HPA
MCID: HYP141
MIFTS: 49

Hyperphenylalaninemia (HPA) malady

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

Aliases & Classifications for Hyperphenylalaninemia

About this section
Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 50Novoseek, 54Orphanet, 68UMLS, 69UMLS via Orphanet, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 71 24 54 27 50
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 54 27
Hyperphenylalaninemia Due to Bh4 Deficiency 54
Hyperphenylalaninemia, Non-Phenylketonuric 68
 
Non-Phenylketonuric Hyperphenylalaninemia 54
Hyperphenylalaninaemia 68
Hpa 24

Characteristics:

Orphanet epidemiological data:

54
hyperphenylalaninemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA238583
UMLS via Orphanet69 C0751436
ICD10 via Orphanet31 E70.1

Summaries for Hyperphenylalaninemia

About this section
Wikipedia:71 Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations... more...

MalaCards based summary: Hyperphenylalaninemia, also known as hyperphenylalaninemia due to tetrahydrobiopterin deficiency, is related to hyperphenylalaninemia, bh4-deficient, d and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and NO-dependent CFTR activation (normal and CF). Affiliated tissues include brain, testes and liver, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) 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 51)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia, bh4-deficient, d12.2
2hyperphenylalaninemia, bh4-deficient, a12.2
3hyperphenylalaninemia, bh4-deficient, c12.2
4hyperphenylalaninemia, bh4-deficient, b12.2
5phenylketonuria11.9
6mild hyperphenylalaninemia11.9
7maternal hyperphenylalaninemia11.9
8hyperphenylalaninemia due to dehydratase deficiency11.8
9dystonia, dopa-responsive, with or without hyperphenylalaninemia11.7
10hyperphenylalaninemia, mild and non-bh4-deficient11.7
11tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria11.7
12tetrahydrobiopterin deficiency11.5
13gtp cyclohydrolase i deficiency11.3
14dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.9
15segawa syndrome, recessive10.7
16tyrosine hydroxylase-deficient dopa-responsive dystonia10.7
17x-linked intellectual disability, seemanova type10.2PAH, PTS, QDPR
18idiopathic malabsorption due to bile acid synthesis defects10.1PAH, PCBD1, PTS, QDPR
19cerebritis10.1
20nail disorder, nonsyndromic congenital, 710.1CAT, GCH1, PCBD1
21neurological manifestations of pompe disease10.1CAT, SOD1
22vipas39-related arthrogryposis, renal dysfunction, and cholestasis syndrome10.0GCH1, TH
23spinocerebellar ataxia, autosomal recessive 710.0GCH1, TH
24tendinopathy10.0G6PD, SOD1
25dystonia10.0
26halal setton wang syndrome9.9GCH1, PTS, QDPR, TH
27cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk9.9MBP, TH
28hypothyroidism9.8
29tyrosinemia9.8
30eccrine acrospiroma9.7GCH1, SPR, TH
31galactosemia9.7
32hemochromatosis9.7
33burns9.7
34leukemia9.7
35congenital hypothyroidism9.7
36vitamin b12 deficiency9.7
37lymphoblastic leukemia9.7
38microcephaly9.7
39histiocytosis9.7
40thyroiditis9.7
41neuronitis9.7
42malignant histiocytosis9.7
43homocystinuria9.7
44virus associated hemophagocytic syndrome9.7
45intellectual disability9.7
46encephalopathy9.7
47hypotonia9.7
487q11.23 duplication syndrome9.3GCH1, NOS1, PAH, PCBD1, PTS, QDPR
49schizophrenia9.3CACNA1C, CNP, MBP, NOS1, TH, TPH1
50leopard syndrome 19.3BGLAP, G6PD, GCH1, PAH, PCBD1, PTS

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms & Phenotypes for Hyperphenylalaninemia

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GenomeRNAi Phenotypes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-849.7DNAJC12, GCH1, PRKG2, SPR

MGI Mouse Phenotypes related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.7CNP, MBP, NOS1, PAH, PCBD1, SOD1
2MP:00053867.5CACNA1C, CNP, MBP, NEFH, NOS1, PAH
3MP:00053847.5CACNA1C, CAT, CNP, G6PD, MBP, NEFH
4MP:00053787.3CNP, G6PD, MBP, NOS1, PAH, PRKG2
5MP:00036317.2CACNA1C, CNP, G6PD, MBP, NEFH, NOS1
6MP:00053766.3CACNA1C, CAT, CNP, G6PD, MBP, NOS1

Drugs & Therapeutics for Hyperphenylalaninemia

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

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerapamilapprovedPhase 4, Phase 2, Phase 113052-53-92520
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
2Vasodilator AgentsPhase 4, Phase 2, Phase 13543
3Calcium, DietaryPhase 4, Phase 2, Phase 15713
4calcium channel blockersPhase 4, Phase 2, Phase 11985
5Anti-Arrhythmia AgentsPhase 4, Phase 2, Phase 13093
6Protective AgentsPhase 47443
7Pharmaceutical SolutionsPhase 48192
8AntioxidantsPhase 43050
9phenylalanineNutraceuticalPhase 3, Phase 2174
10
NorgestimateapprovedPhase 138535189-28-76540478
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 1431354812-41-2, 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
12
Estradiolapproved, investigational, vet_approvedPhase 1131850-28-25757, 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
13
Ethinyl EstradiolapprovedPhase 172857-63-65991
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
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WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
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component of Demulen
component of Oracon
component of Ortrel
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to_000048
14FluoroquinolonesPhase 1392
15Polyestradiol phosphatePhase 11318
16Nucleic Acid Synthesis InhibitorsPhase 14962
17Norgestimate, ethinyl estradiol drug combinationPhase 1433
18Topoisomerase InhibitorsPhase 15069
19Contraceptives, Oral, CombinedPhase 1636
20Anti-Infective AgentsPhase 122062
21Anti-Bacterial AgentsPhase 111226
22Estradiol valeratePhase 11318979-32-8
23Contraceptive AgentsPhase 11967
24Contraceptives, OralPhase 11327
25Estradiol 3-benzoatePhase 11318
26Estradiol 17 beta-cypionatePhase 11318
27Vitamins5282
28tyrosineNutraceutical699

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Antioxidant Signature in Adult Patients With PhenylketonuriaCompletedNCT02212288Phase 4
2Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodCompletedNCT01082328Phase 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
6Response to Phenylketonuria to Tetrahydrobiopterin (BH4)Unknown statusNCT00244218Phase 1
7A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsCompletedNCT00789568Phase 1
8Sapropterin Expanded Access ProgramApproved for marketingNCT00484991
9Phenylketonuria and Hyperphenylalaninemia Nutrition StudyCompletedNCT01879995
10Biological Variation of Phenylalanine in Patients With HyperphenylalaninemiaCompletedNCT01869972
11Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP StudyCompletedNCT01924026
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 PhenylketonuriaActive, not recruitingNCT01619722
18Evaluating the Efficacy of PKU Synergy in Patients Expressing Phenylketonuria or HyperphenylalaninemiaEnrolling by invitationNCT03167697
19Bone 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 Hyperphenylalaninemia27 24
2 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency27

Anatomical Context for Hyperphenylalaninemia

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MalaCards organs/tissues related to Hyperphenylalaninemia:

36
Brain, Testes, Liver, Cortex, Bone, Fetal brain, Cerebellum

Publications for Hyperphenylalaninemia

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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 307)
idTitleAuthorsYear
1
Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels. (28504493)
2017
2
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria. (28293905)
2017
3
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (28132689)
2017
4
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH(enu2) mouse model of phenylketonuria. (26822703)
2016
5
Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia - effect on median Phe/Tyr ratios. (26910740)
2016
6
Genetic background of hyperphenylalaninemia in Nagasaki, Japan. (27173423)
2016
7
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. (25418970)
2015
8
Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency? (26226119)
2015
9
Vitamin and mineral status in patients with hyperphenylalaninemia. (26123187)
2015
10
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. (25726095)
2015
11
Micronutrient in hyperphenylalaninemia. (26322328)
2015
12
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program. (26635939)
2015
13
Hyperphenylalaninemia and the genomic revolution. (25549965)
2015
14
Prevalence of neonatal hyperphenylalaninemia in yazd province, iran. (25999633)
2015
15
Executive functioning of 4 children with hyperphenylalaninemia from childhood to adolescence. (25825540)
2015
16
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong. (24803483)
2014
17
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia. (25261586)
2014
18
Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. (25237320)
2014
19
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeqa8c panel and Ion Torrent PGM sequencing. (25456745)
2014
20
Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. (24078561)
2013
21
Mutation analysis in mild hyperphenylalaninemia (HPA) patients - Whom and what to screen? (24246852)
2013
22
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations. (23357515)
2013
23
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. (24376837)
2013
24
Mutation analysis in hyperphenylalaninemia patients from South Italy. (23792259)
2013
25
Antioxidant treatment strategies for hyperphenylalaninemia. (23657560)
2013
26
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
27
Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience. (23771645)
2013
28
DNA damage induced by phenylalanine and its analogue p-chlorophenylalanine in blood and brain of rats subjected to a model of hyperphenylalaninemia. (24032682)
2013
29
Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy. (23537842)
2013
30
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. (24133926)
2013
31
Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. (23436109)
2013
32
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
33
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model. (22644647)
2012
34
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia. (21336059)
2011
35
Correspondence on ''experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation''. (21285043)
2011
36
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. (20818608)
2011
37
Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. (20842687)
2011
38
Neurocognitive function in mild hyperphenylalaninemia. (21418193)
2011
39
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. (20823030)
2011
40
Mild hyperphenylalaninemia: to treat or not to treat. (21347590)
2011
41
Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. (21933604)
2011
42
Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma. (21632269)
2011
43
Incidence of neonatal hyperphenylalaninemia in fars province, South iran. (23056707)
2010
44
Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases. (20649554)
2010
45
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain. (20226470)
2010
46
Spotlight on sapropterin in primary hyperphenylalaninemia. (19627172)
2009
47
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. (18346471)
2008
48
Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. (18321666)
2008
49
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (18276179)
2008
50
Use of acute hyperphenylalaninemia in rhesus monkeys to examine sensitivity and stability of the L-[1-11C]leucine method for measurement of regional rates of cerebral protein synthesis with PET. (18431402)
2008

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 14)
idSuper pathwaysScoreTop Affiliating Genes
110.0PAH, QDPR
29.9NOS1, PRKG2
3
Show member pathways
9.8PAH, PCBD1, QDPR
49.6GCH1, PTS, QDPR, SPR
59.6CNP, MBP
69.5CACNA1C, TH
7
Show member pathways
9.5GCH1, PRKG2, PTS, SPR
8
Show member pathways
9.4CAT, NOS1, SOD1
99.4NEFH, NOS1, SOD1
10
Show member pathways
9.4PAH, TH, TPH1
119.3SOD1, TH
12
Show member pathways
9.1CAT, NEFH, NOS1, SOD1
137.6CNP, MBP, NEFH, NOS1, SOD1, TH
14
Show member pathways
6.7CACNA1C, CAT, G6PD, GCH1, NOS1, PAH

GO Terms for genes affiliated with Hyperphenylalaninemia

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Cellular components related to Hyperphenylalaninemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myelin sheathGO:00432099.4CNP, MBP, NEFH, SOD1
2neuron projectionGO:00430058.8QDPR, SOD1, TH, TPH1
3mitochondrionGO:00057398.7CAT, NEFH, NOS1, PTS, QDPR, SOD1
4cytosolGO:00058297.2CAT, G6PD, GCH1, NOS1, PAH, PCBD1
5cytoplasmGO:00057376.5BGLAP, CACNA1C, CNP, G6PD, GCH1, NEFH

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.8GCH1, QDPR
2response to lead ionGO:001028810.6CAT, QDPR
3L-phenylalanine catabolic processGO:000655910.6PAH, PCBD1, QDPR
4nitric oxide biosynthetic processGO:000680910.5GCH1, NOS1, SPR
5neurofilament cytoskeleton organizationGO:006005210.4NEFH, SOD1
6dopamine biosynthetic processGO:004241610.4GCH1, TH
7catecholamine biosynthetic processGO:004242310.4PAH, TH
8response to reactive oxygen speciesGO:000030210.2CAT, SOD1
9regulation of nitric-oxide synthase activityGO:005099910.2GCH1, PRKG2, PTS, SPR
10aromatic amino acid family metabolic processGO:000907210.1PAH, TH, TPH1
11neurotransmitter biosynthetic processGO:004213610.1NOS1, PAH, TH
12vasodilationGO:004231110.0GCH1, NOS1
13cellular response to oxidative stressGO:003459910.0CAT, G6PD, SOD1
14response to toxic substanceGO:00096369.8CAT, CNP, MBP
15response to activityGO:00148239.8BGLAP, CAT, TH
16tetrahydrobiopterin biosynthetic processGO:00067299.8GCH1, PCBD1, PTS, QDPR, SPR
17cellular response to growth factor stimulusGO:00713639.6BGLAP, CAT, NOS1, TH
18substantia nigra developmentGO:00217629.6CNP, G6PD, MBP
19response to nutrient levelsGO:00316679.5BGLAP, SOD1, TH
20agingGO:00075689.4BGLAP, CAT, CNP, SOD1
21response to drugGO:00424939.2BGLAP, CAT, SOD1, TH
22response to ethanolGO:00454718.8BGLAP, CAT, G6PD, SOD1, TH
23oxidation-reduction processGO:00551147.9CAT, G6PD, NOS1, PAH, PCBD1, QDPR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.7PAH, PCBD1
2amino acid bindingGO:001659710.1PAH, TH, TPH1
3oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygenGO:001671410.1PAH, TH, TPH1
4NADP bindingGO:005066110.0CAT, G6PD, NOS1, SPR
5iron ion bindingGO:00055069.8NOS1, PAH, TH, TPH1
6tetrahydrobiopterin bindingGO:00346179.6NOS1, TH
7protein homodimerization activityGO:00428038.3CAT, G6PD, GCH1, PRKG2, PTS, QDPR
8oxidoreductase activityGO:00164918.1CAT, G6PD, NOS1, PAH, QDPR, SOD1

Sources for Hyperphenylalaninemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet