MCID: HYP331
MIFTS: 31

Hyperphenylalaninemia, Bh4-Deficient, a malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, a:

Name: Hyperphenylalaninemia, Bh4-Deficient, a 49 11 22 67
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 45 22 51 24 65 67
Pts Deficiency 45 67
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 45
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 51
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 67
 
6-Alpha Pyruvoyltetrahydropterin Synthase Deficiency 22
6-Pyruvoyltetrahydropterin Synthase Deficiency 22
Dihydrobiopterin Synthetase Deficiency 22
Hyperphenylalanemia, Bh4-Deficient, a 45
Ptps Deficiency 22
Hpabh4a 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 261640
Orphanet51 13
ICD10 via Orphanet28 E70.1
MESH via Orphanet37 C535325
UMLS via Orphanet66 C0878676
MeSH36 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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OMIM:49 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 tetrahydrobiopterin deficiency and generalized dystonia, and has symptoms including autosomal recessive inheritance, microcephaly and irritability. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase).

UniProtKB/Swiss-Prot:67 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1tetrahydrobiopterin deficiency10.8
2generalized dystonia10.5
3dystonia10.5
4hyperphenylalaninemia10.5
5mild hyperphenylalaninemia10.5
6dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.1
7hyperphenylalaninemia, bh4-deficient, d10.1

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



Diseases related to hyperphenylalaninemia, bh4-deficient, a

Symptoms for Hyperphenylalaninemia, Bh4-Deficient, a

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Symptoms by clinical synopsis from OMIM:

261640

Clinical features from OMIM:

261640

HPO human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, a:

(show all 23)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 irritability HP:0000737
4 seizures HP:0001250
5 ataxia HP:0001251
6 somnolence HP:0001262
7 global developmental delay HP:0001263
8 choreoathetosis HP:0001266
9 parkinsonism HP:0001300
10 dystonia HP:0001332
11 tremor HP:0001337
12 hyperreflexia HP:0001347
13 small for gestational age HP:0001518
14 episodic fever HP:0001954
15 dysphagia HP:0002015
16 poor suck HP:0002033
17 rigidity HP:0002063
18 bradykinesia HP:0002067
19 progressive neurologic deterioration HP:0002344
20 excessive salivation HP:0003781
21 hyperphenylalaninemia HP:0004923
22 intellectual disability, progressive HP:0006887
23 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study on the Long Term Safety of Kuvan® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 DeficiencyRecruitingNCT01016392

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

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, a

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

id Genetic test Affiliating Genes
1 6-Pyruvoyltetrahydropterin Synthase Deficiency22 PTS
2 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency24

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

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Animal Models for Hyperphenylalaninemia, Bh4-Deficient, a or affiliated genes

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Publications for Hyperphenylalaninemia, Bh4-Deficient, a

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Variations for Hyperphenylalaninemia, Bh4-Deficient, a

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

67 (show all 24)
id Symbol AA change Variation ID SNP ID
1PTSp.Arg16CysVAR_006816
2PTSp.Arg25GlyVAR_006817
3PTSp.Arg25GlnVAR_006818
4PTSp.Glu35GlyVAR_006819
5PTSp.Asn36LysVAR_006820
6PTSp.Asn52SerVAR_006821
7PTSp.Val56MetVAR_006822
8PTSp.Thr67MetVAR_006824
9PTSp.Val70AspVAR_006825
10PTSp.Pro87LeuVAR_006826
11PTSp.Pro87SerVAR_006827rs104894276
12PTSp.Asp96AsnVAR_006828rs104894280
13PTSp.Phe100ValVAR_006829
14PTSp.Thr106MetVAR_006830
15PTSp.Ile114ValVAR_006831
16PTSp.Lys129GluVAR_006832
17PTSp.Asp136ValVAR_006833
18PTSp.Asn47AspVAR_008040
19PTSp.Asp116GlyVAR_008041
20PTSp.Leu26PheVAR_058265
21PTSp.Val97MetVAR_058266
22PTSp.Tyr99CysVAR_058267
23PTSp.Val124LeuVAR_058268
24PTSp.Asp136GlyVAR_058269

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)single nucleotide variantPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
2PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)single nucleotide variantPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
3PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)single nucleotide variantPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
4PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)single nucleotide variantPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
5PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
6PTSNM_000317.2(PTS): c.163+694_163+748deldeletionPathogenicGRCh38Chr 11, 112229367: 112229421
7PTSNM_000317.2(PTS): c.84-323A> Tsingle nucleotide variantPathogenicrs794726657GRCh38Chr 11, 112228271: 112228271

Expression for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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

Pathways for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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GO Terms for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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Sources for Hyperphenylalaninemia, Bh4-Deficient, a

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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