MCID: HYP331
MIFTS: 29

Hyperphenylalaninemia, Bh4-Deficient, a malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, a:

Name: Hyperphenylalaninemia, Bh4-Deficient, a 51 24 69 12
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 47 24 53 69 26 67
Pts Deficiency 47 69
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 47
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 53
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 69
6-Alpha Pyruvoyltetrahydropterin Synthase Deficiency 24
 
6-Pyruvoyltetrahydropterin Synthase Deficiency 24
Dihydrobiopterin Synthetase Deficiency 24
Hyperphenylalanemia, Bh4-Deficient, a 47
6-Pyruvoyltetrahydropterin Synthase 12
Ptps Deficiency 24
Hpabh4a 69

Characteristics:

Orphanet epidemiological data:

53
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
hyperphenylalaninemia, bh4-deficient, a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 261640
Orphanet53 ORPHA13
UMLS via Orphanet68 C0878676
ICD10 via Orphanet30 E70.1
MESH via Orphanet39 C535325
MeSH38 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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OMIM:51 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 microcephaly, irritability and seizures. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase).

UniProtKB/Swiss-Prot:69 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
1dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.8
2hyperphenylalaninemia, bh4-deficient, d10.8
3tetrahydrobiopterin deficiency10.4
4dystonia10.2
5hyperphenylalaninemia10.2
6mild hyperphenylalaninemia10.2

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

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

 63 (show all 22)
id Description HPO Frequency HPO Source Accession
1 microcephaly63 HP:0000252
2 irritability63 HP:0000737
3 seizures63 HP:0001250
4 ataxia63 HP:0001251
5 somnolence63 HP:0001262
6 global developmental delay63 HP:0001263
7 choreoathetosis63 HP:0001266
8 parkinsonism63 HP:0001300
9 dystonia63 HP:0001332
10 tremor63 HP:0001337
11 hyperreflexia63 HP:0001347
12 small for gestational age63 HP:0001518
13 episodic fever63 HP:0001954
14 dysphagia63 HP:0002015
15 poor suck63 HP:0002033
16 rigidity63 HP:0002063
17 bradykinesia63 HP:0002067
18 progressive neurologic deterioration63 HP:0002344
19 excessive salivation63 HP:0003781
20 hyperphenylalaninemia63 HP:0004923
21 intellectual disability, progressive63 HP:0006887
22 muscular hypotonia of the trunk63 HP:0008936

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


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

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-Pyruvoyl-Tetrahydropterin Synthase Deficiency26
2 6-Pyruvoyltetrahydropterin Synthase Deficiency24 PTS

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:

69 (show all 24)
id Symbol AA change Variation ID SNP ID
1PTSp.Arg16CysVAR_006816rs104894274
2PTSp.Arg25GlyVAR_006817
3PTSp.Arg25GlnVAR_006818rs104894273
4PTSp.Glu35GlyVAR_006819
5PTSp.Asn36LysVAR_006820
6PTSp.Asn52SerVAR_006821rs104894275
7PTSp.Val56MetVAR_006822rs104894277
8PTSp.Thr67MetVAR_006824rs370340361
9PTSp.Val70AspVAR_006825
10PTSp.Pro87LeuVAR_006826rs765406631
11PTSp.Pro87SerVAR_006827rs104894276
12PTSp.Asp96AsnVAR_006828rs104894280
13PTSp.Phe100ValVAR_006829
14PTSp.Thr106MetVAR_006830rs200712908
15PTSp.Ile114ValVAR_006831
16PTSp.Lys129GluVAR_006832
17PTSp.Asp136ValVAR_006833
18PTSp.Asn47AspVAR_008040rs104894278
19PTSp.Asp116GlyVAR_008041rs104894279
20PTSp.Leu26PheVAR_058265
21PTSp.Val97MetVAR_058266rs750455879
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: c.297C> ASNVLikely pathogenicChr na, -1: -1
2PTSNM_000317.2(PTS): c.74G> A (p.Arg25Gln)SNVPathogenicrs104894273GRCh37Chr 11, 112097240: 112097240
3PTSNM_000317.2(PTS): c.155A> G (p.Asn52Ser)SNVPathogenicrs104894275GRCh37Chr 11, 112099388: 112099388
4PTSNM_000317.2(PTS): c.259C> T (p.Pro87Ser)SNVPathogenicrs104894276GRCh37Chr 11, 112103901: 112103901
5PTSNM_000317.2(PTS): c.166G> A (p.Val56Met)SNVPathogenicrs104894277GRCh37Chr 11, 112100933: 112100933
6PTSNM_000317.2(PTS): c.286G> A (p.Asp96Asn)SNVPathogenicrs104894280GRCh37Chr 11, 112103928: 112103928
7PTSNM_000317.2(PTS): c.163+694_163+748deldeletionPathogenicGRCh38Chr 11, 112229367: 112229421
8PTSNM_000317.2(PTS): c.84-323A> TSNVPathogenicrs794726657GRCh37Chr 11, 112098994: 112098994

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet