OBO ID: DOID:0060762
Term Name: lethal restrictive dermopathy Search Ontology:
Synonyms:
  • hyperkeratosis-contracture syndrome
  • tight skin contracture syndrome
Definition: A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (2)
References:
Ontology: Human Disease   (DOID:0060762)
Relationships
is a type of:
OTHER lethal restrictive dermopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMNA Restrictive dermopathy, lethal 275210
ZMPSTE24 Restrictive dermopathy, lethal 275210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.