MCID: HYP822
MIFTS: 13

Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Categories: Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

MalaCards integrated aliases for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency:

Name: Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 59 29 6
Hyperphenylalaninemia Due to Bh4 Deficiency 59
Hyperphenylalaninemia, Non-Phenylketonuric 73
Non-Phenylketonuric Hyperphenylalaninemia 59

Characteristics:

Orphanet epidemiological data:

59
hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA238583
UMLS via Orphanet 74 C0751436 C0751435
ICD10 via Orphanet 34 E70.1
UMLS 73 C0751436

Summaries for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

MalaCards based summary : Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency, also known as hyperphenylalaninemia due to bh4 deficiency, is related to hyperphenylalaninemia, bh4-deficient, b and hyperphenylalaninemia, bh4-deficient, a. An important gene associated with Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency is GCH1 (GTP Cyclohydrolase 1).

Related Diseases for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Diseases related to Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, b 11.4
2 hyperphenylalaninemia, bh4-deficient, a 11.4
3 hyperphenylalaninemia due to dehydratase deficiency 11.2
4 hyperphenylalaninemia 10.1
5 tetrahydrobiopterin deficiency 10.1

Graphical network of the top 20 diseases related to Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency:



Diseases related to Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Symptoms & Phenotypes for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Drugs & Therapeutics for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Search Clinical Trials , NIH Clinical Center for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Genetic Tests for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Genetic tests related to Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency:

# Genetic test Affiliating Genes
1 Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency 29

Anatomical Context for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Publications for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Articles related to Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency:

# Title Authors Year
1
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia). ( 7365585 )
1980

Variations for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

ClinVar genetic disease variations for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Likely benign rs56127440 GRCh37 Chromosome 14, 55369176: 55369176
2 GCH1 NM_000161.2(GCH1): c.206C> T (p.Pro69Leu) single nucleotide variant Likely benign rs56127440 GRCh38 Chromosome 14, 54902458: 54902458

Expression for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Search GEO for disease gene expression data for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency.

Pathways for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

GO Terms for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

Sources for Hyperphenylalaninemia Due to Tetrahydrobiopterin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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