MCID: CTS001
MIFTS: 55

Cutis Laxa malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Neuronal diseases, Eye diseases, Bone diseases categories

Summaries for Cutis Laxa

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy.Ā the skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.Ā there are several different forms of cutis laxa, which are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or x-linked. in general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. the x-linked form of cutis laxa is often called occipital horn syndrome. click on the links below to view information about the different types of cutis laxa.cutis laxa, autosomal dominantcutis laxa, autosomal recessive type 1cutis laxa, autosomal recessive type 2acutis laxa, autosomal recessive type 2boccipital horn syndrome last updated: 6/16/2011

MalaCards: Cutis Laxa, also known as generalized elastolysis, is related to fbln5-related cutis laxa and costello syndrome, and has symptoms including craniostenosis/craniosynostosis/sutural synostosis, ventricular septal defect/interventricular communication and large fontanelle/delayed fontanelle closure. An important gene associated with Cutis Laxa is FBLN5 (fibulin 5), and among its related pathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include skin, lung and heart, and related mouse phenotypes are cardiovascular system and respiratory system.

Wikipedia:66 Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized... more...

Aliases & Classifications for Cutis Laxa

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
cutis laxa:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive


Aliases & Descriptions:

cutis laxa 9 44 22 11 46 50 63
generalized elastolysis 44
dermatomegaly 22
dermatolysis 22
loose skin 9


External Ids:

Disease Ontology9 DOID:3144
NCIt41 C84663
MeSH36 D003483
MESH via Orphanet37 D003483
SNOMED-CT59 238825007, 58588007
ICD10 via Orphanet27 Q82.8
SNOMED-CT via Orphanet60 58588007
UMLS via Orphanet64 C0010495

Related Diseases for Cutis Laxa

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18GeneCards, 19GeneDecks
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Diseases in the Atp6v0a2-Related Cutis Laxa family:

cutis laxa Efemp2-Related Cutis Laxa
Fbln5-Related Cutis Laxa Eln-Related Cutis Laxa
Pycr1-Related Cutis Laxa Aldh18a1-Related Cutis Laxa
Cutis Laxa, Ad Acquired Cutis Laxa

Diseases related to Cutis Laxa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 119)
idRelated DiseaseScoreTop Affiliating Genes
1fbln5-related cutis laxa31.1FBLN5
2costello syndrome30.7ELN
3pulmonary emphysema30.6ELN, LTBP4
4supravalvular aortic stenosis30.2ELN, FBLN5
5acquired cutis laxa11.0
6atp6v0a2-related cutis laxa10.8
7myeloma10.7
8multiple myeloma10.7
9cutis laxa, autosomal recessive type 2b10.7
10cutis laxa, autosomal recessive, type ia10.7
11efemp2-related cutis laxa10.6
12cutis laxa, ad10.6
13amyloidosis10.6
14macrocephaly, alopecia, cutis laxa, and scoliosis10.6
15cutis laxa, autosomal recessive, type iiia10.6
16cutis laxa, autosomal recessive, type ic10.6
17pseudoxanthoma elasticum10.5
18ehlers-danlos syndrome10.5
19de barsy syndrome10.5
20cutis laxa, autosomal recessive, type iiib10.5
21cutis laxa, autosomal dominant10.4
22elastosis perforans serpiginosa10.4
23occipital horn syndrome10.4
24cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities10.4
25cutis laxa, autosomal dominant 210.4
26cutis laxa-marfanoid syndrome10.4
27dysmorphism cleft palate loose skin10.4
28urticaria10.4
29wrinkly skin syndrome10.4
30pycr1-related cutis laxa10.4
31age related macular degeneration10.3
32aortic aneurysm10.3
33dermatitis10.3
34entropion10.3
35cutis laxa osteoporosis10.3
36familial amyloidosis, finnish type10.3
37scarf syndrome10.3
38skeletal dysplasias10.3
39eln-related cutis laxa10.3
40aldh18a1-related cutis laxa10.3
41mental retardation10.3
42aneurysm10.3
43heavy chain deposition disease10.3
44weaver syndrome10.2
45lenz majewski hyperostotic dwarfism10.2
46thanatophoric dysplasia type 110.2
47bone fracture10.1
48wrinkles10.1
49menkes disease10.1
50blepharochalasis10.1

Graphical network of the top 20 diseases related to Cutis Laxa:



Diseases related to cutis laxa

Symptoms for Cutis Laxa

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50Orphanet
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Symptoms:

50 (show all 76)
  • craniostenosis/craniosynostosis/sutural synostosis
  • ventricular septal defect/interventricular communication
  • large fontanelle/delayed fontanelle closure
  • excess nuchal skin without pterygium colli
  • premature ageing
  • vesicorenal/vesicoureteral reflux
  • intrauterine growth retardation
  • flattened nose
  • telecanthus/canthal dystopy
  • atrial septal defect/interauricular communication
  • x-linked recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • microstomia/little mouth
  • recurrent urinary infections
  • urticaria
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • joint dislocation/subluxation
  • loose skin/skin relaxation/excess skin/creases
  • macular coloboma
  • esophageal diverticulum/pouch
  • rippled skin
  • genital prolapse
  • hyperleukocytosis/leukocytosis
  • anomalies of nose and olfaction
  • bronchial dilation/dilatation/bronchiectasia
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • plagiocephaly
  • turricephaly/oxycephaly/acrocephaly
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • eczema
  • anomalies of mouth, lip and philtrum
  • colonic/intestinal/bowel diverticulosis/diverticulitis
  • anus ectopia/anteposition/malposition
  • patent ductus arteriosus
  • frontal bossing/prominent forehead
  • encopresis/fecal incontinence
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypothyroidy
  • hydrocephaly
  • hypotonia
  • muscle weakness/flaccidity
  • inguinal/inguinoscrotal/crural hernia
  • anomalies of skin, subcutaneous tissue and mucosae
  • high vaulted/narrow palate
  • ptosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypertelorism
  • low set ears/posteriorly rotated ears
  • short neck
  • pectus excavatum
  • autosomal recessive inheritance
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • long philtrum
  • micrognathia/retrognathia/micrognathism/retrognathism
  • exostoses
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • cardiac valvulopathy
  • epicanthic folds
  • tight skin/lack of elasticity
  • mid-facial hypoplasia/short/small midface
  • emphysema
  • absent/hypotonic/flaccid abdominal wall muscles
  • short/small nose
  • metabolic anomalies
  • multiple caries
  • pectus carinatum
  • malabsorption/chronic diarrhea/steatorrhea
  • retinitis pigmentosa/retinal pigmentary changes
  • anteverted nares/nostrils
  • short stature/dwarfism/nanism
  • heart/cardiac failure

Drugs & Therapeutics for Cutis Laxa

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Cutis Laxa

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Search CenterWatch for Cutis Laxa

Genetic Tests for Cutis Laxa

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Anatomical Context for Cutis Laxa

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34MalaCards
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MalaCards organs/tissues related to Cutis Laxa:

34
Skin, Lung, Heart, Colon, Tongue, Brain, Bone, Skeletal muscle, T cells

Animal Models for Cutis Laxa or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Cutis Laxa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3LTBP4, ELN, EFEMP2, FBLN5
2MP:00053888.2LTBP4, ELN, EFEMP2, FBLN5
3MP:00053698.0FBLN5, EFEMP2, ELN, LTBP4

Publications for Cutis Laxa

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53PubMed
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Articles related to Cutis Laxa:

(show top 50)    (show all 307)
idTitleAuthorsYear
1
Acral localized acquired cutis laxa. (23675943)
2013
2
Oculoplastic approach to congenital cutis laxa syndrome. (23443999)
2013
3
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. (22573328)
2012
4
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. (21204221)
2011
5
Cardiovascular complications of cutis laxa syndrome: successful diagnosis and surgical management. (21730323)
2011
6
Ultrastructural demonstration of a relationship between acquired cutis laxa and monoclonal gammopathy. (20574607)
2010
7
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case. (20613779)
2010
8
Clinical presentation of a patient with localized acquired cutis laxa of abdomen: a case report. (20585600)
2010
9
Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa. (20007835)
2010
10
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (19576563)
2009
11
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (19171192)
2009
12
Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma. (19467378)
2009
13
A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model. (18185537)
2008
14
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. (17937443)
2007
15
Acquired cephalic cutis laxa. (18328225)
2007
16
Localized acquired cutis laxa associated with trachyonychia]. (16476396)
2005
17
A case of congenital cutis laxa (generalized elastolysis). (15875069)
2005
18
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
19
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. (12618961)
2003
20
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
21
Cutis laxa and pulmonary emphysema. (18610669)
2001
22
Bilateral eyelid edema: cutis laxa or blepharochalasis? (11092366)
2000
23
Collagenase gene expression in cutis laxa fibroblasts is upregulated by transcriptional activation of the promoter gene through a 12-0-tetradecanoyl-phorbol-13-acetate (TPA)-responsive element. (8617996)
1996
24
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. (7884000)
1995
25
Acquired cutis laxa associated with chronic urticaria. (7593805)
1995
26
Acquired localized cutis laxa due to cutaneous lymphoplasmacytoid lymphoma. (7826089)
1995
27
Cutis laxa: a feature of Costello syndrome. (7512146)
1994
28
Are X-linked cutis laxa and Menkes disease allelic? (8490656)
1993
29
Cutis laxa and the Costello syndrome. (8411045)
1993
30
Acquired cutis laxa confined to the face. (2061455)
1991
31
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. (1700609)
1990
32
Localized acquired cutis laxa in one of identical twins. (2767840)
1989
33
Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide. (3360789)
1988
34
Elastase-like protease and elastolytic activities expressed in cultured dermal fibroblasts derived from lesional skin of patients with pseudoxanthoma elasticum, actinic elastosis, and cutis laxa. (3180471)
1988
35
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. (3232707)
1988
36
Acquired cutis laxa concomitant with nephrotic syndrome. (3307640)
1987
37
Collagen studies in congenital cutis laxa. (3632035)
1987
38
Variable clinical presentation of cutis laxa. (4064367)
1985
39
Congenital cutis laxa and osteoporosis. (6846273)
1983
40
Fatal cardiovascular disease and cutis laxa following acute febrile neutrophilic dermatosis. (6822929)
1983
41
Cutis laxa. (7232253)
1981
42
Cutis laxa. Ultrastructural and biochemical studies. (1147631)
1975
43
Cutis laxa and associated anomalies. (1227523)
1975
44
Progressive pulmonary emphysema associated with congenital generalized elastolysis (cutis laxa). (4428056)
1974
45
Cutis laxa-a heterogeneous disorder. (4462624)
1974
46
The physical properties of skin in cutis laxa. (5057387)
1972
47
Cutis laxa. (4105786)
1971
48
Cutis laxa. A report of three cases. (5570257)
1971
49
Tracheobronchiomegaly and acquired cutis laxa in a child. Physiologic and immunologic studies. (4192682)
1969
50
Postinflammatory elastolysis and cutis laxa. A report on a new variety of this phenomenon and a discussion of some syndromes characterized by elastolysis. (5926113)
1966

Variations for Cutis Laxa

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Expression for genes affiliated with Cutis Laxa

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cutis Laxa

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Pathways for genes affiliated with Cutis Laxa

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51PathCards, 54QIAGEN, 56Reactome
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Pathways related to Cutis Laxa according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7LTBP4, ELN, EFEMP2
2
Show member pathways
8.7LTBP4, ELN, EFEMP2
3
Show member pathways
8.3FBLN5, EFEMP2, ELN, LTBP4
4
Show member pathways
8.3LTBP4, ELN, EFEMP2, FBLN5

Compounds for genes affiliated with Cutis Laxa

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GO Terms for genes affiliated with Cutis Laxa

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17Gene Ontology
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Cellular components related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1elastic fiberGO:0719539.6ELN, FBLN5
2extracellular matrixGO:0310129.2LTBP4, FBLN5
3proteinaceous extracellular matrixGO:0055788.7LTBP4, ELN, FBLN5
4extracellular regionGO:0055768.0FBLN5, EFEMP2, ELN, LTBP4

Biological processes related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of cell growthGO:0015589.2LTBP4, FBLN5
2extracellular matrix organizationGO:0301988.0LTBP4, ELN, EFEMP2, FBLN5

Molecular functions related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.5ELN, EFEMP2
2integrin bindingGO:0051789.1LTBP4, FBLN5
3calcium ion bindingGO:0055098.4FBLN5, EFEMP2, LTBP4
4protein bindingGO:0055157.6LTBP4, ELN, EFEMP2, FBLN5, ATP6V0A2

Products for genes affiliated with Cutis Laxa

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Sources for Cutis Laxa

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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