Hemolytic anemia due to glucophosphate isomerase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 712
OMIM Id: 613470
ICD-10: D55.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Disorder of glycolysis
 -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:0001249) Intellectual disability 1089 / 7739
2
 (HPO:0010871) Sensory ataxia 7 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0000952) Jaundice 105 / 7739
5
 (HPO:0011981) Pigment gallstones 1 / 7739
6
 (HPO:0001744) Splenomegaly 337 / 7739
7
 (HPO:0001082) Cholecystitis 9 / 7739
8
 (HPO:0005525) Spontaneous hemolytic crises 1 / 7739
9
 (HPO:0001930) Nonspherocytic hemolytic anemia 10 / 7739
10
 (HPO:0011993) Impaired neutrophil bactericidal activity 4076245 IBIS 3 / 7739
11
 (HPO:0003568) Decreased glucosephosphate isomerase activity 1 / 7739
12
 (HPO:0001324) Muscle weakness 859 / 7739
13
 (OMIM) Reduced leukocyte superoxide anion production 1 / 7739
14
 (OMIM) Mixed sensory and cerebellar ataxia 1 / 7739
15
 (OMIM) Reduced leukocyte bactericidal activity 1 / 7739
16
 (OMIM) Normal osmotic fragility 3 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

GPI;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Blume and Beutler (1972) developed a simple screening test for GPI deficiency.
Clinical Description OMIM Baughan et al. (1968) found deficiency of erythrocyte GPI in an adolescent boy with lifelong nonspherocytic hemolytic anemia. The autohemolysis pattern conformed to Dacie type I. Both parents, a sib, and 5 other relatives showed intermediate enzyme levels. The ...
Molecular genetics OMIM In a patient with chronic hemolytic anemia associated with severe deficiency of red cell glucose phosphate isomerase, Walker et al. (1993) identified compound heterozygosity for 2 mutations in the GLI gene (172400.0001-172400.0002).

In the patient described by ...