Lethal Restrictive Dermopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060762

MeSH ⁴³ C536920

SNOMED-CT ⁶⁸ 400128006

UMLS ⁷¹ C0406585

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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

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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:

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Symptoms & Phenotypes for Lethal Restrictive Dermopathy

MGI Mouse Phenotypes related to Lethal Restrictive Dermopathy:

⁴⁵

#	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

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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

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Genetic Tests for Lethal Restrictive Dermopathy

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Anatomical Context for Lethal Restrictive Dermopathy

Organs/tissues related to Lethal Restrictive Dermopathy:

MalaCards : Skin

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Publications for Lethal Restrictive Dermopathy

Articles related to Lethal Restrictive Dermopathy:

#	Title	Authors	PMID	Year
1	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	Schaflinger E...Windpassinger C	35597529	2022
2	Lethal Restrictive Dermopathy with ZMPSTE24 Mutation. ⁶²	Pradeep I...Shanmugasundaram L	34961372	2022
3	A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan. ⁶²	Hou JW	25260550	2015
4	Increased expression of aquaporin-3 in the epidermis of DHCR24 knockout mice. ⁶²	Mirza R...Seo H	18241265	2008
5	Disturbed epidermal structure in mice with temporally controlled fatp4 deficiency. ⁶²	Herrmann T...Stremmel W	16354193	2005
6	Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. ⁶²	Navarro CL...Levy N	15317753	2004
7	Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. ⁶²	Herrmann T...Stremmel W	12821645	2003

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Genes for Lethal Restrictive Dermopathy

Genes related to Lethal Restrictive Dermopathy (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ZMPSTE24	Zinc Metallopeptidase STE24	Protein Coding	7.16	DISEASES inferred ¹⁴
2	SLC27A4	Solute Carrier Family 27 Member 4	Protein Coding	6.29	DISEASES inferred ¹⁴
3	SLC27A1	Solute Carrier Family 27 Member 1	Protein Coding	5.78	DISEASES inferred ¹⁴
4	SLC27A6	Solute Carrier Family 27 Member 6	Protein Coding	5.71	DISEASES inferred ¹⁴
5	RMND1	Required For Meiotic Nuclear Division 1 Homolog	Protein Coding	5.64	DISEASES inferred ¹⁴
6	OTOG	Otogelin	Protein Coding	5.64	DISEASES inferred ¹⁴
7	LMNA	Lamin A/C	Protein Coding	5.52	DISEASES inferred ¹⁴
8	IQGAP2	IQ Motif Containing GTPase Activating Protein 2	Protein Coding	5.06	DISEASES inferred ¹⁴
9	IGHMBP2	Immunoglobulin Mu DNA Binding Protein 2	Protein Coding	5.01	DISEASES inferred ¹⁴
10	DHCR24	24-Dehydrocholesterol Reductase	Protein Coding	4.95	DISEASES inferred ¹⁴

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Variations for Lethal Restrictive Dermopathy

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Expression for Lethal Restrictive Dermopathy

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

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Pathways for Lethal Restrictive Dermopathy

Pathways related to Lethal Restrictive Dermopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of vitamins, nucleosides, and related molecules ⁶⁶ Show member pathways Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) ⁶⁶ Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) ⁶⁶ Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) ⁶⁶ Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2) ⁶⁶ Transport of fatty acids ⁶⁶ Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane ⁶⁶ Transport of nucleotide sugars ⁶⁶ Transport of organic anions ⁶⁶ Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization ⁶⁶	11.09	SLC27A6 SLC27A4 SLC27A1
2	Nephrotic syndrome ⁷⁴	11	ZMPSTE24 LMNA
3	PPAR signaling pathway ⁷⁴ Show member pathways FABP4 in ovarian cancer ⁷⁴ Fatty acid transporters ⁷⁴	10.74	SLC27A6 SLC27A4 SLC27A1
4	Familial partial lipodystrophy ⁷⁴	10.67	ZMPSTE24 LMNA
5	Progeria-associated lipodystrophy ⁷⁴ Show member pathways Lamin A-processing pathway ⁷⁴	10.5	ZMPSTE24 LMNA

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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

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Sources for Lethal Restrictive Dermopathy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LTH053 MIFTS: 25	Lethal Restrictive Dermopathy Categories: Genetic diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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