MCID: TGH001
MIFTS: 31

Tight Skin Contracture Syndrome, Lethal malady

Fetal, Skin categories

Summaries for Tight Skin Contracture Syndrome, Lethal

Sources:
47OMIM, 33MalaCards
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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 large fontanelle/delayed fontanelle closure, micrognathia/retrognathia/micrognathism/retrognathism and ectropion/entropion/eyelid eversion. 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, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Description from OMIM:47 275210

Aliases & Classifications for Tight Skin Contracture Syndrome, Lethal

Sources:
43NIH Rare Diseases, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 22
restrictive dermopathy, lethal 43 47
fetal hypokinesia sequence due to restrictive dermopathy 43
lethal tight skin contracture syndrome 61
hyperkeratosis-contracture syndrome 43
lethal restrictive dermopathy 49


External Ids:

OMIM47 275210
ICD10 via Orphanet26 Q82.8

Related Diseases for Tight Skin Contracture Syndrome, Lethal

Sources:
17GeneCards, 18GeneDecks
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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 dysplasia10.0ZMPSTE24, LMNA
6congenital generalized lipodystrophy type 210.0ZMPSTE24, LMNA
7lipodystrophy10.0ZMPSTE24, LMNA
8progeria10.0ZMPSTE24, LMNA

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

275210

Clinical synopsis from OMIM:

275210

Symptoms:

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

Drugs & Therapeutics for Tight Skin Contracture Syndrome, Lethal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Tight Skin Contracture Syndrome, Lethal

Sources:
22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Tight Skin Contracture Syndrome, Lethal:

33
Skin

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

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Tight Skin Contracture Syndrome, Lethal:

37
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

Genetic Variations for Tight Skin Contracture Syndrome, Lethal

Expression for genes affiliated with Tight Skin Contracture Syndrome, Lethal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database
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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

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Tight Skin Contracture Syndrome, Lethal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 2410.1LMNA, ZMPSTE24
2cholesterol45 29 11 2411.8LMNA, ZMPSTE24

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

Products for genes affiliated with Tight Skin Contracture Syndrome, Lethal

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tight Skin Contracture Syndrome, Lethal

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet