Details of Disease

General Information of Disease (ID: DIS2IBA1)

Disease Name Restrictive dermopathy
Synonyms hyperkeratosis-contracture syndrome; lethal tight skin-contracture syndrome; lethal restrictive dermopathy; tight skin contracture syndrome; lethal hyperkeratosis-contracture syndrome
Definition
A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS2IBA1: Restrictive dermopathy
Disease Identifiers
MONDO ID
MONDO_0031213
MESH ID
C536920
UMLS CUI
C0406585
MedGen ID
98356
Orphanet ID
1662
SNOMED CT ID
400128006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FST TTDNM9W Strong Biomarker [1]
SLC27A4 TT20AYF Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LMNA OT3SG7ZR Limited Biomarker [3]
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References

1 Multiple defects and perinatal death in mice deficient in follistatin.Nature. 1995 Mar 23;374(6520):360-3. doi: 10.1038/374360a0.
2 Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5274-9. doi: 10.1073/pnas.0431186100. Epub 2003 Apr 15.
3 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.