Details of Disease

General Information of Disease (ID: DISYLVKM)

Disease Name Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
Synonyms
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; Phrinl Syndrome; Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive; PHRINL; fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome; fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISYLVKM: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal
Disease Identifiers
MONDO ID
MONDO_0032931
UMLS CUI
C5394137
OMIM ID
618810
MedGen ID
1716458
Orphanet ID
615954

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATAD3C OTPE3WHG Limited Unknown [1]
ATAD3A OTWF6HBP Strong Autosomal recessive [1]
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References

1 ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.