MCID: RST011
MIFTS: 38

Restrictive Dermopathy, Lethal malady

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

Aliases & Classifications for Restrictive Dermopathy, Lethal

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Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 51 47 12
Lethal Tight Skin Contracture Syndrome 69 26 67
Hyperkeratosis-Contracture Syndrome 11 47 53
Tight Skin Contracture Syndrome 11 53
Lethal Restrictive Dermopathy 11 53
 
Restrictive Dermopathy 53 69
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 47
Tight Skin Contracture Syndrome, Lethal 47
Ltscs 69
Rd 69

Characteristics:

Orphanet epidemiological data:

53
hyperkeratosis-contracture syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

HPO:

63
restrictive dermopathy, lethal:
Inheritance: autosomal recessive inheritance, heterogeneous
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM51 275210
Disease Ontology11 DOID:0060762
ICD1029 Q82.8
Orphanet53 ORPHA1662
ICD10 via Orphanet30 Q82.8
UMLS via Orphanet68 C0406585
MedGen36 C0406585

Summaries for Restrictive Dermopathy, Lethal

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UniProtKB/Swiss-Prot:69 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 narrow mouth, abnormality of the teeth and open mouth. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways is Adipogenesis. Affiliated tissues include skin, bone and placenta, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

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

Wikipedia:70 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by abnormal... more...

Related Diseases for Restrictive Dermopathy, Lethal

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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 all 46)
idRelated DiseaseScoreTop Affiliating Genes
1lethal restrictive dermopathy, lmna-related12.1
2lethal restrictive dermopathy, zmpste24-related12.1
3respiratory distress syndrome in premature infants11.6
4reticular dysgenesis11.5
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 pigmentosa10.3
13rhabdomyosarcoma10.2
14retinal degeneration10.2
15choroiditis10.0
16cone-rod dystrophy9.9
17embryonal rhabdomyosarcoma9.8
18butterfly-shaped pigment dystrophy9.8
19tuberculosis9.7
20retinal disease9.7
21proliferative type fibrocystic change of breast9.7LMNA, ZMPSTE24
22reynolds syndrome9.6LMNA, ZMPSTE24
23hutchinson-gilford progeria9.6LMNA, ZMPSTE24
24hepatocellular carcinoma9.6
25hepatitis c virus9.6
26enhanced s-cone syndrome9.6
27epstein syndrome9.6
28rett syndrome9.6
29atherosclerosis9.6
30hepatitis9.6
31thrombocytopenia9.6
32cone dystrophy9.6
33acrofacial dysostosis9.6
34interstitial emphysema9.6
35ecthyma9.6
36geographic tongue9.6
37rheumatic disease9.6
38hepatitis c9.6
39dysostosis9.6
40oligodendroglioma9.6
41multidrug-resistant tuberculosis9.6
42influenza9.6
43haemophilus influenzae9.6
44mandibuloacral dysplasia9.5LMNA, ZMPSTE24
45pancreatic cystadenoma9.5LMNA, ZMPSTE24
46neuronitis9.3LMNA, ZMPSTE24

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



Diseases related to restrictive dermopathy, lethal

Symptoms for Restrictive Dermopathy, Lethal

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Symptoms by clinical synopsis from OMIM:

275210

Clinical features from OMIM:

275210

Human phenotypes related to Restrictive Dermopathy, Lethal:

 63 (show all 65)
id Description HPO Frequency HPO Source Accession
1 narrow mouth63 hallmark (90%) HP:0000160
2 abnormality of the teeth63 hallmark (90%) HP:0000164
3 open mouth63 hallmark (90%) HP:0000194
4 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
5 micrognathia63 hallmark (90%) HP:0000347
6 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
7 abnormality of the eyelashes63 hallmark (90%) HP:0000499
8 limitation of joint mobility63 hallmark (90%) HP:0001376
9 respiratory insufficiency63 hallmark (90%) HP:0002093
10 short nose63 hallmark (90%) HP:0003196
11 aplasia/hypoplasia of the lungs63 hallmark (90%) HP:0006703
12 external ear malformation63 hallmark (90%) HP:0008572
13 rough bone trabeculation63 hallmark (90%) HP:0100670
14 lack of skin elasticity63 hallmark (90%) HP:0100679
15 cleft palate63 typical (50%) HP:0000175
16 abnormality of the eye63 typical (50%) HP:0000478
17 abnormality of the eyebrow63 typical (50%) HP:0000534
18 blepharophimosis63 typical (50%) HP:0000581
19 abnormality of the adrenal glands63 typical (50%) HP:0000834
20 abnormal diaphysis morphology63 typical (50%) HP:0000940
21 hyperkeratosis63 typical (50%) HP:0000962
22 polyhydramnios63 typical (50%) HP:0001561
23 atria septal defect63 typical (50%) HP:0001631
24 patent ductus arteriosus63 typical (50%) HP:0001643
25 scoliosis63 typical (50%) HP:0002650
26 kyphosis63 typical (50%) HP:0002808
27 congenital, generalized hypertrichosis63 typical (50%) HP:0004540
28 camptodactyly of finger63 typical (50%) HP:0100490
29 displacement of the external urethral meatus63 typical (50%) HP:0100627
30 situs inversus totalis63 occasional (7.5%) HP:0001696
31 dilatation of the ascending aorta63 occasional (7.5%) HP:0005111
32 hypospadias63 HP:0000047
33 ureteral duplication63 HP:0000073
34 submucous cleft hard palate63 HP:0000176
35 large fontanelles63 HP:0000239
36 hypertelorism63 HP:0000316
37 low-set ears63 HP:0000369
38 abnormality of the pinna63 HP:0000377
39 narrow nasal ridge63 HP:0000418
40 choanal atresia63 HP:0000453
41 entropion63 HP:0000621
42 sparse eyelashes63 HP:0000653
43 natal tooth63 HP:0000695
44 adrenal hypoplasia63 HP:0000835
45 short umbilical cord63 HP:0001196
46 flexion contracture63 HP:0001371
47 intrauterine growth retardation63 HP:0001511
48 decreased fetal movement63 HP:0001558
49 premature birth63 HP:0001622
50 premature rupture of membranes63 HP:0001788
51 short nail63 HP:0001799
52 rocker bottom foot63 HP:0001838
53 pulmonary hypoplasia63 HP:0002089
54 kyphoscoliosis63 HP:0002751
55 increased anterioposterior diameter of thorax63 HP:0005253
56 decreased calvarial ossification63 HP:0005474
57 overtubulated long bones63 HP:0006391
58 congenital pseudoarthrosis of the clavicle63 HP:0006585
59 thin clavicles63 HP:0006645
60 prominent superficial blood vessels63 HP:0007394
61 epidermal hyperkeratosis63 HP:0007543
62 hydropic placenta63 HP:0011414
63 short palpebral fissure63 HP:0012745
64 aplasia/hypoplasia of the eyebrow63 HP:0100840
65 skin erosion63 HP:0200041

Drugs & Therapeutics for Restrictive Dermopathy, Lethal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Restrictive Dermopathy, Lethal

Genetic Tests for Restrictive Dermopathy, Lethal

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Genetic tests related to Restrictive Dermopathy, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome26

Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

35
Skin, Bone, Placenta, Lung, Eye, Adrenal gland

Animal Models for Restrictive Dermopathy, Lethal or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.8LMNA, ZMPSTE24
2MP:00053719.1LMNA, ZMPSTE24

Publications for Restrictive Dermopathy, Lethal

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Variations for Restrictive Dermopathy, Lethal

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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

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

Pathways for genes affiliated with Restrictive Dermopathy, Lethal

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

idSuper pathwaysScoreTop Affiliating Genes
19.1LMNA, ZMPSTE24

GO Terms for genes affiliated with Restrictive Dermopathy, Lethal

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

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.1LMNA, ZMPSTE24

Sources for Restrictive Dermopathy, Lethal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet