MCID: RST011
MIFTS: 44

Restrictive Dermopathy, Lethal

Categories: Genetic diseases, Rare diseases, Fetal 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
Lethal Restrictive Dermopathy 12 59 15
Restrictive Dermopathy 59 75 37
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 57 53
Tight Skin Contracture Syndrome, Lethal 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 LMNA (Lamin A/C), 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

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.

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.

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 70)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 29.7 LMNA ZMPSTE24
2 gaucher ichthyosis restrictive dermopathy 12.2
3 respiratory distress syndrome in premature infants 11.8
4 reticular dysgenesis 11.6
5 respiratory distress syndrome, infant 11.0
6 renal hypodysplasia/aplasia 1 10.9
7 renal hypodysplasia/aplasia 2 10.9
8 bronchopulmonary dysplasia 10.9
9 radin blood group antigen 10.9
10 refsum disease, classic 10.9
11 adult respiratory distress syndrome 10.9
12 retinitis 10.5
13 retinitis pigmentosa 10.3
14 leber congenital amaurosis 4 10.3
15 rhabdomyosarcoma 10.3
16 retinal degeneration 10.3
17 choroiditis 10.1
18 cone-rod dystrophy 2 10.0
19 acroosteolysis 10.0 LMNA ZMPSTE24
20 reynolds syndrome 9.9 LMNA ZMPSTE24
21 embryonal rhabdomyosarcoma 9.9
22 fundus dystrophy 9.9
23 butterfly-shaped pigment dystrophy 9.9
24 hallermann-streiff syndrome 9.9 LMNA ZMPSTE24
25 neu-laxova syndrome 1 9.8
26 adrenomyodystrophy 9.8
27 keratopathy 9.8
28 familial partial lipodystrophy 9.8
29 partial lipodystrophy 9.8
30 psoriasis 9.8
31 macular degeneration, age-related, 1 9.8
32 retinal disease 9.8
33 influenza 9.8
34 haemophilus influenzae 9.8
35 congenital generalized lipodystrophy 9.8 LMNA ZMPSTE24
36 breast cancer 9.7
37 hepatocellular carcinoma 9.7
38 macular dystrophy, concentric annular 9.7
39 acheiropody 9.7
40 polycystic kidney disease 4 with or without polycystic liver disease 9.7
41 enhanced s-cone syndrome 9.7
42 squamous cell carcinoma, head and neck 9.7
43 rett syndrome 9.7
44 aging 9.7
45 cervical cancer 9.7
46 body mass index quantitative trait locus 1 9.7
47 hepatitis c virus 9.7
48 hepatitis 9.7
49 thrombocytopenia 9.7
50 vitelliform macular dystrophy 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

Endocrine Features:
adrenal hypoplasia

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

Skeletal Spine:
kyphoscoliosis

Respiratory Lung:
pulmonary 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 75)
# 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 aplasia/hypoplasia involving the nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0009924
28 transposition of the great arteries 59 32 occasional (7.5%) Occasional (29-5%) HP:0001669
29 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
30 submucous cleft hard palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000176
31 skin erosion 59 32 hallmark (90%) Very frequent (99-80%) HP:0200041
32 pulmonary hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002089
33 sparse eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0045075
34 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
35 aplasia/hypoplasia of the clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006710
36 multiple joint contractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002828
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 natal tooth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000695
40 stiff skin 59 32 obligate (100%) Obligate (100%) HP:0030053
41 entropion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000621
42 short umbilical cord 59 32 hallmark (90%) Very frequent (99-80%) HP:0001196
43 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
44 widely patent fontanelles and sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0004492
45 increased anterioposterior diameter of thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0005253
46 premature delivery because of cervical insufficiency or membrane fragility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005267
47 small placenta 59 32 hallmark (90%) Very frequent (99-80%) HP:0006266
48 thin clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006645
49 epidermal hyperkeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007543
50 aplasia/hypoplastia of the eccrine sweat glands 59 32 hallmark (90%) Very frequent (99-80%) HP:0007592

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 KRT14 LMNA ZMPSTE24 AQP3 DHCR24
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

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

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 112)
# 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 ZMPSTE24 NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs) deletion Pathogenic rs281875360 GRCh37 Chromosome 1, 40723993: 40723993
14 ZMPSTE24 NM_005857.4(ZMPSTE24): c.50delA (p.Lys17Serfs) deletion Pathogenic rs281875360 GRCh38 Chromosome 1, 40258321: 40258321
15 ZMPSTE24 NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs) deletion Pathogenic rs786205123 GRCh37 Chromosome 1, 40735756: 40735757
16 ZMPSTE24 NM_005857.4(ZMPSTE24): c.584_585delAT (p.Tyr195Phefs) deletion Pathogenic rs786205123 GRCh38 Chromosome 1, 40270084: 40270085
17 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh37 Chromosome 1, 156108549: 156108549
18 LMNA NM_170707.3(LMNA): c.1968+1G> A single nucleotide variant Pathogenic rs113436208 GRCh38 Chromosome 1, 156138758: 156138758
19 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh37 Chromosome 1, 40758176: 40758176
20 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh38 Chromosome 1, 40292504: 40292504
21 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh37 Chromosome 1, 156106966: 156106966
22 LMNA NM_170707.3(LMNA): c.1551G> A (p.Gln517=) single nucleotide variant Conflicting interpretations of pathogenicity rs41314035 GRCh38 Chromosome 1, 156137175: 156137175
23 ZMPSTE24 NM_005857.4(ZMPSTE24): c.818delA (p.Lys273Argfs) deletion Pathogenic rs886044057 GRCh37 Chromosome 1, 40747063: 40747063
24 ZMPSTE24 NM_005857.4(ZMPSTE24): c.818delA (p.Lys273Argfs) deletion Pathogenic rs886044057 GRCh38 Chromosome 1, 40281391: 40281391
25 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh37 Chromosome 1, 156084572: 156084572
26 LMNA NM_005572.3(LMNA): c.-138T> C single nucleotide variant Uncertain significance rs886045359 GRCh38 Chromosome 1, 156114781: 156114781
27 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh37 Chromosome 1, 156084648: 156084648
28 LMNA NM_005572.3(LMNA): c.-62C> A single nucleotide variant Uncertain significance rs886045361 GRCh38 Chromosome 1, 156114857: 156114857
29 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh37 Chromosome 1, 156085004: 156085004
30 LMNA NM_005572.3(LMNA): c.295C> A (p.Arg99Ser) single nucleotide variant Uncertain significance rs886045364 GRCh38 Chromosome 1, 156115213: 156115213
31 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh37 Chromosome 1, 156105115: 156105115
32 LMNA NM_005572.3(LMNA): c.936+12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199881992 GRCh38 Chromosome 1, 156135324: 156135324
33 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh37 Chromosome 1, 156106819: 156106819
34 LMNA NM_005572.3(LMNA): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs375516745 GRCh38 Chromosome 1, 156137028: 156137028
35 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh37 Chromosome 1, 156084484: 156084484
36 LMNA NM_005572.3(LMNA): c.-226C> T single nucleotide variant Uncertain significance rs886045354 GRCh38 Chromosome 1, 156114693: 156114693
37 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh37 Chromosome 1, 156084485: 156084485
38 LMNA NM_005572.3(LMNA): c.-225C> A single nucleotide variant Uncertain significance rs886045355 GRCh38 Chromosome 1, 156114694: 156114694
39 LMNA NM_005572.3(LMNA): c.-210T> C single nucleotide variant Uncertain significance rs886045356 GRCh37 Chromosome 1, 156084500: 156084500
40 LMNA NM_005572.3(LMNA): c.-210T> C single nucleotide variant Uncertain significance rs886045356 GRCh38 Chromosome 1, 156114709: 156114709
41 LMNA NM_005572.3(LMNA): c.-183C> A single nucleotide variant Uncertain significance rs886045357 GRCh37 Chromosome 1, 156084527: 156084527
42 LMNA NM_005572.3(LMNA): c.-183C> A single nucleotide variant Uncertain significance rs886045357 GRCh38 Chromosome 1, 156114736: 156114736
43 LMNA NM_005572.3(LMNA): c.-142C> A single nucleotide variant Uncertain significance rs886045358 GRCh37 Chromosome 1, 156084568: 156084568
44 LMNA NM_005572.3(LMNA): c.-142C> A single nucleotide variant Uncertain significance rs886045358 GRCh38 Chromosome 1, 156114777: 156114777
45 LMNA NM_005572.3(LMNA): c.-128T> C single nucleotide variant Likely benign rs80356803 GRCh37 Chromosome 1, 156084582: 156084582
46 LMNA NM_005572.3(LMNA): c.-128T> C single nucleotide variant Likely benign rs80356803 GRCh38 Chromosome 1, 156114791: 156114791
47 LMNA NM_005572.3(LMNA): c.-109G> T single nucleotide variant Uncertain significance rs886045360 GRCh37 Chromosome 1, 156084601: 156084601
48 LMNA NM_005572.3(LMNA): c.-109G> T single nucleotide variant Uncertain significance rs886045360 GRCh38 Chromosome 1, 156114810: 156114810
49 LMNA NM_005572.3(LMNA): c.-88G> T single nucleotide variant Likely benign rs115800510 GRCh37 Chromosome 1, 156084622: 156084622
50 LMNA NM_005572.3(LMNA): c.-88G> T single nucleotide variant Likely benign rs115800510 GRCh38 Chromosome 1, 156114831: 156114831

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 8.62 KRT14 LMNA

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 8.96 AQP3 LMNA
2 nuclear envelope organization GO:0006998 8.62 LMNA ZMPSTE24

Sources for Restrictive Dermopathy, Lethal

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