HPABH4C
MCID: HYP368
MIFTS: 28

Hyperphenylalaninemia, Bh4-Deficient, C (HPABH4C) malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

About this section
Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Hyperphenylalaninemia, Bh4-Deficient, C 52 70 12
Dihydropteridine Reductase Deficiency 48 24 54 70 27
Quinoid Dihydropteridine Reductase Deficiency 48 24 70
Qdpr Deficiency 48 24 70
Dhpr Deficiency 48 24 70
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 48 54
Phenylketonuria Type 2 48 54
 
Pku Type 2 48 54
Hpabh4c 24 70
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency 70
Hyperphenylalaninemia, Bh-4-Deficient, C 48
Bh4-Deficient Hyperphenylalaninemia C 24
Quinoid Dihydropteridine Reductase 12
Phenylketonuria Ii 68

Characteristics:

Orphanet epidemiological data:

54
dihydropteridine reductase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
hyperphenylalaninemia, bh4-deficient, c:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, variable expressivity

Classifications:



External Ids:

OMIM52 261630
Orphanet54 ORPHA226
MESH via Orphanet40 C537896
UMLS via Orphanet69 C0268465, C2936906
ICD10 via Orphanet31 E70.1
MedGen37 C0268465
MeSH39 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

About this section
NIH Rare Diseases:48 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, bh4-deficient, a and hyperphenylalaninemia, and has symptoms including seizures, seizures and tremor. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:70 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:52 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

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
1hyperphenylalaninemia, bh4-deficient, a10.8
2hyperphenylalaninemia10.3
3phenylketonuria10.2
4neuroblastoma9.9
5leukemia9.9
6lymphoblastic leukemia9.9
7mild hyperphenylalaninemia9.9

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



Diseases related to hyperphenylalaninemia, bh4-deficient, c

Symptoms & Phenotypes for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

Symptoms by clinical synopsis from OMIM:

261630

Clinical features from OMIM:

261630

Human phenotypes related to Hyperphenylalaninemia, Bh4-Deficient, C:

 54 64 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Very frequent (99-80%) HP:0000252
2 intellectual disability64 54 Very frequent (99-80%) HP:0001249
3 global developmental delay64 54 Very frequent (99-80%) HP:0001263
4 dysphagia64 54 Very frequent (99-80%) HP:0002015
5 irritability64 HP:0000737
6 seizures64 HP:0001250
7 muscular hypotonia64 HP:0001252
8 choreoathetosis64 HP:0001266
9 hypertonia64 HP:0001276
10 dystonia64 HP:0001332
11 myoclonus64 HP:0001336
12 tremor64 HP:0001337
13 episodic fever64 HP:0001954
14 progressive neurologic deterioration64 HP:0002344
15 cerebral calcification64 HP:0002514
16 excessive salivation64 HP:0003781
17 hyperphenylalaninemia64 HP:0004923

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


seizures, tremor

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

Interventional clinical trials:

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

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

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

id Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency27
2 Bh4-Deficient Hyperphenylalaninemia C24 QDPR

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

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

36
Brain

Publications for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

Variations for Hyperphenylalaninemia, Bh4-Deficient, C

About this section

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

70 (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)SNVPathogenicrs104893863GRCh37Chr 4, 17513610: 17513610
3QDPRNM_ 000320.2(QDPR): c.322T> G (p.Trp108Gly)SNVPathogenicrs104893864GRCh37Chr 4, 17503456: 17503456
4QDPRNM_ 000320.2(QDPR): c.106T> C (p.Trp36Arg)SNVPathogenicrs104893865GRCh37Chr 4, 17510986: 17510986
5QDPRQDPR, IVS3, A-G, 152-BP INSinsertionPathogenic
6QDPRNM_ 000320.2(QDPR): c.449A> G (p.Tyr150Cys)SNVPathogenicrs104893866GRCh37Chr 4, 17493951: 17493951
7QDPRNM_ 000320.2(QDPR): c.270G> A (p.Trp90Ter)SNVPathogenicrs104893867GRCh37Chr 4, 17506027: 17506027

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

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

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

About this section

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

About this section

Sources for Hyperphenylalaninemia, Bh4-Deficient, C

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet