Details of Disease

General Information of Disease (ID: DIS138YX)

• Disease Name: Mulibrey nanism
• Synonyms: pericardial constriction and Growth failure; mulibrey nanism; mulibrey dwarfism; MUL; pericardial constriction-growth failure syndrome; pericardial constriction and growth failure; muscle-liver-brain-eye nanism; Perheentupa syndrome
• Definition: A prenatal onset growth disorder with multiorgan manifestations.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS6SVEE: Syndromic disease
  DISCPWH9: Autosomal recessive disease
  DISF1HBQ: Disorder of defective peroxisome oxidative status
  DIS138YX: Mulibrey nanism
• Disease Identifiers:
  MONDO ID: MONDO_0009664
  MESH ID: D050336
  UMLS CUI: C0524582
  OMIM ID: 253250
  MedGen ID: 99347
  Orphanet ID: 2576
  SNOMED CT ID: 81604003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRIM37	TTAMCSL	Definitive	Autosomal recessive	[1]
TRIM37	TTAMCSL	Definitive	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX5	OTK4LMG7	Strong	Biomarker	[3]
TRIM37	OTP6VI99	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] Restriction of lung volumes but normal function of pulmonary tissue in mulibrey nanism.Pediatr Pulmonol. 2020 Jan;55(1):122-129. doi: 10.1002/ppul.24518. Epub 2019 Sep 9.
• [3] TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.J Cell Biol. 2017 Sep 4;216(9):2843-2858. doi: 10.1083/jcb.201611170. Epub 2017 Jul 19.