Details of Disease

General Information of Disease (ID: DISM12O0)

Disease Name Lethal osteosclerotic bone dysplasia
Synonyms
combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis; RNS; RAINE syndrome; osteomalacia, sclerosing, with cerebral calcification; lethal osteosclerotic bone dysplasia; osteosclerotic bone dysplasia, lethal; Raine syndrome
Definition Generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Disease Hierarchy
DISU0N46: Neonatal osteosclerotic dysplasia
DISM12O0: Lethal osteosclerotic bone dysplasia
Disease Identifiers
MONDO ID
MONDO_0009821
MESH ID
C535282
UMLS CUI
C1850106
OMIM ID
259775
MedGen ID
342416
Orphanet ID
1832
SNOMED CT ID
389239007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAM20C OTW5YZ7X Definitive Autosomal recessive [1]
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References

1 Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet. 2011 Aug;80(2):177-83. doi: 10.1111/j.1399-0004.2010.01516.x. Epub 2010 Jul 23.