MCID: TTR005
MIFTS: 41

Tetrahydrobiopterin Deficiency malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Tetrahydrobiopterin Deficiency

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Aliases & Descriptions for Tetrahydrobiopterin Deficiency:

Name: Tetrahydrobiopterin Deficiency 69 46 24
Hyperphenylalaninemia, Non-Phenylketonuric 46 24 66
Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism 46 24
 
Non-Phenylketonuric Hyperphenylalaninemia 46 24
Bh4 Deficiency 46 24

Classifications:



Summaries for Tetrahydrobiopterin Deficiency

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NIH Rare Diseases:46 Tetrahydrobiopterin (bh4) deficiency is a neurological condition caused by an inborn error of metabolism. bh4 is a substance in the body that enhances the action of other enzymes. deficiency of bh4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. signs and symptoms can range from very mild to severe. affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. bh4 deficiency is caused by mutations in any one of several genes including the gch1, pcbd1, pts, and qdpr genes. it is inherited in an autosomal recessive manner.treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral bh4 supplementation; and neurotransmitter replacement. last updated: 11/2/2012

MalaCards based summary: Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia, non-phenylketonuric, is related to hypoxia and hyperphenylalaninemia. An important gene associated with Tetrahydrobiopterin Deficiency is GCH1 (GTP Cyclohydrolase 1), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and NO-dependent CFTR activation (normal and CF). Affiliated tissues include brain and endothelial, and related mouse phenotypes are pigmentation and liver/biliary system.

Genetics Home Reference:24 Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.

Wikipedia:69 Tetrahydrobiopterin deficiency (THBD, BH4D), also called THB or BH4 deficiency, is a rare metabolic... more...

Related Diseases for Tetrahydrobiopterin Deficiency

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1hypoxia29.2GH1, SPR
2hyperphenylalaninemia11.3
3hyperphenylalaninemia, bh4-deficient, d11.2
4hyperphenylalaninemia, bh4-deficient, c10.9
5hyperphenylalaninemia, bh4-deficient, a10.9
6hyperphenylalaninemia due to dehydratase deficiency10.9
7gtp cyclohydrolase i deficiency10.9
8muller barth menger syndrome10.6DHFR, QDPR
9vulvar glandular tumor10.6NOS1, PTS
10sleep apnea10.5GCH1, PTS
11plummer's disease10.5PAH, QDPR
12ostertagiasis10.5GCH1, PTS
13embryoma10.5NOS3, PTS
14ileocolitis10.4NOS1, NOS3
15hyperhomocysteinemia10.3PTS, QDPR
16thrombocytopenia due to platelet alloimmunization10.3NOS1, NOS3
17endotheliitis10.1
18hemiplegia alterans10.1PRL, SOD1
19fumarate hydratase deficiency10.1GH1, PRL
20vulvovaginal gingival syndrome10.0PAH, PCBD1, PTS, QDPR
21ovarian mucinous malignant adenofibroma10.0GH1, PRL
22aneurysm or dilatation of ascending aorta10.0GH1, PRL
23phenylketonuria10.0
24congenital bile acid synthesis defect10.0HPRT1, PTS
25urinary tract papillary transitional cell benign neoplasm10.0GCH1, SPR, TH
26megaloblastic anemia due to dihydrofolate reductase deficiency10.0
27hyperphenylalaninemia, bh4-deficient, b10.0
28central retinal vein occlusion10.0GH1, PRL
29hypothryoidism, congenital, nongoitrous 49.9GH1, PRL
30mental depression9.9NOS3, SOD1
31munchausen by proxy9.9NOS1, NOS3, PRL
32hepatitis c9.9NOS1, NOS3, PRL
33postural hypotension9.8GH1, PRL
34hyperprolactinemia9.8
35atherosclerosis9.8
36rabies9.8
37gastroparesis9.8
38dystonia9.8
39neuronitis9.8
40aortic valve atresia9.8GH1, PRL
41lipoadenoma9.7GH1, PRL
42noonan syndrome 19.6GCH1, PAH, PTS, QDPR, TH
43parkinson disease, late-onset9.3GCH1, NOS1, SOD1, SPR, TH
44isodicentric 158.7GCH1, NOS1, PAH, PCBD1, PTS, QDPR
4549, xxxxx5.6DHFR, GCH1, GH1, HPRT1, NOS1, NOS3

Graphical network of the top 20 diseases related to Tetrahydrobiopterin Deficiency:



Diseases related to tetrahydrobiopterin deficiency

Symptoms for Tetrahydrobiopterin Deficiency

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Drugs & Therapeutics for Tetrahydrobiopterin Deficiency

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1phenylalanineNutraceuticalPhase 2, Phase 3155
2
verapamilPhase 212352-53-92520
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
3calcium channel blockersPhase 21889
4
Nitric OxidePhase 258510102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
5
Vitamin CNutraceuticalPhase 248850-81-75785, 54670067
Synonyms:
(+)-Sodium L-ascorbate
(+)-ascorbate
(+)-ascorbic acid
(2R)-2-[(1S)-1,2-Dihydroxyethyl]-4,5-dihydroxy-furan-3-one
(2R)-2-[(1S)-1,2-dihydroxyethyl]-4,5-dihydroxyfuran-3-one
(5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one
129940-97-2
134-03-2 (monosodium salt)
14536-17-5
154170-90-8
2-(1,2-Dihydroxyethyl)-4,5-dihydroxyfuran-3-one
255564_SIAL
259133-78-3
3-Keto-L-gulofuranolactone
3-Oxo-L-gulofuranolactone
3-Oxo-L-gulofuranolactone (enol form)
30208-61-8
33034_RIEDEL
33034_SIAL
47863_SUPELCO
47A605F0-4187-47A8-B0CE-F9E7DA1B0076
50-81-7
50976-75-5
56172-55-5
56533-05-2
57304-74-2
57606-40-3
623158-95-2
6730-29-6
882690-91-7
884381-69-5
885512-24-3
88845-26-5
89924-69-6
95209_FLUKA
95209_SIGMA
95210_FLUKA
95210_SIAL
95212_FLUKA
A0278_SIGMA
A0537
A2174_SIGMA
A2218_SIGMA
A2343_SIGMA
A4403_SIGMA
A4544_SIGMA
A5960_SIGMA
A7506_SIGMA
A92902_ALDRICH
A92902_SIAL
AA
AB00376923
AB1002440
AC1L1L4T
AC1Q77S6
AR-1J3435
Acid Ascorbic
Acide ascorbique
Acide ascorbique [INN-French]
Acido ascorbico
Acido ascorbico [INN-Spanish]
Acidum ascorbicum
Acidum ascorbicum [INN-Latin]
Acidum ascorbinicum
Adenex
Allercorb
Ambap36431-82-0
Antiscorbic Vitamin
Antiscorbic vitamin
Antiscorbutic Vitamin
Antiscorbutic factor
Antiscorbutic vitamin
Arco-Cee
Arco-cee
Ascoltin
Ascoltin (TN)
Ascor-B.I.D.
Ascorb
Ascorbajen
Ascorbate
Ascorbic Acid
Ascorbic Acid, Monosodium Salt
Ascorbic acid
Ascorbic acid (JP15/USP/INN)
Ascorbic acid [BAN:INN:JAN]
Ascorbic acid [INN:BAN:JAN]
Ascorbicab
Ascorbicap
Ascorbicap (TN)
Ascorbicin
Ascorbin
Ascorbinsaeure
Ascorbinsäure
Ascorbutina
Ascorbyl radical
Ascorin
Ascorteal
Ascorvit
BPBio1_000363
BSPBio_000329
C-Level
C-Long
C-Quin
C-Span
C-Vimin
C00072
C6H8O6
CCRIS 57
CE-VI-Sol
CHEBI:29073
CHEMBL196
CID5785
Cantan
Cantaxin
Caswell No. 061B
Catavin C
Ce Lent
Ce lent
Ce-Mi-Lin
Ce-mi-lin
Ce-vi-sol
Cebicure
Cebid
Cebion
Cebione
Cecon
Cee-Caps TD
Cee-Caps Td
Cee-Vite
Cee-caps TD
Cee-vite
Cegiolan
Ceglion
Ceklin
Celaskon
Celin
Cell C
Cemagyl
Cemill
Cenetone
Cenolate
Cereon
Cergona
Cescorbat
Cetamid
Cetane
Cetane-Caps TC
Cetane-Caps TD
Cetane-Caps Tc
Cetane-Caps Td
Cetane-caps TC
Cetane-caps TD
Cetebe
 
Cetemican
Cevalin
Cevatine
Cevex
Cevi-Bid
Cevi-bid
Cevimin
Cevital
Cevitamate
Cevitamic Acid
Cevitamic acid
Cevitamin
Cevitan
Cevitex
Cewin
Chewcee
Ciamin
Cipca
Citriscorb
Citrovit
Colascor
Concemin
Cortalex
D00018
DB00126
Davitamon C
Dora-C-500
Duoscorb
EINECS 200-066-2
FEMA No. 2109
Ferancee
Ferrous ascorbate
HSDB 818
HiCee
Hicee
Hybrin
IDO-C
Ido-C
Iron(II) ascorbate
Iron-ascorbic acid complexes
Juvamine
Kangbingfeng
Kyselina Askorbova
Kyselina askorbova
Kyselina askorbova [Czech]
L(+)-Ascorbate
L(+)-Ascorbic acid
L-(+)-Ascorbate
L-(+)-Ascorbic Acid
L-(+)-Ascorbic acid
L-(+)-ascorbic acid
L-3-Ketothreohexuronic acid lactone
L-3-ketothreohexuronic acid
L-Ascorbate
L-Ascorbic Acid
L-Ascorbic acid
L-Ascorbic acid, free radical form
L-Lyxoascorbate
L-Lyxoascorbic Acid
L-Lyxoascorbic acid
L-Threo-ascorbic acid
L-Threoascorbic acid
L-Xyloascorbate
L-Xyloascorbic Acid
L-Xyloascorbic acid
L-ascorbate
L-threo-Hex-2-enonic acid, gamma-lactone
L-threo-ascorbic acid
L-threo-hex-2-enono-1,4-lactone
LS-145
Laroscorbine
Lemascorb
Liqui-Cee
Liqui-cee
MLS002153776
Magnesium Ascorbicum
Magnorbin
Meri-C
Meri-c
MolPort-001-792-501
Monodehydroascorbic acid
NCGC00091517-01
NCGC00091517-02
NCGC00164357-01
NCI-C54808
NSC 33832
Natrascorb
Natrascorb injectable
Oral Vitamin C
Planavit C
Prestwick3_000325
Proscorbin
Redoxon
Ribena
Ronotec 100
Rontex 100
Roscorbic
Rovimix C
SMR001233160
Scorbacid
Scorbu C
Scorbu-C
Secorbate
Semidehydroascorbate
Sodascorbate
Sodium Ascorbate (Ascorbic Acid)
Stuartinic
Suncoat VC 40
Sunkist
Testascorbic
Tolfrinic
UNII-PQ6CK8PD0R
VASC
Vicelat
Vicin
Vicomin C
Viforcit
Viscorin
Viscorin 100M
Vitace
Vitacee
Vitacimin
Vitacin
Vitamin C
Vitamin- C
Vitamin-?C
Vitamisin
Vitascorbol
W210901_ALDRICH
Xitix
acide ascorbique
acidum ascorbicum
acidum ascorbinicum
antiscorbic vita min
ascor-b.i.d
ascorbate
ascorbic acid
bmse000182
cee-caps td
cevibid
component of Cortalex
component of E and C-Level
component of Endoglobin Forte
component of Ferancee
gamma-Lactone L-threo-Hex-2-enonate
gamma-Lactone L-threo-Hex-2-enonic acid
l-ascorbic acid
l-threo-hex-1-eofuranos-3-ulose
nchembio.174-comp5
nchembio.89-comp1
nchembio.92-comp2
nchembio821-comp9
roscorbi c
vitamin C
ácido ascórbico
6Estradiol valeratePhase 01250979-32-8
7
CetrorelixPhase 063120287-85-616129715, 25074887
Synonyms:
120287-85-6
Ac-D-Nal(2)-D-Phe(pCl)-D-Pal(3)-Ser-Tyr-D-Cit-Leu-Arg-Pro-D-Ala-NH2
CHEBI:59224
CHEMBL1200490
Cetrorelix
Cetrorelix (INN)
Cetrorelixum
 
Cetrorelixum [INN-Latin]
Cetrotide (TN)
D07665
HS-2008
N-acetyl-3-(2-naphthyl)-D-alanyl-4-chloro-D-phenylalanyl-3-(3-pyridyl)-D-alanyl-L-seryl-L-tyrosyl-N5-carbomoyl-D-ornithyl-L-leucyl-L-prolyl-D-alaninamide
N-acetyl-3-(naphthalen-2-yl)-D-alanyl-4-chloro-D-phenylalanyl-3-(pyridin-3-yl)-D-alanyl-L-seryl-L-tyrosyl-N(5)-carbamoyl-D-ornithyl-L-leucyl-L-arginyl-L-prolyl-D-alaninamide
SB 75
SB-75
8
EstradiolPhase 0125050-28-25757, 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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyTerminatedNCT00432822Phase 2, Phase 3
2Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyCompletedNCT00355264Phase 2
3A Phase 2, Pharmacokinetic Study of the Effects of 6R-BH4 Alone or 6R-BH4 With Vitamin C in Subjects With Endothelial DysfunctionCompletedNCT00532844Phase 2
4A Study of the Effects of 6R-BH4 on Blood Pressure in Subjects With Poorly Controlled Systemic HypertensionCompletedNCT00325962Phase 2
5Study of Kuvan Treatment in Adults With GTPCH DeficiencyCompletedNCT01425528Phase 1, Phase 2
6Sapropterin Expanded Access ProgramApproved for marketingNCT00484991
7Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 DeficiencyRecruitingNCT01016392
8Sex Hormones and Atherosclerosis Prevention in Perimenopausal WomenRecruitingNCT02042196Phase 0

Search NIH Clinical Center for Tetrahydrobiopterin Deficiency

Genetic Tests for Tetrahydrobiopterin Deficiency

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Anatomical Context for Tetrahydrobiopterin Deficiency

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MalaCards organs/tissues related to Tetrahydrobiopterin Deficiency:

34
Brain, Endothelial

Animal Models for Tetrahydrobiopterin Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Tetrahydrobiopterin Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPRT1, PAH, PCBD1, PTS
2MP:00053707.9HPRT1, NOS1, NOS3, PRL, SOD1, TH
3MP:00053897.7HPRT1, NOS1, NOS3, PAH, PRL, PTS
4MP:00107717.7HPRT1, PAH, PCBD1, PRL, PTS, SOD1
5MP:00053917.5HPRT1, NOS1, NOS3, PAH, PCBD1, SOD1
6MP:00053797.3HPRT1, NOS1, NOS3, PRL, PTS, SOD1
7MP:00036316.6HPRT1, NOS1, NOS3, PAH, PRL, PTS
8MP:00053866.5HPRT1, NOS1, NOS3, PAH, PRL, PTS
9MP:00053765.9HPRT1, NOS1, NOS3, PAH, PCBD1, PRL

Publications for Tetrahydrobiopterin Deficiency

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Articles related to Tetrahydrobiopterin Deficiency:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency. (26515614)
2015
2
Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. (25418970)
2015
3
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. (25304915)
2014
4
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran. (24497712)
2013
5
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing. (23942198)
2013
6
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. (22832064)
2013
7
Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. (23138986)
2013
8
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. (21416196)
2011
9
Autophagy induction by tetrahydrobiopterin deficiency. (21795851)
2011
10
Tetrahydrobiopterin deficiency and nitric oxide synthase uncoupling contribute to atherosclerosis induced by disturbed flow. (21512164)
2011
11
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency. (20458544)
2010
12
Tetrahydrobiopterin deficiency in human rabies. (18949578)
2009
13
The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]. (19534905)
2009
14
Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency]. (18505119)
2008
15
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states. (17242981)
2007
16
Study on tetrahydrobiopterin deficiency in Northern Chinese population]. (16767663)
2006
17
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury. (15774769)
2005
18
Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency. (15390004)
2004
19
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease. (15159647)
2004
20
Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China. (11940335)
2002
21
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. (11902126)
2002
22
Tetrahydrobiopterin deficiency increases neuronal vulnerability to hypoxia. (12358762)
2002
23
Cranial MR spectroscopy of tetrahydrobiopterin deficiency. (12063241)
2002
24
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. (11592814)
2001
25
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (10874306)
2000
26
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency. (10765502)
2000
27
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. (9545000)
1998
28
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients. (8864759)
1996
29
Monitoring treatment in tetrahydrobiopterin deficiency by serum prolactin. (8739973)
1996
30
International database of tetrahydrobiopterin deficiencies. (8830181)
1996
31
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency. (8801112)
1995
32
Possible high frequency of tetrahydrobiopterin deficiency in south Brazil. (7967477)
1994
33
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue. (7923811)
1994
34
A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. (7698774)
1994
35
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency. (8304124)
1993
36
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (8326489)
1993
37
Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases. (7609463)
1993
38
Tetrahydrobiopterin deficiency and an international database of patients. (8304121)
1993
39
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia. (7508163)
1993
40
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria. (1289568)
1992
41
Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper. (1405479)
1992
42
Gastrointestinal serotonin: depletion due to tetrahydrobiopterin deficiency induced by 2,4-diamino-6-hydroxypyrimidine administration. (1825228)
1991
43
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). (2646129)
1989
44
Problems in the diagnosis of tetrahydrobiopterin deficiency. (3391231)
1988
45
Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. (3276524)
1988
46
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. (3297709)
1987
47
Differential diagnosis of tetrahydrobiopterin deficiency. (3930839)
1985
48
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. (3930840)
1985
49
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). (7365585)
1980
50
Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin. (445845)
1979

Variations for Tetrahydrobiopterin Deficiency

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Expression for genes affiliated with Tetrahydrobiopterin Deficiency

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Search GEO for disease gene expression data for Tetrahydrobiopterin Deficiency.

Pathways for genes affiliated with Tetrahydrobiopterin Deficiency

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Pathways related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8PAH, QDPR
29.7NOS1, NOS3
39.7NOS1, NOS3
4
Show member pathways
9.7NOS1, NOS3
5
Show member pathways
9.7NOS1, NOS3
6
Show member pathways
9.6PAH, TH
7
Show member pathways
9.5PAH, PCBD1, QDPR
89.5SOD1, TH
99.4DHFR, HPRT1
109.3GH1, PRL
11
Show member pathways
9.3NOS1, NOS3, SOD1
12
Show member pathways
9.3NOS1, NOS3, SOD1
139.1DHFR, GCH1, PTS, QDPR, SPR
14
Show member pathways
9.0DHFR, GCH1, NOS3, PTS, SPR
15
Show member pathways
6.3DHFR, GCH1, HPRT1, NOS1, NOS3, PAH

GO Terms for genes affiliated with Tetrahydrobiopterin Deficiency

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Cellular components related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic vesicleGO:00314109.3GCH1, SOD1, TH
2cytoplasmGO:00057376.5GCH1, HPRT1, NOS1, NOS3, PCBD1, PTS
3cytosolGO:00058296.0DHFR, GCH1, HPRT1, NOS1, NOS3, PAH

Biological processes related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.6GCH1, QDPR
2regulation of removal of superoxide radicalsGO:200012110.4DHFR, GCH1
3positive regulation of nitric-oxide synthase activityGO:005100010.4DHFR, GCH1
4positive regulation of guanylate cyclase activityGO:003128410.4NOS1, NOS3
5tetrahydrofolate biosynthetic processGO:004665410.4DHFR, GCH1
6negative regulation of hydrolase activityGO:005134610.4NOS1, NOS3
7negative regulation of calcium ion transportGO:005192610.3NOS1, NOS3
8negative regulation of potassium ion transportGO:004326710.3NOS1, NOS3
9positive regulation of vasodilationGO:004590910.3NOS1, NOS3
10arginine catabolic processGO:000652710.2NOS1, NOS3
11nitric oxide mediated signal transductionGO:000726310.2NOS1, NOS3
12response to lead ionGO:001028810.2NOS1, QDPR
13removal of superoxide radicalsGO:001943010.2NOS3, SOD1
14dopamine biosynthetic processGO:004241610.2GCH1, TH
15L-phenylalanine catabolic processGO:000655910.1PAH, PCBD1, QDPR
16catecholamine biosynthetic processGO:004242310.0PAH, TH
17regulation of sodium ion transportGO:000202810.0NOS1, NOS3
18JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.0GH1, PRL
19positive regulation of JAK-STAT cascadeGO:00464279.8GH1, PRL
20regulation of blood pressureGO:00082179.8GCH1, NOS3, SOD1
21neurotransmitter biosynthetic processGO:00421369.8NOS1, PAH, TH
22nitric oxide biosynthetic processGO:00068099.7GCH1, NOS1, NOS3, SPR
23response to heatGO:00094089.7NOS1, NOS3, SOD1
24regulation of nitric-oxide synthase activityGO:00509999.6GCH1, NOS3, PTS, SPR
25regulation of multicellular organism growthGO:00400149.6PRL, SOD1
26response to ethanolGO:00454719.2NOS1, SOD1, TH
27negative regulation of blood pressureGO:00457769.2GCH1, NOS1, NOS3
28tetrahydrobiopterin biosynthetic processGO:00067299.2DHFR, GCH1, PCBD1, PTS, QDPR, SPR
29locomotory behaviorGO:00076268.7HPRT1, SOD1, TH
30response to amphetamineGO:00019758.7HPRT1, SOD1, TH
31oxidation-reduction processGO:00551147.5DHFR, NOS1, NOS3, PAH, PCBD1, QDPR

Molecular functions related to Tetrahydrobiopterin Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.4PAH, PCBD1
2nitric-oxide synthase activityGO:000451710.4NOS1, NOS3
3arginine bindingGO:003461810.4NOS1, NOS3
4cadmium ion bindingGO:004687010.4NOS1, NOS3
5NADPH bindingGO:007040210.2DHFR, QDPR
6FMN bindingGO:001018110.0NOS1, NOS3
7prolactin receptor bindingGO:000514810.0GH1, PRL
8tetrahydrobiopterin bindingGO:00346179.8NOS1, NOS3, TH
9iron ion bindingGO:00055069.7NOS1, NOS3, PAH
10amino acid bindingGO:00165979.6PAH, TH
11NADP bindingGO:00506619.6NOS1, NOS3, SPR
12protein homodimerization activityGO:00428037.7GCH1, HPRT1, NOS1, PAH, PTS, QDPR

Sources for Tetrahydrobiopterin Deficiency

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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