MCID: HYP331
MIFTS: 22

Hyperphenylalaninemia, Bh4-Deficient, a malady

Neuronal diseases, Metabolic diseases categories

Summaries for Hyperphenylalaninemia, Bh4-Deficient, a

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46OMIM, 32MalaCards
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MalaCards: Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to tetrahydrobiopterin deficiency and 6-pyruvoyl-tetrahydropterin synthase deficiency. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS (6-pyruvoyltetrahydropterin synthase).

Description from OMIM:46 261640

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
48Orphanet, 60UMLS, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
6-pyruvoyl-tetrahydropterin synthase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hyperphenylalaninemia, bh4-deficient, a 46
6-pyruvoyl-tetrahydropterin synthase deficiency 48 60
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency 48


External Ids:

OMIM46 261640
MESH via Orphanet35 C535325
ICD10 via Orphanet26 E70.1
UMLS via Orphanet61 C0878676

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, a

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17GeneCards, 18GeneDecks
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Diseases in the Bh4-Deficient Hyperphenylalaninemia C family:

hyperphenylalaninemia, bh4-deficient, a

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1tetrahydrobiopterin deficiency10.7
26-pyruvoyl-tetrahydropterin synthase deficiency10.7
3hyperphenylalaninemia10.4

Clinical Features for Hyperphenylalaninemia, Bh4-Deficient, a

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46OMIM
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Clinical features from OMIM:

261640

Clinical synopsis from OMIM:

261640

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, a

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, a

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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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Genetic Variations for Hyperphenylalaninemia, Bh4-Deficient, a

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62UniProtKB/Swiss-Prot
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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

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, a

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperphenylalaninemia, Bh4-Deficient, a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet