MCID: HYP368
MIFTS: 37

Hyperphenylalaninemia, Bh4-Deficient, C malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hyperphenylalaninemia, Bh4-Deficient, C, Aliases & Descriptions:

Name: Hyperphenylalaninemia, Bh4-Deficient, C 45 10 20
Dihydropteridine Reductase Deficiency 41 47 22 60
Variant Pku 41 20 47
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 41 47
Variant Phenylketonuria 41 47
Phenylketonuria Type 2 41 47
Mild Phenylketonuria 41 47
Pku Type 2 41 47
 
Mild Pku 41 47
Mpku 41 47
Quinoid Dihydropteridine Reductase Deficiency 41
Hyperphenylalaninemia, Bh-4-Deficient, C 41
Phenylketonuria Ii 60
Qdpr Deficiency 41
Dhpr Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
dihydropteridine reductase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age
variant pku:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 261630
Orphanet47 226, 79253
MESH via Orphanet34 C537896
ICD10 via Orphanet26 E70.1
UMLS via Orphanet61 C0268465, C2936906

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

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MalaCards based summary: Hyperphenylalaninemia, Bh4-Deficient, C, also known as dihydropteridine reductase deficiency, is related to hyperphenylalaninemia and phenylketonuria, and has symptoms including microcephaly, cognitive impairment and autosomal recessive inheritance. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (quinoid dihydropteridine reductase), and among its related pathways are Metabolism of amino acids and derivatives and phenylalanine degradation I. The compounds 7-biopterin and 6-biopterin have been mentioned in the context of this disorder.

Description from OMIM:45 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

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Graphical network of diseases related to Hyperphenylalaninemia, Bh4-Deficient, C:



Diseases related to hyperphenylalaninemia, bh4-deficient, c

Symptoms for Hyperphenylalaninemia, Bh4-Deficient, C

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Symptoms by clinical synopsis from OMIM:

261630

Clinical features from OMIM:

261630

Symptoms:

 47
  • microcephaly
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, C:

(show all 21)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 cognitive impairment hallmark (90%) HP:0100543
3 autosomal recessive inheritance HP:0000007
4 microcephaly HP:0000252
5 irritability HP:0000737
6 intellectual disability HP:0001249
7 seizures HP:0001250
8 muscular hypotonia HP:0001252
9 global developmental delay HP:0001263
10 choreoathetosis HP:0001266
11 hypertonia HP:0001276
12 dystonia HP:0001332
13 myoclonus HP:0001336
14 tremor HP:0001337
15 episodic fever HP:0001954
16 dysphagia HP:0002015
17 progressive neurologic deterioration HP:0002344
18 cerebral calcification HP:0002514
19 infantile onset HP:0003593
20 variable expressivity HP:0003828
21 hyperphenylalaninemia HP:0004923

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, C

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Drug clinical trials:

Search ClinicalTrials for Hyperphenylalaninemia, Bh4-Deficient, C

Search NIH Clinical Center for Hyperphenylalaninemia, Bh4-Deficient, C

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, C

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Genetic tests related to Hyperphenylalaninemia, Bh4-Deficient, C:

id Genetic test Affiliating Genes
1 Bh4-Deficient Hyperphenylalaninemia C20 QDPR
2 Variant Pku20
3 Dihydropteridine Reductase Deficiency22

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

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Animal Models for Hyperphenylalaninemia, Bh4-Deficient, C or affiliated genes

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Publications for Hyperphenylalaninemia, Bh4-Deficient, C

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Variations for Hyperphenylalaninemia, Bh4-Deficient, C

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UniProtKB/Swiss-Prot genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, C:

62 (show all 16)
id Symbol AA change Variation ID SNP ID
1QDPRp.Gly23AspVAR_006960
2QDPRp.Trp36ArgVAR_006961
3QDPRp.Leu74ProVAR_006962
4QDPRp.Trp108GlyVAR_006963
5QDPRp.Pro145LeuVAR_006965
6QDPRp.Tyr150CysVAR_006966
7QDPRp.Gly151SerVAR_006967
8QDPRp.His158TyrVAR_006968
9QDPRp.Gly170SerVAR_006969
10QDPRp.Phe212CysVAR_006970
11QDPRp.Leu14ProVAR_008121
12QDPRp.Gly17ValVAR_008122
13QDPRp.Gly17ArgVAR_021767
14QDPRp.Gly18AspVAR_021768
15QDPRp.Gln66ArgVAR_021769
16QDPRp.Gly149ArgVAR_021770

Clinvar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, C:

6
id Gene Variation Type Significance SNP ID Assembly Location
1QDPRQDPR, 3-BP INS, 390ACTinsertionPathogenic
2QDPRNM_000320.2(QDPR): c.68G> A (p.Gly23Asp)single nucleotide variantPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
3QDPRNM_000320.2(QDPR): c.322T> G (p.Trp108Gly)single nucleotide variantPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
4QDPRNM_000320.2(QDPR): c.106T> C (p.Trp36Arg)single nucleotide variantPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
5QDPRQDPR, IVS3, A-G, 152-BP INSinsertionPathogenic
6QDPRNM_000320.2(QDPR): c.449A> G (p.Tyr150Cys)single nucleotide variantPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
7QDPRNM_000320.2(QDPR): c.270G> A (p.Trp90Ter)single nucleotide variantPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027

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

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Search GEO for disease gene expression data for Hyperphenylalaninemia, Bh4-Deficient, C.

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

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Pathways related to Hyperphenylalaninemia, Bh4-Deficient, C according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.1QDPR, PAH
2
Show member pathways
tyrosine biosynthesis IV36
tetrahydrobiopterin salvage36
9.1QDPR, PAH

Compounds for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, C

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Hyperphenylalaninemia, Bh4-Deficient, C according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
17-biopterin439.5QDPR, PAH
26-biopterin439.5QDPR, PAH
3Sapropterin249.5PAH, QDPR
4dihydropteridine43 2410.5QDPR, PAH
5dihydrobiopterin43 2410.5QDPR, PAH
6sepiapterin43 2410.5PAH, QDPR
7pterin43 2410.4QDPR, PAH
8tetrahydrobiopterin43 24 1211.4QDPR, PAH
9dihydrofolate439.4PAH, QDPR
10neopterin439.4QDPR, PAH
11levodopa43 1210.4QDPR, PAH
12amine439.4PAH, QDPR
13catecholamine439.4QDPR, PAH
14folate439.4QDPR, PAH
15phenylalanine439.3PAH, QDPR
16norepinephrine43 24 1211.3QDPR, PAH
17gtp43 2810.3QDPR, PAH
18hydrogen43 2410.2PAH, QDPR
19lysine439.2QDPR, PAH
20dopamine43 28 24 1212.1QDPR, PAH
21alanine439.1QDPR, PAH
22h2o2439.0PAH, QDPR
23threonine438.8QDPR, PAH

GO Terms for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, C

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Biological processes related to Hyperphenylalaninemia, Bh4-Deficient, C according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:00442819.1QDPR, PAH
2L-phenylalanine catabolic processGO:00065599.0QDPR, PAH
3cellular nitrogen compound metabolic processGO:00346418.8QDPR, PAH

Products for genes affiliated with Hyperphenylalaninemia, Bh4-Deficient, C

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperphenylalaninemia, Bh4-Deficient, C

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet