MCID: TGH001
MIFTS: 39

Tight Skin Contracture Syndrome, Lethal malady

Fetal diseases, Skin diseases categories

Summaries for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Tight Skin Contracture Syndrome, Lethal, also known as restrictive dermopathy, lethal, is related to lethal restrictive dermopathy, lmna-related and lethal restrictive dermopathy, zmpste24-related, and has symptoms including hypospadias/epispadias/bent penis, hyperkeratosis/ainhum/hyperkeratotic skin fissures and complete claw hand/camptodactyly of all fingers. An important gene associated with Tight Skin Contracture Syndrome, Lethal is ZMPSTE24 (zinc metallopeptidase STE24), and among its related pathways is Adipogenesis. The compounds zinc and cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and adrenal gland, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Description from OMIM:46 275210

Aliases & Classifications for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
lethal restrictive dermopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

tight skin contracture syndrome, lethal 42 22
restrictive dermopathy, lethal 42 46
fetal hypokinesia sequence due to restrictive dermopathy 42
lethal tight skin contracture syndrome 60
hyperkeratosis-contracture syndrome 42
lethal restrictive dermopathy 48


External Ids:

SNOMED-CT via Orphanet57 400128006
OMIM46 275210
ICD10 via Orphanet26 Q82.8

Related Diseases for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Tight Skin Contracture Syndrome, Lethal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lethal restrictive dermopathy, lmna-related10.4
2lethal restrictive dermopathy, zmpste24-related10.4
3calcinosis10.0LMNA
4arthropathy10.0ZMPSTE24
5mandibuloacral dysplasia10.0LMNA, ZMPSTE24
6congenital generalized lipodystrophy type 210.0LMNA, ZMPSTE24
7lipodystrophy10.0LMNA, ZMPSTE24
8progeria10.0LMNA, ZMPSTE24

Graphical network of diseases related to Tight Skin Contracture Syndrome, Lethal:



Diseases related to tight skin contracture syndrome, lethal

Clinical Features for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

275210

Clinical synopsis from OMIM:

275210

Symptoms:

48 (show all 40)
  • hypospadias/epispadias/bent penis
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • complete claw hand/camptodactyly of all fingers
  • scoliosis
  • kyphosis
  • clavicle absent/abnormal
  • anomalies of chest/thorax/trunk
  • lanugo
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • bladder and ureter anomalies
  • adrenal glands anomalies
  • diaphyseal anomaly
  • polyhydramnios
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • aortic root dilatation/dilation/aneurysm
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • blepharophimosis/short palpebral fissures
  • low set ears/posteriorly rotated ears
  • external ear anomalies
  • anomalies of teeth and dentition
  • mouth held open
  • microstomia/little mouth
  • short/small nose
  • absent/decreased lashes
  • ectropion/entropion/eyelid eversion
  • micrognathia/retrognathia/micrognathism/retrognathism
  • thick skin/pachydermia/orange skin
  • tight skin/lack of elasticity
  • anomalies of eyelids, eyelashes and lacrimal system
  • eyebrows anomalies
  • stillbirth/neonatal death
  • early death/lethality
  • autosomal recessive inheritance
  • restricted joint mobility/joint stiffness/ankylosis
  • rough trabeculation of bone
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Tight Skin Contracture Syndrome, Lethal

Drug clinical trials:

Search ClinicalTrials for Tight Skin Contracture Syndrome, Lethal

Search NIH Clinical Center for Tight Skin Contracture Syndrome, Lethal

Search CenterWatch for Tight Skin Contracture Syndrome, Lethal

Genetic Tests for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
22GTR
See all sources

Genetic tests related to Tight Skin Contracture Syndrome, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome22

Anatomical Context for Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Tight Skin Contracture Syndrome, Lethal:

32
Skin, Lung, Adrenal gland, Heart, Bone

Animal Models for Tight Skin Contracture Syndrome, Lethal or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Tight Skin Contracture Syndrome, Lethal:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2LMNA, ZMPSTE24
2MP:00053719.1LMNA, ZMPSTE24
3MP:00053679.1LMNA, ZMPSTE24
4MP:00053829.0ZMPSTE24, LMNA
5MP:00053708.8LMNA, ZMPSTE24

Publications for Tight Skin Contracture Syndrome, Lethal

About this section

Genetic Variations for Tight Skin Contracture Syndrome, Lethal

About this section

Expression for genes affiliated with Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tight Skin Contracture Syndrome, Lethal

Search GEO for disease gene expression data for Tight Skin Contracture Syndrome, Lethal.

Pathways for genes affiliated with Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
37NCBI BioSystems Database
See all sources

Pathways related to Tight Skin Contracture Syndrome, Lethal according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LMNA, ZMPSTE24

Compounds for genes affiliated with Tight Skin Contracture Syndrome, Lethal

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Tight Skin Contracture Syndrome, Lethal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1LMNA, ZMPSTE24
2cholesterol44 28 11 2411.8LMNA, ZMPSTE24

GO Terms for genes affiliated with Tight Skin Contracture Syndrome, Lethal

About this section

Products for genes affiliated with Tight Skin Contracture Syndrome, Lethal

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tight Skin Contracture Syndrome, Lethal

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet