Dihydropyrimidinuria

General Information (adopted from Orphanet):

Synonyms, Signs: DPYS DEFICIENCY
DPH DEFICIENCY
DIHYDROPYRIMIDINURIA
Dihydropyrimidinase deficiency
Number of Symptoms 29
OrphanetNr: 38874
OMIM Id: 222748
ICD-10: E79.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of pyrimidine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001999) Abnormal facial shape 169 / 7739
2
 (HPO:0001357) Plagiocephaly 106 / 7739
3
 (HPO:0007256) Abnormal pyramidal signs rare [HPO:skoehler] 116 / 7739
4
 (HPO:0001254) Lethargy 104 / 7739
5
 (HPO:0007308) Extrapyramidal dyskinesia 5 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0001262) Somnolence 20 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0000750) Delayed speech and language development 197 / 7739
10
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
11
 (HPO:0009803) Short phalanx of finger 79 / 7739
12
 (HPO:0001761) Pes cavus 225 / 7739
13
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
14
 (HPO:0004684) Talipes valgus 28 / 7739
15
 (HPO:0001762) Talipes equinovarus 309 / 7739
16
 (HPO:0001840) Metatarsus adductus 49 / 7739
17
 (HPO:0002023) Anal atresia 135 / 7739
18
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
19
 (HPO:0001510) Growth delay 295 / 7739
20
 (HPO:0001942) Metabolic acidosis 81 / 7739
21
 (HPO:0003654) Reduced dihydropyrimidine dehydrogenase activity 2 / 7739
22
 (HPO:0003812) Phenotypic variability 129 / 7739
23
 (OMIM) Increased thymine and dihydrothymine in bodily fluids 1 / 7739
24
 (OMIM) Extrapyramidal dyskinesias (1 patient) 1 / 7739
25
 (OMIM) Increased uracil and dihydrouracil in bodily fluids 1 / 7739
26
 (OMIM) Low anal atresia (1 patient) 1 / 7739
27
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
28
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

DPYS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DPYS deficiency is an autosomal recessive inborn error of pyrimidine metabolism. Less than a dozen affected individuals have been reported. About half are asymptomatic, but rare patients with neurologic abnormalities have been reported. It is unclear whether or not ...
Clinical Description OMIM Duran et al. (1991) reported a Turkish male infant, the fifth child of a consanguineous couple, who was thought to have dihydropyrimidinase deficiency. The infant was well until the age of 8 weeks when he developed feeding problems following ...
Molecular genetics OMIM In 1 symptomatic and 5 asymptomatic persons presenting with dihydropyrimidinuria due to DPYS deficiency, Hamajima et al. (1998) identified 1 frameshift mutation and 5 missense mutations in the DPYS gene (see, e.g., 613326.0001-613326.0003). Two unaffected Japanese adult sibs, who ...