MCID: TGH001
MIFTS: 39

Tight Skin Contracture Syndrome, Lethal malady

Rare diseases, Fetal diseases, Skin diseases categories

Summaries for Tight Skin Contracture Syndrome, Lethal

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48OMIM, 34MalaCards
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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 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 limbs/digits/tail and adipose tissue.

Description from OMIM:48 275210

Aliases & Classifications for Tight Skin Contracture Syndrome, Lethal

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Sources:
44NIH Rare Diseases, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
lethal restrictive dermopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

tight skin contracture syndrome, lethal 44 23
restrictive dermopathy, lethal 44 48
fetal hypokinesia sequence due to restrictive dermopathy 44
lethal tight skin contracture syndrome 63
hyperkeratosis-contracture syndrome 44
lethal restrictive dermopathy 50


External Ids:

SNOMED-CT via Orphanet60 400128006
OMIM48 275210
ICD10 via Orphanet27 Q82.8
UMLS via Orphanet64 C0406585

Related Diseases for Tight Skin Contracture Syndrome, Lethal

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18GeneCards, 19GeneDecks
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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
3congenital generalized lipodystrophy type 210.0ZMPSTE24, LMNA
4lipodystrophy10.0LMNA, ZMPSTE24
5mandibuloacral dysplasia10.0LMNA, ZMPSTE24
6progeria9.9ZMPSTE24, LMNA

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



Diseases related to tight skin contracture syndrome, lethal

Symptoms for Tight Skin Contracture Syndrome, Lethal

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

275210

Clinical features from OMIM:

275210

Symptoms:

50 (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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Tight Skin Contracture Syndrome, Lethal

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Genetic Tests for Tight Skin Contracture Syndrome, Lethal

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23GTR
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Genetic tests related to Tight Skin Contracture Syndrome, Lethal:

id Genetic test Affiliating Genes
1 Lethal Tight Skin Contracture Syndrome23

Anatomical Context for Tight Skin Contracture Syndrome, Lethal

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Sources:
34MalaCards
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MalaCards organs/tissues related to Tight Skin Contracture Syndrome, Lethal:

34
Skin, Lung, Adrenal gland, Heart, Bone

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

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38MGI
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MGI Mouse Phenotypes related to Tight Skin Contracture Syndrome, Lethal:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1ZMPSTE24, LMNA
2MP:00053758.8ZMPSTE24, LMNA

Publications for Tight Skin Contracture Syndrome, Lethal

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Variations for Tight Skin Contracture Syndrome, Lethal

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Tight Skin Contracture Syndrome, Lethal:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
2LMNALMNA, IVS11, G-A, +1single nucleotide variantPathogenic
3ZMPSTE24NM_005857.4(ZMPSTE24): c.54dupT (p.Ile19Tyrfs)duplicationPathogenicrs281875361GRCh37Chr 1, 40723997: 40723998
4ZMPSTE24NM_005857.4(ZMPSTE24): c.591dupT (p.Ile198Tyrfs)duplicationPathogenicrs281875367GRCh37Chr 1, 40735763: 40735764
5ZMPSTE24ZMPSTE24, 1-BP DEL, 50AdeletionPathogenic
6ZMPSTE24ZMPSTE24, 2-BP DEL, 584ATdeletionPathogenic
7ZMPSTE24NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756552
8ZMPSTE24NM_005857.4(ZMPSTE24): c.715G> T (p.Glu239Ter)single nucleotide variantPathogenicrs267607181GRCh37Chr 1, 40737653: 40737653

Expression for genes affiliated with Tight Skin Contracture Syndrome, Lethal

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Sources:
2BioGPS, 16Gene 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

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Sources:
51PathCards, 39NCBI 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
19.1ZMPSTE24, LMNA

Compounds for genes affiliated with Tight Skin Contracture Syndrome, Lethal

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Tight Skin Contracture Syndrome, Lethal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc46 2510.1ZMPSTE24, LMNA
2cholesterol46 30 25 1211.8ZMPSTE24, LMNA

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

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Products for genes affiliated with Tight Skin Contracture Syndrome, Lethal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tight Skin Contracture Syndrome, Lethal

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet