MCID: HYP141
MIFTS: 44

Hyperphenylalaninemia malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Hyperphenylalaninemia

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

Aliases & Descriptions for Hyperphenylalaninemia:

Name: Hyperphenylalaninemia 68 22 47 51
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 238583
ICD10 via Orphanet28 E70.1
UMLS via Orphanet66 C0751436

Summaries for Hyperphenylalaninemia

About this section
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 phenylketonuria and segawa syndrome, recessive. 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 brain, testes and bone, and related mouse phenotypes are vision/eye and behavior/neurological.

Related Diseases for Hyperphenylalaninemia

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Diseases in the Hyperphenylalaninemia family:

Benign Hyperphenylalaninemia

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

(show top 50)    (show all 253)
idRelated DiseaseScoreTop Affiliating Genes
1phenylketonuria30.5BGLAP, G6PD, GCH1, PAH, PTS, QDPR
2segawa syndrome, recessive30.1GCH1, TH
3speech and communication disorders30.1G6PD, SOD1
4schizophrenia28.8CACNA1C, CNP, MBP, NOS1, TH, TPH1
5mild hyperphenylalaninemia10.7
6maternal hyperphenylalaninemia10.7
7hyperphenylalaninemia, bh4-deficient, d10.6
8hyperphenylalaninemia, bh4-deficient, a10.6
9tetrahydrobiopterin deficiency10.6
10benign hyperphenylalaninemia10.5
11adrenal gland disease10.5
12pituitary gland disease10.5
13hyperphenylalaninemia, bh4-deficient, c10.5
14hypothalamic disease10.5
15hyperphenylalaninemia, bh4-deficient, b10.5
16hyperphenylalaninemia due to dehydratase deficiency10.4
17encephalopathy10.4
18skin conditions10.4
19skin disease10.4
20cerebritis10.4
21amino acid metabolic disorder10.4
22prion disease10.4
23genetic brain disorders10.4
24inborn amino acid metabolism disorder10.4
25gtp cyclohydrolase i deficiency10.4
26mood disorder10.4
27psoriasis10.3
28skin tag10.3
29nutritional deficiency disease10.3
30psoriasis 210.3
31drug rash with eosinophilia and systemic symptoms10.3
32dystonia, dopa-responsive, with or without hyperphenylalaninemia10.3
33asthma10.3
34nose disease10.3
35tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria10.2
36allergic rhinitis10.2
37allergic asthma10.2
38rhinitis10.2
39secondary adrenal insufficiency10.2
40intestinal pseudo-obstruction10.2NOS1, PTS
41atopy10.2
42asthma 210.2
43asthma 110.2
44neurotic disorder10.2
45mental depression10.2
46dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.2
47dystonia10.2
48mineral metabolism disease10.2
49mild phenylketonuria10.2
50mini stroke10.1CAT, SOD1

Graphical network of the top 20 diseases related to Hyperphenylalaninemia:



Diseases related to hyperphenylalaninemia

Symptoms for Hyperphenylalaninemia

About this section

Drugs & Therapeutics for Hyperphenylalaninemia

About this section

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerapamilapprovedPhase 4, Phase 111252-53-92520
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
2Calcium, DietaryPhase 4, Phase 13529
3phenylalanineNutraceuticalPhase 3, Phase 2130
4
NorgestimateapprovedPhase 133935189-28-76540478
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
5
Ethinyl EstradiolapprovedPhase 163657-63-65991
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
6
Estradiolapproved, investigationalPhase 1105750-28-25757, 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
7
Moxifloxacinapproved, investigationalPhase 1394354812-41-2152946
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
8Polyestradiol phosphatePhase 11057
9Norgestimate, ethinyl estradiol drug combinationPhase 1394
10Estradiol 3-benzoatePhase 11057
11Contraceptives, Oral, CombinedPhase 1548
12Estradiol 17 beta-cypionatePhase 11083
13Estradiol valeratePhase 11057979-32-8
14tyrosineNutraceutical547

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
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.8CNP, MBP, NOS1, PAH, PCBD1, SOD1
2MP:00053866.1CACNA1C, CNP, MBP, NEFH, NOS1, PAH
3MP:00036315.9CACNA1C, CNP, G6PD, MBP, NEFH, NOS1
4MP:00053765.1CACNA1C, CAT, CNP, G6PD, MBP, NOS1

Publications for Hyperphenylalaninemia

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Articles related to Hyperphenylalaninemia:

(show top 50)    (show all 294)
idTitleAuthorsYear
1
Micronutrient in hyperphenylalaninemia. (26322328)
2015
2
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies. (22205310)
2012
3
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
4
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. (18276179)
2008
5
Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. (18346471)
2008
6
Diagnosis, treatment and long-term following up of 223 patients with hyperphenylalaninemia detected by neonatal screening programs]. (17708870)
2007
7
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder? (16182582)
2005
8
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. (14681498)
2004
9
Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. (11997085)
2002
10
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
11
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
12
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
13
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia. (10767173)
2000
14
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
15
Neuropsychological function in mild hyperphenylalaninemia. (10755172)
2000
16
Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates. (10404727)
1999
17
Mutations causing hereditary hyperphenylalaninemia]. (10910639)
1999
18
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. (9521426)
1998
19
Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non- phenylketonuria hyperphenylalaninemia. (9852673)
1998
20
Identification of Mutations Causing 6-Pyruvoyl- Tetrahydrobiopterin Synthase Deficiency in Polish Patients With Variant Hyperphenylalaninemia. (10089284)
1998
21
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. (8682503)
1996
22
Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia. (7749420)
1995
23
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (7508163)
1993
24
Elevated phenylalanine concentrations in benign hyperphenylalaninemia from evaporated milk feedings. (8432076)
1993
25
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
26
A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. (1301942)
1992
27
On the mechanism of permanent brain dysfunction in hyperphenylalaninemia. (1793607)
1991
28
Cognitive profile of rats exposed to lactational hyperphenylalaninemia: correspondence with human mental retardation. (2379759)
1990
29
Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria. (2740145)
1989
30
Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin. (2675577)
1989
31
Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia. (3382399)
1988
32
Hyperphenylalaninemia syndromes: current status of diagnosis and management. (3286956)
1988
33
Effects of hyperphenylalaninemia in the fetal stage on the postnatal development of fetal rat brain. (2997643)
1985
34
Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. (6727966)
1984
35
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals. (7106768)
1982
36
Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats. (6257849)
1981
37
Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis. (7262099)
1981
38
Effect of hyperphenylalaninemia on Na+ + K+-ATPase in rat brain. (6118285)
1981
39
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. (7367090)
1980
40
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. (978323)
1976
41
Alpha-methylphenylalanine, a new inducer of chronic hyperphenylalaninemia in sucling rats. (944951)
1976
42
Tolerance of protein and lipid synthesis to mild hyperphenylalaninemia in developing rat brain. (1174961)
1975
43
Lipid metabolism in liver and brain in acute hyperphenylalaninemia in rats of different ages. Correlation with tissue phenylalanine and tyrosine levels. (4844245)
1974
44
Effect of hyperphenylalaninemia on fatty acid composition of lipids of rat brain myelin. (4357501)
1973
45
Experimental maternal hyperphenylalaninemia: disaggregation of fetal brain ribosomes. (4269294)
1973
46
Persistent hyperphenylalaninemia. (5021455)
1972
47
Sex ratio in hyperphenylalaninemia. (5434124)
1970
48
Hyperphenylalaninemia: the effect of cerebral amino acid levels during development. (5404016)
1969
49
Role of hyperphenylalaninemia in pregnant women as a cause of mental retardation in offspring. (6042624)
1967
50
Dietary induction of hyperphenylalaninemia in the rat. (6067644)
1967

Variations for Hyperphenylalaninemia

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Clinvar genetic disease variations for Hyperphenylalaninemia:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1PCBD1NM_000281.3(PCBD1): c.259G> T (p.Glu87Ter)single nucleotide variantPathogenicrs104894172GRCh37Chr 10, 72643763: 72643763
2PCBD1NM_000281.3(PCBD1): c.244T> C (p.Cys82Arg)single nucleotide variantPathogenicrs104894177GRCh37Chr 10, 72643778: 72643778
3PCBD1NM_000281.3(PCBD1): c.236C> T (p.Thr79Ile)single nucleotide variantPathogenicrs121913014GRCh37Chr 10, 72643786: 72643786
4PCBD1NM_000281.3(PCBD1): c.292C> T (p.Gln98Ter)single nucleotide variantPathogenicrs121913015GRCh37Chr 10, 72643730: 72643730
5PCBD1NM_000281.3(PCBD1): c.263G> A (p.Arg88Gln)single nucleotide variantPathogenicrs115117837GRCh37Chr 10, 72643759: 72643759
6PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
7PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
8PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
9PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
10PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
11PTSNM_000317.2(PTS): c.163+694_163+748deldeletionPathogenicGRCh38Chr 11, 112229367: 112229421
12PTSNM_000317.2(PTS): c.84-323A> Tsingle nucleotide variantPathogenicrs794726657GRCh38Chr 11, 112228271: 112228271
13QDPRQDPR, 3-BP INS, 390ACTinsertionPathogenic
14QDPRNM_000320.2(QDPR): c.68G> A (p.Gly23Asp)single nucleotide variantPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
15QDPRNM_000320.2(QDPR): c.322T> G (p.Trp108Gly)single nucleotide variantPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
16QDPRNM_000320.2(QDPR): c.106T> C (p.Trp36Arg)single nucleotide variantPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
17QDPRQDPR, IVS3, A-G, 152-BP INSinsertionPathogenic
18QDPRNM_000320.2(QDPR): c.449A> G (p.Tyr150Cys)single nucleotide variantPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
19QDPRNM_000320.2(QDPR): c.270G> A (p.Trp90Ter)single nucleotide variantPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027
20GCH1NM_000161.2(GCH1): c.633G> A (p.Met211Ile)single nucleotide variantPathogenicrs104894443GRCh37Chr 14, 55310855: 55310855
21GCH1NM_000161.2(GCH1): c.551G> A (p.Arg184His)single nucleotide variantPathogenicrs104894445GRCh37Chr 14, 55312561: 55312561

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 13)
idSuper pathways (with members indented)ScoreTop 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
7
Show member pathways
9.3GCH1, PRKG2, PTS, SPR
89.2SOD1, TH
9
Show member pathways
9.1PAH, TH, TPH1
10
Show member pathways
9.1CAT, NEFH, NOS1, SOD1
119.0CACNA1C, TH
127.5CNP, MBP, NEFH, NOS1, SOD1, TH
13
Show member pathways
5.9CACNA1C, 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
1cell projectionGO:00429959.6BGLAP, CNP, MBP
2perikaryonGO:00432049.5BGLAP, NEFH, TH
3myelin sheathGO:00432099.2CNP, MBP, NEFH, SOD1
4neuron projectionGO:00430059.1QDPR, SOD1, TH, TPH1
5dendriteGO:00304258.8BGLAP, CACNA1C, NOS1, TH
6neuronal cell bodyGO:00430258.6CACNA1C, MBP, SOD1, TH
7mitochondrionGO:00057397.3CAT, NEFH, NOS1, PTS, QDPR, SOD1
8cytosolGO:00058295.4CACNA1C, CAT, G6PD, GCH1, NOS1, PAH
9cytoplasmGO:00057375.4BGLAP, CACNA1C, CNP, G6PD, GCH1, NEFH

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.7GCH1, QDPR
2L-phenylalanine metabolic processGO:000655810.6PAH, SPR
3tetrahydrobiopterin metabolic processGO:004614610.6PAH, SPR
4L-phenylalanine catabolic processGO:000655910.4PAH, PCBD1, QDPR
5response to vitamin EGO:003319710.4CAT, NOS1
6neurofilament cytoskeleton organizationGO:006005210.3NEFH, SOD1
7nitric oxide biosynthetic processGO:000680910.1GCH1, NOS1, SPR
8regulation of organ growthGO:004662010.1CACNA1C, SOD1
9response to immobilization stressGO:00359029.9TH, TPH1
10cellular response to oxidative stressGO:00345999.9G6PD, NEFH, SOD1
11substantia nigra developmentGO:00217629.9CNP, G6PD, MBP
12response to lead ionGO:00102889.8CAT, NOS1, QDPR
13dopamine biosynthetic processGO:00424169.8GCH1, TH
14aromatic amino acid family metabolic processGO:00090729.8PAH, TH, TPH1
15catecholamine biosynthetic processGO:00424239.8PAH, TH
16tetrahydrobiopterin biosynthetic processGO:00067299.8GCH1, PCBD1, PTS, QDPR, SPR
17regulation of blood pressureGO:00082179.7CACNA1C, GCH1, SOD1
18nitric oxide metabolic processGO:00462099.7GCH1, PRKG2, PTS, SPR
19regulation of nitric-oxide synthase activityGO:00509999.7GCH1, PRKG2, PTS, SPR
20neurotransmitter biosynthetic processGO:00421369.6NOS1, PAH, TH
21response to toxic substanceGO:00096369.3CAT, CNP, MBP
22response to lipopolysaccharideGO:00324969.1CNP, GCH1, NOS1, TH
23response to organic cyclic compoundGO:00140709.1BGLAP, G6PD, NOS1, TH
24cellular response to growth factor stimulusGO:00713638.9BGLAP, CAT, NOS1, TH
25cellular nitrogen compound metabolic processGO:00346418.9PAH, PCBD1, QDPR, TH, TPH1
26response to nutrient levelsGO:00316678.7BGLAP, NOS1, SOD1, TH
27response to activityGO:00148238.5BGLAP, CAT, NOS1, TH
28response to drugGO:00424938.3BGLAP, CAT, SOD1, TH
29agingGO:00075688.1BGLAP, CAT, CNP, NOS1, SOD1
30response to ethanolGO:00454718.0BGLAP, CAT, G6PD, NOS1, SOD1, TH
31oxidation-reduction processGO:00551147.1CAT, G6PD, NOS1, PAH, PCBD1, QDPR
32small molecule metabolic processGO:00442816.3CACNA1C, CAT, G6PD, GCH1, PAH, PCBD1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.6PAH, PCBD1
2tetrahydrobiopterin bindingGO:00346179.9NOS1, TH
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:00167149.7PAH, TH, TPH1
4monooxygenase activityGO:00044979.5PAH, TH, TPH1
5NADP bindingGO:00506619.3CAT, G6PD, NOS1, SPR
6amino acid bindingGO:00165979.3PAH, TH, TPH1
7iron ion bindingGO:00055069.2NOS1, PAH, TH, TPH1
8enzyme bindingGO:00198998.0CACNA1C, CAT, NOS1, SOD1, TH
9protein homodimerization activityGO:00428037.7CAT, G6PD, GCH1, NOS1, PAH, PRKG2

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