MCID: HYP368
MIFTS: 31

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:
49OMIM, 11diseasecard, 22GeneTests, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, C 49 11 22 67
Dihydropteridine Reductase Deficiency 45 22 51 24 65 67
Quinoid Dihydropteridine Reductase Deficiency 45 22 67
Qdpr Deficiency 45 22 67
Dhpr Deficiency 45 22 67
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 45 51
 
Phenylketonuria Type 2 45 51
Hpabh4c 22 67
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency 67
Hyperphenylalaninemia, Bh-4-Deficient, C 45
Phenylketonuria Ii 65
Pku Type 2 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
dihydropteridine reductase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 261630
Orphanet51 226
ICD10 via Orphanet28 E70.1
MESH via Orphanet37 C537896
UMLS via Orphanet66 C0268465, C2936906
MedGen34 C0268465
MeSH36 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

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UniProtKB/Swiss-Prot:67 Hyperphenylalaninemia, BH4-deficient, C: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.

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).

Description from OMIM:49 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

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Diseases in the Hyperphenylalaninemia, Bh4-Deficient, C family:

Hyperphenylalaninemia, Bh4-Deficient, D Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, B

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, C via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperphenylalaninemia10.7
2phenylketonuria10.7
3neuroblastoma10.3
4leukemia10.3
5lymphoblastic leukemia10.3
6neurologic diseases10.3
7mild hyperphenylalaninemia10.3
8hyperphenylalaninemia, bh4-deficient, a10.1

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:

 51
  • 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 22)
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 excessive salivation HP:0003781
21 variable expressivity HP:0003828
22 hyperphenylalaninemia HP:0004923

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, C

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Drugs for Hyperphenylalaninemia, Bh4-Deficient, C (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1phenylalanineNutraceuticalPhase 2130

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of BH4, a New and Simple Treatment of Mild PKUCompletedNCT00260000Phase 2
2Behavioral Effects of Kuvan in Children With Mild PhenylketonuriaTerminatedNCT00827762

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 C22 QDPR
2 Dihydropteridine Reductase Deficiency24

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:

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

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Sources for Hyperphenylalaninemia, Bh4-Deficient, C

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet