Details of Disease

General Information of Disease (ID: DISU7SPS)

Disease Name Short-rib thoracic dysplasia 9 with or without polydactyly
Synonyms
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia; renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia; SRTD9; short-rib thoracic dysplasia 9 with or without polydactyly; Saldino-Mainzer syndrome; Mainzer Saldino syndrome; Mainzer-Saldino syndrome; renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome; Conorenal syndrome
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Disease Hierarchy
DISKDRMB: IFT140-related recessive ciliopathy
DISMZUIT: Acromelic dysplasia
DISLC357: Jeune syndrome
DISU7SPS: Short-rib thoracic dysplasia 9 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0009964
MESH ID
C535463
UMLS CUI
C1849437
OMIM ID
266920
MedGen ID
341455
Orphanet ID
140969
SNOMED CT ID
254092004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DYNC2H1 OTLC8K6B Strong Biomarker [1]
IFT140 OT6KO5FH Definitive Autosomal recessive [2]
IFT172 OT12DW08 Definitive Autosomal recessive [1]
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References

1 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.
2 Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.