LTSCS
MCID: RST011
MIFTS: 47

Restrictive Dermopathy, Lethal (LTSCS)

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

Aliases & Classifications for Restrictive Dermopathy, Lethal

MalaCards integrated aliases for Restrictive Dermopathy, Lethal:

Name: Restrictive Dermopathy, Lethal 57 53 13
Lethal Tight Skin Contracture Syndrome 75 29 6 73
Hyperkeratosis-Contracture Syndrome 57 12 53 59
Tight Skin Contracture Syndrome, Lethal 57 53 44
Lethal Restrictive Dermopathy 12 59 15
Restrictive Dermopathy 59 75 37
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 57 53
Tight Skin Contracture Syndrome 12 59
Dermopathy, Restrictive, Lethal 40
Dermopathy, Restrictive 40
Ltscs 75
Rd 75

Characteristics:

Orphanet epidemiological data:

59
restrictive dermopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
liveborn often die within first week of life


HPO:

32
restrictive dermopathy, lethal:
Mortality/Aging stillbirth
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Restrictive Dermopathy, Lethal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1662Disease definitionRestrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) (see these terms) and pulmonary hypoplasia without neurological abnormalities.EpidemiologyTo date, approximately 80 children with RD have been described in the world literature.Clinical descriptionRD is a congenital disorder and newborns are usually born prematurely (due to premature rupture of the membranes with subsequent delivery at about 30-32 weeks of gestation) with a very tight, thin, rigid and shiny skin with erosions and scaling, epidermal hyperkeratosis, prominent skin vessels, that results in limited joint movement and restricted growth of the underlying tissues, often rupturing and lacerating at flexure sites during delivery. Facial dysmorphism is also a characteristic feature of RD and includes telecanthus, short, down-slanting palpebral fissures, sparse/absent eyelashes and eyebrows, a small and pinched nose, posteriorly rotated low-set ears, micrognathia, and mouth fixed in the ''O'' position. Additional features include congenital anonychia (see this term), narrow chest, dysplastic clavicles, rocker-bottom feet and arthrogryposis multiplex. Intrauterine growth retardation (IUGR), polyhydramnios, decreased fetal movements, FADS, large placenta, neonatal teeth, choanal atresia, pterygium colli, patent arterial duct, interauricular communication (see these terms), dorsal kyphoscoliosis, camptodactyly, hypospadias, ureteral duplication, adrenal hypoplasia, have been occasionally reported. Pulmonary hypoplasia most often leads to respiratory insufficiency and death. Neither structural central nervous system nor visceral defects occur in RD.EtiologyRD can be caused by heterozygous, de novomutations of the LMNA (1q22) gene (primary laminopathy) or, much more frequently, by homozygous null mutations of the ZMPSTE24 (1p34) gene (secondary laminopathy). Defects in ZMPSTE24 impair the processing of prelamin A into mature lamin A, leading to the massive intranuclear accumulation of prelamin A isoforms which exert toxic effects and lead to the development of RD.Genetic counselingThe rare mutations in the LMNA gene have a dominant effect (de novo, heterozygous mutations with putative, low risk of germinal mosaic in the parents) while the frequently observed ZMPSTE24 mutations are inherited recessively, leading to the possibility of prenatal diagnosis for further pregnancies (25% risk of having another affected child for two mutation carriers), if the molecular bases of the disease are identified.Visit the Orphanet disease page for more resources.

MalaCards based summary : Restrictive Dermopathy, Lethal, also known as lethal tight skin contracture syndrome, is related to mandibuloacral dysplasia with type a lipodystrophy and gaucher ichthyosis restrictive dermopathy. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Adipogenesis. Affiliated tissues include skin, placenta and bone, and related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 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 : 57 Restrictive dermopathy is a rare, lethal genodermatosis with characteristic manifestations that are easily recognizable at birth: thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs can include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life (summary by Smigiel et al., 2010). (275210)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by syndromic... more...

Related Diseases for Restrictive Dermopathy, Lethal

Diseases related to Restrictive Dermopathy, Lethal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 29.9 ZMPSTE24 LMNA
2 gaucher ichthyosis restrictive dermopathy 12.3
3 respiratory distress syndrome in premature infants 12.1
4 reticular dysgenesis 11.7
5 respiratory distress syndrome, infant 11.5
6 bronchopulmonary dysplasia 11.4
7 renal hypodysplasia/aplasia 1 11.0
8 renal hypodysplasia/aplasia 2 11.0
9 radin blood group antigen 11.0
10 refsum disease, classic 11.0
11 adult respiratory distress syndrome 11.0
12 retinal degeneration 10.5
13 retinitis 10.4
14 retinitis pigmentosa 10.4
15 leber congenital amaurosis 4 10.4
16 rhabdomyosarcoma 10.4
17 haemophilus influenzae 10.1
18 cone-rod dystrophy 2 10.0
19 fundus dystrophy 10.0
20 complete generalized lipodystrophy 10.0 ZMPSTE24 LMNA
21 ovarian cystadenoma 10.0 ZMPSTE24 LMNA
22 acroosteolysis 10.0 ZMPSTE24 LMNA
23 reynolds syndrome 10.0 ZMPSTE24 LMNA
24 macular dystrophy, patterned, 1 10.0
25 retinoblastoma 10.0
26 embryonal rhabdomyosarcoma 10.0
27 butterfly-shaped pigment dystrophy 10.0
28 lipodystrophy, congenital generalized, type 1 10.0 ZMPSTE24 LMNA
29 congenital generalized lipodystrophy 10.0 ZMPSTE24 LMNA
30 hallermann-streiff syndrome 9.9 ZMPSTE24 LMNA
31 microcolon 9.9
32 neu-laxova syndrome 1 9.9
33 adrenomyodystrophy 9.9
34 alkuraya-kucinskas syndrome 9.9
35 keratopathy 9.9
36 familial partial lipodystrophy 9.9
37 psoriasis 9.9
38 transposition of the great arteries 9.9
39 acquired generalized lipodystrophy 9.9 ZMPSTE24 LMNA
40 fundus albipunctatus 9.9
41 disorganization, mouse, homolog of 9.9
42 macular degeneration, age-related, 1 9.9
43 polycystic kidney disease 9.9
44 placenta praevia 9.9
45 kidney disease 9.9
46 retinal disease 9.9
47 hutchinson-gilford progeria syndrome 9.8 ZMPSTE24 LMNA
48 burkitt lymphoma 9.7
49 hepatocellular carcinoma 9.7
50 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7

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



Diseases related to Restrictive Dermopathy, Lethal

Symptoms & Phenotypes for Restrictive Dermopathy, Lethal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
entropion
short palpebral fissures
sparse/absent eyelashes
sparse/absent eyebrows

Head And Neck Mouth:
cleft palate
small mouth
submucous cleft palate
ankylosis of temporomandibular joint

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
atrial septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Skull:
large fontanelles
poorly mineralized skull
widened suture

Prenatal Manifestations Delivery:
premature birth
premature rupture of membranes
stillbirth

Skeletal Spine:
kyphoscoliosis

Prenatal Manifestations Placenta And Umbilical Cord:
short umbilical cord
hydropic placenta

Skeletal Limbs:
overtubulated long bones
joint contractures

Skin Nails Hair Nails:
short nails
long nails

Head And Neck Teeth:
natal teeth

Skin Nails Hair Hair:
sparse/absent eyelashes
sparse/absent eyebrows
sparse/absent lanugo
normal scalp hair

Chest Ribs Sternum Clavicles And Scapulae:
thin, dysplastic bipartite clavicles
ribbon-like ribs

Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Face:
micrognathia
expressionless facies

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
choanal atresia
small, pinched nose

Genitourinary Ureters:
ureteral duplication

Respiratory Lung:
pulmonary hypoplasia

Endocrine Features:
adrenal hypoplasia

Skin Nails Hair Skin:
epidermal hyperkeratosis
tight, rigid skin
skin erosions
prominent superficial vasculature
skin fissures (groin, axilla, neck)
more
Head And Neck Head:
large fontanel

Skeletal Feet:
rocker-bottom feet

Prenatal Manifestations Movement:
decreased fetal activity

Chest External Features:
increased anterioposterior diameter of chest


Clinical features from OMIM:

275210

Human phenotypes related to Restrictive Dermopathy, Lethal:

59 32 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
3 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
4 generalized hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005595
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 scaling skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0040189
7 patent ductus arteriosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001643
8 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
9 webbed neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000465
10 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
11 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
12 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
13 microcolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0004388
14 thin ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000883
15 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
16 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
17 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
18 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
19 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
20 decreased fetal movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0001558
21 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
22 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
23 ureteral duplication 59 32 occasional (7.5%) Occasional (29-5%) HP:0000073
24 dextrocardia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001651
25 premature birth 59 32 Very frequent (99-80%) HP:0001622
26 large placenta 59 32 occasional (7.5%) Occasional (29-5%) HP:0006267
27 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
28 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
29 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
30 multiple joint contractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002828
31 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
32 submucous cleft hard palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000176
33 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
34 sparse eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0045075
35 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
36 aplasia/hypoplasia of the clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006710
37 short nail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001799
38 sparse or absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0200102
39 stiff skin 59 32 obligate (100%) Obligate (100%) HP:0030053
40 entropion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000621
41 short umbilical cord 59 32 hallmark (90%) Very frequent (99-80%) HP:0001196
42 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
43 widely patent fontanelles and sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0004492
44 increased anterioposterior diameter of thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0005253
45 premature delivery because of cervical insufficiency or membrane fragility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005267
46 small placenta 59 32 hallmark (90%) Very frequent (99-80%) HP:0006266
47 thin clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006645
48 epidermal hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007543
49 aplasia/hypoplastia of the eccrine sweat glands 59 32 hallmark (90%) Very frequent (99-80%) HP:0007592
50 structural foot deformity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010219

MGI Mouse Phenotypes related to Restrictive Dermopathy, Lethal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.76 DHCR24 KRT14 LMNA ZMPSTE24
2 craniofacial MP:0005382 9.73 AQP3 KRT14 LMNA ZMPSTE24
3 growth/size/body region MP:0005378 9.72 AQP3 DHCR24 KRT14 LMNA ZMPSTE24
4 digestive/alimentary MP:0005381 9.71 AQP3 KRT14 LMNA ZMPSTE24
5 endocrine/exocrine gland MP:0005379 9.67 DHCR24 KRT14 LMNA ZMPSTE24
6 homeostasis/metabolism MP:0005376 9.55 AQP3 DHCR24 KRT14 LMNA ZMPSTE24
7 hearing/vestibular/ear MP:0005377 9.43 AQP3 KRT14 LMNA
8 integument MP:0010771 9.26 DHCR24 KRT14 LMNA ZMPSTE24
9 mortality/aging MP:0010768 9.02 AQP3 DHCR24 KRT14 LMNA ZMPSTE24

Drugs & Therapeutics for Restrictive Dermopathy, Lethal

Search Clinical Trials , NIH Clinical Center for Restrictive Dermopathy, Lethal

Cochrane evidence based reviews: tight skin contracture syndrome, lethal

Genetic Tests for Restrictive Dermopathy, Lethal

Genetic tests related to Restrictive Dermopathy, Lethal:

# Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome 29 LMNA ZMPSTE24

Anatomical Context for Restrictive Dermopathy, Lethal

MalaCards organs/tissues related to Restrictive Dermopathy, Lethal:

41
Skin, Placenta, Bone, Kidney, Liver, B Cells, Skeletal Muscle

Publications for Restrictive Dermopathy, Lethal

Articles related to Restrictive Dermopathy, Lethal:

# Title Authors Year
1
A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan. ( 25260550 )
2015

Variations for Restrictive Dermopathy, Lethal

ClinVar genetic disease variations for Restrictive Dermopathy, Lethal:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs) duplication Pathogenic rs137854889 GRCh37 Chromosome 1, 40756551: 40756551
2 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs) duplication Pathogenic rs137854889 GRCh38 Chromosome 1, 40290879: 40290879
3 ZMPSTE24 NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter) single nucleotide variant Pathogenic rs267607181 GRCh37 Chromosome 1, 40737653: 40737653
4 ZMPSTE24 NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter) single nucleotide variant Pathogenic rs267607181 GRCh38 Chromosome 1, 40271981: 40271981
5 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
6 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
7 ZMPSTE24 NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs) duplication Pathogenic rs281875361 GRCh37 Chromosome 1, 40723997: 40723997
8 ZMPSTE24 NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs) duplication Pathogenic rs281875361 GRCh38 Chromosome 1, 40258325: 40258325
9 ZMPSTE24 NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs) duplication Pathogenic rs281875367 GRCh37 Chromosome 1, 40735763: 40735763
10 ZMPSTE24 NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs) duplication Pathogenic rs281875367 GRCh38 Chromosome 1, 40270091: 40270091
11 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
12 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
13 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
14 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
15 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
16 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
17 ZMPSTE24 NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs) deletion Pathogenic rs281875360 GRCh37 Chromosome 1, 40723993: 40723993
18 ZMPSTE24 NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs) deletion Pathogenic rs281875360 GRCh38 Chromosome 1, 40258321: 40258321
19 ZMPSTE24 NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs) deletion Pathogenic rs786205123 GRCh37 Chromosome 1, 40735756: 40735757
20 ZMPSTE24 NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs) deletion Pathogenic rs786205123 GRCh38 Chromosome 1, 40270084: 40270085
21 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
22 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
23 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
24 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
25 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
26 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
27 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
28 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
29 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
30 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
31 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
32 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
33 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
34 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
35 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
36 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
37 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
38 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
39 ZMPSTE24 NM_005857.4(ZMPSTE24): c.651T> C (p.Asp217=) single nucleotide variant Benign rs2076697 GRCh37 Chromosome 1, 40737589: 40737589
40 ZMPSTE24 NM_005857.4(ZMPSTE24): c.651T> C (p.Asp217=) single nucleotide variant Benign rs2076697 GRCh38 Chromosome 1, 40271917: 40271917
41 ZMPSTE24 NM_005857.4(ZMPSTE24): c.325T> G (p.Cys109Gly) single nucleotide variant Uncertain significance rs141386841 GRCh37 Chromosome 1, 40733512: 40733512
42 ZMPSTE24 NM_005857.4(ZMPSTE24): c.325T> G (p.Cys109Gly) single nucleotide variant Uncertain significance rs141386841 GRCh38 Chromosome 1, 40267840: 40267840
43 ZMPSTE24 NM_005857.4(ZMPSTE24): c.*723C> T single nucleotide variant Likely benign rs10489431 GRCh37 Chromosome 1, 40759064: 40759064
44 ZMPSTE24 NM_005857.4(ZMPSTE24): c.*723C> T single nucleotide variant Likely benign rs10489431 GRCh38 Chromosome 1, 40293392: 40293392
45 ZMPSTE24 NM_005857.4(ZMPSTE24): c.*890A> G single nucleotide variant Likely benign rs10489432 GRCh37 Chromosome 1, 40759231: 40759231
46 ZMPSTE24 NM_005857.4(ZMPSTE24): c.*890A> G single nucleotide variant Likely benign rs10489432 GRCh38 Chromosome 1, 40293559: 40293559
47 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh37 Chromosome 1, 40758176: 40758176
48 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh38 Chromosome 1, 40292504: 40292504
49 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
50 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175

Expression for Restrictive Dermopathy, Lethal

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

Pathways for Restrictive Dermopathy, Lethal

Pathways related to Restrictive Dermopathy, Lethal according to KEGG:

37
# Name Kegg Source Accession
1 Terpenoid backbone biosynthesis hsa00900

GO Terms for Restrictive Dermopathy, Lethal

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.96 KRT14 LMNA
2 nuclear envelope GO:0005635 8.62 LMNA ZMPSTE24

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.26 AQP3 LMNA
2 epidermis development GO:0008544 9.16 KRT14 ZMPSTE24
3 nucleus organization GO:0006997 8.96 LMNA ZMPSTE24
4 nuclear envelope organization GO:0006998 8.62 LMNA ZMPSTE24

Sources for Restrictive Dermopathy, Lethal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....