MCID: HYP141
MIFTS: 46

Hyperphenylalaninemia malady

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

Aliases & Classifications for Hyperphenylalaninemia

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Sources:
69Wikipedia, 23GeneTests, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 69 23 52 25 48
Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 52
Hyperphenylalaninemia Due to Bh4 Deficiency 52
Hyperphenylalaninemia, Non-Phenylketonuric 66
 
Non-Phenylketonuric Hyperphenylalaninemia 52
Hyperphenylalaninaemia 66
Hpa 23

Characteristics:

Orphanet epidemiological data:

52
hyperphenylalaninemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA238583
UMLS via Orphanet67 C0751436
ICD10 via Orphanet29 E70.1

Summaries for Hyperphenylalaninemia

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Wikipedia:69 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, c. An important gene associated with Hyperphenylalaninemia is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Biogenic Amine Synthesis. Affiliated tissues include brain, testes and bone, and related mouse phenotypes are cellular and behavior/neurological.

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 55)
idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia, bh4-deficient, d12.2
2hyperphenylalaninemia, bh4-deficient, c12.2
3hyperphenylalaninemia, bh4-deficient, a12.2
4hyperphenylalaninemia, bh4-deficient, b12.1
5mild hyperphenylalaninemia12.0
6maternal hyperphenylalaninemia12.0
7hyperphenylalaninemia due to dehydratase deficiency11.9
8dystonia, dopa-responsive, with or without hyperphenylalaninemia11.9
9tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria11.9
10phenylketonuria11.7
11tetrahydrobiopterin deficiency11.6
12gtp cyclohydrolase i deficiency11.4
13segawa syndrome, recessive10.8
14tyrosine hydroxylase-deficient dopa-responsive dystonia10.8
15plummer's disease10.6PAH, QDPR
16vulvar glandular tumor10.5NOS1, PTS
17sleep apnea10.5GCH1, PTS
18ostertagiasis10.4GCH1, PTS
19hemiplegia alterans10.4MBP, SOD1
20multiple system atrophy with orthostatic hypotension10.4CAT, SOD1
21peripheral vascular disease10.3G6PD, SOD1
22vulvovaginal gingival syndrome10.3PAH, PCBD1, PTS, QDPR
23cerebritis10.2
24nail disorder, nonsyndromic congenital, 710.2CAT, GCH1, PCBD1
25podder-tolmie syndrome10.2G6PD, SOD1
26niemann-pick disease, type b10.2CNP, MBP
27legg-calve-perthes disease10.1CAT, SOD1
28transient neonatal thrombocytopenia10.1CAT, SOD1
29dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.1
30microphthalmia, syndromic 1310.0CAT, G6PD
31dystonia10.0
32pseudoretinitis pigmentosa10.0CAT, SOD1
33hypothyroidism9.9
34tyrosinemia9.9
35galactosemia9.8
36hemochromatosis9.8
37burns9.8
38leukemia9.8
39congenital hypothyroidism9.8
40vitamin b12 deficiency9.8
41lymphoblastic leukemia9.8
42microcephaly9.8
43histiocytosis9.8
44thyroiditis9.8
45neuronitis9.8
46malignant histiocytosis9.8
47homocystinuria9.8
48virus associated hemophagocytic syndrome9.8
49encephalopathy9.8
50hypotonia9.8

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms for Hyperphenylalaninemia

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Drugs & Therapeutics for Hyperphenylalaninemia

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
verapamilPhase 4, 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
2calcium channel blockersPhase 4, Phase 2, Phase 11889
3phenylalanineNutraceuticalPhase 3, Phase 2155
4
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
5
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
6Estradiol valeratePhase 11250979-32-8
7
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
8
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
9tyrosineNutraceutical633

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 Hyperphenylalaninemia25 23

Anatomical Context for Hyperphenylalaninemia

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MalaCards organs/tissues related to Hyperphenylalaninemia:

34
Brain, Testes, Bone, Liver, Cortex, Fetal brain, Cerebellum

Animal Models for Hyperphenylalaninemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperphenylalaninemia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053846.8CACNA1C, CAT, CNP, G6PD, MBP, NEFH
2MP:00053866.4CACNA1C, CNP, MBP, NEFH, NOS1, PAH
3MP:00036316.4CACNA1C, CNP, G6PD, MBP, NEFH, NOS1
4MP:00053765.3CACNA1C, CAT, CNP, G6PD, MBP, NOS1

Publications for Hyperphenylalaninemia

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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling. (25726095)
2015
2
A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia. (24133926)
2013
3
Mutation analysis in hyperphenylalaninemia patients from South Italy. (23792259)
2013
4
Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province]. (24078561)
2013
5
Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia. (24376837)
2013
6
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
7
Lipoic acid prevents oxidative stress in vitro and in vivo by an acute hyperphenylalaninemia chemically-induced in rat brain. (20226470)
2010
8
Incidence of neonatal hyperphenylalaninemia in fars province, South iran. (23056707)
2010
9
Spotlight on sapropterin in primary hyperphenylalaninemia. (19627172)
2009
10
Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
2007
11
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. (14681498)
2004
12
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
13
Hyperphenylalaninemia and birth weight. (12381438)
2002
14
Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. (11438997)
2001
15
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (10767173)
2000
16
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
17
Neuropsychological function in mild hyperphenylalaninemia. (10755172)
2000
18
Mutations causing hereditary hyperphenylalaninemia]. (10910639)
1999
19
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
1998
20
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
1996
21
Microcephaly in a hyperphenylalaninemic infant leading to the diagnosis of maternal hyperphenylalaninemia. (8929743)
1996
22
Maternal mild hyperphenylalaninemia: results of treated and untreated pregnancies in two sisters. (8071761)
1994
23
Branched chain amino acids improve radial-arm maze acquisition and water maze forced-choice learning in rat offspring exposed in utero to hyperphenylalaninemia. (1593977)
1992
24
Biopterin-responsive hyperphenylalaninemia. (1297822)
1992
25
Experimental hyperphenylalaninemia in the pregnant guinea pig: possible phenylalanine teratogenesis and p-chlorophenylalanine embryotoxicity. (2962329)
1987
26
Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency. (3873535)
1985
27
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
28
Effect of experimental hyperphenylalaninemia on biogenic amine synthesis at later stages of brain development. (6615490)
1983
29
Effects of maternal hyperphenylalaninemia on fetal brain development: a morphological study. (6681776)
1983
30
Hyperphenylalaninemia (PKU) and hypothyroid testing. (6958065)
1982
31
The effects of hyperphenylalaninemia on fetal development: a new animal model of maternal phenylketonuria. (7201630)
1982
32
Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats. (6257849)
1981
33
Effect of hyperphenylalaninemia on Na+ + K+-ATPase in rat brain. (6118285)
1981
34
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
1980
35
The effect of hyperphenylalaninemia on size and density of synapses in rat neocortex. (509232)
1979
36
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
1976
37
Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
1976
38
The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates. (991440)
1976
39
Lipid metabolism in liver and brain in acute hyperphenylalaninemia in rats of different ages. Correlation with tissue phenylalanine and tyrosine levels. (4844245)
1974
40
Use of a formula based on whey protein concentrate in the feeding of an infant with hyperphenylalaninemia. (4462035)
1974
41
Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
1973
42
Persistent hyperphenylalaninemia. (5021455)
1972
43
Hyperphenylalaninemia and pregnancy. (5078181)
1972
44
Automated screening procedure for hyperphenylalaninemia. (5562038)
1971
45
Sex ratio in hyperphenylalaninemia. (5434124)
1970
46
Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia. (5374976)
1969
47
Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. (6042624)
1967
48
Dietary induction of hyperphenylalaninemia in the rat. (6067644)
1967
49
Hyperphenylalaninemia without phenylketonuria. (6036013)
1967
50
Diagnostic and therapeutic implications of persistent hyperphenylalaninemia in an infant heterozygous for the gene of phenylketonuria. (5910762)
1966

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 11)
idSuper pathwaysScoreTop Affiliating Genes
110.0PAH, QDPR
2
Show member pathways
10.0PAH, TPH1
39.8NOS1, PRKG2
4
Show member pathways
9.8PAH, PCBD1, QDPR
59.6CNP, MBP
69.5GCH1, PTS, QDPR, SPR
7
Show member pathways
9.4GCH1, PRKG2, PTS, SPR
8
Show member pathways
9.4CAT, NOS1, SOD1
9
Show member pathways
9.0CAT, NEFH, NOS1, SOD1
108.3CNP, MBP, NEFH, NOS1, SOD1, TPH1
11
Show member pathways
6.3CACNA1C, 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:00432099.2CNP, MBP, NEFH, SOD1
2cell projectionGO:00429958.9BGLAP, CNP, MBP
3cytosolGO:00058296.9CAT, G6PD, GCH1, NOS1, PAH, PCBD1
4cytoplasmGO:00057375.5BGLAP, CACNA1C, CNP, G6PD, GCH1, NEFH

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.7GCH1, QDPR
2neurotransmitter biosynthetic processGO:004213610.4NOS1, PAH
3L-phenylalanine catabolic processGO:000655910.4PAH, PCBD1, QDPR
4neurofilament cytoskeleton organizationGO:006005210.3NEFH, SOD1
5response to vitamin EGO:003319710.3CAT, NOS1
6response to fatty acidGO:007054210.2CAT, MBP
7nitric oxide biosynthetic processGO:000680910.1GCH1, NOS1, SPR
8regulation of nitric-oxide synthase activityGO:00509999.8GCH1, PRKG2, PTS, SPR
9cellular response to oxidative stressGO:00345999.7G6PD, NEFH, SOD1
10response to lead ionGO:00102889.7CAT, NOS1, QDPR
11tetrahydrobiopterin biosynthetic processGO:00067299.7GCH1, PCBD1, PTS, QDPR, SPR
12substantia nigra developmentGO:00217629.6CNP, G6PD, MBP
13cellular response to growth factor stimulusGO:00713639.5BGLAP, CAT, NOS1
14response to activityGO:00148239.2BGLAP, CAT, NOS1
15response to toxic substanceGO:00096369.0CAT, CNP, MBP
16response to ethanolGO:00454718.3BGLAP, CAT, G6PD, NOS1, SOD1
17agingGO:00075688.1BGLAP, CAT, CNP, MBP, NOS1, SOD1
18oxidation-reduction processGO:00551148.1G6PD, NOS1, PAH, PCBD1, QDPR, SOD1

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

idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.7PAH, PCBD1
2amino acid bindingGO:001659710.0PAH, TPH1
3iron ion bindingGO:00055069.9NOS1, PAH, TPH1
4NADP bindingGO:00506619.1CAT, G6PD, NOS1, SPR
5protein homodimerization activityGO:00428037.6CAT, G6PD, GCH1, NOS1, PAH, PRKG2

Sources for Hyperphenylalaninemia

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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