Lethal Restrictive Dermopathy

Categories: Genetic diseases, Skin diseases
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Aliases & Classifications for Lethal Restrictive Dermopathy

MalaCards integrated aliases for Lethal Restrictive Dermopathy:

Name: Lethal Restrictive Dermopathy 11 14
Tight Skin Contracture Syndrome, Lethal 43
Hyperkeratosis-Contracture Syndrome 11
Tight Skin Contracture Syndrome 11
Dermopathy, Restrictive, Lethal 38


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Disease Ontology 11 DOID:0060762
MeSH 43 C536920
SNOMED-CT 68 400128006
UMLS 71 C0406585

Summaries for Lethal Restrictive Dermopathy

Disease Ontology: 11 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.

MalaCards based summary: Lethal Restrictive Dermopathy, also known as tight skin contracture syndrome, lethal, is related to restrictive dermopathy and restrictive dermopathy 1. An important gene associated with Lethal Restrictive Dermopathy is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Transport of vitamins, nucleosides, and related molecules and Nephrotic syndrome. Affiliated tissues include skin, and related phenotypes are digestive/alimentary and behavior/neurological

Related Diseases for Lethal Restrictive Dermopathy

Diseases related to Lethal Restrictive Dermopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 restrictive dermopathy 32.3 ZMPSTE24 LMNA
2 restrictive dermopathy 1 30.3 ZMPSTE24 LMNA
3 ichthyosis prematurity syndrome 10.2 SLC27A4 SLC27A1
4 melkersson-rosenthal syndrome 10.1 SLC27A6 SLC27A1
5 mandibuloacral dysplasia with type a lipodystrophy 10.1 ZMPSTE24 LMNA
6 lipodystrophy, familial partial, type 1 10.1 ZMPSTE24 LMNA
7 acroosteolysis 10.1 ZMPSTE24 LMNA
8 reynolds syndrome 10.1 ZMPSTE24 LMNA
9 acquired generalized lipodystrophy 10.1 ZMPSTE24 LMNA
10 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.1 ZMPSTE24 LMNA
11 emery-dreifuss muscular dystrophy 10.1 ZMPSTE24 LMNA
12 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.1 ZMPSTE24 LMNA
13 combined oxidative phosphorylation deficiency 11 10.0 RMND1 OTOG
14 complete generalized lipodystrophy 10.0 ZMPSTE24 LMNA
15 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 ZMPSTE24 LMNA
16 emery-dreifuss muscular dystrophy 1, x-linked 10.0 ZMPSTE24 LMNA
17 lipodystrophy, familial partial, type 3 10.0 ZMPSTE24 LMNA
18 greenberg dysplasia 10.0 ZMPSTE24 LMNA
19 skin atrophy 10.0 ZMPSTE24 LMNA
20 cardiomyopathy, dilated, 1h 10.0 ZMPSTE24 LMNA
21 bartter syndrome, type 4a, neonatal, with sensorineural deafness 10.0 RMND1 DHCR24
22 platelet glycoprotein iv deficiency 10.0 SLC27A6 SLC27A4 SLC27A1
23 persistent fetal circulation syndrome 10.0 SLC27A6 SLC27A4 SLC27A1
24 lipodystrophy, familial partial, type 2 10.0 ZMPSTE24 LMNA
25 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 ZMPSTE24 LMNA
26 cardiomyopathy, dilated, 1a 9.9 ZMPSTE24 LMNA
27 familial partial lipodystrophy 9.9 ZMPSTE24 LMNA
28 hair disease 9.8 ZMPSTE24 LMNA
29 calcinosis 9.7 ZMPSTE24 LMNA
30 charcot-marie-tooth disease, axonal, type 2b1 9.7 ZMPSTE24 LMNA IGHMBP2

Graphical network of the top 20 diseases related to Lethal Restrictive Dermopathy:

Diseases related to Lethal Restrictive Dermopathy

Symptoms & Phenotypes for Lethal Restrictive Dermopathy

MGI Mouse Phenotypes related to Lethal Restrictive Dermopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 DHCR24 IGHMBP2 LMNA SLC27A4 ZMPSTE24
2 behavior/neurological MP:0005386 9.23 DHCR24 IGHMBP2 IQGAP2 LMNA OTOG SLC27A4

Drugs & Therapeutics for Lethal Restrictive Dermopathy

Search Clinical Trials, NIH Clinical Center for Lethal Restrictive Dermopathy

Cochrane evidence based reviews: tight skin contracture syndrome, lethal

Genetic Tests for Lethal Restrictive Dermopathy

Anatomical Context for Lethal Restrictive Dermopathy

Organs/tissues related to Lethal Restrictive Dermopathy:

MalaCards : Skin

Publications for Lethal Restrictive Dermopathy

Articles related to Lethal Restrictive Dermopathy:

# Title Authors PMID Year
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon. 62
35597529 2022
Lethal Restrictive Dermopathy with ZMPSTE24 Mutation. 62
34961372 2022
A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan. 62
25260550 2015
Increased expression of aquaporin-3 in the epidermis of DHCR24 knockout mice. 62
18241265 2008
Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency. 62
16354193 2005
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 62
15317753 2004
Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. 62
12821645 2003

Variations for Lethal Restrictive Dermopathy

Expression for Lethal Restrictive Dermopathy

Search GEO for disease gene expression data for Lethal Restrictive Dermopathy.

GO Terms for Lethal Restrictive Dermopathy

Biological processes related to Lethal Restrictive Dermopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.83 SLC27A6 SLC27A4 SLC27A1 DHCR24
2 fatty acid metabolic process GO:0006631 9.8 SLC27A6 SLC27A4 SLC27A1
3 nuclear envelope organization GO:0006998 9.78 ZMPSTE24 LMNA
4 long-chain fatty acid metabolic process GO:0001676 9.73 SLC27A6 SLC27A4 SLC27A1
5 long-chain fatty acid import into cell GO:0044539 9.71 SLC27A4 SLC27A1
6 glucose import in response to insulin stimulus GO:0044381 9.67 SLC27A1 SLC27A4
7 very long-chain fatty acid metabolic process GO:0000038 9.63 SLC27A6 SLC27A4
8 lipid transport across blood-brain barrier GO:1990379 9.62 SLC27A1 SLC27A4
9 lipid transport GO:0006869 9.61 SLC27A6 SLC27A4 SLC27A1
10 nucleus organization GO:0006997 9.51 ZMPSTE24 LMNA
11 fatty acid transport GO:0015908 9.46 SLC27A6 SLC27A4 SLC27A1
12 medium-chain fatty acid transport GO:0001579 9.26 SLC27A4 SLC27A1
13 long-chain fatty acid transport GO:0015909 9.1 SLC27A6 SLC27A4 SLC27A1

Molecular functions related to Lethal Restrictive Dermopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 long-chain fatty acid transporter activity GO:0005324 9.85 SLC27A6 SLC27A4 SLC27A1
2 long-chain fatty acid-CoA ligase activity GO:0004467 9.8 SLC27A6 SLC27A4 SLC27A1
3 arachidonate-CoA ligase activity GO:0047676 9.73 SLC27A1 SLC27A4 SLC27A6
4 oleoyl-CoA ligase activity GO:0090434 9.71 SLC27A4 SLC27A1
5 very long-chain fatty acid-CoA ligase activity GO:0031957 9.63 SLC27A6 SLC27A4 SLC27A1
6 ligase activity GO:0016874 9.61 SLC27A6 SLC27A4 SLC27A1
7 fatty acid transmembrane transporter activity GO:0015245 9.43 SLC27A6 SLC27A4 SLC27A1
8 oleate transmembrane transporter activity GO:1901480 9.1 SLC27A6 SLC27A4 SLC27A1

Sources for Lethal Restrictive Dermopathy

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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