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

About this section

Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 52 48 12
Lethal Tight Skin Contracture Syndrome 70 27 68
Hyperkeratosis-Contracture Syndrome 11 48 54
Lethal Restrictive Dermopathy 11 54 13
Tight Skin Contracture Syndrome 11 54
 
Restrictive Dermopathy 54 70
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 48
Tight Skin Contracture Syndrome, Lethal 48
Ltscs 70
Rd 70

Characteristics:

Orphanet epidemiological data:

54
hyperkeratosis-contracture syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

HPO:

64
restrictive dermopathy, lethal:
Inheritance: autosomal recessive inheritance, heterogeneous
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 275210
Disease Ontology11 DOID:0060762
ICD1030 Q82.8
Orphanet54 ORPHA1662
ICD10 via Orphanet31 Q82.8
UMLS via Orphanet69 C0406585
MedGen37 C0406585

Summaries for Restrictive Dermopathy, Lethal

About this section
UniProtKB/Swiss-Prot:70 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, lmna-related and lethal restrictive dermopathy, zmpste24-related, and has symptoms including hypospadias, ureteral duplication and narrow mouth. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways are Adipogenesis and Terpenoid backbone biosynthesis. Affiliated tissues include skin, placenta and bone, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

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.

OMIM:52 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

About this section

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)
idRelated DiseaseScoreTop Affiliating Genes
1lethal restrictive dermopathy, lmna-related12.1
2lethal restrictive dermopathy, zmpste24-related12.1
3respiratory distress syndrome in premature infants11.6
4reticular dysgenesis11.4
5respiratory distress syndrome, infant10.9
6renal hypodysplasia/aplasia 210.8
7renal hypodysplasia/aplasia 110.8
8bronchopulmonary dysplasia10.8
9refsum disease10.8
10adult respiratory distress syndrome10.8
11retinitis10.4
12retinitis pigmentosa10.2
13rhabdomyosarcoma10.2
14retinal degeneration10.2
15thymus cancer10.1LMNA, ZMPSTE24
16heart-hand syndrome, slovenian type10.1LMNA, ZMPSTE24
17ventricular tachycardia, catecholaminergic polymorphic, 110.0LMNA, ZMPSTE24
18hutchinson-gilford progeria10.0LMNA, ZMPSTE24
19tooth agenesis10.0LMNA, ZMPSTE24
20harrod syndrome10.0LMNA, ZMPSTE24
21phosphoglycerate dehydrogenase deficiency10.0LMNA, ZMPSTE24
22choroiditis10.0
23solitary bone cyst10.0KRT14, LMNA
24diffuse lipomatosis9.9LMNA, ZMPSTE24
25cone-rod dystrophy9.9
26thymus clear cell carcinoma9.9LMNA, ZMPSTE24
27embryonal rhabdomyosarcoma9.8
28butterfly-shaped pigment dystrophy9.8
29tuberculosis9.7
30retinal disease9.7
31hepatocellular carcinoma9.6
32hepatitis c virus9.6
33enhanced s-cone syndrome9.6
34epstein syndrome9.6
35rett syndrome9.6
36atherosclerosis9.6
37hepatitis9.6
38thrombocytopenia9.6
39vitelliform macular dystrophy9.6
40cone dystrophy9.6
41acrofacial dysostosis9.6
42interstitial emphysema9.6
43ecthyma9.6
44geographic tongue9.6
45rheumatic disease9.6
46squamous cell carcinoma9.6
47hepatitis c9.6
48dysostosis9.6
49oligodendroglioma9.6
50multidrug-resistant tuberculosis9.6

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



Diseases related to restrictive dermopathy, lethal

Symptoms & Phenotypes for Restrictive Dermopathy, Lethal

About this section

Symptoms by clinical synopsis from OMIM:

275210

Clinical features from OMIM:

275210

Human phenotypes related to Restrictive Dermopathy, Lethal:

 64 (show all 40)
id Description HPO Frequency HPO Source Accession
1 hypospadias64 HP:0000047
2 ureteral duplication64 HP:0000073
3 narrow mouth64 HP:0000160
4 submucous cleft hard palate64 HP:0000176
5 large fontanelles64 HP:0000239
6 hypertelorism64 HP:0000316
7 micrognathia64 HP:0000347
8 low-set ears64 HP:0000369
9 abnormality of the pinna64 HP:0000377
10 narrow nasal ridge64 HP:0000418
11 choanal atresia64 HP:0000453
12 blepharophimosis64 HP:0000581
13 entropion64 HP:0000621
14 sparse eyelashes64 HP:0000653
15 natal tooth64 HP:0000695
16 adrenal hypoplasia64 HP:0000835
17 short umbilical cord64 HP:0001196
18 flexion contracture64 HP:0001371
19 intrauterine growth retardation64 HP:0001511
20 decreased fetal movement64 HP:0001558
21 polyhydramnios64 HP:0001561
22 premature birth64 HP:0001622
23 atrial septal defect64 HP:0001631
24 patent ductus arteriosus64 HP:0001643
25 premature rupture of membranes64 HP:0001788
26 short nail64 HP:0001799
27 rocker bottom foot64 HP:0001838
28 pulmonary hypoplasia64 HP:0002089
29 kyphoscoliosis64 HP:0002751
30 increased anterioposterior diameter of thorax64 HP:0005253
31 decreased calvarial ossification64 HP:0005474
32 overtubulated long bones64 HP:0006391
33 congenital pseudoarthrosis of the clavicle64 HP:0006585
34 thin clavicles64 HP:0006645
35 prominent superficial blood vessels64 HP:0007394
36 epidermal hyperkeratosis64 HP:0007543
37 hydropic placenta64 HP:0011414
38 short palpebral fissure64 HP:0012745
39 aplasia/hypoplasia of the eyebrow64 HP:0100840
40 skin erosion64 HP:0200041

MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4AQP3, KRT14, LMNA
2MP:00053759.2DHCR24, KRT14, LMNA, ZMPSTE24
3MP:00053799.2DHCR24, KRT14, LMNA, ZMPSTE24
4MP:00107719.1DHCR24, KRT14, LMNA, ZMPSTE24
5MP:00053829.0AQP3, KRT14, LMNA, ZMPSTE24
6MP:00053819.0AQP3, KRT14, LMNA, ZMPSTE24
7MP:00053788.4AQP3, DHCR24, KRT14, LMNA, ZMPSTE24
8MP:00053768.3AQP3, DHCR24, KRT14, LMNA, ZMPSTE24
9MP:00107687.5AQP3, DHCR24, KRT14, LMNA, ZMPSTE24

Drugs & Therapeutics for Restrictive Dermopathy, Lethal

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Restrictive Dermopathy, Lethal

Genetic Tests for Restrictive Dermopathy, Lethal

About this section

Genetic tests related to Restrictive Dermopathy, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome27

Anatomical Context for Restrictive Dermopathy, Lethal

About this section

MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

36
Skin, Placenta, Bone

Publications for Restrictive Dermopathy, Lethal

About this section

Variations for Restrictive Dermopathy, Lethal

About this section

Clinvar genetic disease variations for Restrictive Dermopathy, Lethal:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ZMPSTE24NM_ 005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs)duplicationPathogenicrs281875375GRCh37Chr 1, 40758176: 40758176
2LMNANM_ 170707.3(LMNA): c.1824C> T (p.Gly608=)SNVPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3ZMPSTE24NM_ 005857.4(ZMPSTE24): c.818delA (p.Lys273Argfs)deletionPathogenicrs886044057GRCh37Chr 1, 40747063: 40747063
4ZMPSTE24NM_ 005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs)duplicationPathogenicrs281875361GRCh37Chr 1, 40723997: 40723997
5ZMPSTE24NM_ 005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs)duplicationPathogenicrs281875367GRCh37Chr 1, 40735763: 40735763
6ZMPSTE24NM_ 005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs)deletionPathogenicrs281875360GRCh37Chr 1, 40723993: 40723993
7ZMPSTE24NM_ 005857.4(ZMPSTE24): c.584_ 585delAT (p.Tyr195Phefs)deletionPathogenicrs786205123GRCh37Chr 1, 40735756: 40735757
8ZMPSTE24NM_ 005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756551
9ZMPSTE24NM_ 005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter)SNVPathogenicrs267607181GRCh37Chr 1, 40737653: 40737653
10LMNANM_ 170707.3(LMNA): c.1968+1G> ASNVPathogenicrs113436208GRCh37Chr 1, 156108549: 156108549

Expression for genes affiliated with Restrictive Dermopathy, Lethal

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

Pathways for genes affiliated with Restrictive Dermopathy, Lethal

About this section

GO Terms for genes affiliated with Restrictive Dermopathy, Lethal

About this section

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.4KRT14, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.5LMNA, ZMPSTE24
2cellular response to hypoxiaGO:00714569.5AQP3, LMNA

Sources for Restrictive Dermopathy, Lethal

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet