MCID: HYP331
MIFTS: 27

Hyperphenylalaninemia, Bh4-Deficient, a malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, a 45 10
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 41 47 22 60
Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency 41 47
Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 41
 
6-Pyruvoyltetrahydropterin Synthase Deficiency 20
Hyperphenylalanemia, Bh4-Deficient, a 41
Pts Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 261640
Orphanet47 13
MESH via Orphanet34 C535325
ICD10 via Orphanet26 E70.1
UMLS via Orphanet61 C0878676

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

About this section


OMIM:45 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).

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 deficiency10.7
2generalized dystonia10.5
3dystonia10.5
4hyperphenylalaninemia10.5
5mild hyperphenylalaninemia10.5

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 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 hyperphenylalaninemia HP:0004923
21 intellectual disability, progressive HP:0006887
22 muscular hypotonia of the trunk HP:0008936

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

About this section

Drug clinical trials:

Search ClinicalTrials for Hyperphenylalaninemia, Bh4-Deficient, a

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-Pyruvoyltetrahydropterin Synthase Deficiency20 PTS
2 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency22

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:

62 (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:

6
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
6PTSPTS, 55-BP DEL, NT694deletionPathogenic
7PTSPTS, IVS1, -322A-Tsingle nucleotide variantPathogenic

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

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet