Details of Disease

General Information of Disease (ID: DISEN8P1)

Disease Name Short-rib thoracic dysplasia 6 with or without polydactyly
Synonyms
short rib-polydactyly syndrome, type 2A; Srps, type 2; short rib-polydactyly syndrome, type 2; polydactyly with neonatal chondrodystrophy, type 2; short rib-polydactyly syndrome type II; Majewski syndrome; SRTD6; SRPS2A; polydactyly with neonatal chondrodystrophy type II; short rib-polydactyly syndrome type IIA; polydactyly with neonatal chondrodystrophy, type II; short-rib thoracic dysplasia 6 with or without polydactyly
Definition
A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
Disease Hierarchy
DIS0GCAA: Short rib-polydactyly syndrome, Majewski type
DISLC357: Jeune syndrome
DISEN8P1: Short-rib thoracic dysplasia 6 with or without polydactyly
Disease Identifiers
MONDO ID
MONDO_0009894
MESH ID
D012779
UMLS CUI
C0024507
OMIM ID
263520
MedGen ID
44252
SNOMED CT ID
72922008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NEK1 TTO5QT2 Limited Genetic Variation [1]
NEK1 TTO5QT2 Definitive Autosomal recessive [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DYNC2H1 OTLC8K6B Strong Biomarker [3]
TRAF3IP1 OTLCC64B Strong GermlineCausalMutation [4]
NEK1 OTBUCUW6 Definitive Autosomal recessive [2]
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References

1 Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.Taiwan J Obstet Gynecol. 2012 Mar;51(1):100-5. doi: 10.1016/j.tjog.2012.01.020.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 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.
4 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6.