Details of Disease

General Information of Disease (ID: DISFN8TK)

Disease Name Asphyxiating thoracic dystrophy 3
Synonyms
short rib-polydactyly syndrome, type 2B; polydactyly with neonatal chondrodystrophy type III; type I short rib polydactyly syndrome; polydactyly with neonatal chondrodystrophy type 1; short rib-polydactyly syndrome type 3; short rib-polydactyly syndrome type 1; ATD3; SRTD3; polydactyly with neonatal chondrodystrophy, type 3; polydactyly with neonatal chondrodystrophy, type I; short rib-polydactyly syndrome type III; Verma-Naumoff syndrome; short rib-polydactyly syndrome, type IIB; SRPS3; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS type 3; asphyxiating thoracic dystrophy 3; short rib-polydactyly syndrome Saldino-Noonan type; Saldino-Noonan syndrome; short rib polydactyly syndrome Verma Naumoff type; asphyxiating thoracic dystrophy type 3; SRPS type 1; SRPS1; SRPS2B
Definition An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Disease Hierarchy
DISLC357: Jeune syndrome
DISFN8TK: Asphyxiating thoracic dystrophy 3
Disease Identifiers
MONDO ID
MONDO_0013127
MESH ID
D012779
UMLS CUI
C0036069
OMIM ID
613091
MedGen ID
19860
Orphanet ID
93270
SNOMED CT ID
726032008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NEK1 TTO5QT2 Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C2CD3 OTC52E7V Limited Biomarker [2]
IFT80 OTMH0MBI Strong Biomarker [3]
DYNC2H1 OTLC8K6B Definitive Autosomal recessive [4]
------------------------------------------------------------------------------------

References

1 NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.J Med Genet. 2012 Apr;49(4):227-33. doi: 10.1136/jmedgenet-2011-100717.
2 Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.
3 An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12.
4 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.