ORPHA:712

Hemolytic anemia due to glucophosphate isomerase deficiency

Synonyms: GPI deficiency · Glucose-6-phosphate isomerase deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
Status: active

A rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hemolytic anemia due to glucophosphate isomerase deficiency	GPI deficiency · Glucose-6-phosphate isomerase deficiency
fr	Anémie hémolytique par déficit en phosphoglucose isomérase	Déficit en Clucose-6-phosphate isomerase · Déficit en GPI
de	Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel	GPI-Defizienz · Glukose-6-Phosphat-Isomerase-Mangel
es	Anemia hemolítica por deficiencia de glucosa fosfato isomerasa	Deficiencia de GPI · Deficiencia de glucosa-6-fosfato isomerasa
it	Anemia emolitica da deficit di glucosio-fosfato isomerasi	Deficit di GPI · Deficit di glucosio-6-fosfati isomerasi
nl	Hemolytische anemie door deficiëntie van glucofosfaatisomerase	Deficiëntie van glucose-6-fosfaatisomerase · GPI-deficiëntie
pt	Anemia hemolítica por deficiência de glucose-fosfato isomerase
pl	Niedokrwistość hemolityczna z powodu niedoboru izomerazy glukofosforanowej	= en
cs	Hemolytická anémie způsobená deficitem glukózafosfátizomerázy	= en
uk	Гемолітична анемія внаслідок дефіциту глюкофосфат-ізомерази
zh	磷酸葡萄糖异构酶缺乏所致溶血性贫血
tr	Glukofosfat izomeraz eksikliğine bağlı hemolitik anemi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613470	E		validated
ICD-10	D55.2	NTBT	attributed	validated
ICD-11	3A10.Y	NTBT	index	validated
MONDO	0013275	E		validated
UMLS	C0272064	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (2):

ORPHA:308459Disorder of glycolysis
rare inborn errors of metabolism; rare genetic diseases
ORPHA:98372Hemolytic anemia due to a disorder of glycolytic enzymes
rare genetic diseases; rare hematological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GPI	Disease-causing germline mutation(s) in	Assessed	HGNC:4458	ENSG00000105220	172400	19q13.11	glucose-6-phosphate isomerase	9446754[PMID]_22782259[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		50 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

13 annotations · validated 2025-05-19

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0003568	Decreased glucosephosphate isomerase level
HP:0002240	Hepatomegaly
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0000952	Jaundice
HP:0001930	Nonspherocytic hemolytic anemia
HP:0001923	Reticulocytosis
HP:0001744	Splenomegaly
HP:0008282	Unconjugated hyperbilirubinemia
Occasional (29-5%)
HP:0001082	Cholecystitis
HP:0001789	Hydrops fetalis
HP:0001249	Intellectual disability
HP:0011981	Pigment gallstones
HP:0004447	Poikilocytosis

Annotation source: 38106292[PMID]_30585945[PMID]_30585945[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/712
This record as JSON: /data/d/712.json