession
1 aminoaciduria hallmark (90%) HP:0003355
2 cognitive impairment typical (50%) HP:0100543
3 microcephaly HP:0000252
4 cataract HP:0000518
5 blue irides HP:0000635
6 psychosis HP:0000709
7 aggressive behavior HP:0000718
8 obsessive-compulsive behavior HP:0000722
9 irritability HP:0000737
10 anxiety HP:0000739
11 self-mutilation HP:0000742
12 dry skin HP:0000958
13 eczema HP:0000964
14 intellectual disability HP:0001249
15 seizures HP:0001250
16 hyperreflexia HP:0001347
17 fair hair HP:0002286
18 cerebral calcification HP:0002514
19 phenylpyruvic acidemia HP:0004920
20 hyperphenylalaninemia HP:0004923
21 reduced phenylalanine hydroxylase activity HP:0005982
22 attention deficit hyperactivity disorder HP:0007018
23 generalized hypopigmentation HP:0007513
24 scleroderma HP:0100324
25 maternal hyperphenylalaninemia HP:0100610

UMLS symptoms related to Phenylketonuria:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, chyluria, pneumatouria, traumatic hematuria, vertigo/dizziness, sleeplessness, morning sickness, dry skin

Drugs & Therapeutics for Phenylketonuria

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1calcium channel blockersPhase 4, Phase 3, Phase 2, Phase 11889
2
verapamilPhase 4, Phase 3, Phase 2, Phase 112352-53-92520
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
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
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 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 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
3
SerotoninPhase 4351050-67-95202
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
4
DopaminePhase 4367851-61-6, 62-31-7681
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 [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
5
BenzocainePhase 4, Phase 217941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
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
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
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]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
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
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
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
6tannic acidNutraceuticalPhase 4, Phase 21794
7phenylalanineNutraceuticalPhase 4, Phase 3, Phase 2, Phase 1, Phase 0155
8
MelatoninNutraceuticalPhase 424573-31-4896
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
9
MoxifloxacinPhase 1423354812-41-2, 151096-09-2152946
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
Moxifloxacin [INN:BAN]
UNII-U188XYD42P
Vigamox
moxifloxacin
10
NorgestimatePhase 137435189-28-76540478
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
11
Ethinyl EstradiolPhase 170457-63-65991
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
12Estradiol valeratePhase 11250979-32-8
13
EstradiolPhase 1125050-28-25757, 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
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 [USAN:INN]
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
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
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)
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
14
Menthol21842216-51-516666
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
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
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
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
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
15tyrosineNutraceutical633
16lysineNutraceutical81

Interventional clinical trials:

(show top 50)    (show all 71)
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
41The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)CompletedNCT00964236
42Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive BehaviorsCompletedNCT00728676
43Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN TherapyCompletedNCT00986973
44Follow-up of Adult Phenylketonuria (PKU) PatientsCompletedNCT01096758
45Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With PhenylketonuriaCompletedNCT00006142
46Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
47Nutritional and Neurotransmitter Changes in PKU Subjects on BH4CompletedNCT00688844
48Biological Variation of Phenylalanine in Patients With HyperphenylalaninemiaCompletedNCT01869972
49The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
50Testing of Four Home Phenylalanine Monitoring Prototype DevicesCompletedNCT02445521

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: phenylketonuria, maternal

Genetic Tests for Phenylketonuria

About this section

Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylketonuria25 23
2 Phenylalanine Hydroxylase Deficiency23 PAH

Anatomical Context for Phenylketonuria

About this section

MalaCards organs/tissues related to Phenylketonuria:

34
Brain, Testes, Skin, Heart, Bone, Liver, 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

About this section

MGI Mouse Phenotypes related to Phenylketonuria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4BTD, NIPSNAP1, PAH, PTS, TH, TPH1
2MP:00053765.7ACADM, BTD, G6PD, HADHA, NIPSNAP1, PAH

Publications for Phenylketonuria

About this section

Articles related to Phenylketonuria:

(show top 50)    (show all 872)
idTitleAuthorsYear
1
Nutritional status of patients with phenylketonuria in Japan. (27595068)
2016
2
Phenylketonuria screening in the Republic of Macedonia. (27496147)
2016
3
A GC/MS-based metabolomic approach for reliable diagnosis of phenylketonuria. (26410738)
2015
4
Food acceptance and neophobia in children with phenylketonuria: a prospective controlled study. (26510709)
2015
5
A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population. (26481238)
2015
6
Fish-Free Diet in Patients with Phenylketonuria Is Not Associated with Early Atherosclerotic Changes and Enhanced Platelet Activation. (26291823)
2015
7
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. (25232857)
2014
8
Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism. (25359260)
2014
9
Impact of geographic access to care on compliance and metabolic control in phenylketonuria. (23177662)
2013
10
Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. (23573793)
2013
11
Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria. (24206933)
2013
12
Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker. (23164313)
2013
13
Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked? (24051226)
2013
14
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
15
Breastfeeding follow-up in the treatment of children with phenylketonuria. (23306691)
2012
16
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? (23430918)
2012
17
Processing speed and executive abilities in children with phenylketonuria. (22866986)
2012
18
Selenium intake and nutritional status of children with phenylketonuria in Minas Gerais, Brazil. (23092958)
2012
19
High prevalence of overweight and obesity in females with phenylketonuria. (22846370)
2012
20
Bone metabolism and the muscle-bone relationship in children, adolescents and young adults with phenylketonuria. (20706750)
2011
21
Follow up of phenylketonuria patients. (22018725)
2011
22
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin. (20123475)
2010
23
Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China]. (19099685)
2008
24
Adverse medical outcomes of early newborn screening programs for phenylketonuria. (18596006)
2008
25
Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. (17221866)
2007
26
Phenylketonuria--the lived experience. (17891216)
2007
27
Normal-appearing white matter in patients with phenylketonuria: water content, myelin water fraction, and metabolite concentrations. (17185670)
2007
28
Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior. (17607414)
2007
29
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. (17517248)
2007
30
A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. (16483397)
2006
31
Cerebral glucose metabolism in adults with early treated classic phenylketonuria. (16343970)
2006
32
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. (15811181)
2005
33
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU). (15925112)
2005
34
Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy. (16150627)
2005
35
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. (14741196)
2004
36
The molecular basis of phenylketonuria in Koreans. (15503242)
2004
37
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. (14654659)
2003
38
Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. (12655546)
2003
39
The impact of phenylketonuria on folate metabolism. (12208135)
2002
40
Measurement of phenyllactate, phenylacetate, and phenylpyruvate by negative ion chemical ionization-gas chromatography/mass spectrometry in brain of mouse genetic models of phenylketonuria and non-phenylketonuria hyperphenylalaninemia. (10790306)
2000
41
Two novel mutations in exon 11 of the PAH gene (1163/1164 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria. (10200057)
1998
42
Phenylketonuria with familial hyperglycinuria. (7837780)
1994
43
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene. (1301947)
1992
44
Identification of a missense phenylketonuria mutation at codon 408 in Chinese. (1355066)
1992
45
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
46
Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation. (2615649)
1989
47
Study of serum ferritin in 58 children with classic phenylketonuria and persistent hyperphenylalaninaemia. (3939594)
1985
48
Amino acid and protein requirements in a preterm infant with classic phenylketonuria. (3985660)
1985
49
Trace element disturbances in dietetically treated patients with phenylketonuria and maple syrup urine disease. (732826)
1978
50
A method for analysing fertility of heterozygotes for autosomal recessive disorders, with special reference to cystic fibrosis, Tay-Sachs disease and phenylketonuria. (848858)
1977

Variations for Phenylketonuria

About this section

UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

68 (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 pathogenicrs786204457GRCh38Chr 12, 102912790: 102912791
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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Cellular components related to Phenylketonuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic side of plasma membraneGO:00098989.8G6PD, TH
2mitochondrionGO:00057397.9ACADM, HADHA, NIPSNAP1, PTS, QDPR, TH
3cytosolGO:00058297.1G6PD, GCH1, PAH, PTS, QDPR, SLC7A5

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1L-phenylalanine catabolic processGO:000655910.6PAH, QDPR
2dihydrobiopterin metabolic processGO:005106610.5GCH1, QDPR
3neurotransmitter biosynthetic processGO:004213610.1PAH, TH
4regulation of nitric-oxide synthase activityGO:005099910.0GCH1, PTS
5catecholamine biosynthetic processGO:004242310.0PAH, TH
6cellular amino acid metabolic processGO:000652010.0PTS, QDPR, SLC7A5
7response to zinc ionGO:00100439.9BGLAP, TH
8fatty acid beta-oxidationGO:00066359.8ACADM, HADHA
9dopamine biosynthetic processGO:00424169.8GCH1, TH
10tetrahydrobiopterin biosynthetic processGO:00067299.8GCH1, PTS, QDPR
11response to immobilization stressGO:00359029.8TH, TPH1
12response to organic cyclic compoundGO:00140709.1BGLAP, G6PD, TH
13response to ethanolGO:00454718.9BGLAP, G6PD, TH
14oxidation-reduction processGO:00551148.0ACADM, G6PD, PAH, QDPR, TH, TPH1

Molecular functions related to Phenylketonuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty-acyl-CoA bindingGO:000006210.0ACADM, HADHA
2amino acid bindingGO:00165979.2PAH, TH, TPH1
3protein homodimerization activityGO:00428038.8G6PD, GCH1, PAH, PTS, QDPR

Sources for Phenylketonuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet