Hyperphenylalaninemia, Bh4-Deficient, C (HPABH4C) malady

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

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

Name: Hyperphenylalaninemia, Bh4-Deficient, C 54 66 13
Dihydropteridine Reductase Deficiency 50 24 56 66 29
Quinoid Dihydropteridine Reductase Deficiency 50 24 66
Dhpr Deficiency 50 24 66
Qdpr Deficiency 50 24 66
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 50 56
Phenylketonuria Type 2 50 56
Pku Type 2 50 56
Hpabh4c 24 66
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency 66
Hyperphenylalaninemia, Bh-4-Deficient, C 50
Bh4-Deficient Hyperphenylalaninemia C 24
Quinoid Dihydropteridine Reductase 13
Phenylketonuria Ii 69


Orphanet epidemiological data:

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


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


External Ids:

OMIM 54 261630
Orphanet 56 ORPHA226
MESH via Orphanet 43 C537896
UMLS via Orphanet 70 C0268465 C2936906
ICD10 via Orphanet 34 E70.1
MedGen 40 C0268465
MeSH 42 D010661

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

NIH Rare Diseases : 50 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 intellectual disability, dysphagia and global developmental delay. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 66 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: 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

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:

id Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 10.8
2 hyperphenylalaninemia 10.3
3 phenylketonuria 10.2
4 neuroblastoma 9.9
5 leukemia 9.9
6 lymphoblastic leukemia 9.9
7 mild hyperphenylalaninemia 9.9

Graphical network of the top 20 diseases related to Hyperphenylalaninemia, Bh4-Deficient, C:

Diseases related to Hyperphenylalaninemia, Bh4-Deficient, C

Symptoms & Phenotypes for Hyperphenylalaninemia, Bh4-Deficient, C

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


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

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
2 dysphagia 56 32 Very frequent (99-80%) HP:0002015
3 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
4 microcephaly 56 32 Very frequent (99-80%) HP:0000252
5 seizures 32 HP:0001250
6 myoclonus 32 HP:0001336
7 tremor 32 HP:0001337
8 dystonia 32 HP:0001332
9 muscular hypotonia 32 HP:0001252
10 cerebral calcification 32 HP:0002514
11 hypertonia 32 HP:0001276
12 irritability 32 HP:0000737
13 choreoathetosis 32 HP:0001266
14 excessive salivation 32 HP:0003781
15 episodic fever 32 HP:0001954
16 progressive neurologic deterioration 32 HP:0002344
17 hyperphenylalaninemia 32 HP:0004923

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

seizures, tremor

Drugs & Therapeutics for Hyperphenylalaninemia, Bh4-Deficient, C

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

Genetic Tests for Hyperphenylalaninemia, Bh4-Deficient, C

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

id Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency 29
2 Bh4-Deficient Hyperphenylalaninemia C 24 QDPR

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

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


Publications for Hyperphenylalaninemia, Bh4-Deficient, C

Variations for Hyperphenylalaninemia, Bh4-Deficient, C

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

66 (show all 16)
id Symbol AA change Variation ID SNP ID
1 QDPR p.Gly23Asp VAR_006960 rs104893863
2 QDPR p.Trp36Arg VAR_006961 rs104893865
3 QDPR p.Leu74Pro VAR_006962
4 QDPR p.Trp108Gly VAR_006963 rs104893864
5 QDPR p.Pro145Leu VAR_006965
6 QDPR p.Tyr150Cys VAR_006966 rs104893866
7 QDPR p.Gly151Ser VAR_006967
8 QDPR p.His158Tyr VAR_006968 rs750201480
9 QDPR p.Gly170Ser VAR_006969 rs769460415
10 QDPR p.Phe212Cys VAR_006970
11 QDPR p.Leu14Pro VAR_008121 rs756639609
12 QDPR p.Gly17Val VAR_008122
13 QDPR p.Gly17Arg VAR_021767 rs757483045
14 QDPR p.Gly18Asp VAR_021768
15 QDPR p.Gln66Arg VAR_021769
16 QDPR p.Gly149Arg VAR_021770

ClinVar genetic disease variations for Hyperphenylalaninemia, Bh4-Deficient, C:

id Gene Variation Type Significance SNP ID Assembly Location
1 QDPR QDPR, 3-BP INS, 390ACT insertion Pathogenic
2 QDPR NM_000320.2(QDPR): c.68G> A (p.Gly23Asp) single nucleotide variant Pathogenic rs104893863 GRCh37 Chromosome 4, 17513610: 17513610
3 QDPR NM_000320.2(QDPR): c.322T> G (p.Trp108Gly) single nucleotide variant Pathogenic rs104893864 GRCh37 Chromosome 4, 17503456: 17503456
4 QDPR NM_000320.2(QDPR): c.106T> C (p.Trp36Arg) single nucleotide variant Pathogenic rs104893865 GRCh37 Chromosome 4, 17510986: 17510986
5 QDPR QDPR, IVS3, A-G, 152-BP INS insertion Pathogenic
6 QDPR NM_000320.2(QDPR): c.449A> G (p.Tyr150Cys) single nucleotide variant Pathogenic rs104893866 GRCh37 Chromosome 4, 17493951: 17493951
7 QDPR NM_000320.2(QDPR): c.270G> A (p.Trp90Ter) single nucleotide variant Pathogenic rs104893867 GRCh37 Chromosome 4, 17506027: 17506027

Expression for Hyperphenylalaninemia, Bh4-Deficient, C

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

Pathways for Hyperphenylalaninemia, Bh4-Deficient, C

GO Terms for Hyperphenylalaninemia, Bh4-Deficient, C

Sources for Hyperphenylalaninemia, Bh4-Deficient, C

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70 UMLS via Orphanet
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