HPABH4B
MCID: HYP605
MIFTS: 45

Hyperphenylalaninemia, Bh4-Deficient, B (HPABH4B)

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, B

MalaCards integrated aliases for Hyperphenylalaninemia, Bh4-Deficient, B:

Name: Hyperphenylalaninemia, Bh4-Deficient, B 56 52 73 13 71
Gtp Cyclohydrolase I Deficiency 56 52 58 29 54 6 39
Hpabh4b 56 73
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase I Deficiency 56
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency 52
Atypical Severe Phenylketonuria Due to Gtp Cyclohydrolase I Deficiency 73
Hyperphenylalaninemia Due to Gtp Cyclohydrolase Deficiency 58
Guanosine Triphosphate Cyclohydrolase I Deficiency 73
Hyperphenylalaninemia with Neopterin Deficiency 73
Gtpch Deficiency 58
Gch1 Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
gtp cyclohydrolase i deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
defect in tetrahydrobiopterin (bh4) synthesis
progressive neurologic deterioration if untreated
normal neonatal blood phenylalanine has been reported in rare patients
diurnal fluctuation of neurologic symptoms
treatment with bh4 is effective
neurotransmitter treatment with l-dopa and serotonin or precursors is effective
early treatment can reduce neurologic symptoms
autosomal dominant dopa-responsive dystonia (dyt5, ) is an allelic disorder with overlapping features


HPO:

31
hyperphenylalaninemia, bh4-deficient, b:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 233910
MeSH 43 D010661
ICD10 via Orphanet 33 E70.1
UMLS via Orphanet 72 C0268467
Orphanet 58 ORPHA2102
MedGen 41 C0268467
UMLS 71 C0268467

Summaries for Hyperphenylalaninemia, Bh4-Deficient, B

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2102 Definition GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. Clinical description When left untreated, the deficiency causes neurological signs at age 4 or 5 months, although clinical signs are often obvious from birth. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Diagnostic methods GTP-cyclohydrolase I deficiency should be suspected in all infants with a positive neonatal screening test for phenylketonuria, especially when hyperphenylalaninemia is moderate. The most effective way to diagnose the disorder is to measure pteridine levels in urine and to confirm the result by measuring neurotransmitters (5-hydroxyindolacetic acid, homovanillic acid) in cerebrospinal fluid and with an oral tetrahydrobiopterin-loading test (20 mg/kg). Management and treatment The treatment attempts to bring phenylalaninemia levels back to normal (diet with restricted phenylalanine intake or prescription of tetrahydrobiopterin) and to restore normal monoaminergic neurotransmission by administering precursors (L-dopa/carbidopa and 5-hydroxytryptophane). Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperphenylalaninemia, Bh4-Deficient, B, also known as gtp cyclohydrolase i deficiency, is related to hyperphenylalaninemia, bh4-deficient, a and dystonia, dopa-responsive, and has symptoms including seizures, tremor and lethargy. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, B is GCH1 (GTP Cyclohydrolase 1), and among its related pathways/superpathways are Metabolism of nitric oxide and Folate biosynthesis. The drugs Verapamil and Calcium have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and liver, and related phenotypes are seizures and abnormality of eye movement

UniProtKB/Swiss-Prot : 73 Hyperphenylalaninemia, BH4-deficient, B: A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.

More information from OMIM: 233910

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, B

Diseases in the Hyperphenylalaninemia, Bh4-Deficient, B family:

Hyperphenylalaninemia, Bh4-Deficient, C Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, D

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 30.8 QDPR PTS GCH1
2 dystonia, dopa-responsive 30.0 TH GCH1
3 segawa syndrome, autosomal recessive 30.0 TH GCH1
4 early-onset parkinson's disease 29.9 TH GCH1
5 movement disease 29.7 TH GCH1
6 hyperphenylalaninemia 29.0 TH QDPR PTS GCH1
7 dystonia 28.9 TH QDPR PTS GCH1
8 phenylketonuria 28.9 TH QDPR PTS GCH1
9 tetrahydrobiopterin deficiency 28.5 TH QDPR PTS GCH1
10 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 10.5
11 hypotonia 10.3
12 myoclonus 10.3
13 parkinson disease, late-onset 10.2
14 pulmonary hypertension 10.2
15 autonomic dysfunction 10.2
16 hypertonia 10.2
17 spasticity 10.2
18 tremor 10.1
19 hereditary dystonia 9.9 TH GCH1
20 dopamine beta-hydroxylase deficiency 9.9 TH GCH1
21 cervical dystonia 9.8 TH GCH1
22 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 9.8 QDPR GCH1
23 basal ganglia disease 9.7 QDPR GCH1
24 classic phenylketonuria 9.6 QDPR PTS
25 mild hyperphenylalaninemia 9.6 QDPR PTS
26 neurodegeneration with brain iron accumulation 9.5 TH GCH1
27 tyrosinemia 9.4 QDPR PTS
28 aromatic l-amino acid decarboxylase deficiency 9.2 QDPR PTS GCH1

Graphical network of the top 20 diseases related to Hyperphenylalaninemia, Bh4-Deficient, B:



Diseases related to Hyperphenylalaninemia, Bh4-Deficient, B

Symptoms & Phenotypes for Hyperphenylalaninemia, Bh4-Deficient, B

Human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, B:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 abnormality of eye movement 31 HP:0000496
3 tremor 31 HP:0001337
4 dysphagia 31 HP:0002015
5 global developmental delay 31 HP:0001263
6 irritability 31 HP:0000737
7 dystonia 31 HP:0001332
8 intellectual disability, progressive 31 HP:0006887
9 rigidity 31 HP:0002063
10 progressive neurologic deterioration 31 HP:0002344
11 choreoathetosis 31 HP:0001266
12 lethargy 31 HP:0001254
13 severe muscular hypotonia 31 HP:0006829
14 excessive salivation 31 HP:0003781
15 psychomotor retardation 31 HP:0025356
16 limb hypertonia 31 HP:0002509
17 hyperphenylalaninemia 31 HP:0004923
18 recurrent fever 31 HP:0001954
19 hyperkinetic movements 31 HP:0002487

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
tremor
dystonia
rigidity
choreoathetosis
more
Laboratory Abnormalities:
hyperphenylalaninemia
decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf
decreased neopterin and biopterin in urine
decreased neopterin and biopterin in csf
decreased or absent gch1 activity

Metabolic Features:
hyperthermia, episodic

Head And Neck Eyes:
abnormal ocular movements

Neurologic Behavioral Psychiatric Manifestations:
irritability

Growth Other:
poor feeding in infancy

Abdomen Gastrointestinal:
swallowing difficulties

Head And Neck Mouth:
hypersalivation

Clinical features from OMIM:

233910

UMLS symptoms related to Hyperphenylalaninemia, Bh4-Deficient, B:


seizures, tremor, lethargy, muscle rigidity

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, B

Drugs for Hyperphenylalaninemia, Bh4-Deficient, B (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verapamil Approved Phase 1, Phase 2 52-53-9 2520
2
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
3 Anti-Arrhythmia Agents Phase 1, Phase 2
4 Vasodilator Agents Phase 1, Phase 2
5 Calcium, Dietary Phase 1, Phase 2
6 calcium channel blockers Phase 1, Phase 2
7 Hormones Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study to Assess Impact of Kuvan® Supplementation as an Adjunct Treatment in Subjects With Dominantly-inherited GTPCH Deficiency on Mood, Behavioral and Motor Phenotypes Completed NCT01425528 Phase 1, Phase 2 Sapropterin

Search NIH Clinical Center for Hyperphenylalaninemia, Bh4-Deficient, B

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, B

Genetic tests related to Hyperphenylalaninemia, Bh4-Deficient, B:

# Genetic test Affiliating Genes
1 Gtp Cyclohydrolase I Deficiency 29 GCH1

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, B

MalaCards organs/tissues related to Hyperphenylalaninemia, Bh4-Deficient, B:

40
Testes, Eye, Liver, Endothelial, Brain

Publications for Hyperphenylalaninemia, Bh4-Deficient, B

Articles related to Hyperphenylalaninemia, Bh4-Deficient, B:

(show all 37)
# Title Authors PMID Year
1
Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 54 61 56 6
7730309 1995
2
A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program. 56 6
7869202 1995
3
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 54 56
9667588 1998
4
Differential diagnosis of tetrahydrobiopterin deficiency. 61 56
3930839 1985
5
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. 61 56
6734669 1984
6
The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency. 56
12891653 2003
7
Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency. 56
12552057 2003
8
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation. 56
10987649 1999
9
Biochemical defect of the hph-1 mouse mutant is a deficiency in GTP-cyclohydrolase activity. 56
3335865 1988
10
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening. 56
3822637 1987
11
Neonatal hyperphenylalaninemia presumably caused by guanosine triphosphate-cyclohydrolase deficiency. 56
3873535 1985
12
Hyperphenylalaninaemia caused by defects in biopterin metabolism. 56
3930837 1985
13
Biosynthesis of tetrahydrobiopterin in man. 56
3930838 1985
14
Disorders of biopterin metabolism. 54 61
19234759 2009
15
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? 54 61
16267845 2006
16
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. 54 61
16275037 2005
17
Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. 54 61
15389992 2004
18
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 54 61
12891655 2003
19
Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. 54 61
11571350 2001
20
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia. 54 61
10582612 1999
21
International database of tetrahydrobiopterin deficiencies. 54 61
8830181 1996
22
GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report. 61
31202265 2019
23
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. 61
21416196 2011
24
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. 61
20818608 2011
25
Dopa-responsive dystonia. 61
21496606 2011
26
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain). 54
19533203 2009
27
High-cholesterol diet augments endothelial dysfunction via elevated oxidative stress and reduced tetrahydrobiopterin in Ins2(Akita) mice, an autosomal dominant mutant type 1 diabetic model. 61
19207718 2009
28
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. 61
18276179 2008
29
Alterations in expression of dopamine receptors and neuropeptides in the striatum of GTP cyclohydrolase-deficient mice. 61
15530890 2004
30
[Molecular mechanisms of neurotransmission]. 61
11464453 2000
31
Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease. 54
10079965 1999
32
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. 54
10321973 1999
33
GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism. 54
9182249 1996
34
Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies. 61
2463916 1989
35
Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria. 61
3533549 1986
36
Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. 61
3159515 1985
37
GTP-cyclohydrolases: a review. 61
3891906 1985

Variations for Hyperphenylalaninemia, Bh4-Deficient, B

ClinVar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, B:

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GCH1 NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)SNV Pathogenic 9282 rs104894435 14:55369059-55369059 14:54902341-54902341
2 GCH1 NM_000161.3(GCH1):c.633G>A (p.Met211Ile)SNV Pathogenic 9287 rs104894443 14:55310855-55310855 14:54844137-54844137
3 GCH1 NM_000161.3(GCH1):c.551G>A (p.Arg184His)SNV Pathogenic 9290 rs104894445 14:55312561-55312561 14:54845843-54845843
4 GCH1 NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)SNV Pathogenic 381665 rs988395114 14:55312505-55312505 14:54845787-54845787
5 GCH1 NM_000161.3(GCH1):c.344-1G>CSNV Pathogenic 465761 rs1555360050 14:55332155-55332155 14:54865437-54865437
6 GCH1 NM_000161.3(GCH1):c.626+1G>ASNV Pathogenic 529415 rs1555358507 14:55312485-55312485 14:54845767-54845767
7 GCH1 NM_000161.3(GCH1):c.344-1G>ASNV Pathogenic 529413 rs1555360050 14:55332155-55332155 14:54865437-54865437
8 GCH1 NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)indel Pathogenic 529414 rs1555362845 14:55369185-55369196 14:54902467-54902478
9 GCH1 NC_000014.8:g.(?_55369019)_(55369401_?)deldeletion Pathogenic 529416 14:55369019-55369401 14:54902301-54902683
10 GCH1 NM_000161.3(GCH1):c.220_223del (p.Ala74fs)deletion Pathogenic 573159 rs1566687321 14:55369159-55369162 14:54902441-54902444
11 GCH1 NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)SNV Pathogenic 640160 14:55313826-55313826 14:54847108-54847108
12 GCH1 NM_000161.3(GCH1):c.248dup (p.Glu84fs)duplication Pathogenic 640887 14:55369133-55369134 14:54902415-54902416
13 GCH1 NM_000161.3(GCH1):c.127_130dup (p.Ala44fs)duplication Pathogenic 641586 14:55369251-55369252 14:54902533-54902534
14 GCH1 NM_000161.3(GCH1):c.76del (p.Asp26fs)deletion Pathogenic 647643 14:55369306-55369306 14:54902588-54902588
15 GCH1 NM_000161.3(GCH1):c.1A>G (p.Met1Val)SNV Pathogenic 642685 14:55369381-55369381 14:54902663-54902663
16 GCH1 NC_000014.8:g.(?_55332035)_(55332164_?)deldeletion Pathogenic 652965 14:55332035-55332164 14:54865317-54865446
17 GCH1 NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAGindel Pathogenic 641360 14:55326396-55326398 14:54859678-54859680
18 GCH1 NM_000161.3(GCH1):c.646C>T (p.Arg216Ter)SNV Pathogenic 803028 14:55310842-55310842 14:54844124-54844124
19 GCH1 NM_000161.3(GCH1):c.26_27insTCT (p.Ala10_Glu11insLeu)insertion Pathogenic 803029 14:55369355-55369356 14:54902637-54902638
20 GCH1 NM_000161.3(GCH1):c.632T>C (p.Met211Thr)SNV Likely pathogenic 635002 rs1566658823 14:55310856-55310856 14:54844138-54844138
21 GCH1 NM_000161.3(GCH1):c.281C>A (p.Thr94Lys)SNV Likely pathogenic 568970 rs1566687244 14:55369101-55369101 14:54902383-54902383
22 GCH1 NM_000161.3(GCH1):c.614T>A (p.Val205Glu)SNV Likely pathogenic 574828 rs1418922853 14:55312498-55312498 14:54845780-54845780
23 GCH1 NM_000161.3(GCH1):c.400G>A (p.Asp134Asn)SNV Conflicting interpretations of pathogenicity 459899 rs1353623780 14:55332098-55332098 14:54865380-54865380
24 GCH1 NM_000161.3(GCH1):c.*20C>TSNV Conflicting interpretations of pathogenicity 313388 rs143111433 14:55310715-55310715 14:54843997-54843997
25 GCH1 NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)SNV Conflicting interpretations of pathogenicity 9283 rs41298442 14:55310817-55310817 14:54844099-54844099
26 GCH1 NM_000161.3(GCH1):c.610G>A (p.Val204Ile)SNV Conflicting interpretations of pathogenicity 161248 rs200891969 14:55312502-55312502 14:54845784-54845784
27 GCH1 NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)SNV Conflicting interpretations of pathogenicity 161247 rs56127440 14:55369176-55369176 14:54902458-54902458
28 GCH1 NM_000161.3(GCH1):c.297C>T (p.Ala99=)SNV Conflicting interpretations of pathogenicity 313396 rs776450369 14:55369085-55369085 14:54902367-54902367
29 GCH1 NM_000161.3(GCH1):c.*715G>TSNV Uncertain significance 313380 rs886050545 14:55310020-55310020 14:54843302-54843302
30 GCH1 NM_000161.3(GCH1):c.627-12C>TSNV Uncertain significance 313390 rs886050549 14:55310873-55310873 14:54844155-54844155
31 GCH1 NM_000161.3(GCH1):c.*1257C>TSNV Uncertain significance 313366 rs763425111 14:55309478-55309478 14:54842760-54842760
32 GCH1 NM_000161.3(GCH1):c.-5G>CSNV Uncertain significance 313399 rs886050550 14:55369386-55369386 14:54902668-54902668
33 GCH1 NM_000161.3(GCH1):c.-98C>TSNV Uncertain significance 313402 rs886050552 14:55369479-55369479 14:54902761-54902761
34 GCH1 NM_000161.3(GCH1):c.*1907A>GSNV Uncertain significance 313358 rs886050542 14:55308828-55308828 14:54842110-54842110
35 GCH1 NM_000161.3(GCH1):c.*1473A>GSNV Uncertain significance 313363 rs886050543 14:55309262-55309262 14:54842544-54842544
36 GCH1 NM_000161.3(GCH1):c.543T>G (p.Val181=)SNV Uncertain significance 313393 rs765670568 14:55312569-55312569 14:54845851-54845851
37 GCH1 NM_000161.3(GCH1):c.*1824A>CSNV Uncertain significance 313359 rs754395380 14:55308911-55308911 14:54842193-54842193
38 GCH1 NM_000161.3(GCH1):c.*617A>GSNV Uncertain significance 313381 rs886050546 14:55310118-55310118 14:54843400-54843400
39 GCH1 NM_000161.3(GCH1):c.*507C>GSNV Uncertain significance 313383 rs886050547 14:55310228-55310228 14:54843510-54843510
40 GCH1 NM_000161.3(GCH1):c.*367G>ASNV Uncertain significance 313384 rs886050548 14:55310368-55310368 14:54843650-54843650
41 GCH1 NM_000161.3(GCH1):c.*278C>TSNV Uncertain significance 313385 rs756583192 14:55310457-55310457 14:54843739-54843739
42 GCH1 NM_000161.3(GCH1):c.-72C>TSNV Uncertain significance 313401 rs886050551 14:55369453-55369453 14:54902735-54902735
43 GCH1 NM_000161.3(GCH1):c.-106G>ASNV Uncertain significance 313403 rs886050553 14:55369487-55369487 14:54902769-54902769
44 GCH1 NM_000161.3(GCH1):c.*1283A>CSNV Uncertain significance 313365 rs886050544 14:55309452-55309452 14:54842734-54842734
45 GCH1 NM_000161.3(GCH1):c.*612C>TSNV Uncertain significance 313382 rs551381738 14:55310123-55310123 14:54843405-54843405
46 GCH1 NM_000161.3(GCH1):c.*155_*158AATA[1]short repeat Uncertain significance 313387 rs752359690 14:55310573-55310576 14:54843855-54843858
47 GCH1 NM_000161.3(GCH1):c.-56G>ASNV Uncertain significance 313400 rs866010535 14:55369437-55369437 14:54902719-54902719
48 GCH1 NM_000161.3(GCH1):c.*1010C>TSNV Uncertain significance 313374 rs764569623 14:55309725-55309725 14:54843007-54843007
49 GCH1 NM_000161.3(GCH1):c.-125A>CSNV Uncertain significance 313405 rs886050554 14:55369506-55369506 14:54902788-54902788
50 GCH1 NM_000161.3(GCH1):c.509+3A>GSNV Uncertain significance 459900 rs369661042 14:55326396-55326396 14:54859678-54859678

UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, B:

73
# Symbol AA change Variation ID SNP ID
1 GCH1 p.Arg184His VAR_002643 rs104894445
2 GCH1 p.Met211Ile VAR_002647 rs104894443
3 GCH1 p.Lys224Arg VAR_002648 rs41298442
4 GCH1 p.Gly108Asp VAR_016894 rs104894435
5 GCH1 p.Met221Thr VAR_016905 rs104894434

Expression for Hyperphenylalaninemia, Bh4-Deficient, B

Search GEO for disease gene expression data for Hyperphenylalaninemia, Bh4-Deficient, B.

Pathways for Hyperphenylalaninemia, Bh4-Deficient, B

Pathways related to Hyperphenylalaninemia, Bh4-Deficient, B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.85 PTS GCH1
2
Show member pathways
10.39 TH QDPR PTS GCH1

GO Terms for Hyperphenylalaninemia, Bh4-Deficient, B

Biological processes related to Hyperphenylalaninemia, Bh4-Deficient, B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.4 TH GCH1
2 cellular response to drug GO:0035690 9.37 TH QDPR
3 cellular amino acid metabolic process GO:0006520 9.32 QDPR PTS
4 cofactor metabolic process GO:0051186 9.26 PTS GCH1
5 dopamine biosynthetic process GO:0042416 9.16 TH GCH1
6 dihydrobiopterin metabolic process GO:0051066 8.96 QDPR GCH1
7 tetrahydrobiopterin biosynthetic process GO:0006729 8.8 QDPR PTS GCH1

Molecular functions related to Hyperphenylalaninemia, Bh4-Deficient, B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.8 QDPR PTS GCH1

Sources for Hyperphenylalaninemia, Bh4-Deficient, B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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