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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Sources:
50OMIM, 46NIH Rare Diseases, 12diseasecard, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 50 46 12
Lethal Tight Skin Contracture Syndrome 68 25 66
Hyperkeratosis-Contracture Syndrome 46 52
Restrictive Dermopathy 52 68
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 46
 
Tight Skin Contracture Syndrome, Lethal 46
Tight Skin Contracture Syndrome 52
Lethal Restrictive Dermopathy 52
Ltscs 68
Rd 68

Characteristics:

Orphanet epidemiological data:

52
hyperkeratosis-contracture syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

HPO:

62
restrictive dermopathy, lethal:
Inheritance: autosomal recessive inheritance, heterogeneous
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM50 275210
Orphanet52 ORPHA1662
ICD10 via Orphanet29 Q82.8
UMLS via Orphanet67 C0406585
MedGen35 C0406585

Summaries for Restrictive Dermopathy, Lethal

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UniProtKB/Swiss-Prot:68 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 respiratory distress syndrome in premature infants and lethal restrictive dermopathy, lmna-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 limbs/digits/tail and adipose tissue.

OMIM:50 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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1respiratory distress syndrome in premature infants11.4
2lethal restrictive dermopathy, lmna-related11.1
3lethal restrictive dermopathy, zmpste24-related11.1
4respiratory distress syndrome, infant11.0
5reticular dysgenesis10.9
6refsum disease10.9
7adult respiratory distress syndrome10.9
8retinitis10.6
9retinitis pigmentosa10.4
10rhabdomyosarcoma10.3
11retinal degeneration10.3
12choroiditis10.1
13cone-rod dystrophy10.0
14embryonal rhabdomyosarcoma10.0
15butterfly-shaped pigment dystrophy10.0
16renal hypodysplasia/aplasia 29.9
17renal hypodysplasia/aplasia 19.9
18bronchopulmonary dysplasia9.9
19acute respiratory distress syndrome9.9
20tuberculosis9.9
21retinal disease9.9
22hepatocellular carcinoma9.7
23hepatitis c virus9.7
24enhanced s-cone syndrome9.7
25epstein syndrome9.7
26rett syndrome9.7
27atherosclerosis9.7
28hepatitis9.7
29thrombocytopenia9.7
30vitelliform macular dystrophy9.7
31cone dystrophy9.7
32acrofacial dysostosis9.7
33interstitial emphysema9.7
34ecthyma9.7
35geographic tongue9.7
36rheumatic disease9.7
37hepatitis c9.7
38dysostosis9.7
39oligodendroglioma9.7
40multidrug-resistant tuberculosis9.7
41kidney disease9.7
42influenza9.7
43polycystic kidney disease9.7
44haemophilus influenzae9.7
45restrictive dermopathy, lethal9.7LMNA, ZMPSTE24
46proliferative type fibrocystic change of breast9.6LMNA, ZMPSTE24
47reynolds syndrome9.6LMNA, ZMPSTE24
48hutchinson-gilford progeria9.5LMNA, ZMPSTE24
49neuronitis9.5LMNA, ZMPSTE24
50mandibuloacral dysplasia9.4LMNA, 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

HPO human phenotypes related to Restrictive Dermopathy, Lethal:

(show all 71)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the teeth hallmark (90%) HP:0000164
3 open mouth hallmark (90%) HP:0000194
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 micrognathia hallmark (90%) HP:0000347
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 abnormality of the eyelashes hallmark (90%) HP:0000499
8 limitation of joint mobility hallmark (90%) HP:0001376
9 respiratory insufficiency hallmark (90%) HP:0002093
10 short nose hallmark (90%) HP:0003196
11 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
12 external ear malformation hallmark (90%) HP:0008572
13 rough bone trabeculation hallmark (90%) HP:0100670
14 lack of skin elasticity hallmark (90%) HP:0100679
15 cleft palate typical (50%) HP:0000175
16 abnormality of the eye typical (50%) HP:0000478
17 abnormality of the eyebrow typical (50%) HP:0000534
18 blepharophimosis typical (50%) HP:0000581
19 abnormality of the adrenal glands typical (50%) HP:0000834
20 abnormal diaphysis morphology typical (50%) HP:0000940
21 hyperkeratosis typical (50%) HP:0000962
22 polyhydramnios typical (50%) HP:0001561
23 atria septal defect typical (50%) HP:0001631
24 patent ductus arteriosus typical (50%) HP:0001643
25 scoliosis typical (50%) HP:0002650
26 kyphosis typical (50%) HP:0002808
27 congenital, generalized hypertrichosis typical (50%) HP:0004540
28 camptodactyly of finger typical (50%) HP:0100490
29 displacement of the external urethral meatus typical (50%) HP:0100627
30 situs inversus totalis occasional (7.5%) HP:0001696
31 dilatation of the ascending aorta occasional (7.5%) HP:0005111
32 hypospadias HP:0000047
33 ureteral duplication HP:0000073
34 narrow mouth HP:0000160
35 submucous cleft hard palate HP:0000176
36 large fontanelles HP:0000239
37 hypertelorism HP:0000316
38 micrognathia HP:0000347
39 low-set ears HP:0000369
40 abnormality of the pinna HP:0000377
41 narrow nasal ridge HP:0000418
42 choanal atresia HP:0000453
43 blepharophimosis HP:0000581
44 entropion HP:0000621
45 sparse eyelashes HP:0000653
46 natal tooth HP:0000695
47 adrenal hypoplasia HP:0000835
48 short umbilical cord HP:0001196
49 flexion contracture HP:0001371
50 intrauterine growth retardation HP:0001511
51 decreased fetal movement HP:0001558
52 polyhydramnios HP:0001561
53 premature birth HP:0001622
54 atria septal defect HP:0001631
55 patent ductus arteriosus HP:0001643
56 premature rupture of membranes HP:0001788
57 short nail HP:0001799
58 rocker bottom foot HP:0001838
59 pulmonary hypoplasia HP:0002089
60 kyphoscoliosis HP:0002751
61 increased anterioposterior diameter of thorax HP:0005253
62 decreased calvarial ossification HP:0005474
63 overtubulated long bones HP:0006391
64 congenital pseudoarthrosis of the clavicle HP:0006585
65 thin clavicles HP:0006645
66 prominent superficial blood vessels HP:0007394
67 epidermal hyperkeratosis HP:0007543
68 hydropic placenta HP:0011414
69 short palpebral fissure HP:0012745
70 aplasia/hypoplasia of the eyebrow HP:0100840
71 skin erosion 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 Syndrome25

Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1LMNA, ZMPSTE24
2MP:00053758.8LMNA, 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=)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
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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet