Details of Disease

General Information of Disease (ID: DISITZBA)

• Disease Name: Greenberg dysplasia
• Synonyms: moth-eaten skeletal dysplasia; hem; autosomal recessive lethal chondrodystrophy with congenital hydrops; hem/Greenberg dysplasia; hydrops, ectopic calcification, moth-eaten skeletal dysplasia; Greenberg skeletal dysplasia; GRBGD; chondrodystrophy, hydropic and prenatally lethal type; hydrops-ectopic calcification-moth-eaten skeletal dysplasia; hem skeletal dysplasia; hydrops-ectopic calcification-motheaten syndrome; skeletal dysplasia, Greenberg type; Greenberg dysplasia; hem dysplasia
• Definition: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
• Disease Hierarchy:
  DISERVGO: Chondrodysplasia punctata
  DISFPEQA: Laminopathy
  DIS91IFI: Sterol biosynthesis disorder
  DISITZBA: Greenberg dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0008974
  MESH ID: C535858
  UMLS CUI: C2931048
  OMIM ID: 215140
  MedGen ID: 418969
  Orphanet ID: 1426
  SNOMED CT ID: 389261002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FDFT1	TTFQEO5	Strong	Biomarker	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LBR	OT1HG3HG	Definitive	Autosomal recessive	[2]

References

• [1] Genetic disorders of cholesterol biosynthesis in mice and humans.Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.
• [2] Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet. 2003 Apr;72(4):1013-7. doi: 10.1086/373938. Epub 2003 Feb 28.