Restrictive Dermopathy, Lethal malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Restrictive Dermopathy, Lethal

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Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 49 11 45
Lethal Tight Skin Contracture Syndrome 67 24 65
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 45
Tight Skin Contracture Syndrome, Lethal 45
Hyperkeratosis-Contracture Syndrome 45
Restrictive Dermopathy 67
Ltscs 67
Rd 67



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


External Ids:

OMIM49 275210
MedGen34 C0406585
UMLS65 C0406585

Summaries for Restrictive Dermopathy, Lethal

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UniProtKB/Swiss-Prot:67 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 restrictive dermopathy and respiratory distress syndrome, infant, and has symptoms including lack of skin elasticity, rough bone trabeculation and external ear malformation. 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 lung, and related mouse phenotype adipose tissue.

OMIM:49 Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable... (275210) 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 50)
idRelated DiseaseScoreTop Affiliating Genes
1restrictive dermopathy11.3
2respiratory distress syndrome, infant11.0
3reticular dysgenesis10.9
4refsum disease10.9
5adult respiratory distress syndrome10.9
7retinitis pigmentosa10.4
8retinal degeneration10.3
11cone-rod dystrophy10.0
12embryonal rhabdomyosarcoma10.0
13butterfly-shaped pigment dystrophy10.0
14renal hypodysplasia/aplasia 29.9
15renal hypodysplasia/aplasia 19.9
16bronchopulmonary dysplasia9.9
17acute respiratory distress syndrome9.9
19retinal disease9.9
20hepatocellular carcinoma9.7
21hepatitis c virus9.7
22enhanced s-cone syndrome9.7
23epstein syndrome9.7
24rett syndrome9.7
28vitelliform macular dystrophy9.7
29cone dystrophy9.7
30acrofacial dysostosis9.7
31interstitial emphysema9.7
33geographic tongue9.7
34rheumatic disease9.7
35hepatitis c9.7
38multidrug-resistant tuberculosis9.7
39kidney disease9.7
41polycystic kidney disease9.7
42haemophilus influenzae9.7
43restrictive dermopathy, lethal9.7LMNA, ZMPSTE24
44sporadic fetal brain disruption sequence9.7LMNA, ZMPSTE24
45hutchinson-gilford progeria9.6LMNA, ZMPSTE24
46syringomyelia9.6LMNA, ZMPSTE24
47mandibuloacral dysplasia9.5LMNA, ZMPSTE24
48periampullary adenocarcinoma9.5LMNA, ZMPSTE24
49muscular dystrophy-dystroglycanopathy9.4LMNA, ZMPSTE24
50pancreatic serous cystadenoma9.3LMNA, 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:


Clinical features from OMIM:


HPO human phenotypes related to Restrictive Dermopathy, Lethal:

(show all 71)
id Description Frequency HPO Source Accession
1 lack of skin elasticity hallmark (90%) HP:0100679
2 rough bone trabeculation hallmark (90%) HP:0100670
3 external ear malformation hallmark (90%) HP:0008572
4 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
5 short nose hallmark (90%) HP:0003196
6 respiratory insufficiency hallmark (90%) HP:0002093
7 limitation of joint mobility hallmark (90%) HP:0001376
8 abnormality of the eyelashes hallmark (90%) HP:0000499
9 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
10 micrognathia hallmark (90%) HP:0000347
11 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
12 open mouth hallmark (90%) HP:0000194
13 abnormality of the teeth hallmark (90%) HP:0000164
14 narrow mouth hallmark (90%) HP:0000160
15 displacement of the external urethral meatus typical (50%) HP:0100627
16 camptodactyly of finger typical (50%) HP:0100490
17 congenital, generalized hypertrichosis typical (50%) HP:0004540
18 kyphosis typical (50%) HP:0002808
19 scoliosis typical (50%) HP:0002650
20 patent ductus arteriosus typical (50%) HP:0001643
21 atria septal defect typical (50%) HP:0001631
22 polyhydramnios typical (50%) HP:0001561
23 hyperkeratosis typical (50%) HP:0000962
24 abnormal diaphysis morphology typical (50%) HP:0000940
25 abnormality of the adrenal glands typical (50%) HP:0000834
26 blepharophimosis typical (50%) HP:0000581
27 abnormality of the eyebrow typical (50%) HP:0000534
28 abnormality of the eye typical (50%) HP:0000478
29 cleft palate typical (50%) HP:0000175
30 dilatation of the ascending aorta occasional (7.5%) HP:0005111
31 situs inversus totalis occasional (7.5%) HP:0001696
32 skin erosion HP:0200041
33 aplasia/hypoplasia of the eyebrow HP:0100840
34 short palpebral fissure HP:0012745
35 hydropic placenta HP:0011414
36 epidermal hyperkeratosis HP:0007543
37 prominent superficial blood vessels HP:0007394
38 thin clavicles HP:0006645
39 congenital pseudoarthrosis of the clavicle HP:0006585
40 overtubulated long bones HP:0006391
41 decreased calvarial ossification HP:0005474
42 increased anterioposterior diameter of thorax HP:0005253
43 kyphoscoliosis HP:0002751
44 pulmonary hypoplasia HP:0002089
45 rocker bottom foot HP:0001838
46 short nail HP:0001799
47 premature rupture of membranes HP:0001788
48 patent ductus arteriosus HP:0001643
49 atria septal defect HP:0001631
50 premature birth HP:0001622
51 polyhydramnios HP:0001561
52 decreased fetal movement HP:0001558
53 intrauterine growth retardation HP:0001511
54 flexion contracture HP:0001371
55 short umbilical cord HP:0001196
56 adrenal hypoplasia HP:0000835
57 natal tooth HP:0000695
58 sparse eyelashes HP:0000653
59 entropion HP:0000621
60 blepharophimosis HP:0000581
61 choanal atresia HP:0000453
62 narrow nasal ridge HP:0000418
63 abnormality of the pinna HP:0000377
64 low-set ears HP:0000369
65 micrognathia HP:0000347
66 hypertelorism HP:0000316
67 large fontanelles HP:0000239
68 submucous cleft hard palate HP:0000176
69 narrow mouth HP:0000160
70 ureteral duplication HP:0000073
71 hypospadias HP:0000047

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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Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

Skin, Bone, Lung, Adrenal gland, Prostate, B cells, Placenta

Animal Models for Restrictive Dermopathy, Lethal or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, 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:

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=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3ZMPSTE24NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs)duplicationPathogenicrs281875361GRCh37Chr 1, 40723997: 40723997
4ZMPSTE24NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs)duplicationPathogenicrs281875367GRCh37Chr 1, 40735763: 40735763
5ZMPSTE24NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs)deletionPathogenicrs281875360GRCh37Chr 1, 40723993: 40723993
6ZMPSTE24NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs)deletionPathogenicrs786205123GRCh37Chr 1, 40735756: 40735757
7ZMPSTE24NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756551
8ZMPSTE24NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter)single nucleotide variantPathogenicrs267607181GRCh37Chr 1, 40737653: 40737653
9LMNANM_170707.3(LMNA): c.1968+1G> Asingle nucleotide variantPathogenicrs113436208GRCh37Chr 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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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet