Details of Disease

General Information of Disease (ID: DISPHFU3)

• Disease Name: TMEM165-congenital disorder of glycosylation
• Synonyms: CDG IIk; TMEM165-CDG (CDG-IIk); congenital disorder of glycosylation, type IIk; CDG-IIk; congenital disorder of glycosylation type 2k; congenital disorder of glycosylation type IIk; TMEM165-congenital disorder of glycosylation; CDG2K; TMEM165-CDG; carbohydrate deficient glycoprotein syndrome type IIk; CDG syndrome type IIk
• Definition: TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
• Disease Hierarchy:
  DIS1JG9A: Spondyloepiphyseal dysplasia
  DISEMWE1: Congenital disorder of glycosylation type II
  DIST8BQR: Disorder of protein N-glycosylation
  DISPHFU3: TMEM165-congenital disorder of glycosylation
• Disease Identifiers:
  MONDO ID: MONDO_0013870
  UMLS CUI: C3553571
  OMIM ID: 614727
  MedGen ID: 766485
  Orphanet ID: 314667
  SNOMED CT ID: 732252005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMEM165	OTMVJ0GA	Definitive	Autosomal recessive	[1]

References

• [1] TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7.