LTSCS
MCID: RST011
MIFTS: 41

Restrictive Dermopathy, Lethal (LTSCS) malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Restrictive Dermopathy, Lethal

Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 54 50 13
Lethal Tight Skin Contracture Syndrome 66 29 69
Hyperkeratosis-Contracture Syndrome 12 50 56
Lethal Restrictive Dermopathy 12 56 14
Tight Skin Contracture Syndrome 12 56
Restrictive Dermopathy 56 66
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 50
Tight Skin Contracture Syndrome, Lethal 50
Ltscs 66
Rd 66

Characteristics:

Orphanet epidemiological data:

56
restrictive dermopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

HPO:

32
restrictive dermopathy, lethal:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 275210
Disease Ontology 12 DOID:0060762
ICD10 33 Q82.8
Orphanet 56 ORPHA1662
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 70 C0406585
MedGen 40 C0406585
UMLS 69 C0406585

Summaries for Restrictive Dermopathy, Lethal

UniProtKB/Swiss-Prot : 66 Lethal tight skin contracture syndrome: Rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance.

MalaCards based summary : Restrictive Dermopathy, Lethal, also known as lethal tight skin contracture syndrome, is related to lethal restrictive dermopathy, zmpste24-related and lethal restrictive dermopathy, lmna-related, and has symptoms including hypertelorism, low-set ears and flexion contracture. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Adipogenesis and Terpenoid backbone biosynthesis. Affiliated tissues include skin, bone and placenta, and related phenotypes are adipose tissue and craniofacial

Disease Ontology : 12 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.

OMIM : 54 Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable... (275210) more...

Wikipedia : 71 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal... more...

Related Diseases for Restrictive Dermopathy, Lethal

Diseases in the Restrictive Dermopathy, Lethal family:

Lethal Restrictive Dermopathy, Lmna-Related Lethal Restrictive Dermopathy, Zmpste24-Related

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

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 lethal restrictive dermopathy, zmpste24-related 12.1
2 lethal restrictive dermopathy, lmna-related 12.1
3 respiratory distress syndrome in premature infants 11.6
4 reticular dysgenesis 11.4
5 respiratory distress syndrome, infant 10.9
6 bronchopulmonary dysplasia 10.8
7 renal hypodysplasia/aplasia 2 10.8
8 renal hypodysplasia/aplasia 1 10.8
9 adult respiratory distress syndrome 10.8
10 refsum disease 10.8
11 retinitis 10.4
12 retinitis pigmentosa 10.2
13 rhabdomyosarcoma 10.2
14 retinal degeneration 10.2
15 thymus cancer 10.1 LMNA ZMPSTE24
16 heart-hand syndrome, slovenian type 10.1 LMNA ZMPSTE24
17 ventricular tachycardia, catecholaminergic polymorphic, 1 10.0 LMNA ZMPSTE24
18 hutchinson-gilford progeria 10.0 LMNA ZMPSTE24
19 tooth agenesis 10.0 LMNA ZMPSTE24
20 harrod syndrome 10.0 LMNA ZMPSTE24
21 phosphoglycerate dehydrogenase deficiency 10.0 LMNA ZMPSTE24
22 choroiditis 10.0
23 solitary bone cyst 10.0 KRT14 LMNA
24 diffuse lipomatosis 9.9 LMNA ZMPSTE24
25 cone-rod dystrophy 9.9
26 thymus clear cell carcinoma 9.9 LMNA ZMPSTE24
27 butterfly-shaped pigment dystrophy 9.8
28 embryonal rhabdomyosarcoma 9.8
29 tuberculosis 9.7
30 retinal disease 9.7
31 hepatitis c 9.6
32 dysostosis 9.6
33 atherosclerosis 9.6
34 oligodendroglioma 9.6
35 hepatitis 9.6
36 thrombocytopenia 9.6
37 hepatocellular carcinoma 9.6
38 vitelliform macular dystrophy 9.6
39 multidrug-resistant tuberculosis 9.6
40 hepatitis c virus 9.6
41 cone dystrophy 9.6
42 kidney disease 9.6
43 acrofacial dysostosis 9.6
44 interstitial emphysema 9.6
45 influenza 9.6
46 enhanced s-cone syndrome 9.6
47 ecthyma 9.6
48 polycystic kidney disease 9.6
49 epstein syndrome 9.6
50 geographic tongue 9.6

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



Diseases related to Restrictive Dermopathy, Lethal

Symptoms & Phenotypes for Restrictive Dermopathy, Lethal

Symptoms by clinical synopsis from OMIM:

275210

Clinical features from OMIM:

275210

Human phenotypes related to Restrictive Dermopathy, Lethal:

32 (show all 40)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 flexion contracture 32 HP:0001371
4 micrognathia 32 HP:0000347
5 patent ductus arteriosus 32 HP:0001643
6 abnormality of the pinna 32 HP:0000377
7 intrauterine growth retardation 32 HP:0001511
8 hypospadias 32 HP:0000047
9 narrow mouth 32 HP:0000160
10 polyhydramnios 32 HP:0001561
11 choanal atresia 32 HP:0000453
12 blepharophimosis 32 HP:0000581
13 large fontanelles 32 HP:0000239
14 aplasia/hypoplasia of the eyebrow 32 HP:0100840
15 decreased fetal movement 32 HP:0001558
16 ureteral duplication 32 HP:0000073
17 premature birth 32 HP:0001622
18 kyphoscoliosis 32 HP:0002751
19 decreased calvarial ossification 32 HP:0005474
20 adrenal hypoplasia 32 HP:0000835
21 rocker bottom foot 32 HP:0001838
22 submucous cleft hard palate 32 HP:0000176
23 skin erosion 32 HP:0200041
24 pulmonary hypoplasia 32 HP:0002089
25 sparse eyelashes 32 HP:0000653
26 short palpebral fissure 32 HP:0012745
27 short nail 32 HP:0001799
28 natal tooth 32 HP:0000695
29 congenital pseudoarthrosis of the clavicle 32 HP:0006585
30 entropion 32 HP:0000621
31 atrial septal defect 32 HP:0001631
32 narrow nasal ridge 32 HP:0000418
33 epidermal hyperkeratosis 32 HP:0007543
34 short umbilical cord 32 HP:0001196
35 thin clavicles 32 HP:0006645
36 prominent superficial blood vessels 32 HP:0007394
37 premature rupture of membranes 32 HP:0001788
38 increased anterioposterior diameter of thorax 32 HP:0005253
39 overtubulated long bones 32 HP:0006391
40 hydropic placenta 32 HP:0011414

MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.76 DHCR24 KRT14 LMNA ZMPSTE24
2 craniofacial MP:0005382 9.73 LMNA ZMPSTE24 AQP3 KRT14
3 growth/size/body region MP:0005378 9.72 AQP3 DHCR24 KRT14 LMNA ZMPSTE24
4 digestive/alimentary MP:0005381 9.71 AQP3 KRT14 LMNA ZMPSTE24
5 endocrine/exocrine gland MP:0005379 9.67 DHCR24 KRT14 LMNA ZMPSTE24
6 homeostasis/metabolism MP:0005376 9.55 AQP3 DHCR24 KRT14 LMNA ZMPSTE24
7 hearing/vestibular/ear MP:0005377 9.43 AQP3 KRT14 LMNA
8 integument MP:0010771 9.26 DHCR24 KRT14 LMNA ZMPSTE24
9 mortality/aging MP:0010768 9.02 KRT14 LMNA ZMPSTE24 AQP3 DHCR24

Drugs & Therapeutics for Restrictive Dermopathy, Lethal

Search Clinical Trials , NIH Clinical Center for Restrictive Dermopathy, Lethal

Genetic Tests for Restrictive Dermopathy, Lethal

Genetic tests related to Restrictive Dermopathy, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome 29

Anatomical Context for Restrictive Dermopathy, Lethal

MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

39
Skin, Bone, Placenta

Publications for Restrictive Dermopathy, Lethal

Variations for Restrictive Dermopathy, Lethal

ClinVar genetic disease variations for Restrictive Dermopathy, Lethal:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs) duplication Pathogenic rs137854889 GRCh37 Chromosome 1, 40756551: 40756551
2 ZMPSTE24 NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter) single nucleotide variant Pathogenic rs267607181 GRCh37 Chromosome 1, 40737653: 40737653
3 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
4 ZMPSTE24 NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs) duplication Pathogenic rs281875361 GRCh37 Chromosome 1, 40723997: 40723997
5 ZMPSTE24 NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs) duplication Pathogenic rs281875367 GRCh37 Chromosome 1, 40735763: 40735763
6 ZMPSTE24 NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs) deletion Pathogenic rs281875360 GRCh37 Chromosome 1, 40723993: 40723993
7 ZMPSTE24 NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs) deletion Pathogenic rs786205123 GRCh37 Chromosome 1, 40735756: 40735757
8 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
9 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh37 Chromosome 1, 40758176: 40758176
10 ZMPSTE24 NM_005857.4(ZMPSTE24): c.818delA (p.Lys273Argfs) deletion Pathogenic rs886044057 GRCh37 Chromosome 1, 40747063: 40747063

Expression for Restrictive Dermopathy, Lethal

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

Pathways for Restrictive Dermopathy, Lethal

GO Terms for Restrictive Dermopathy, Lethal

Cellular components related to Restrictive Dermopathy, Lethal according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.62 KRT14 LMNA

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

id Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 8.96 AQP3 LMNA
2 nuclear envelope organization GO:0006998 8.62 LMNA ZMPSTE24

Sources for Restrictive Dermopathy, Lethal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....