MCID: HYP141
MIFTS: 44

Hyperphenylalaninemia malady

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

Aliases & Classifications for Hyperphenylalaninemia

About this section
Sources:
68Wikipedia, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 68 22 47 51 24
Hyperphenylalaninaemia 68 65
Hpa 68 22
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 51
 
Hyperphenylalaninemia Due to Bh4 Deficiency 51
Hyperphenylalaninemia, Non-Phenylketonuric 65
Non-Phenylketonuric Hyperphenylalaninemia 51

Characteristics:

Orphanet epidemiological data:

51
hyperphenylalaninemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 238583
UMLS via Orphanet66 C0751436
ICD10 via Orphanet28 E70.1
UMLS65 C0751435, C0751436

Summaries for Hyperphenylalaninemia

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Wikipedia:68 Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated levels of the... more...

MalaCards based summary: Hyperphenylalaninemia, also known as hyperphenylalaninaemia, is related to schizophrenia and hyperphenylalaninemia, bh4-deficient, d. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include testes, bone and breast, and related mouse phenotypes are integument and vision/eye.

Related Diseases for Hyperphenylalaninemia

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

(show top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1schizophrenia28.2CACNA1C, CNP, MBP, NOS1, PAH, TH
2hyperphenylalaninemia, bh4-deficient, d12.6
3hyperphenylalaninemia, bh4-deficient, c12.6
4hyperphenylalaninemia, bh4-deficient, a12.6
5hyperphenylalaninemia, bh4-deficient, b12.5
6hyperphenylalaninemia due to dehydratase deficiency12.4
7dystonia, dopa-responsive, with or without hyperphenylalaninemia12.3
8tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria12.3
9maternal hyperphenylalaninemia12.2
10mild hyperphenylalaninemia12.2
11phenylketonuria11.8
12tetrahydrobiopterin deficiency11.7
13gtp cyclohydrolase i deficiency11.5
14segawa syndrome, recessive11.2
15tyrosine hydroxylase-deficient dopa-responsive dystonia11.2
16dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.5
17minor vestibular glands adenoma10.3NOS1, PTS
18speech and communication disorders10.3G6PD, SOD1
19dural sinus malformation10.3NOS1, SOD1
20breast cancer10.3
21oesophagostomiasis10.3GCH1, PTS
22mini stroke10.3CAT, SOD1
23prostatitis10.2
24pseudotyphus of california10.2PAH, PCBD1, PTS, QDPR
25hemidystonia10.2GCH1, PTS
26prostate cancer10.2
27sarcoma10.2
28thyroiditis10.2
29brachydactyly-arterial hypertension syndrome10.2MBP, TH
30hiv-110.1
31asthma10.1
32arthritis10.1
33hepatitis10.1
34melanoma10.1
35ovarian cancer10.1
36retinitis10.1
37neuronitis10.1
38endotheliitis10.1
39cat-scratch disease10.1CAT, SOD1
40legg-calve-perthes disease10.1CAT, SOD1
41systemic lupus erythematosus10.0
42coronary artery disease10.0
43keratopathy10.0
44leukemia10.0
45spinal muscular atrophy10.0
46artery disease10.0
47lymphoma10.0
48esophagitis10.0
49dementia10.0
50thrombocytosis10.0

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms for Hyperphenylalaninemia

About this section

Drugs & Therapeutics for Hyperphenylalaninemia

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

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerapamilapprovedPhase 4, 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
2Vasodilator AgentsPhase 4, Phase 12926
3Anti-Arrhythmia AgentsPhase 4, Phase 12371
4Calcium, DietaryPhase 4, Phase 14678
5calcium channel blockersPhase 4, Phase 11743
6Pharmaceutical SolutionsPhase 47004
7Protective AgentsPhase 45651
8AntioxidantsPhase 42442
9phenylalanineNutraceuticalPhase 3, Phase 2145
10
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
11
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
12
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
13
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
14FluoroquinolonesPhase 1242
15Polyestradiol phosphatePhase 11095
16Nucleic Acid Synthesis InhibitorsPhase 13836
17Norgestimate, ethinyl estradiol drug combinationPhase 1409
18Topoisomerase InhibitorsPhase 14081
19Contraceptives, Oral, CombinedPhase 1566
20Anti-Infective AgentsPhase 117220
21Anti-Bacterial AgentsPhase 19140
22Contraceptive AgentsPhase 11706
23Contraceptives, OralPhase 13734
24Estradiol 3-benzoatePhase 11094
25Estradiol 17 beta-cypionatePhase 11094
26Estradiol valeratePhase 11094979-32-8
27tyrosineNutraceutical596

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodCompletedNCT01082328Phase 4
2Antioxidant Signature in Adult Patients With PhenylketonuriaRecruitingNCT02212288Phase 4
3An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165CompletedNCT01819727Phase 3
4Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyTerminatedNCT00432822Phase 2, Phase 3
5Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyCompletedNCT00355264Phase 2
6A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsCompletedNCT00789568Phase 1
7Response to Phenylketonuria to Tetrahydrobiopterin (BH4)RecruitingNCT00244218Phase 1
8Sapropterin Expanded Access ProgramApproved for marketingNCT00484991
9Biological Variation of Phenylalanine in Patients With HyperphenylalaninemiaCompletedNCT01869972
10Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
11Phenylketonuria and Hyperphenylalaninemia Nutrition StudyCompletedNCT01879995
12Bone Mineral Density in Adults With HyperphenylalaninemiaCompletedNCT01209819
13Hyperphenylalaninemia in Cerebral MalariaCompletedNCT00338520
14Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)CompletedNCT00065299
15Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 DeficiencyRecruitingNCT01016392
16PKUDOS: Phenylketonuria (PKU) Demographic, Outcomes, and Safety RegistryRecruitingNCT00778206
17Study of a National Cohort of Adult Patients With PhenylketonuriaRecruitingNCT01619722
18Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan TherapyTerminatedNCT01541397

Search NIH Clinical Center for Hyperphenylalaninemia

Genetic Tests for Hyperphenylalaninemia

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Genetic tests related to Hyperphenylalaninemia:

id Genetic test Affiliating Genes
1 Hyperphenylalaninemia22

Anatomical Context for Hyperphenylalaninemia

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MalaCards organs/tissues related to Hyperphenylalaninemia:

33
Testes, Bone, Breast, Brain, T cells, Lung, Liver

Animal Models for Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperphenylalaninemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3CACNA1C, PAH, PCBD1, PTS, SOD1, TH
2MP:00053917.9CNP, MBP, NOS1, PAH, PCBD1, SOD1
3MP:00053786.7CNP, G6PD, NOS1, PAH, PRKG2, PTS
4MP:00053866.6CACNA1C, CNP, MBP, NEFH, NOS1, PAH
5MP:00036316.5CACNA1C, CNP, G6PD, MBP, NEFH, NOS1
6MP:00053846.5CACNA1C, CAT, CNP, G6PD, MBP, NEFH
7MP:00107686.0CACNA1C, CAT, CNP, G6PD, MBP, NOS1
8MP:00053764.9CACNA1C, CAT, CNP, G6PD, MBP, NOS1

Publications for Hyperphenylalaninemia

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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 300)
idTitleAuthorsYear
1
Secondary sclerosing cholangitis rapidly leading to liver cirrhosis: a possible post-ICU treatment sequel. (26092685)
2016
2
Identification of epidermal growth factor receptor (EGFR) genetic variants that modify risk for head and neck squamous cell carcinoma. (25511740)
2015
3
Chemotherapy-induced peripheral neuropathy: Current status and progress. (26556766)
2015
4
TRIB1 downregulates hepatic lipogenesis and glycogenesis via multiple molecular interactions. (24389359)
2014
5
CEACAM1 inhibits cell-matrix adhesion and promotes cell migration through regulating the expression of N-cadherin. (23219815)
2013
6
Alzheimer's phenotypes induced by overexpression of human presenilin 2 mutant proteins stimulate significant changes in key factors of glucose metabolism. (23546527)
2013
7
Risk stratification and emerging treatment strategies in acute myeloid leukemia. (23704239)
2013
8
Major efficacy of trabectedin in 2 metastatic osteosarcoma patients with wild-type Asp1104 ERCC5 tumor status. (24192772)
2013
9
One stage breast reconstruction following prophylactic mastectomy for ptotic breasts: the inferior dermal flap and implant. (22591615)
2012
10
Identification of genes upregulated in ALK-positive and EGFR/KRAS/ALK-negative lung adenocarcinomas. (22080568)
2012
11
Accurate detection of the tumor clone in peripheral T-cell lymphoma biopsies by flow cytometric analysis of TCR-VI^ repertoire. (22627740)
2012
12
CD151 restricts the I+6 integrin diffusion mode. (22328509)
2012
13
Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects. (23063362)
2012
14
Promoter Methylation of CDKN2A, RARI^, and RASSF1A in Non-Small Cell Lung Carcinoma: Quantitative Evaluation Using Pyrosequencing. (23101020)
2012
15
Anti-angiogenic therapies in the treatment of Waldenstrom's Macroglobulinemia. (21933107)
2011
16
Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation. (21367833)
2011
17
Epidemiology of insulinoma in Tunisia. (21688180)
2011
18
Modification of nonstructural protein 1 of influenza A virus by SUMO1. (21047957)
2011
19
Mechanistic study of BNP7787-mediated cisplatin nephroprotection: modulation of gamma-glutamyl transpeptidase. (19714332)
2010
20
Flow cytometric assessment of chicken T cell-mediated immune responses after Newcastle disease virus vaccination and challenge. (20434546)
2010
21
Solitary fibrous tumor of small bowel mesentery: a case report and review of the literature. (21388072)
2010
22
Unique secretion mode of human protein Z: its Gla domain is responsible for inefficient, vitamin K-dependent and warfarin-sensitive secretion. (19188667)
2009
23
Schiff base transition metal complexes as novel inhibitors of xanthine oxidase. (17706325)
2008
24
Improved effectiveness of nanoparticle albumin-bound (nab) paclitaxel versus polysorbate-based docetaxel in multiple xenografts as a function of HER2 and SPARC status. (18766004)
2008
25
The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease. (18187492)
2008
26
Cyclin D1 expression in oral squamous cell carcinoma and verrucous carcinoma: correlation with histological differentiation. (17197212)
2007
27
Outbreak of cryptosporidiosis at a California waterpark: employee and patron roles and the long road towards prevention. (17291365)
2007
28
Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. (17680820)
2007
29
Serum levels of hepatocyte growth factor/scatter factor in patients with liver metastases from breast cancer. (17143015)
2007
30
Large scale gene expression profiles of regenerating inner ear sensory epithelia. (17565378)
2007
31
Molecular switch for alternative conformations of the HIV-1 V3 region: implications for phenotype conversion. (16966601)
2006
32
Transferrin saturation in the diagnostic algorithm of genetic hemochromatosis]. (16624237)
2006
33
Platelet vesicular monoamine transporter density in untreated patients diagnosed with social phobia. (16129496)
2005
34
Cementless total hip arthroplasty using an autograft of the femoral head for marked acetabular dysplasia: case series. (15237116)
2004
35
Effect of amlodipine on insulin resistance & tumor necrosis factor-alpha levels in hypertensive obese type 2 diabetic patients. (15591634)
2004
36
Clinical microbiological case: a firm, right infraclavicular mass in an adult woman with connective tissue disease. (12390286)
2002
37
Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. (11523902)
2001
38
Thyroglobulin repression of thyroid transcription factor 1 (TTF-1) gene expression is mediated by decreased DNA binding of nuclear factor I proteins which control constitutive TTF-1 expression. (11046146)
2000
39
Long-term follow-up of Ru-106/Rh-106 brachytherapy for posterior uveal melanoma. (10766281)
2000
40
Stance balance control with orthoses in a group of children with spastic cerebral palsy. (10576639)
1999
41
Matrix metalloproteinase-1 is associated with poor prognosis in oesophageal cancer. (9771478)
1998
42
Hemifacial spasm due to posterior fossa tumors: the impact of tumor location on electrophysiological findings. (9746297)
1998
43
Interrelation of fetal metabolism and late pregnancy in animals]. (9463237)
1997
44
Limited value of delayed radiothallium image in the diagnosis of nodular goiter. (1777352)
1991
45
Squamous cell carcinoma arising in long-standing necrobiosis lipoidica. (3966816)
1985
46
Surgical palliation of tricuspid atresia. (1157283)
1975
47
The first pregnancies after treating of oligospermia by collected and stored human semen. (1143102)
1975
48
Retrograde amnesia: time dependent effects of rhinencephalic lesions. (4946518)
1969
49
Pharmacology and mechanism of action of cryptenamine. (5918523)
1966
50
TREATMENT OF FETISHISM BY NEGATIVE CONDITIONING--A FURTHER NOTE. (14048220)
1963

Variations for Hyperphenylalaninemia

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Expression for genes affiliated with Hyperphenylalaninemia

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Search GEO for disease gene expression data for Hyperphenylalaninemia.

Pathways for genes affiliated with Hyperphenylalaninemia

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Pathways related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
110.0PAH, QDPR
2
Show member pathways
9.8PAH, PCBD1, QDPR
39.7NOS1, PRKG2
49.6CNP, MBP
59.6GCH1, PTS, QDPR, SPR
6
Show member pathways
9.4CAT, NOS1, SOD1
79.3SOD1, TH
8
Show member pathways
9.3GCH1, PRKG2, PTS, SPR
99.2CACNA1C, TH
10
Show member pathways
9.2PAH, TH, TPH1
11
Show member pathways
9.1CAT, NEFH, NOS1, SOD1
12
Show member pathways
6.1CACNA1C, CAT, G6PD, GCH1, NOS1, PAH

GO Terms for genes affiliated with Hyperphenylalaninemia

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1nitric oxide biosynthetic processGO:000680910.5GCH1, NOS1
2tetrahydrobiopterin biosynthetic processGO:000672910.4GCH1, PCBD1, QDPR
3response to nutrient levelsGO:003166710.4NOS1, SOD1
4negative regulation of blood pressureGO:004577610.3GCH1, NOS1
5response to fatty acidGO:007054210.3CAT, MBP
6glutathione metabolic processGO:000674910.2G6PD, SOD1
7regulation of nitric-oxide synthase activityGO:005099910.1GCH1, PRKG2, SPR
8response to lead ionGO:001028810.0CAT, NOS1, QDPR
9response to reactive oxygen speciesGO:000030210.0CAT, SOD1
10cellular response to oxidative stressGO:003459910.0G6PD, NEFH, SOD1
11agingGO:00075689.8CAT, NOS1, SOD1
12nitric oxide metabolic processGO:00462099.7GCH1, PRKG2, PTS, SPR
13cellular response to growth factor stimulusGO:00713639.5BGLAP, CAT, NOS1
14oxidation-reduction processGO:00551149.2CAT, PAH, SOD1, TPH1
15response to amphetamineGO:00019759.2SOD1, TH
16cellular nitrogen compound metabolic processGO:00346419.2PAH, QDPR, TH, TPH1
17response to hypoxiaGO:00016669.0CAT, NOS1, TH
18response to drugGO:00424938.5BGLAP, CAT, SOD1, TH
19response to organic cyclic compoundGO:00140708.4BGLAP, G6PD, TH

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.6G6PD, NOS1, SPR

Sources for Hyperphenylalaninemia

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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