MCID: TTR020
MIFTS: 7

Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Tetrahydrobiopterin-Responsive...

MalaCards integrated aliases for Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria:

Name: Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/phenylketonuria 59
Bh4-Responsive Hyperphenylalaninemia/phenylketonuria 59
Tetrahydrobiopterin-Responsive Hpa/pku 59
Bh4-Responsive Hpa/pku 59

Characteristics:

Orphanet epidemiological data:

59
tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA293284
ICD10 via Orphanet 34 E70.1

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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