LTSCS
MCID: RST011
MIFTS: 51

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 20 13
Lethal Tight Skin Contracture Syndrome 72 29 6 70
Tight Skin Contracture Syndrome, Lethal 57 20 44
Hyperkeratosis-Contracture Syndrome 57 12 20
Lethal Restrictive Dermopathy 12 58 15
Restrictive Dermopathy 58 72 36
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 57 20
Lethal Hyperkeratosis-Contracture Syndrome 58
Lethal Tight Skin-Contracture Syndrome 58
Tight Skin Contracture Syndrome 12
Dermopathy, Restrictive, Lethal 39
Dermopathy, Restrictive 39
Ltscs 72
Rd 72

Characteristics:

Orphanet epidemiological data:

58
restrictive dermopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
restrictive dermopathy, lethal:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Restrictive Dermopathy, Lethal

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1662 Definition A congenital genodermatosis with skin/mucosae involvement, 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) and pulmonary hypoplasia without neurological abnormalities. Epidemiology To date, approximately 80 children with restrictive dermopathy (RD) have been described in the world literature. Clinical description RD is a congenital disorder and newborns are usually born prematurely (due to premature rupture of membranes with delivery at about 30-32 weeks of gestation). They present at birth with a very typical and recognizable clinical phenotype including tight, thin, rigid and translucent skin with epidermal hyperkeratosis and shedding, erosions and scaling at flexure sites, protruding nipples. Skeletal defects include: bone mineralization defects, large fontanelles, thin dysplastic clavicles, narrow chest, overtubulated long bones, generalized arthrogryposis with rocker-bottom feet. Facial dysmorphism is also characteristic and includes telecanthus, short, down-slanting palpebral fissures, sparse/absent eyelashes and eyebrows, a small and pinched nose, posteriorly rotated low-set ears, retromicrognathism and a small mouth fixed in the ''O'' position with expressionless facies. Additional features may include congenital anonychia, neonatal teeth, ectropion, choanal atresia, patent ductus arteriosus, interatrial septal defects, kyphoscoliosis, camptodactyly, hypospadias (males), ureteral duplication, adrenal hypoplasia. Intrauterine growth retardation (IUGR) with polyhydramnios, and decreased fetal movements are almost always reported. Pulmonary hypoplasia most often leads to respiratory insufficiency and death. Neither structural central nervous system nor visceral defects occur in RD. Etiology RD can be caused by heterozygous, de novo mutations of the LMNA gene (primary Laminopathy) or, much more frequently, by homozygous or compound heterozygous null mutations of the ZMPSTE24 gene (secondary Laminopathy). Defects in ZMPSTE24 impair the processing of Prelamin A into mature Lamin A, causing the massive intranuclear accumulation of wild type Prelamin A which exerts sytemic toxic effects and leads to the development of RD. Diagnostic methods The diagnosis is based upon physical examination at birth and skin histology (flat dermis with paucity/hypoplasia of appendages, abnormally dense collagen bundles parallel to the dermo-epidermic basal lamina and almost total depletion of elastic fibers), cerebral imagery, blood analysis. Molecular genetic testing for mutations confirms the diagnosis and allows genetic counselling. Differential diagnosis Yunis-varon syndrome, Neu-laxova syndrome, Pena-Shokeir syndrome, cerebrooculofacioskeletal syndrome, Parana hard-skin syndrome, aplasia cutis congenita, lethal multiple pterygium syndrome. Antenatal diagnosis Earliest manifestations are only apparent in the late second trimester/early third trimester and include intrauterine growth retardation, decreased fetal movements, eventual joint contractures, and mouth fixed in an 'O' position. However, these signs are too nonspecific to suggest the diagnosis prenatally in cases with no family history. Genetic counseling The ZMPSTE24 mutations are inherited recessively, leading to the possibility of genetic counseling and prenatal diagnosis for further pregnancies if the molecular bases of the disease are identified (25% risk of having an affected child for two mutation carriers ). The rare dominant mutations in the LMNA gene are de novo and the risk of recurrence of the disorder is very low (eventual germinal mosaicism). Management and treatment Corticosteroids are administered for fetal lung maturation. Gavage feeding may be necessary. Supportive treatment consists of mechanical ventilation, broad-spectrum antibiotics, parenteral nutrition, and intravenous analgesia. Prognosis The affected babies who are liveborn often die within the first week of life.

MalaCards based summary : Restrictive Dermopathy, Lethal, also known as lethal tight skin contracture syndrome, is related to mandibuloacral dysplasia with type a lipodystrophy and laminopathy. An important gene associated with Restrictive Dermopathy, Lethal is ZMPSTE24 (Zinc Metallopeptidase STE24), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Transport of vitamins, nucleosides, and related molecules. Affiliated tissues include skin, placenta and fetal lung, and related phenotypes are stiff skin and osteopenia

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) (Updated 05-Apr-2021)

KEGG : 36 Restrictive dermopathy (LD) is a rare, lethal autosomal recessive genodermatosis caused by mutations in either LMNA or ZMPSTE24. Manifestations include a tight, thin, translucent skin, typical face, multiple joint contractures, enlarged fontanelles, and dysplasia of clavicles.

UniProtKB/Swiss-Prot : 72 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 : 73 Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by... 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 73)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 31.0 ZMPSTE24 LMNA
2 laminopathy 31.0 ZMPSTE24 LMNA
3 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.2 ZMPSTE24 LMNA
4 hutchinson-gilford progeria syndrome 30.2 ZMPSTE24 RCE1 LMNA ICMT
5 gaucher ichthyosis restrictive dermopathy 11.3
6 erythrokeratoderma ''en cocardes'' 10.5
7 congenital amyoplasia 10.5
8 mandibuloacral dysplasia with type b lipodystrophy 10.4
9 skin disease 10.3
10 polyhydramnios 10.3
11 fetal akinesia deformation sequence 1 10.3
12 acroosteolysis 10.2 ZMPSTE24 LMNA
13 acquired generalized lipodystrophy 10.2 ZMPSTE24 LMNA
14 reynolds syndrome 10.2 ZMPSTE24 LMNA
15 ichthyosis prematurity syndrome 10.2 SLC27A4 SLC27A1
16 emery-dreifuss muscular dystrophy 3, autosomal recessive 10.2 ZMPSTE24 LMNA
17 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.2 ZMPSTE24 LMNA
18 melkersson-rosenthal syndrome 10.2 SLC27A6 SLC27A1
19 complete generalized lipodystrophy 10.2 ZMPSTE24 LMNA
20 charcot-marie-tooth disease, axonal, type 2b1 10.2 ZMPSTE24 LMNA
21 hallermann-streiff syndrome 10.2 ZMPSTE24 ICMT
22 lipodystrophy, familial partial, type 5 10.1 ZMPSTE24 LMNA
23 hypertelorism 10.1
24 adrenomyodystrophy 10.1
25 charcot-marie-tooth disease, axonal, type 2e 10.1
26 ichthyosis 10.1
27 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 ZMPSTE24 LMNA
28 keratosis 10.1
29 skin atrophy 10.1 ZMPSTE24 LMNA
30 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.1 ZMPSTE24 RCE1 LMNA
31 platelet glycoprotein iv deficiency 10.1 SLC27A6 SLC27A4 SLC27A1
32 persistent fetal circulation syndrome 10.1 SLC27A6 SLC27A4 SLC27A1
33 lipodystrophy, familial partial, type 2 10.0 ZMPSTE24 LMNA
34 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 10.0
35 teeth present at birth 10.0
36 cerebrooculofacioskeletal syndrome 1 10.0
37 hydrops fetalis, nonimmune 10.0
38 microcolon 10.0
39 neu-laxova syndrome 1 10.0
40 parana hard-skin syndrome 10.0
41 multiple pterygium syndrome, escobar variant 10.0
42 preterm premature rupture of the membranes 10.0
43 cerebrooculofacioskeletal syndrome 2 10.0
44 cerebrooculofacioskeletal syndrome 4 10.0
45 lymphatic malformation 7 10.0
46 familial partial lipodystrophy 10.0
47 exanthem 10.0
48 distal arthrogryposis 10.0
49 autosomal recessive disease 10.0
50 organic acidemia 10.0

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



Diseases related to Restrictive Dermopathy, Lethal

Symptoms & Phenotypes for Restrictive Dermopathy, Lethal

Human phenotypes related to Restrictive Dermopathy, Lethal:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stiff skin 58 31 obligate (100%) Obligate (100%) HP:0030053
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 generalized hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005595
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
8 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
9 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
10 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
11 patent ductus arteriosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001643
12 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
13 decreased fetal movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0001558
14 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
15 aplasia/hypoplasia involving the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0009924
16 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
17 skin erosion 58 31 hallmark (90%) Very frequent (99-80%) HP:0200041
18 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
19 submucous cleft hard palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000176
20 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
21 sparse eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0045075
22 thin ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000883
23 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
24 sparse or absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0200102
25 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
26 entropion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000621
27 temporomandibular joint ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012478
28 dermal translucency 58 31 hallmark (90%) Very frequent (99-80%) HP:0010648
29 aplasia/hypoplasia of the clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0006710
30 scaling skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0040189
31 small placenta 58 31 hallmark (90%) Very frequent (99-80%) HP:0006266
32 abnormal cellular phenotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0025354
33 thin clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0006645
34 short umbilical cord 58 31 hallmark (90%) Very frequent (99-80%) HP:0001196
35 widely patent fontanelles and sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0004492
36 increased anterioposterior diameter of thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0005253
37 premature delivery because of cervical insufficiency or membrane fragility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005267
38 epidermal hyperkeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007543
39 aplasia/hypoplastia of the eccrine sweat glands 58 31 hallmark (90%) Very frequent (99-80%) HP:0007592
40 structural foot deformity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010219
41 webbed neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000465
42 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
43 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
44 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
45 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
46 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
47 large placenta 58 31 occasional (7.5%) Occasional (29-5%) HP:0006267
48 ureteral duplication 58 31 occasional (7.5%) Occasional (29-5%) HP:0000073
49 dextrocardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001651
50 transposition of the great arteries 58 31 occasional (7.5%) Occasional (29-5%) HP:0001669

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
entropion
short palpebral fissures
sparse/absent eyelashes
sparse/absent eyebrows

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears
dysplastic ears

Skeletal Spine:
kyphoscoliosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
hypospadias

Prenatal Manifestations Delivery:
premature birth
stillbirth
premature rupture of membranes

Respiratory Lung:
pulmonary hypoplasia

Skeletal Limbs:
overtubulated long bones
joint contractures

Skin Nails Hair Skin:
epidermal hyperkeratosis
tight, rigid skin
skin erosions
prominent superficial vasculature
skin fissures (groin, axilla, neck)
more
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 Mouth:
cleft palate
small mouth
submucous cleft palate
ankylosis of temporomandibular joint

Head And Neck Face:
micrognathia
expressionless facies

Cardiovascular Heart:
atrial septal defect

Head And Neck Nose:
choanal atresia
small, pinched nose

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
large fontanelles
poorly mineralized skull
widened suture

Genitourinary Ureters:
ureteral duplication

Endocrine Features:
adrenal hypoplasia

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

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 (Updated 05-Apr-2021)

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:

40
Skin, Placenta, Fetal Lung, Bone

Publications for Restrictive Dermopathy, Lethal

Articles related to Restrictive Dermopathy, Lethal:

(show top 50) (show all 141)
# Title Authors PMID Year
1
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. 6 57 61
22495976 2012
2
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. 57 6 61
20635340 2010
3
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. 61 6 57
20101687 2010
4
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. 61 57 6
20034068 2010
5
A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. 57 6 61
19504603 2009
6
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. 57 6 61
16297189 2005
7
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 57 6 61
15317753 2004
8
Restrictive dermopathy. 6 57 61
8152880 1993
9
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6 57
22981120 2012
10
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. 57 6
3840649 1985
11
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. 57 61
15843403 2005
12
Cloning of wrinkle-free, a previously uncharacterized mouse mutation, reveals crucial roles for fatty acid transport protein 4 in skin and hair development. 57 61
12697906 2003
13
Restrictive dermopathy: report and review. 61 57
9217218 1997
14
Historical note on restrictive dermopathy and report of two new cases. 57 61
8291564 1993
15
Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression. 61 57
8131298 1993
16
Restrictive dermopathy: a lethal congenital skin disorder. 61 57
8444237 1993
17
Restrictive dermopathy: a disorder of fibroblasts. 61 57
1476923 1992
18
False-negative prenatal diagnosis of restrictive dermopathy. 57 61
1481855 1992
19
Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. 57 61
1605246 1992
20
Restrictive dermopathy in two brothers. 61 57
1739303 1992
21
Restrictive dermopathy with distinct morphological abnormalities. 57 61
2363426 1990
22
Restrictive dermopathy: a report of three cases. 61 57
2352259 1990
23
Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). 57 61
2434579 1987
24
Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. 61 57
2426945 1986
25
Restrictive dermopathy and report of another case. 61 57
3740097 1986
26
Truncated prelamin A expression in HGPS-like patients: a transcriptional study. 6
25649378 2015
27
Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. 6
19172989 2009
28
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. 6
17469202 2007
29
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. 6
16738054 2006
30
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. 6
16126733 2005
31
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. 6
15793835 2005
32
Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome. 6
15342704 2004
33
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. 6
15184648 2004
34
Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. 6
15032975 2004
35
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 6
12913070 2003
36
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. 6
12714972 2003
37
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 6
12768443 2003
38
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. 6
11799477 2002
39
Aplasia cutis congenita in two sibs discordant for pyloric atresia. 57
6177243 1982
40
Restrictive Dermopathy - A Rare Congenital Skin Disorder. 61
33487711 2020
41
Neonatal presentation of COG6-CDG with prominent skin phenotype. 61
32905044 2020
42
Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome. 61
31903955 2019
43
Teledermatology diagnosis of the first Italian patient affected with restrictive dermopathy due to ZMPSTE24 homozygous mutation. 61
30461078 2019
44
Restrictive Dermopathy: Four Case Reports and Structural Skin Changes. 61
29774364 2018
45
Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model. 61
28915122 2018
46
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability. 61
29794150 2018
47
Lamins and bone disorders: current understanding and perspectives. 61
29854317 2018
48
Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. 61
28336317 2017
49
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 61
28050601 2017
50
Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings. 61
29894032 2016

Variations for Restrictive Dermopathy, Lethal

ClinVar genetic disease variations for Restrictive Dermopathy, Lethal:

6 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMPSTE24 NM_005857.5(ZMPSTE24):c.584_585del (p.Tyr195fs) Deletion Pathogenic 41412 rs786205123 GRCh37: 1:40735755-40735756
GRCh38: 1:40270083-40270084
2 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1060-6_1085del Deletion Pathogenic 801467 rs1569668526 GRCh37: 1:40756519-40756550
GRCh38: 1:40290847-40290878
3 ZMPSTE24 NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs) Duplication Pathogenic 30584 rs281875361 GRCh37: 1:40723996-40723997
GRCh38: 1:40258324-40258325
4 ZMPSTE24 NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter) SNV Pathogenic 4276 rs267607181 GRCh37: 1:40737653-40737653
GRCh38: 1:40271981-40271981
5 ZMPSTE24 NM_005857.5(ZMPSTE24):c.591dup (p.Ile198fs) Duplication Pathogenic 30585 rs281875367 GRCh37: 1:40735756-40735757
GRCh38: 1:40270084-40270085
6 LMNA NM_170707.4(LMNA):c.1968+1G>A SNV Pathogenic 66879 rs113436208 GRCh37: 1:156108549-156108549
GRCh38: 1:156138758-156138758
7 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
8 ZMPSTE24 NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs) Deletion Pathogenic 41411 rs281875360 GRCh37: 1:40723992-40723992
GRCh38: 1:40258320-40258320
9 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
10 ZMPSTE24 NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) Duplication Pathogenic 4271 rs137854889 GRCh37: 1:40756542-40756543
GRCh38: 1:40290870-40290871
11 LMNA NM_170707.4(LMNA):c.1824C>T (p.Gly608=) SNV Pathogenic 14500 rs58596362 GRCh37: 1:156108404-156108404
GRCh38: 1:156138613-156138613
12 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
13 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
14 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) SNV Uncertain significance 876056 GRCh37: 1:40758172-40758172
GRCh38: 1:40292500-40292500
15 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
16 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Uncertain significance 163878 rs142191737 GRCh37: 1:156107470-156107470
GRCh38: 1:156137679-156137679
17 LMNA NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) SNV Uncertain significance 48045 rs201583907 GRCh37: 1:156106982-156106982
GRCh38: 1:156137191-156137191
18 LMNA NM_170707.4(LMNA):c.1931G>A (p.Arg644His) SNV Uncertain significance 161291 rs368386019 GRCh37: 1:156108511-156108511
GRCh38: 1:156138720-156138720
19 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) SNV Uncertain significance 48063 rs397517901 GRCh37: 1:156085059-156085059
GRCh38: 1:156115268-156115268
20 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV Uncertain significance 292834 rs886045363 GRCh37: 1:156085003-156085003
GRCh38: 1:156115212-156115212
21 LMNA NM_170707.4(LMNA):c.514-11C>T SNV Uncertain significance 292836 rs886045365 GRCh37: 1:156104183-156104183
GRCh38: 1:156134392-156134392
22 LMNA NM_170707.4(LMNA):c.936+12C>T SNV Uncertain significance 292837 rs199881992 GRCh37: 1:156105115-156105115
GRCh38: 1:156135324-156135324
23 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
24 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain significance 200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
25 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain significance 222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
26 LMNA NM_170707.4(LMNA):c.1488+14C>T SNV Uncertain significance 178061 rs377700689 GRCh37: 1:156106833-156106833
GRCh38: 1:156137042-156137042
27 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Uncertain significance 200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
28 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain significance 242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
29 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
30 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
31 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain significance 292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
32 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
33 LMNA NM_170707.4(LMNA):c.1324G>A (p.Val442Met) SNV Uncertain significance 519022 rs368542816 GRCh37: 1:156106171-156106171
GRCh38: 1:156136380-156136380
34 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain significance 586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
35 LMNA NM_170707.4(LMNA):c.1227A>G (p.Thr409=) SNV Uncertain significance 698186 rs762130433 GRCh37: 1:156106074-156106074
GRCh38: 1:156136283-156136283
36 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain significance 876083 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
37 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Uncertain significance 570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
38 LMNA NM_170707.4(LMNA):c.-44T>A SNV Uncertain significance 873801 GRCh37: 1:156084666-156084666
GRCh38: 1:156114875-156114875
39 LMNA NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) SNV Uncertain significance 14490 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
40 LMNA NM_170707.4(LMNA):c.1698+83G>A SNV Uncertain significance 875382 GRCh37: 1:156107617-156107617
GRCh38: 1:156137826-156137826
41 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain significance 875747 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
42 LMNA NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) SNV Uncertain significance 874034 GRCh37: 1:156104752-156104752
GRCh38: 1:156134961-156134961
43 LMNA NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) SNV Uncertain significance 224680 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
44 LMNA NM_170707.4(LMNA):c.-183C>A SNV Uncertain significance 292826 rs886045357 GRCh37: 1:156084527-156084527
GRCh38: 1:156114736-156114736
45 ZMPSTE24 NM_005857.5(ZMPSTE24):c.-13G>A SNV Uncertain significance 297258 rs140415968 GRCh37: 1:40723931-40723931
GRCh38: 1:40258259-40258259
46 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1028G>A (p.Gly343Glu) SNV Uncertain significance 875107 GRCh37: 1:40751670-40751670
GRCh38: 1:40285998-40285998
47 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*710T>C SNV Uncertain significance 875155 GRCh37: 1:40759051-40759051
GRCh38: 1:40293379-40293379
48 ZMPSTE24 NM_005857.5(ZMPSTE24):c.52C>T (p.Arg18Cys) SNV Uncertain significance 875987 GRCh37: 1:40723995-40723995
GRCh38: 1:40258323-40258323
49 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1165T>C (p.Leu389=) SNV Uncertain significance 725823 rs138014589 GRCh37: 1:40756631-40756631
GRCh38: 1:40290959-40290959
50 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1277G>A (p.Gly426Glu) SNV Uncertain significance 876057 GRCh37: 1:40758190-40758190
GRCh38: 1:40292518-40292518

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:

36
# 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 integral component of membrane GO:0016021 9.96 ZMPSTE24 SLC27A6 SLC27A4 SLC27A2 SLC27A1 RCE1
2 endoplasmic reticulum membrane GO:0005789 9.43 ZMPSTE24 SLC27A4 SLC27A2 RCE1 ICMT DHCR24
3 integral component of endoplasmic reticulum membrane GO:0030176 9.33 ZMPSTE24 SLC27A2 RCE1
4 endoplasmic reticulum GO:0005783 9.17 ZMPSTE24 SLC27A4 SLC27A2 SLC27A1 RCE1 ICMT

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 SLC27A6 SLC27A4 SLC27A2 SLC27A1 DHCR24
2 fatty acid metabolic process GO:0006631 9.73 SLC27A6 SLC27A4 SLC27A2 SLC27A1
3 lipid transport GO:0006869 9.7 SLC27A6 SLC27A4 SLC27A1
4 skin development GO:0043588 9.56 SLC27A4 DHCR24
5 nucleus organization GO:0006997 9.55 ZMPSTE24 LMNA
6 nuclear envelope organization GO:0006998 9.54 ZMPSTE24 LMNA
7 very long-chain fatty acid metabolic process GO:0000038 9.5 SLC27A6 SLC27A4 SLC27A2
8 very long-chain fatty acid catabolic process GO:0042760 9.49 SLC27A4 SLC27A2
9 lipid transport across blood brain barrier GO:1990379 9.48 SLC27A4 SLC27A1
10 glucose import in response to insulin stimulus GO:0044381 9.46 SLC27A4 SLC27A1
11 long-chain fatty acid transport GO:0015909 9.43 SLC27A6 SLC27A4 SLC27A1
12 CAAX-box protein processing GO:0071586 9.4 ZMPSTE24 RCE1
13 medium-chain fatty acid transport GO:0001579 9.37 SLC27A4 SLC27A1
14 long-chain fatty acid import GO:0044539 9.33 SLC27A4 SLC27A2 SLC27A1
15 long-chain fatty acid metabolic process GO:0001676 9.26 SLC27A6 SLC27A4 SLC27A2 SLC27A1
16 fatty acid transport GO:0015908 8.92 SLC27A6 SLC27A4 SLC27A2 SLC27A1

Molecular functions related to Restrictive Dermopathy, Lethal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.73 SLC27A6 SLC27A4 SLC27A2 SLC27A1
2 ligase activity GO:0016874 9.62 SLC27A6 SLC27A4 SLC27A2 SLC27A1
3 long-chain fatty acid-CoA ligase activity GO:0004467 9.56 SLC27A6 SLC27A4 SLC27A2 SLC27A1
4 long-chain fatty acid transporter activity GO:0005324 9.46 SLC27A6 SLC27A4 SLC27A2 SLC27A1
5 fatty acid transmembrane transporter activity GO:0015245 9.4 SLC27A2 SLC27A1
6 oleoyl-CoA ligase activity GO:0090434 9.37 SLC27A4 SLC27A1
7 arachidonate-CoA ligase activity GO:0047676 9.26 SLC27A6 SLC27A4 SLC27A2 SLC27A1
8 very long-chain fatty acid-CoA ligase activity GO:0031957 8.92 SLC27A6 SLC27A4 SLC27A2 SLC27A1

Sources for Restrictive Dermopathy, Lethal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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