MCID: HYP368
MIFTS: 31

Hyperphenylalaninemia, Bh4-Deficient, C malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

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Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
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Aliases & Descriptions for Hyperphenylalaninemia, Bh4-Deficient, C:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
hyperphenylalaninemia, bh4-deficient, c:
Onset and clinical course: variable expressivity, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 261630
Orphanet51 226
ICD10 via Orphanet28 E70.1
MESH via Orphanet37 C537896
UMLS via Orphanet66 C0268465, C2936906
MedGen34 C0268465
MeSH36 D010661
UMLS65 C0268465

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

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NIH Rare Diseases:45 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 breast cancer and hyperphenylalaninemia, bh4-deficient, a, and has symptoms including cognitive impairment, microcephaly and hyperphenylalaninemia. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Affiliated tissues include brain and bone.

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.

Description from OMIM:49 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

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Graphical network of the top 20 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 19)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 microcephaly hallmark (90%) HP:0000252
3 hyperphenylalaninemia HP:0004923
4 excessive salivation HP:0003781
5 cerebral calcification HP:0002514
6 progressive neurologic deterioration HP:0002344
7 dysphagia HP:0002015
8 episodic fever HP:0001954
9 tremor HP:0001337
10 myoclonus HP:0001336
11 dystonia HP:0001332
12 hypertonia HP:0001276
13 choreoathetosis HP:0001266
14 global developmental delay HP:0001263
15 muscular hypotonia HP:0001252
16 seizures HP:0001250
17 intellectual disability HP:0001249
18 irritability HP:0000737
19 microcephaly HP:0000252

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 Bh4-Deficient Hyperphenylalaninemia C22 QDPR

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

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

33
Brain, Bone

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