HPABH4C
MCID: HYP368
MIFTS: 35

Hyperphenylalaninemia, Bh4-Deficient, C (HPABH4C)

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

Aliases & Classifications for Hyperphenylalaninemia, Bh4-Deficient, C

MalaCards integrated aliases for Hyperphenylalaninemia, Bh4-Deficient, C:

Name: Hyperphenylalaninemia, Bh4-Deficient, C 57 72 13
Dihydropteridine Reductase Deficiency 57 73 20 58 72 29 6 39
Quinoid Dihydropteridine Reductase Deficiency 57 20 72
Dhpr Deficiency 57 20 72
Qdpr Deficiency 57 20 72
Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency 20 58
Phenylketonuria Type 2 20 58
Pku Type 2 20 58
Hpabh4c 57 72
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Dhpr Deficiency 57
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due to Dhpr Deficiency 72
Hyperphenylalaninemia, Bh-4-Deficient, C 20
Phenylketonuria Ii 70

Characteristics:

Orphanet epidemiological data:

58
dihydropteridine reductase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
defect in tetrahydrobiopterin (bh4) synthesis
progressive neurologic deterioration if untreated
diurnal fluctuation of neurologic symptoms
treatment with bh4 is effective
neurotransmitter treatment with l-dopa and serotonin or precursors is effective
early treatment can reduce neurologic symptoms


HPO:

31
hyperphenylalaninemia, bh4-deficient, c:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 261630
MeSH 44 D010661
MESH via Orphanet 45 C537896
ICD10 via Orphanet 33 E70.1
UMLS via Orphanet 71 C0268465 C2936906
Orphanet 58 ORPHA226
MedGen 41 C0268465
UMLS 70 C0268465

Summaries for Hyperphenylalaninemia, Bh4-Deficient, C

GARD : 20 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.

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 and tremor. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, C is QDPR (Quinoid Dihydropteridine Reductase). Related phenotypes are intellectual disability and dysphagia

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin... more...

More information from OMIM: 261630

Related Diseases for Hyperphenylalaninemia, Bh4-Deficient, C

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

Hyperphenylalaninemia, Bh4-Deficient, C Hyperphenylalaninemia, Bh4-Deficient, a
Hyperphenylalaninemia, Bh4-Deficient, D

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 hyperphenylalaninemia, bh4-deficient, a 10.9
2 hyperphenylalaninemia 10.8
3 phenylketonuria 10.6
4 tetrahydrobiopterin deficiency 10.5
5 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.3
6 parkinsonism 10.2
7 microcephaly 10.2
8 hypotonia 10.2
9 folate malabsorption, hereditary 10.1
10 leukemia, acute lymphoblastic 10.1
11 hyperprolactinemia 10.1
12 west syndrome 10.1
13 autosomal recessive disease 10.1
14 basal ganglia calcification 10.1
15 epilepsy 10.1
16 adrenal neuroblastoma 10.1
17 neuroblastoma 10.1
18 cerebral atrophy 10.1
19 seizure disorder 10.1
20 mild hyperphenylalaninemia 10.1
21 ataxia and polyneuropathy, adult-onset 10.0
22 inherited metabolic disorder 10.0

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

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 tremor 31 HP:0001337
6 cerebral calcification 31 HP:0002514
7 hypertonia 31 HP:0001276
8 myoclonus 31 HP:0001336
9 irritability 31 HP:0000737
10 dystonia 31 HP:0001332
11 choreoathetosis 31 HP:0001266
12 psychomotor retardation 31 HP:0025356
13 progressive neurologic deterioration 31 HP:0002344
14 excessive salivation 31 HP:0003781
15 recurrent fever 31 HP:0001954
16 hyperphenylalaninemia 31 HP:0004923
17 seizure 31 HP:0001250
18 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
tremor
dystonia
choreoathetosis
psychomotor retardation
more
Neurologic Behavioral Psychiatric Manifestations:
irritability

Growth Other:
poor feeding in infancy

Abdomen Gastrointestinal:
swallowing difficulties

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
hyperphenylalaninemia
decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf
increased biopterin in urine and csf
decreased or absent dihydropteridine reductase activity

Metabolic Features:
hyperthermia, episodic

Head And Neck Mouth:
hypersalivation

Clinical features from OMIM®:

261630 (Updated 20-May-2021)

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:

# Genetic test Affiliating Genes
1 Dihydropteridine Reductase Deficiency 29 QDPR

Anatomical Context for Hyperphenylalaninemia, Bh4-Deficient, C

Publications for Hyperphenylalaninemia, Bh4-Deficient, C

Articles related to Hyperphenylalaninemia, Bh4-Deficient, C:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. 61 6 57
9744478 1998
2
Molecular basis of dihydropteridine reductase deficiency. 6 57 61
7627180 1995
3
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. 57 6 61
2116088 1990
4
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). 57 6
11153907 2000
5
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients. 61 57
10029353 1998
6
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients. 61 6
9341885 1997
7
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency. 61 6
8518287 1993
8
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy. 61 57
2785251 1989
9
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. 57 61
2895188 1988
10
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. 57 61
3031582 1987
11
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases. 57 61
3930875 1985
12
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. 61 57
7367090 1980
13
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells. 57 61
6101503 1980
14
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells. 57 61
93181 1979
15
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency. 57 61
28230 1978
16
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells. 61 57
978323 1976
17
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations. 6
26006720 2015
18
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 6
8326489 1993
19
Malignant hyperphenylalaninemia--clinical features, biochemical findings, and experience with administration of biopterins. 57
503643 1979
20
A new variant form of phenylketonuria. 57
317358 1979
21
Malignant hyperphenylalaninaemia--current status (June 1977). 57
117241 1978
22
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria. 57
53532 1975
23
Phenylketonuria due to a deficiency of dihydropteridine reductase. 57
1160969 1975
24
New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction. 57
49470 1975
25
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. 61
33443316 2021
26
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management. 61
33095372 2021
27
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. 61
32022462 2020
28
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation. 61
29594939 2018
29
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia. 61
28801146 2018
30
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients. 61
29116116 2017
31
Parkinsonism in Association with Dihydropteridine Reductase Deficiency. 61
28413401 2017
32
Transdermal rotigotine in dihydropteridine reductase deficiency. 61
27423595 2016
33
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: a semi-mechanistically-based, nonlinear mixed-effect modeling. 61
25726095 2015
34
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency. 61
25124972 2014
35
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency. 61
25667865 2014
36
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. 61
22832064 2013
37
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. 61
23430801 2013
38
Monoamine neurotransmitter deficiencies. 61
23622404 2013
39
Dopamine agonists in dihydropteridine reductase deficiency. 61
22325981 2012
40
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. 61
21416196 2011
41
Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation. 61
20823030 2011
42
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. 61
18425437 2008
43
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]. 61
19099731 2008
44
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. 61
17190955 2006
45
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. 61
16275037 2005
46
Cerebral folate deficiency. 61
15581159 2004
47
Dihydropteridine reductase deficiency in man: from biology to treatment. 61
14705166 2004
48
[Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patients]. 61
11937441 2002
49
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis. 61
11746132 2001
50
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone. 61
11174152 2000

Variations for Hyperphenylalaninemia, Bh4-Deficient, C

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

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 QDPR QDPR, 3-BP INS, 390ACT Insertion Pathogenic 489 GRCh37:
GRCh38:
2 QDPR NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) SNV Pathogenic 490 rs104893863 GRCh37: 4:17513610-17513610
GRCh38: 4:17511987-17511987
3 QDPR NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) SNV Pathogenic 491 rs104893864 GRCh37: 4:17503456-17503456
GRCh38: 4:17501833-17501833
4 QDPR NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) SNV Pathogenic 492 rs104893865 GRCh37: 4:17510986-17510986
GRCh38: 4:17509363-17509363
5 QDPR QDPR, IVS3, A-G, 152-BP INS Insertion Pathogenic 493 GRCh37:
GRCh38:
6 QDPR NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) SNV Pathogenic 494 rs104893866 GRCh37: 4:17493951-17493951
GRCh38: 4:17492328-17492328
7 QDPR NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) SNV Pathogenic 495 rs104893867 GRCh37: 4:17506027-17506027
GRCh38: 4:17504404-17504404
8 QDPR NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter) SNV Pathogenic 567509 rs1171544975 GRCh37: 4:17513630-17513630
GRCh38: 4:17512007-17512007
9 QDPR NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) SNV Pathogenic 802058 rs779997983 GRCh37: 4:17488828-17488828
GRCh38: 4:17487205-17487205
10 QDPR NM_000320.3(QDPR):c.421del (p.Leu141fs) Deletion Pathogenic 802059 rs1577191558 GRCh37: 4:17503357-17503357
GRCh38: 4:17501734-17501734
11 QDPR NM_000320.3(QDPR):c.174del (p.Ser59fs) Deletion Pathogenic 802060 rs1577195951 GRCh37: 4:17510918-17510918
GRCh38: 4:17509295-17509295
12 overlap with 73 genes Inversion Pathogenic 626310 GRCh37:
GRCh38: 4:8398067-17505522
13 QDPR NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) SNV Pathogenic/Likely pathogenic 459896 rs1407920390 GRCh37: 4:17503434-17503434
GRCh38: 4:17501811-17501811
14 QDPR NM_000320.3(QDPR):c.472C>T (p.His158Tyr) SNV Likely pathogenic 505871 rs750201480 GRCh37: 4:17493928-17493928
GRCh38: 4:17492305-17492305
15 QDPR NM_000320.3(QDPR):c.546-2A>G SNV Likely pathogenic 657153 rs1577184852 GRCh37: 4:17492370-17492370
GRCh38: 4:17490747-17490747
16 QDPR NM_000320.3(QDPR):c.546-1G>A SNV Likely pathogenic 1030733 GRCh37: 4:17492369-17492369
GRCh38: 4:17490746-17490746
17 QDPR NM_000320.3(QDPR):c.450C>T (p.Tyr150=) SNV Conflicting interpretations of pathogenicity 529411 rs140949360 GRCh37: 4:17493950-17493950
GRCh38: 4:17492327-17492327
18 QDPR NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) SNV Conflicting interpretations of pathogenicity 348154 rs112209600 GRCh37: 4:17492326-17492326
GRCh38: 4:17490703-17490703
19 QDPR NM_000320.3(QDPR):c.490C>G (p.Leu164Val) SNV Uncertain significance 659051 rs774366700 GRCh37: 4:17493910-17493910
GRCh38: 4:17492287-17492287
20 QDPR NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) SNV Uncertain significance 954325 GRCh37: 4:17488827-17488827
GRCh38: 4:17487204-17487204
21 QDPR NM_000320.3(QDPR):c.546-9C>A SNV Uncertain significance 955807 GRCh37: 4:17492377-17492377
GRCh38: 4:17490754-17490754
22 QDPR NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup) Microsatellite Uncertain significance 958406 GRCh37: 4:17513660-17513661
GRCh38: 4:17512037-17512038
23 QDPR NM_000320.3(QDPR):c.8C>T (p.Ala3Val) SNV Uncertain significance 998512 GRCh37: 4:17513670-17513670
GRCh38: 4:17512047-17512047
24 QDPR NM_000320.3(QDPR):c.600C>G (p.Ser200Arg) SNV Uncertain significance 1003665 GRCh37: 4:17492314-17492314
GRCh38: 4:17490691-17490691
25 QDPR NM_000320.3(QDPR):c.55A>T (p.Arg19Trp) SNV Uncertain significance 1008716 GRCh37: 4:17513623-17513623
GRCh38: 4:17512000-17512000
26 QDPR NM_000320.3(QDPR):c.118G>A (p.Val40Ile) SNV Uncertain significance 1030732 GRCh37: 4:17510974-17510974
GRCh38: 4:17509351-17509351
27 QDPR NM_000320.3(QDPR):c.359A>G (p.His120Arg) SNV Uncertain significance 863433 GRCh37: 4:17503419-17503419
GRCh38: 4:17501796-17501796
28 QDPR NM_000320.3(QDPR):c.*46C>A SNV Uncertain significance 899738 GRCh37: 4:17488708-17488708
GRCh38: 4:17487085-17487085
29 QDPR NM_000320.3(QDPR):c.486G>C (p.Gln162His) SNV Uncertain significance 899739 GRCh37: 4:17493914-17493914
GRCh38: 4:17492291-17492291
30 QDPR NM_000320.3(QDPR):c.444C>T (p.Ile148=) SNV Uncertain significance 899740 GRCh37: 4:17493956-17493956
GRCh38: 4:17492333-17492333
31 QDPR NM_000320.3(QDPR):c.297T>C (p.Ser99=) SNV Uncertain significance 900896 GRCh37: 4:17503481-17503481
GRCh38: 4:17501858-17501858
32 QDPR NM_000320.3(QDPR):c.287A>G (p.Lys96Arg) SNV Uncertain significance 900897 GRCh37: 4:17506010-17506010
GRCh38: 4:17504387-17504387
33 QDPR NM_000320.3(QDPR):c.*374G>C SNV Uncertain significance 902489 GRCh37: 4:17488380-17488380
GRCh38: 4:17486757-17486757
34 QDPR NM_000320.3(QDPR):c.147C>T (p.Ser49=) SNV Uncertain significance 902566 GRCh37: 4:17510945-17510945
GRCh38: 4:17509322-17509322
35 QDPR NM_000320.3(QDPR):c.-17G>T SNV Uncertain significance 902567 GRCh37: 4:17513694-17513694
GRCh38: 4:17512071-17512071
36 QDPR NM_000320.3(QDPR):c.*277T>C SNV Uncertain significance 903353 GRCh37: 4:17488477-17488477
GRCh38: 4:17486854-17486854
37 QDPR NM_000320.3(QDPR):c.*187A>C SNV Uncertain significance 903354 GRCh37: 4:17488567-17488567
GRCh38: 4:17486944-17486944
38 QDPR NM_000320.3(QDPR):c.546G>A (p.Pro182=) SNV Uncertain significance 1036861 GRCh37: 4:17492368-17492368
GRCh38: 4:17490745-17490745
39 QDPR NM_000320.3(QDPR):c.*612T>C SNV Uncertain significance 900816 GRCh37: 4:17488142-17488142
GRCh38: 4:17486519-17486519
40 QDPR NM_000320.3(QDPR):c.545+2dup Duplication Uncertain significance 844381 GRCh37: 4:17493852-17493853
GRCh38: 4:17492229-17492230
41 QDPR NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr) SNV Uncertain significance 571689 rs777797545 GRCh37: 4:17488854-17488854
GRCh38: 4:17487231-17487231
42 QDPR NM_000320.3(QDPR):c.148G>A (p.Ala50Thr) SNV Uncertain significance 574275 rs143937910 GRCh37: 4:17510944-17510944
GRCh38: 4:17509321-17509321
43 QDPR NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) SNV Uncertain significance 623325 rs757483045 GRCh37: 4:17513629-17513629
GRCh38: 4:17512006-17512006
44 QDPR NM_000320.3(QDPR):c.157A>G (p.Ile53Val) SNV Uncertain significance 348161 rs550966415 GRCh37: 4:17510935-17510935
GRCh38: 4:17509312-17509312
45 QDPR NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) SNV Uncertain significance 348159 rs147257284 GRCh37: 4:17506026-17506026
GRCh38: 4:17504403-17504403
46 QDPR NM_000320.3(QDPR):c.365C>A (p.Ala122Asp) SNV Uncertain significance 459897 rs1553875105 GRCh37: 4:17503413-17503413
GRCh38: 4:17501790-17501790
47 QDPR NM_000320.3(QDPR):c.*450T>A SNV Uncertain significance 348143 rs886059237 GRCh37: 4:17488304-17488304
GRCh38: 4:17486681-17486681
48 QDPR NM_000320.3(QDPR):c.*568T>G SNV Uncertain significance 348140 rs560933456 GRCh37: 4:17488186-17488186
GRCh38: 4:17486563-17486563
49 QDPR NM_000320.3(QDPR):c.*329T>G SNV Uncertain significance 348146 rs886059238 GRCh37: 4:17488425-17488425
GRCh38: 4:17486802-17486802
50 QDPR NM_000320.3(QDPR):c.*31C>T SNV Uncertain significance 348152 rs377243912 GRCh37: 4:17488723-17488723
GRCh38: 4:17487100-17487100

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

72 (show all 16)
# 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 rs115830498
4 QDPR p.Trp108Gly VAR_006963 rs104893864
5 QDPR p.Pro145Leu VAR_006965 rs156031294
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 rs777797545
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 rs127837118
15 QDPR p.Gln66Arg VAR_021769 rs125248825
16 QDPR p.Gly149Arg VAR_021770 rs102802916

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

3 CDC
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