MCID: HYP368
MIFTS: 29

Hyperphenylalaninemia, Bh4-Deficient, C malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, C 50 68 12
Dihydropteridine Reductase Deficiency 46 23 52 68 25
Quinoid Dihydropteridine Reductase Deficiency 46 23 68
Qdpr Deficiency 46 23 68
Dhpr Deficiency 46 23 68
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 46 52
Phenylketonuria Type 2 46 52
 
Pku Type 2 46 52
Hpabh4c 23 68
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency 68
Hyperphenylalaninemia, Bh-4-Deficient, C 46
Bh4-Deficient Hyperphenylalaninemia C 23
Quinoid Dihydropteridine Reductase 12
Phenylketonuria Ii 66

Characteristics:

Orphanet epidemiological data:

52
dihydropteridine reductase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

62
hyperphenylalaninemia, bh4-deficient, c:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity


Classifications:



External Ids:

OMIM50 261630
Orphanet52 ORPHA226
ICD10 via Orphanet29 E70.1
MESH via Orphanet38 C537896
UMLS via Orphanet67 C0268465, C2936906
MedGen35 C0268465
MeSH37 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

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NIH Rare Diseases:46 Dihydropteridine reductase deficiency (dhpr) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (bh4). tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. if little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. this results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. dhpr deficiency is caused by mutations in the qdpr gene. it is inherited in an autosomal recessive manner. treatment should be started as soon as possible and includes bh4 supplementation usually combined with a diet without phenylalanine, folate supplementation, and specific medications to restore the levels of neurotransmitters in the brain. last updated: 12/28/2015

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 microcephaly. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:68 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.

Description from OMIM:50 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
1hyperphenylalaninemia10.4
2phenylketonuria10.3
3neuroblastoma10.0
4leukemia10.0
5lymphoblastic leukemia10.0
6mild hyperphenylalaninemia10.0
7hyperphenylalaninemia, bh4-deficient, a10.0

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:

 52
  • microcephaly
  • intellectual disability
  • global developmental delay
  • dysphagia

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

(show all 19)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 cognitive impairment hallmark (90%) HP:0100543
3 microcephaly HP:0000252
4 irritability HP:0000737
5 intellectual disability HP:0001249
6 seizures HP:0001250
7 muscular hypotonia HP:0001252
8 global developmental delay HP:0001263
9 choreoathetosis HP:0001266
10 hypertonia HP:0001276
11 dystonia HP:0001332
12 myoclonus HP:0001336
13 tremor HP:0001337
14 episodic fever HP:0001954
15 dysphagia HP:0002015
16 progressive neurologic deterioration HP:0002344
17 cerebral calcification HP:0002514
18 excessive salivation HP:0003781
19 hyperphenylalaninemia HP:0004923

UMLS symptoms related to Hyperphenylalaninemia, Bh4-Deficient, C:


seizures, tremor

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, C

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Interventional clinical trials:

Search ClinicalTrials, 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 Dihydropteridine Reductase Deficiency25
2 Bh4-Deficient Hyperphenylalaninemia C23 QDPR

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

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MalaCards organs/tissues related to Hyperphenylalaninemia, Bh4-Deficient, C:

34
Brain

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:

68 (show all 16)
id Symbol AA change Variation ID SNP ID
1QDPRp.Gly23AspVAR_006960rs104893863
2QDPRp.Trp36ArgVAR_006961rs104893865
3QDPRp.Leu74ProVAR_006962
4QDPRp.Trp108GlyVAR_006963rs104893864
5QDPRp.Pro145LeuVAR_006965
6QDPRp.Tyr150CysVAR_006966rs104893866
7QDPRp.Gly151SerVAR_006967
8QDPRp.His158TyrVAR_006968rs750201480
9QDPRp.Gly170SerVAR_006969rs769460415
10QDPRp.Phe212CysVAR_006970
11QDPRp.Leu14ProVAR_008121rs756639609
12QDPRp.Gly17ValVAR_008122
13QDPRp.Gly17ArgVAR_021767rs757483045
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet