MCID: TTR020
MIFTS: 7

Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Tetrahydrobiopterin-Responsive...

MalaCards integrated aliases for Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria:

Name: Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 60
Bh4-Responsive Hyperphenylalaninemia/phenylketonuria 60
Tetrahydrobiopterin-Responsive Hpa/pku 60
Bh4-Responsive Hpa/pku 60

Characteristics:

Orphanet epidemiological data:

60
tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 E70.1
Orphanet 60 ORPHA293284

Summaries for Tetrahydrobiopterin-Responsive...

MalaCards based summary : Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria, is also known as bh4-responsive hyperphenylalaninemia/phenylketonuria. An important gene associated with Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria is PAH (Phenylalanine Hydroxylase).

Related Diseases for Tetrahydrobiopterin-Responsive...

Symptoms & Phenotypes for Tetrahydrobiopterin-Responsive...

Drugs & Therapeutics for Tetrahydrobiopterin-Responsive...

Search Clinical Trials , NIH Clinical Center for Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria

Genetic Tests for Tetrahydrobiopterin-Responsive...

Anatomical Context for Tetrahydrobiopterin-Responsive...

Publications for Tetrahydrobiopterin-Responsive...

Variations for Tetrahydrobiopterin-Responsive...

Expression for Tetrahydrobiopterin-Responsive...

Search GEO for disease gene expression data for Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria.

Pathways for Tetrahydrobiopterin-Responsive...

GO Terms for Tetrahydrobiopterin-Responsive...

Sources for Tetrahydrobiopterin-Responsive...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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