Details of Disease

General Information of Disease (ID: DISOV2MU)

Disease Name Seckel syndrome 2
Synonyms microcephalic primordial dwarfism 2; Seckel syndrome caused by mutation in RBBP8; Seckel-type dwarfism 2; SCKL2; RBBP8 Seckel syndrome; Seckel syndrome 2; Seckel syndrome type 2
Definition Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DISEVUBA: Seckel syndrome
DISOV2MU: Seckel syndrome 2
Disease Identifiers
MONDO ID
MONDO_0011715
MESH ID
C537534
UMLS CUI
C1847572
OMIM ID
606744
MedGen ID
338264

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
RBBP8 OTRHJ3GI Moderate Autosomal recessive [1]
PCNT OTW4Z65J Definitive Biomarker [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.