Glycogen storage disease due to aldolase A deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GSD XII
ALDOLASE A DEFICIENCY
ALDOA DEFICIENCY
RED CELL ALDOLASE DEFICIENCY
ALDOLASE DEFICIENCY, RED CELL
GSD12
GSD type 12
Glycogen storage disease type 12
GSD due to aldolase A deficiency
Glycogenosis type 12
Glycogenosis due to aldolase A deficiency
Number of Symptoms 19
OrphanetNr: 57
OMIM Id: 611881
ICD-10: E74.0
UMLs: C0272066
MeSH:
MedDRA:
Snomed: 111578003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease
Hemolytic anemia due to a disorder of glycolytic enzymes
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000286) Epicanthus 371 / 7739
2
 (HPO:0002162) Low posterior hairline 88 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0001249) Intellectual disability Occasional [HPO:probinson] 1089 / 7739
6
 (HPO:0000823) Delayed puberty 65 / 7739
7
 (HPO:0001082) Cholecystitis 9 / 7739
8
 (HPO:0001744) Splenomegaly 337 / 7739
9
 (HPO:0001081) Cholelithiasis 36 / 7739
10
 (HPO:0000952) Jaundice 105 / 7739
11
 (HPO:0004322) Short stature 1232 / 7739
12
 (HPO:0001897) Normocytic anemia 7 / 7739
13
 (HPO:0001895) Normochromic anemia 7 / 7739
14
 (HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
15
 (HPO:0003198) Myopathy Occasional [HPO:probinson] 151 / 7739
16
 (OMIM) Normal red cell osmotic fragility 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Congenital nonspherocytic hemolytic anemia 1 / 7739
19
 (OMIM) Aldolase A deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., 1987).
Clinical Description OMIM Beutler et al. (1973) described a son of first-cousin parents who had nonspherocytic hemolytic anemia, mental retardation, and increased hepatic glycogen due, apparently, to deficiency of red cell aldolase. Puzzlingly, both parents had normal levels of red cell ...
Molecular genetics OMIM Kishi et al. (1987) studied a patient with red cell aldolase deficiency reported by Miwa et al. (1981) and identified a mutation in the ALDOA gene that resulted in an asp128-to-gly (D128G; 103850.0001) substitution in the protein. The ...