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 58
Bh4-Responsive Hyperphenylalaninemia/phenylketonuria 58
Tetrahydrobiopterin-Responsive Hpa/pku 58
Bh4-Responsive Hpa/pku 58

Characteristics:

Orphanet epidemiological data:

58
tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E70.1
Orphanet 58 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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