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:
46OMIM, 9diseasecard, 20GeneTests, 42NIH Rare Diseases, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, C 46 9 20
Dihydropteridine Reductase Deficiency 42 48 22 61
Variant Pku 42 20 48
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 42 48
Variant Phenylketonuria 42 48
Phenylketonuria Type 2 42 48
Mild Phenylketonuria 42 48
Pku Type 2 42 48
 
Mild Pku 42 48
Mpku 42 48
Quinoid Dihydropteridine Reductase Deficiency 42
Hyperphenylalaninemia, Bh-4-Deficient, C 42
Phenylketonuria Ii 61
Qdpr Deficiency 42
Dhpr Deficiency 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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:

OMIM46 261630
Orphanet48 226, 79253
MESH via Orphanet34 C537896
ICD10 via Orphanet26 E70.1
UMLS via Orphanet62 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:46 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:

 48
  • 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:

63 (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:

5
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:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
See all sources

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

(show all 23)
idCompoundScoreTop Affiliating Genes
17-biopterin449.5QDPR, PAH
26-biopterin449.5QDPR, PAH
3Sapropterin249.5PAH, QDPR
4dihydropteridine44 2410.5QDPR, PAH
5dihydrobiopterin44 2410.5QDPR, PAH
6sepiapterin44 2410.5PAH, QDPR
7pterin44 2410.4QDPR, PAH
8tetrahydrobiopterin44 24 1111.4QDPR, PAH
9dihydrofolate449.4PAH, QDPR
10neopterin449.4QDPR, PAH
11levodopa44 1110.4QDPR, PAH
12amine449.4PAH, QDPR
13catecholamine449.4QDPR, PAH
14folate449.4QDPR, PAH
15phenylalanine449.3PAH, QDPR
16norepinephrine44 24 1111.3QDPR, PAH
17gtp44 2810.3QDPR, PAH
18hydrogen44 2410.2PAH, QDPR
19lysine449.2QDPR, PAH
20dopamine44 28 24 1112.1QDPR, PAH
21alanine449.1QDPR, PAH
22h2o2449.0PAH, QDPR
23threonine448.8QDPR, 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

Sources for Hyperphenylalaninemia, Bh4-Deficient, C

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet