MCID: RST011
MIFTS: 39

Restrictive Dermopathy, Lethal malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Restrictive Dermopathy, Lethal

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Aliases & Descriptions for Restrictive Dermopathy, Lethal:

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


Classifications:



External Ids:

OMIM49 275210
MedGen34 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 tight skin contracture syndrome, lethal, is related to mandibuloacral dysplasia and retinitis, 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.

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 top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1mandibuloacral dysplasia30.0LMNA, ZMPSTE24
2retinitis10.7
3respiratory distress syndrome, infant10.6
4adult respiratory distress syndrome10.6
5acute respiratory distress syndrome10.6
6child syndrome10.6
7newborn respiratory distress syndrome10.6
8respiratory system disease10.6
9kid syndrome10.6
10infant acute respiratory distress syndrome10.6
11adult acute respiratory distress syndrome10.6
12retinitis pigmentosa10.5
13adult syndrome10.5
14retinal degeneration10.5
15rhabdomyosarcoma10.5
16gaucher ichthyosis restrictive dermopathy10.5
17nose disease10.4
18bronchopulmonary dysplasia10.4
19neonatal respiratory failure10.3
20respiratory failure10.3
21restrictive dermopathy10.3
22greenberg skeletal dysplasia10.3
23short syndrome10.3
24choroiditis10.3
25pneumothorax10.3
26periventricular leukomalacia10.2
27retinal disease10.2
28leukomalacia10.2
29cone-rod dystrophy10.2
30patent ductus arteriosus10.2
31perinatal necrotizing enterocolitis10.2
32autonomic nervous system disease10.2
33blood protein disease10.2
34patent arterial duct10.2
35lethal restrictive dermopathy, lmna-related10.2
36lethal restrictive dermopathy, zmpste24-related10.2
37keratopathy10.2
38familial partial lipodystrophy10.2
39lipodystrophy10.2
40psoriasis10.2
41progeroid laminopathies10.2
42glucocorticoid therapy, response to10.1
43multiple myeloma10.1
44exudative vitreoretinopathy 110.1
45coronary heart disease 610.1
46n syndrome10.1
47peripheral vascular disease10.1
48tracheal disease10.1
49down syndrome10.1
50central nervous system hematologic cancer10.1

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 74)
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 autosomal recessive inheritance HP:0000007
33 hypospadias HP:0000047
34 ureteral duplication HP:0000073
35 narrow mouth HP:0000160
36 submucous cleft hard palate HP:0000176
37 large fontanelles HP:0000239
38 hypertelorism HP:0000316
39 micrognathia HP:0000347
40 low-set ears HP:0000369
41 abnormality of the pinna HP:0000377
42 narrow nasal ridge HP:0000418
43 choanal atresia HP:0000453
44 blepharophimosis HP:0000581
45 entropion HP:0000621
46 sparse eyelashes HP:0000653
47 natal tooth HP:0000695
48 adrenal hypoplasia HP:0000835
49 short umbilical cord HP:0001196
50 flexion contracture HP:0001371
51 heterogeneous HP:0001425
52 intrauterine growth retardation HP:0001511
53 decreased fetal movement HP:0001558
54 polyhydramnios HP:0001561
55 premature birth HP:0001622
56 atria septal defect HP:0001631
57 patent ductus arteriosus HP:0001643
58 premature rupture of membranes HP:0001788
59 short nail HP:0001799
60 rocker bottom foot HP:0001838
61 pulmonary hypoplasia HP:0002089
62 kyphoscoliosis HP:0002751
63 stillbirth HP:0003826
64 increased anterioposterior diameter of thorax HP:0005253
65 decreased calvarial ossification HP:0005474
66 overtubulated long bones HP:0006391
67 congenital pseudoarthrosis of the clavicle HP:0006585
68 thin clavicles HP:0006645
69 prominent superficial blood vessels HP:0007394
70 epidermal hyperkeratosis HP:0007543
71 hydropic placenta HP:0011414
72 short palpebral fissure HP:0012745
73 aplasia/hypoplasia of the eyebrow HP:0100840
74 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 Syndrome24

Anatomical Context for Restrictive Dermopathy, Lethal

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MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LMNA, ZMPSTE24
2MP:00053718.8LMNA, 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 pathways (with members indented)ScoreTop 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet