MCID: TGH001
MIFTS: 39

Tight Skin Contracture Syndrome, Lethal malady

Rare diseases, Fetal diseases, Skin diseases categories
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Summaries for Tight Skin Contracture Syndrome, Lethal

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MalaCards based summary: Tight Skin Contracture Syndrome, Lethal, also known as fetal hypokinesia sequence due to restrictive dermopathy, 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, lung and bone, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

Description from OMIM:46 275210

Aliases & Classifications for Tight Skin Contracture Syndrome, Lethal

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Sources:
42NIH Rare Diseases, 22GTR, 62UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Tight Skin Contracture Syndrome, Lethal, Aliases & Descriptions:

Name: Tight Skin Contracture Syndrome, Lethal 42 22
Fetal Hypokinesia Sequence Due to Restrictive Dermopathy 42 62
Restrictive Dermopathy, Lethal 42 46
 
Lethal Tight Skin Contracture Syndrome 62
Hyperkeratosis-Contracture Syndrome 42
Lethal Restrictive Dermopathy 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 275210
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0406585

Related Diseases for Tight Skin Contracture Syndrome, Lethal

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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 29.9ZMPSTE24, LMNA
4lipodystrophy9.9ZMPSTE24, LMNA
5mandibuloacral dysplasia9.8LMNA, ZMPSTE24
6progeria9.8ZMPSTE24, 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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Symptoms by clinical synopsis from OMIM:

275210

Clinical features from OMIM:

275210

Symptoms:

48 (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

HPO human phenotypes related to Tight Skin Contracture Syndrome, Lethal:

(show all 74)
id Description Frequency HPO Source Accession
1 narrow mouth hallmark (90%) HP:0000160
2 abnormality of the teeth hallmark (90%) HP:0000164
3 open mouth hallmark (90%) HP:0000194
4 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
5 micrognathia hallmark (90%) HP:0000347
6 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
7 abnormality of the eyelashes hallmark (90%) HP:0000499
8 limitation of joint mobility hallmark (90%) HP:0001376
9 respiratory insufficiency hallmark (90%) HP:0002093
10 short nose hallmark (90%) HP:0003196
11 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
12 external ear malformation hallmark (90%) HP:0008572
13 rough bone trabeculation hallmark (90%) HP:0100670
14 lack of skin elasticity hallmark (90%) HP:0100679
15 cleft palate typical (50%) HP:0000175
16 abnormality of the eye typical (50%) HP:0000478
17 abnormality of the eyebrow typical (50%) HP:0000534
18 blepharophimosis typical (50%) HP:0000581
19 abnormality of the adrenal glands typical (50%) HP:0000834
20 abnormality of the clavicles typical (50%) HP:0000889
21 abnormal diaphysis morphology typical (50%) HP:0000940
22 hyperkeratosis typical (50%) HP:0000962
23 polyhydramnios typical (50%) HP:0001561
24 defect in the atrial septum typical (50%) HP:0001631
25 patent ductus arteriosus typical (50%) HP:0001643
26 scoliosis typical (50%) HP:0002650
27 kyphosis typical (50%) HP:0002808
28 congenital, generalized hypertrichosis typical (50%) HP:0004540
29 camptodactyly of finger typical (50%) HP:0100490
30 displacement of the external urethral meatus typical (50%) HP:0100627
31 situs inversus totalis occasional (7.5%) HP:0001696
32 dilatation of the ascending aorta occasional (7.5%) HP:0005111
33 autosomal recessive inheritance HP:0000007
34 hypospadias HP:0000047
35 ureteral duplication HP:0000073
36 narrow mouth HP:0000160
37 submucous cleft hard palate HP:0000176
38 large fontanelles HP:0000239
39 hypertelorism HP:0000316
40 micrognathia HP:0000347
41 low-set ears HP:0000369
42 abnormality of the pinna HP:0000377
43 narrow nasal ridge HP:0000418
44 choanal atresia HP:0000453
45 blepharophimosis HP:0000581
46 entropion HP:0000621
47 sparse eyelashes HP:0000653
48 natal tooth HP:0000695
49 adrenal hypoplasia HP:0000835
50 short umbilical cord HP:0001196
51 flexion contracture HP:0001371
52 heterogeneous HP:0001425
53 intrauterine growth retardation HP:0001511
54 decreased fetal movement HP:0001558
55 polyhydramnios HP:0001561
56 premature birth HP:0001622
57 defect in the atrial septum HP:0001631
58 patent ductus arteriosus HP:0001643
59 premature rupture of membranes HP:0001788
60 short nail HP:0001799
61 rocker bottom foot HP:0001838
62 pulmonary hypoplasia HP:0002089
63 kyphoscoliosis HP:0002751
64 increased anterioposterior diameter of thorax HP:0005253
65 decreased calvarial ossification HP:0005474
66 overtubulated long bones HP:0006391
67 congenital pseudarthrosis of the clavicle HP:0006585
68 thin clavicles HP:0006645
69 prominent superficial blood vessels HP:0007394
70 epidermal hyperkeratosis HP:0007543
71 hydropic placenta HP:0011414
72 short palpebral fissure HP:0012745
73 aplasia/hypoplasia of the eyebrow HP:0100840
74 skin erosion HP:0200041

Drugs & Therapeutics for Tight Skin Contracture Syndrome, Lethal

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Drug clinical trials:

Search ClinicalTrials for Tight Skin Contracture Syndrome, Lethal

Search NIH Clinical Center for Tight Skin Contracture Syndrome, Lethal

Genetic Tests for Tight Skin Contracture Syndrome, Lethal

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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

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

32
Skin, Lung, Bone, Heart, Adrenal gland

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

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

36
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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Clinvar genetic disease variations for Tight Skin Contracture Syndrome, Lethal:

6
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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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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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:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Tight Skin Contracture Syndrome, Lethal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2410.1ZMPSTE24, LMNA
2cholesterol44 28 24 1111.8ZMPSTE24, 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

Sources for Tight Skin Contracture Syndrome, Lethal

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet