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


Orphanet epidemiological data:

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


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


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

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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 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: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

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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
12retinitis pigmentosa10.3
14retinal degeneration10.2
16cone-rod dystrophy9.9
17embryonal rhabdomyosarcoma9.8
18butterfly-shaped pigment dystrophy9.8
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
32cone dystrophy9.6
33acrofacial dysostosis9.6
34interstitial emphysema9.6
36geographic tongue9.6
37rheumatic disease9.6
38hepatitis c9.6
41multidrug-resistant tuberculosis9.6
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 & Phenotypes for Restrictive Dermopathy, Lethal

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Restrictive Dermopathy, Lethal:

 64 (show all 65)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 hallmark (90%) HP:0000160
2 abnormality of the teeth64 hallmark (90%) HP:0000164
3 open mouth64 hallmark (90%) HP:0000194
4 abnormality of the fontanelles or cranial sutures64 hallmark (90%) HP:0000235
5 micrognathia64 hallmark (90%) HP:0000347
6 low-set, posteriorly rotated ears64 hallmark (90%) HP:0000368
7 abnormality of the eyelashes64 hallmark (90%) HP:0000499
8 limitation of joint mobility64 hallmark (90%) HP:0001376
9 respiratory insufficiency64 hallmark (90%) HP:0002093
10 short nose64 hallmark (90%) HP:0003196
11 aplasia/hypoplasia of the lungs64 hallmark (90%) HP:0006703
12 external ear malformation64 hallmark (90%) HP:0008572
13 rough bone trabeculation64 hallmark (90%) HP:0100670
14 lack of skin elasticity64 hallmark (90%) HP:0100679
15 cleft palate64 typical (50%) HP:0000175
16 abnormality of the eye64 typical (50%) HP:0000478
17 abnormality of the eyebrow64 typical (50%) HP:0000534
18 blepharophimosis64 typical (50%) HP:0000581
19 abnormality of the adrenal glands64 typical (50%) HP:0000834
20 abnormal diaphysis morphology64 typical (50%) HP:0000940
21 hyperkeratosis64 typical (50%) HP:0000962
22 polyhydramnios64 typical (50%) HP:0001561
23 atria septal defect64 typical (50%) HP:0001631
24 patent ductus arteriosus64 typical (50%) HP:0001643
25 scoliosis64 typical (50%) HP:0002650
26 kyphosis64 typical (50%) HP:0002808
27 congenital, generalized hypertrichosis64 typical (50%) HP:0004540
28 camptodactyly of finger64 typical (50%) HP:0100490
29 displacement of the external urethral meatus64 typical (50%) HP:0100627
30 situs inversus totalis64 occasional (7.5%) HP:0001696
31 dilatation of the ascending aorta64 occasional (7.5%) HP:0005111
32 hypospadias64 HP:0000047
33 ureteral duplication64 HP:0000073
34 submucous cleft hard palate64 HP:0000176
35 large fontanelles64 HP:0000239
36 hypertelorism64 HP:0000316
37 low-set ears64 HP:0000369
38 abnormality of the pinna64 HP:0000377
39 narrow nasal ridge64 HP:0000418
40 choanal atresia64 HP:0000453
41 entropion64 HP:0000621
42 sparse eyelashes64 HP:0000653
43 natal tooth64 HP:0000695
44 adrenal hypoplasia64 HP:0000835
45 short umbilical cord64 HP:0001196
46 flexion contracture64 HP:0001371
47 intrauterine growth retardation64 HP:0001511
48 decreased fetal movement64 HP:0001558
49 premature birth64 HP:0001622
50 premature rupture of membranes64 HP:0001788
51 short nail64 HP:0001799
52 rocker bottom foot64 HP:0001838
53 pulmonary hypoplasia64 HP:0002089
54 kyphoscoliosis64 HP:0002751
55 increased anterioposterior diameter of thorax64 HP:0005253
56 decreased calvarial ossification64 HP:0005474
57 overtubulated long bones64 HP:0006391
58 congenital pseudoarthrosis of the clavicle64 HP:0006585
59 thin clavicles64 HP:0006645
60 prominent superficial blood vessels64 HP:0007394
61 epidermal hyperkeratosis64 HP:0007543
62 hydropic placenta64 HP:0011414
63 short palpebral fissure64 HP:0012745
64 aplasia/hypoplasia of the eyebrow64 HP:0100840
65 skin erosion64 HP:0200041

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

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

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 Syndrome27

Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

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

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:

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

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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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet