MCID: CHR702
MIFTS: 6

Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant

Aliases & Classifications for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

MalaCards integrated aliases for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant:

Name: Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant 56
Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster 56

External Ids:

OMIM 56 618815

Summaries for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

OMIM : 56 Autosomal dominant chromosome 1p36.33 duplication syndrome is a severe multisystemic disorder characterized by neonatal respiratory insufficiency, hypotonia, and cardiomyopathy, resulting in death in the first weeks of life. Affected infants may also have seizures, contractures, and corneal opacities. Brain imaging shows variable anomalies, such as white matter changes, and laboratory studies suggest that the phenotype results from metabolic defects in mitochondrial and cholesterol homeostasis (summary by Gunning et al., 2020). (618815)

MalaCards based summary : Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant, is also known as chromosome 1p36.33 duplication syndrome, atad3 gene cluster. An important gene associated with Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant is C1DUPP36.33 (Chromosome 1p36.33 Duplication Syndrome, ATAD3 Gene Cluster). Affiliated tissues include brain.

Related Diseases for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Symptoms & Phenotypes for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Clinical features from OMIM:

618815

Drugs & Therapeutics for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Search Clinical Trials , NIH Clinical Center for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant

Genetic Tests for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Anatomical Context for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

MalaCards organs/tissues related to Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant:

40
Brain

Publications for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Articles related to Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant:

# Title Authors PMID Year
1
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. 56
32004445 2020

Variations for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Expression for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Search GEO for disease gene expression data for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant.

Pathways for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

GO Terms for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

Sources for Chromosome 1p36.33 Duplication Syndrome, Atad3 Gene Cluster,...

3 CDC
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10 dbSNP
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17 EFO
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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