ODCs

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Triose phosphate-isomerase deficiency

1 OMIM reference -
1 associated gene
33 connected diseases
9 signs/symptoms

Disease	Type of connection
Giant cell glioblastoma
Gliosarcoma
Leber congenital amaurosis
Senior-Loken syndrome
17q11 microdeletion syndrome
Amyotrophic lateral sclerosis
B-cell chronic lymphocytic leukemia
Dedifferentiated liposarcoma
Familial melanoma
Familial pancreatic carcinoma
Frontotemporal dementia with motor neuron disease
Huntington disease
Juvenile Huntington disease
LIG4 syndrome
Leigh syndrome with leukodystrophy
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Omenn syndrome
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Weaver syndrome
Well-differentiated liposarcoma
Early-onset autosomal dominant Alzheimer disease
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Familial isolated dilated cardiomyopathy
Hemolytic anemia due to glucophosphate isomerase deficiency

Synonym(s): (no synonyms)

Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease - Rare neurologic disease		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
TPI1	P60174	190450

Very frequent

- Autosomal recessive inheritance
- Functional anomalies of the nervous system
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Frequent

- Diaphragmatic hernia / defect / agenesis
- Stillbirth / neonatal death

Occasional

- Cardiomyopathy / hypertrophic / dilated
- Nerve conduction abnormality