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, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, a:

Name: Hyperphenylalaninemia, Bh4-Deficient, a 52 24 70 12
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 48 24 54 70 27 68
Pts Deficiency 48 70
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 48
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 54
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Pts Deficiency 70
6-Alpha Pyruvoyltetrahydropterin Synthase Deficiency 24
 
6-Pyruvoyltetrahydropterin Synthase Deficiency 24
Dihydrobiopterin Synthetase Deficiency 24
Hyperphenylalanemia, Bh4-Deficient, a 48
6-Pyruvoyltetrahydropterin Synthase 12
Ptps Deficiency 24
Hpabh4a 70

Characteristics:

Orphanet epidemiological data:

54
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
hyperphenylalaninemia, bh4-deficient, a:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261640
Orphanet54 ORPHA13
UMLS via Orphanet69 C0878676
ICD10 via Orphanet31 E70.1
MESH via Orphanet40 C535325
MeSH39 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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OMIM:52 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:70 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 & Phenotypes 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:

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 irritability64 HP:0000737
3 seizures64 HP:0001250
4 ataxia64 HP:0001251
5 somnolence64 HP:0001262
6 global developmental delay64 HP:0001263
7 choreoathetosis64 HP:0001266
8 parkinsonism64 HP:0001300
9 dystonia64 HP:0001332
10 tremor64 HP:0001337
11 hyperreflexia64 HP:0001347
12 small for gestational age64 HP:0001518
13 episodic fever64 HP:0001954
14 dysphagia64 HP:0002015
15 poor suck64 HP:0002033
16 rigidity64 HP:0002063
17 bradykinesia64 HP:0002067
18 progressive neurologic deterioration64 HP:0002344
19 excessive salivation64 HP:0003781
20 hyperphenylalaninemia64 HP:0004923
21 intellectual disability, progressive64 HP:0006887
22 muscular hypotonia of the trunk64 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 Deficiency27
2 6-Pyruvoyltetrahydropterin Synthase Deficiency24 PTS

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, a

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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:

70 (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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet