KEGG DISEASE: Restrictive dermopathy

DISEASE: Restrictive dermopathy

Entry

H00663                      Disease

Name

Restrictive dermopathy

Supergrp

Progeroid laminopathy [DS:H02677]

Description

Restrictive dermopathy (RD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Skin disorders involving specific cutaneous structures
   Disorders of the dermis and subcutis
    Disorders of cutaneous connective tissue
     Fibromatoses and keloids
      EE6Y  Other specified fibromatous disorders of skin and soft tissue
       H00663  Restrictive dermopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00663  Restrictive dermopathy

Pathway

hsa00900

Terpenoid backbone biosynthesis

hsa04820

Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

(RSDM1) ZMPSTE24 [HSA:10269] [KO:K06013]
(RSDM2) LMNA [HSA:4000] [KO:K12641]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:19020898

Authors

Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimaraes H

Title

Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.

Journal

Eur J Pediatr 168:1007-12 (2009)
DOI:10.1007/s00431-008-0868-x

Reference

PMID:9217218

Authors

Mau U, Kendziorra H, Kaiser P, Enders H

Title

Restrictive dermopathy: report and review.

Journal

Am J Med Genet 71:179-85 (1997)
DOI:10.1002/(SICI)1096-8628(19970808)71:2<179::AID-AJMG11>3.0.CO;2-B

Reference

PMID:20635340 (ZMPSTE24)

Authors

Miner JH

Title

Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.

Journal

Am J Med Genet A 152A:2140-1; author reply 2142 (2010)
DOI:10.1002/ajmg.a.33503

Reference

PMID:15317753 (LMNA, ZMPSTE24)

Authors

Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N

Title

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

Journal

Hum Mol Genet 13:2493-503 (2004)
DOI:10.1093/hmg/ddh265

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (12)   

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