HPABH4A
MCID: HYP331
MIFTS: 51

Hyperphenylalaninemia, Bh4-Deficient, a (HPABH4A)

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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

Name: Hyperphenylalaninemia, Bh4-Deficient, a 57 75 13
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 57 12 76 53 59 75 29 6 44 73
Pts Deficiency 57 12 53 75
Hpabh4a 57 12 75
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 12 59
Bh4-Deficient Hyperphenylalaninemia a 12 15
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 53
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Pts Deficiency 57
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 75
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due to Pts Deficiency 12
6-Pyruvoyltetrahydropterin Synthase Deficiency 76
Hyperphenylalaninemia, Bh4-Deficient, Type a 40
Hyperphenylalanemia, Bh4-Deficient, a 53
6-Pyruvoyltetrahydropterin Synthase 13

Characteristics:

Orphanet epidemiological data:

59
6-pyruvoyl-tetrahydropterin synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
defect in tetrahydrobiopterin (bh4) synthesis
progressive neurologic deterioration if untreated
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
onset in infancy (average 4 months, but may be earlier)
variable severity, ranging from central severe to peripheral to transient
prevalence in caucasians is 1 in 1,000,000
prevalence in taiwan is 1 in 132,000


HPO:

32
hyperphenylalaninemia, bh4-deficient, a:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 13Disease definition6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency 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 descriptionWhen 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, tonus disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation and difficulty swallowing.Diagnostic methodsPTPS 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 (5-HIAA) and homovanillic acid (HVA) in cerebrospinal fluid and with an oral tetrahydrobiopterin-loading test (20 mg/kg).Genetic counselingPTPS deficiency is an autosomal recessive genetic disorder.Management and treatmentTreatment 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-hydroxytryptophan).Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to dystonia, dopa-responsive, due to sepiapterin reductase deficiency and mild hyperphenylalaninemia, and has symptoms including seizures, ataxia and tremor. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase), and among its related pathways/superpathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include testes and brain, and related phenotypes are ptosis and depressivity

Disease Ontology : 12 An amino acid metabolic disorder characterized by autosomal recessive inheritance of hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has material basis in mutation in the PTS gene on chromosome 11q23.1.

OMIM : 57 Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH; 612349), tyrosine hydroxylase (TH; 191290) and tryptophan hydroxylase (TPH1; 191060), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001). HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (233910), caused by mutation in the GCH1 gene (600225), HPABH4C (261630), caused by mutation in the QDPR gene (612676), and HPABH4D (264070), caused by mutation in the PCBD1 gene (126090). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU; 261600), caused by mutation in the PAH gene. Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (612716), caused by mutation in the SPR gene (182125), and autosomal dominant dopa-responsive dystonia (DYT5; 128230), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed. (261640)

UniProtKB/Swiss-Prot : 75 Hyperphenylalaninemia, BH4-deficient, A: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet.

Wikipedia : 76 6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant... more...

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, a

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



Diseases related to Hyperphenylalaninemia, Bh4-Deficient, a

Symptoms & Phenotypes for Hyperphenylalaninemia, Bh4-Deficient, a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
tremor
hyperreflexia
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Laboratory Abnormalities:
hyperphenylalaninemia
decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf
increased neopterin in urine and csf
decreased or absent pts activity

Abdomen Gastrointestinal:
swallowing difficulties
poor sucking

Head And Neck Eyes:
oculogyric crises

Head And Neck Head:
microcephaly

Growth Other:
small for gestational age
poor feeding in infancy

Metabolic Features:
hyperthermia, episodic

Head And Neck Mouth:
hypersalivation


Clinical features from OMIM:

261640

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

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 hyperreflexia 59 32 Occasional (29-5%) HP:0001347
8 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
9 clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002169
10 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
11 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
12 hypertonia 59 32 Occasional (29-5%) HP:0001276
13 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
14 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
15 falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002527
16 dystonia 59 32 Occasional (29-5%) HP:0001332
17 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
18 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
19 agitation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000713
20 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
21 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
22 excessive salivation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003781
23 hyperkinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002487
24 poor head control 59 32 occasional (7.5%) Occasional (29-5%) HP:0002421
25 opisthotonus 59 32 frequent (33%) Frequent (79-30%) HP:0002179
26 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
27 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
28 oculogyric crisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010553
29 tremor 32 HP:0001337
30 chorea 59 Occasional (29-5%)
31 microcephaly 32 HP:0000252
32 irritability 32 HP:0000737
33 intellectual disability, progressive 32 HP:0006887
34 abnormality of extrapyramidal motor function 59 Occasional (29-5%)
35 restlessness 59 Occasional (29-5%)
36 poor suck 32 HP:0002033
37 parkinsonism 32 HP:0001300
38 excessive daytime somnolence 32 HP:0001262
39 episodic fever 32 HP:0001954
40 small for gestational age 32 HP:0001518
41 progressive neurologic deterioration 32 HP:0002344
42 muscular hypotonia of the trunk 32 HP:0008936
43 hyperphenylalaninemia 32 HP:0004923

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


seizures, ataxia, tremor, abnormality of extrapyramidal motor function, bradykinesia, muscle rigidity, stiffness

MGI Mouse Phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.14 DECR1 GCH1 HEXA PAH PCBD1 POLB
2 behavior/neurological MP:0005386 10.06 DECR1 HEXA NAGLU PAH POLB PRL
3 liver/biliary system MP:0005370 9.87 DECR1 HEXA NAGLU POLB PRL SLC25A13
4 mortality/aging MP:0010768 9.86 GCH1 HEXA NAGLU POLB PTS QDPR
5 integument MP:0010771 9.85 NAGLU PAH PCBD1 POLB PRL PTS
6 nervous system MP:0003631 9.81 GCH1 HEXA NAGLU PAH POLB PRL
7 hearing/vestibular/ear MP:0005377 9.73 HEXA NAGLU POLB SLC25A13
8 pigmentation MP:0001186 9.26 NAGLU PAH PCBD1 PTS
9 renal/urinary system MP:0005367 9.17 HEXA NAGLU PAH PCBD1 POLB SLC25A13

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

Search Clinical Trials , NIH Clinical Center for Hyperphenylalaninemia, Bh4-Deficient, a

Cochrane evidence based reviews: 6-pyruvoyl-tetrahydropterin synthase deficiency

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, a

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

# Genetic test Affiliating Genes
1 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 29 PTS

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

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

41
Testes, Brain

Publications for Hyperphenylalaninemia, Bh4-Deficient, a

Articles related to Hyperphenylalaninemia, Bh4-Deficient, a:

(show all 24)
# Title Authors Year
1
WITHDRAWN: Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. ( 21696901 )
2011
2
Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 21542064 )
2011
3
Disorders of BH4 metabolism and the treatment of patients with 6-pyruvoyl-tetrahydropterin synthase deficiency in Taiwan. ( 21880449 )
2011
4
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 20059486 )
2010
5
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. ( 19704083 )
2009
6
Maternal tetrahydrobiopterin deficiency: the course of two pregnancies and follow-up of two children in a mother with 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 19322676 )
2009
7
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 18332253 )
2008
8
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid levels. ( 17590551 )
2008
9
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 16364672 )
2006
10
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 16161143 )
2006
11
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. ( 15984017 )
2005
12
Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests. ( 15036427 )
2004
13
6-pyruvoyl tetrahydropterin synthase deficiency: a case report. ( 15906733 )
2003
14
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 11388593 )
2001
15
Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. ( 10984672 )
2000
16
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. ( 10319579 )
1999
17
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. ( 9222757 )
1997
18
6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. ( 9159737 )
1997
19
Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects. ( 8051934 )
1994
20
Response of 6-pyruvoyl-tetrahydropterin synthase deficiency to tetrahydrobiopterin. ( 1588012 )
1992
21
A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece. ( 1779640 )
1991
22
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype. ( 1700190 )
1990
23
On-off phenomenon in a child with tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency (BH4 deficiency). ( 2646129 )
1989
24
"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity. ( 3297709 )
1987

Variations for Hyperphenylalaninemia, Bh4-Deficient, a

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

75 (show all 24)
# Symbol AA change Variation ID SNP ID
1 PTS p.Arg16Cys VAR_006816 rs104894274
2 PTS p.Arg25Gly VAR_006817
3 PTS p.Arg25Gln VAR_006818 rs104894273
4 PTS p.Glu35Gly VAR_006819 rs132832099
5 PTS p.Asn36Lys VAR_006820 rs144921637
6 PTS p.Asn52Ser VAR_006821 rs104894275
7 PTS p.Val56Met VAR_006822 rs104894277
8 PTS p.Thr67Met VAR_006824 rs370340361
9 PTS p.Val70Asp VAR_006825
10 PTS p.Pro87Leu VAR_006826 rs765406631
11 PTS p.Pro87Ser VAR_006827 rs104894276
12 PTS p.Asp96Asn VAR_006828 rs104894280
13 PTS p.Phe100Val VAR_006829
14 PTS p.Thr106Met VAR_006830 rs200712908
15 PTS p.Ile114Val VAR_006831
16 PTS p.Lys129Glu VAR_006832 rs104044182
17 PTS p.Asp136Val VAR_006833
18 PTS p.Asn47Asp VAR_008040 rs104894278
19 PTS p.Asp116Gly VAR_008041 rs104894279
20 PTS p.Leu26Phe VAR_058265
21 PTS p.Val97Met VAR_058266 rs750455879
22 PTS p.Tyr99Cys VAR_058267
23 PTS p.Val124Leu VAR_058268 rs150726932
24 PTS p.Asp136Gly VAR_058269

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

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTS NM_000317.2(PTS): c.74G> A (p.Arg25Gln) single nucleotide variant Pathogenic rs104894273 GRCh37 Chromosome 11, 112097240: 112097240
2 PTS NM_000317.2(PTS): c.74G> A (p.Arg25Gln) single nucleotide variant Pathogenic rs104894273 GRCh38 Chromosome 11, 112226517: 112226517
3 PTS NM_000317.2(PTS): c.155A> G (p.Asn52Ser) single nucleotide variant Pathogenic rs104894275 GRCh37 Chromosome 11, 112099388: 112099388
4 PTS NM_000317.2(PTS): c.155A> G (p.Asn52Ser) single nucleotide variant Pathogenic rs104894275 GRCh38 Chromosome 11, 112228665: 112228665
5 PTS NM_000317.2(PTS): c.259C> T (p.Pro87Ser) single nucleotide variant Pathogenic rs104894276 GRCh37 Chromosome 11, 112103901: 112103901
6 PTS NM_000317.2(PTS): c.259C> T (p.Pro87Ser) single nucleotide variant Pathogenic rs104894276 GRCh38 Chromosome 11, 112233178: 112233178
7 PTS NM_000317.2(PTS): c.166G> A (p.Val56Met) single nucleotide variant Likely pathogenic rs104894277 GRCh37 Chromosome 11, 112100933: 112100933
8 PTS NM_000317.2(PTS): c.166G> A (p.Val56Met) single nucleotide variant Likely pathogenic rs104894277 GRCh38 Chromosome 11, 112230210: 112230210
9 PTS NM_000317.2(PTS): c.347A> G (p.Asp116Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894279 GRCh37 Chromosome 11, 112104187: 112104187
10 PTS NM_000317.2(PTS): c.347A> G (p.Asp116Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs104894279 GRCh38 Chromosome 11, 112233464: 112233464
11 PTS NM_000317.2(PTS): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs104894280 GRCh37 Chromosome 11, 112103928: 112103928
12 PTS NM_000317.2(PTS): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs104894280 GRCh38 Chromosome 11, 112233205: 112233205
13 PTS NM_000317.2(PTS): c.163+694_163+748del55 deletion Pathogenic GRCh38 Chromosome 11, 112229367: 112229421
14 PTS NM_000317.2(PTS): c.163+694_163+748del55 deletion Pathogenic GRCh37 Chromosome 11, 112100090: 112100144
15 PTS NM_000317.2(PTS): c.84-323A> T single nucleotide variant Pathogenic rs794726657 GRCh38 Chromosome 11, 112228271: 112228271
16 PTS NM_000317.2(PTS): c.84-323A> T single nucleotide variant Pathogenic rs794726657 GRCh37 Chromosome 11, 112098994: 112098994
17 PTS NM_000317.2(PTS): c.132C> T (p.Asn44=) single nucleotide variant Uncertain significance rs763556416 GRCh37 Chromosome 11, 112099365: 112099365
18 PTS NM_000317.2(PTS): c.132C> T (p.Asn44=) single nucleotide variant Uncertain significance rs763556416 GRCh38 Chromosome 11, 112228642: 112228642
19 PTS NM_000317.2(PTS): c.405T> C (p.Thr135=) single nucleotide variant Benign/Likely benign rs59731976 GRCh37 Chromosome 11, 112104245: 112104245
20 PTS NM_000317.2(PTS): c.405T> C (p.Thr135=) single nucleotide variant Benign/Likely benign rs59731976 GRCh38 Chromosome 11, 112233522: 112233522
21 PTS NM_000317.2(PTS): c.163+14T> C single nucleotide variant Benign rs3819331 GRCh37 Chromosome 11, 112099410: 112099410
22 PTS NM_000317.2(PTS): c.163+14T> C single nucleotide variant Benign rs3819331 GRCh38 Chromosome 11, 112228687: 112228687
23 PTS NM_000317.2(PTS): c.297C> A (p.Tyr99Ter) single nucleotide variant Likely pathogenic rs145882709 GRCh37 Chromosome 11, 112103939: 112103939
24 PTS NM_000317.2(PTS): c.297C> A (p.Tyr99Ter) single nucleotide variant Likely pathogenic rs145882709 GRCh38 Chromosome 11, 112233216: 112233216
25 PTS NM_000317.2(PTS): c.73C> G (p.Arg25Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 112226516: 112226516
26 PTS NM_000317.2(PTS): c.73C> G (p.Arg25Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 112097239: 112097239
27 PTS NM_000317.2(PTS): c.95G> A (p.Ser32Asn) single nucleotide variant Uncertain significance rs374871539 GRCh38 Chromosome 11, 112228605: 112228605
28 PTS NM_000317.2(PTS): c.95G> A (p.Ser32Asn) single nucleotide variant Uncertain significance rs374871539 GRCh37 Chromosome 11, 112099328: 112099328
29 PTS NM_000317.2(PTS): c.84-6G> T single nucleotide variant Likely benign rs778736284 GRCh38 Chromosome 11, 112228588: 112228588
30 PTS NM_000317.2(PTS): c.84-6G> T single nucleotide variant Likely benign rs778736284 GRCh37 Chromosome 11, 112099311: 112099311
31 PTS NM_000317.2(PTS): c.148G> A (p.Gly50Arg) single nucleotide variant Uncertain significance rs922940879 GRCh38 Chromosome 11, 112228658: 112228658
32 PTS NM_000317.2(PTS): c.148G> A (p.Gly50Arg) single nucleotide variant Uncertain significance rs922940879 GRCh37 Chromosome 11, 112099381: 112099381
33 PTS NM_000317.2(PTS): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs370340361 GRCh38 Chromosome 11, 112230639: 112230639
34 PTS NM_000317.2(PTS): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs370340361 GRCh37 Chromosome 11, 112101362: 112101362
35 PTS NM_000317.2(PTS): c.429A> C (p.Lys143Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 112233546: 112233546
36 PTS NM_000317.2(PTS): c.429A> C (p.Lys143Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 112104269: 112104269
37 GCH1 NM_001024071.1(GCH1): c.274C> A (p.Leu92Ile) single nucleotide variant Likely pathogenic rs763294577 GRCh37 Chromosome 14, 55369108: 55369108
38 GCH1 NM_001024071.1(GCH1): c.274C> A (p.Leu92Ile) single nucleotide variant Likely pathogenic rs763294577 GRCh38 Chromosome 14, 54902390: 54902390
39 PTS NM_000317.2(PTS): c.315-3T> C single nucleotide variant Benign rs189365250 GRCh37 Chromosome 11, 112104152: 112104152
40 PTS NM_000317.2(PTS): c.315-3T> C single nucleotide variant Benign rs189365250 GRCh38 Chromosome 11, 112233429: 112233429
41 PTS NM_000317.2(PTS): c.164-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 112100929: 112100929
42 PTS NM_000317.2(PTS): c.164-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 112230206: 112230206
43 PTS NM_000317.2(PTS): c.169_171delGTG (p.Val57del) deletion Likely pathogenic GRCh37 Chromosome 11, 112100932: 112100935
44 PTS NM_000317.2(PTS): c.169_171delGTG (p.Val57del) deletion Likely pathogenic GRCh38 Chromosome 11, 112230213: 112230215
45 PTS NM_000317.2(PTS): c.186+1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 112100954: 112100954
46 PTS NM_000317.2(PTS): c.186+1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 112230231: 112230231
47 PTS NM_000317.2(PTS): c.243_243+1dup duplication Likely pathogenic GRCh37 Chromosome 11, 112101404: 112101404
48 PTS NM_000317.2(PTS): c.243_243+1dup duplication Likely pathogenic GRCh38 Chromosome 11, 112230682: 112230683
49 PTS NM_000317.2(PTS): c.260C> T (p.Pro87Leu) single nucleotide variant Likely pathogenic rs765406631 GRCh37 Chromosome 11, 112103902: 112103902
50 PTS NM_000317.2(PTS): c.260C> T (p.Pro87Leu) single nucleotide variant Likely pathogenic rs765406631 GRCh38 Chromosome 11, 112233179: 112233179

Expression for Hyperphenylalaninemia, Bh4-Deficient, a

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

Pathways for Hyperphenylalaninemia, Bh4-Deficient, a

GO Terms for Hyperphenylalaninemia, Bh4-Deficient, a

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.71 DECR1 PAH PCBD1 QDPR
2 metabolic process GO:0008152 9.56 GCH1 HEXA NAGLU PAH
3 cellular amino acid metabolic process GO:0006520 9.37 PTS QDPR
4 cofactor metabolic process GO:0051186 9.32 GCH1 PTS
5 dihydrobiopterin metabolic process GO:0051066 9.16 GCH1 QDPR
6 L-phenylalanine catabolic process GO:0006559 9.13 PAH PCBD1 QDPR
7 tetrahydrobiopterin biosynthetic process GO:0006729 8.92 GCH1 PCBD1 PTS QDPR

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.33 PCBD1 POLB PTS
2 NADPH binding GO:0070402 8.96 DECR1 QDPR
3 phenylalanine 4-monooxygenase activity GO:0004505 8.62 PAH PCBD1

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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