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

About this section
Sources:
50OMIM, 23GeneTests, 68UniProtKB/Swiss-Prot, 12diseasecard, 46NIH Rare Diseases, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, a 50 23 68 12
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 46 23 52 68 25 66
Pts Deficiency 46 68
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 46
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 52
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 68
6-Alpha Pyruvoyltetrahydropterin Synthase Deficiency 23
 
6-Pyruvoyltetrahydropterin Synthase Deficiency 23
Dihydrobiopterin Synthetase Deficiency 23
Hyperphenylalanemia, Bh4-Deficient, a 46
6-Pyruvoyltetrahydropterin Synthase 12
Ptps Deficiency 23
Hpabh4a 68

Characteristics:

Orphanet epidemiological data:

52
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
hyperphenylalaninemia, bh4-deficient, a:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 261640
Orphanet52 ORPHA13
ICD10 via Orphanet29 E70.1
MESH via Orphanet38 C535325
UMLS via Orphanet67 C0878676
MeSH37 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

About this section
OMIM:50 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 ataxia, ataxia and muscle rigidity. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-Pyruvoyltetrahydropterin Synthase).

UniProtKB/Swiss-Prot:68 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

About this section

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

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency25
2 6-Pyruvoyltetrahydropterin Synthase Deficiency23 PTS

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

About this section

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

About this section

Publications for Hyperphenylalaninemia, Bh4-Deficient, a

About this section

Variations for Hyperphenylalaninemia, Bh4-Deficient, a

About this section

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

68 (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(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

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

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

About this section

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

About this section

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet