Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PGK1 DEFICIENCY
Glycogenosis due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Number of Symptoms 33
OrphanetNr: 713
OMIM Id: 300653
ICD-10: D55.2
UMLs: C0684324
MeSH:
MedDRA:
Snomed: 124335006

Prevalence, inheritance and age of onset:

Prevalence: 30 families [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: All ages
[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
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic neurometabolic disease with X-linked intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [HPO:probinson] 232 / 7739
2
 (HPO:0008305) Exercise-induced myoglobinuria 7 / 7739
3
 (HPO:0000572) Visual loss Rare [HPO:probinson] 272 / 7739
4
 (HPO:0000618) Blindness 124 / 7739
5
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
6
 (HPO:0000556) Retinal dystrophy Rare [HPO:probinson] 65 / 7739
7
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
8
 (HPO:0007973) Retinal dysplasia 27 / 7739
9
 (HPO:0002076) Migraine 41 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001263) Global developmental delay 50% [HPO] 853 / 7739
12
 (HPO:0000750) Delayed speech and language development 197 / 7739
13
 (HPO:0000712) Emotional lability 44 / 7739
14
 (HPO:0001251) Ataxia 413 / 7739
15
 (HPO:0001250) Seizures 1245 / 7739
16
 (HPO:0001878) Hemolytic anemia 60% [HPO:probinson] 83 / 7739
17
 (HPO:0001923) Reticulocytosis 28 / 7739
18
 (HPO:0001903) Anemia 289 / 7739
19
 (HPO:0003710) Exercise-induced muscle cramps 11 / 7739
20
 (HPO:0003546) Exercise intolerance 62 / 7739
21
 (HPO:0003201) Rhabdomyolysis 27 / 7739
22
 (HPO:0003198) Myopathy 45% [HPO:probinson] 151 / 7739
23
 (OMIM) Increased serum bilirubin 4 / 7739
24
 (OMIM) Central nervous system involvement in approximately 50% of patients 1 / 7739
25
 (OMIM) Myopathy in approximately 45% of patients 1 / 7739
26
 (MedDRA:10019476) Hemiplegic migraine 2 / 7739
27
 (OMIM) Decreased activity of phosphoglycerate kinase 1 1 / 7739
28
 (OMIM) Renal failure may occur with myoglobinuria 1 / 7739
29
 (HPO:0003812) Phenotypic variability 129 / 7739
30
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
31
 (OMIM) Myoglobinuria after exertion 1 / 7739
32
 (OMIM) Hemolytic anemia in approximately 60% of patients 1 / 7739
33
 (OMIM) [DEL]Muscle cramps with exercise 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).
Clinical Description OMIM Kraus et al. (1968) attributed lifelong anemia in a 63-year-old Caucasian woman to deficiency of red cell phosphoglycerate kinase. Although no relatives were available for study, the proband's mother and 2 of her sibs had a history of ...
Molecular genetics OMIM In a patient with chronic hemolytic anemia associated with deficiency of PGK activity, Fujii and Yoshida (1980) used peptide mapping analysis to identify an R206P substitution (311800.0002) in the PGK1 protein.

In a 27-year-old Japanese male ...