chromosome 1p36.33 duplication syndrome

Term ID

DOID:0070470

Synonyms

• CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT

Definition

A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. (2)

References

• OMIM:618815
• ORDO:656279
• UMLS_CUI:C5394150

Ontology

Human Disease   ( DOID:0070470 )