Details of Disease

General Information of Disease (ID: DIS0AZCT)

• Disease Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• Synonyms: Joubert syndrome with JATD; JBTS with JATD
• Definition: Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
• Disease Hierarchy:
  DISY2RES: Short rib-polydactyly syndrome
  DIS04FVG: Joubert syndrome and related disorders
  DIS0AZCT: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0018342
  UMLS CUI: C4518774
  MedGen ID: 1371401
  Orphanet ID: 397715
  SNOMED CT ID: 733418003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSPP1	OTNX7GD4	Supportive	Autosomal recessive	[1]
KIAA0586	OTOZRC1U	Supportive	Autosomal recessive	[2]

References

• [1] Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014 Jan 2;94(1):62-72. doi: 10.1016/j.ajhg.2013.11.019. Epub 2013 Dec 19.
• [2] Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.