ORPHA:656279

1p36.33 duplication syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618815	E		validated
ICD-10	Q92.3	NTBT	attributed	validated
ICD-11	LD41.01	NTBT	attributed	validated
MONDO	0032933	E		validated
MONDO	32933	E		validated
UMLS	C5925104	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (4):

ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
ORPHA:264431Partial duplication of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases

No children.

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ATAD3A	Role in the phenotype of	Assessed	HGNC:25567	ENSG00000197785	612316	1p36.33	ATPase family AAA domain containing 3A	32004445[PMID]
ATAD3B	Role in the phenotype of	Assessed	HGNC:24007	ENSG00000160072	612317	1p36.33	ATPase family AAA domain containing 3B	32004445[PMID]
ATAD3C	Role in the phenotype of	Assessed	HGNC:32151	ENSG00000215915	617227	1p36.33	ATPase family AAA domain containing 3C	32004445[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.