Details of Disease

General Information of Disease (ID: DIS2NNB4)

• Disease Name: Schneckenbecken dysplasia
• Synonyms: chondrodysplasia lethal neonatal with snail like pelvis; SHNKND; chondrodysplasia, lethal neonatal, with snail-like pelvis; schneckenbecken dysplasia; SLC35D1-CDG; chondrodysplasia with snail-like pelvis
• Definition: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
• Disease Hierarchy:
  DIS9SPWW: Osteochondrodysplasia
  DISV6ZCN: Severe spondylodysplastic dysplasia
  DIS400QP: Congenital disorder of glycosylation
  DIS2NNB4: Schneckenbecken dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0010013
  MESH ID: C536637
  UMLS CUI: C0432194
  OMIM ID: 269250
  MedGen ID: 98475
  Orphanet ID: 3144
  SNOMED CT ID: 254049009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35D1	DTJ5CF0	Definitive	Autosomal recessive	[1]
SLC35D1	DTJ5CF0	Definitive	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
INPPL1	OTCDAVBQ	Supportive	Autosomal recessive	[3]
SLC35D1	OTAQ6YWB	Definitive	Autosomal recessive	[1]

References

• [1] Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007 Nov;13(11):1363-7. doi: 10.1038/nm1655. Epub 2007 Oct 21.
• [2] A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.Hum Mol Genet. 2019 Nov 1;28(21):3543-3551. doi: 10.1093/hmg/ddz200.
• [3] A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22.