MCID: HYP331
MIFTS: 30

Hyperphenylalaninemia, Bh4-Deficient, a malady

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

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, 61The Human Phenotype Ontology
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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 67 24 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
hyperphenylalaninemia, bh4-deficient, a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 261640
Orphanet51 13
ICD10 via Orphanet28 E70.1
MESH via Orphanet37 C535325
UMLS via Orphanet66 C0878676
MeSH36 D010661
UMLS65 C0878676

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 muscular hypotonia of the trunk, intellectual disability, progressive and hyperphenylalaninemia. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase). Affiliated tissues include prostate, bone and breast.

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 deficiency10.5
2generalized dystonia10.3
3dystonia10.3
4hyperphenylalaninemia10.3
5mild hyperphenylalaninemia10.3
6dystonia, dopa-responsive, due to sepiapterin reductase deficiency9.9
7hyperphenylalaninemia, bh4-deficient, d9.9

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

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


stiffness, extrapyramidal sign, bradykinesia, tremor, seizures, muscle rigidity, ataxia

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

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

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

33
Prostate, Bone, Breast, Brain

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_058268rs150726932
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