HPABH4A
MCID: HYP331
MIFTS: 29

Hyperphenylalaninemia, Bh4-Deficient, a (HPABH4A) malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, a:

Name: Hyperphenylalaninemia, Bh4-Deficient, a 54 24 66 13
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 50 24 56 66 29 69
Pts Deficiency 50 66
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 50
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 56
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 66
6-Alpha Pyruvoyltetrahydropterin Synthase Deficiency 24
6-Pyruvoyltetrahydropterin Synthase Deficiency 24
Dihydrobiopterin Synthetase Deficiency 24
Hyperphenylalanemia, Bh4-Deficient, a 50
6-Pyruvoyltetrahydropterin Synthase 13
Ptps Deficiency 24
Hpabh4a 66

Characteristics:

Orphanet epidemiological data:

56
6-pyruvoyl-tetrahydropterin synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

HPO:

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


Classifications:



External Ids:

OMIM 54 261640
Orphanet 56 ORPHA13
UMLS via Orphanet 70 C0878676
ICD10 via Orphanet 34 E70.1
MESH via Orphanet 43 C535325
MeSH 42 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

OMIM : 54 Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of... (261640) more...

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 hyperphenylalaninemia, bh4-deficient, d, and has symptoms including ataxia, seizures and dystonia. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase).

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, a

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

Hyperphenylalaninemia, Bh4-Deficient, D Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, B

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

id Related Disease Score Top Affiliating Genes
1 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.8
2 hyperphenylalaninemia, bh4-deficient, d 10.8
3 tetrahydrobiopterin deficiency 10.4
4 generalized dystonia 10.2
5 dystonia 10.2
6 hyperphenylalaninemia 10.2
7 mild hyperphenylalaninemia 10.2

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 by clinical synopsis from OMIM:

261640

Clinical features from OMIM:

261640

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

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 dystonia 56 32 Occasional (29-5%) HP:0001332
4 bradykinesia 56 32 Occasional (29-5%) HP:0002067
5 hyperreflexia 56 32 Occasional (29-5%) HP:0001347
6 dysphagia 56 32 Occasional (29-5%) HP:0002015
7 global developmental delay 56 32 Occasional (29-5%) HP:0001263
8 rigidity 56 32 Occasional (29-5%) HP:0002063
9 choreoathetosis 56 32 Occasional (29-5%) HP:0001266
10 excessive salivation 56 32 Occasional (29-5%) HP:0003781
11 myoclonus 56 Occasional (29-5%)
12 tremor 32 HP:0001337
13 agitation 56 Occasional (29-5%)
14 abnormality of extrapyramidal motor function 56 Occasional (29-5%)
15 opisthotonus 56 Frequent (79-30%)
16 excessive daytime somnolence 32 HP:0001262
17 clonus 56 Occasional (29-5%)
18 restlessness 56 Occasional (29-5%)
19 ptosis 56 Occasional (29-5%)
20 depression 56 Occasional (29-5%)
21 intellectual disability 56 Occasional (29-5%)
22 muscular hypotonia 56 Frequent (79-30%)
23 chorea 56 Occasional (29-5%)
24 delayed speech and language development 56 Occasional (29-5%)
25 microcephaly 32 HP:0000252
26 hypertonia 56 Occasional (29-5%)
27 pallor 56 Occasional (29-5%)
28 irritability 32 HP:0000737
29 falls 56 Occasional (29-5%)
30 intellectual disability, progressive 32 HP:0006887
31 motor delay 56 Occasional (29-5%)
32 poor suck 32 HP:0002033
33 parkinsonism 32 HP:0001300
34 hyperkinesis 56 Occasional (29-5%)
35 drowsiness 56 Occasional (29-5%)
36 poor head control 56 Occasional (29-5%)
37 hypsarrhythmia 56 Occasional (29-5%)
38 oculogyric crisis 56 Occasional (29-5%)
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:


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

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

Interventional clinical trials:


id Name Status NCT ID Phase
1 Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency Recruiting NCT01016392

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

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, a

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

id Genetic test Affiliating Genes
1 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 29
2 6-Pyruvoyltetrahydropterin Synthase Deficiency 24 PTS

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

Publications for Hyperphenylalaninemia, Bh4-Deficient, a

Variations for Hyperphenylalaninemia, Bh4-Deficient, a

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

66 (show all 24)
id 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
5 PTS p.Asn36Lys VAR_006820
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
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
id 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.155A> G (p.Asn52Ser) single nucleotide variant Pathogenic rs104894275 GRCh37 Chromosome 11, 112099388: 112099388
3 PTS NM_000317.2(PTS): c.259C> T (p.Pro87Ser) single nucleotide variant Pathogenic rs104894276 GRCh37 Chromosome 11, 112103901: 112103901
4 PTS NM_000317.2(PTS): c.166G> A (p.Val56Met) single nucleotide variant Pathogenic rs104894277 GRCh37 Chromosome 11, 112100933: 112100933
5 PTS NM_000317.2(PTS): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs104894280 GRCh37 Chromosome 11, 112103928: 112103928
6 PTS NM_000317.2(PTS): c.163+694_163+748del55 deletion Pathogenic GRCh38 Chromosome 11, 112229367: 112229421
7 PTS NM_000317.2(PTS): c.84-323A> T single nucleotide variant Pathogenic rs794726657 GRCh37 Chromosome 11, 112098994: 112098994
8 PTS NM_000317.2(PTS): c.297C> A (p.Tyr99Ter) single nucleotide variant Likely pathogenic rs145882709 GRCh37 Chromosome 11, 112103939: 112103939

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

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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