Visualize Submit Comment
Metadata
ID DOID:0070470
Name chromosome 1p36.33 duplication syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/32004445/, https://pubmed.ncbi.nlm.nih.gov/33575671/
Xrefs

MIM:618815

ORDO:656279

UMLS_CUI:C5394150
SKOS

exactMatch ORDO:656279

exactMatch UMLS_CUI:C5394150

exactMatch MIM:618815
Subsets

DO_rare_slim
Synonyms

CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a chromosomal duplication syndrome
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker