ACETYL-CoA ACETYLTRANSFERASE-2 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: ACAT2 DEFICIENCY
ACAT2D
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614055
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002072) Chorea 53 / 7739
2
(HPO:0001263) Global developmental delay 853 / 7739
3
(HPO:0002151) Increased serum lactate 92 / 7739
4
(HPO:0003542) Increased serum pyruvate 18 / 7739
5
(HPO:0010547) Muscle flaccidity 466 / 7739
6
(HPO:0001324) Muscle weakness 859 / 7739
7
(HPO:0001252) Muscular hypotonia 990 / 7739
8
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
9
(OMIM) Increased urinary ketones 1 / 7739
10
(OMIM) Ataxic movements 1 / 7739
11
(OMIM) Decreased activity of cytosolic acetoacetyl-CoA thiolase (ACAT2, 100678) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM De Groot et al. (1977) reported a child, born of unrelated parents, who had normal development until about 3 to 4 months of age, when she showed a slowing in motor development and even some loss in acquired ...