MCID: CTS001
MIFTS: 59

Cutis Laxa malady

Skin, Fetal categories

Summaries for Cutis Laxa

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. 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. 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 pseudoxanthoma elasticum and occipital horn syndrome, and has symptoms including frontal bossing/prominent forehead, hypertelorism and low set ears/posteriorly rotated ears. An important gene associated with Cutis Laxa is FBLN5 (fibulin 5), and among its related pathways are Collagen biosynthesis and modifying enzymes and Amino acid synthesis and interconversion (transamination). The compounds isodesmosine and beta-aminopropionitrile have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and lung, and related mouse phenotypes are respiratory system and mortality/aging.

Genetics Home Reference:21 Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.

Wikipedia:64 Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized... more...

Aliases & Classifications for Cutis Laxa

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cutis laxa:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive


Aliases & Descriptions:

cutis laxa 8 43 21 10 45 49 61
generalized elastolysis 43
dermatomegaly 21
dermatolysis 21
loose skin 8


External Ids:

Disease Ontology8 DOID:3144
NCIt40 C84663
MeSH35 D003483
MESH via Orphanet36 D003483
SNOMED-CT57 238825007, 58588007
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet58 58588007
UMLS via Orphanet62 C0010495

Related Diseases for Cutis Laxa

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Cutis Laxa family:

cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 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 144)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoxanthoma elasticum30.7FBN1, GGCX, ELN
2occipital horn syndrome30.6LOX
3cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities30.6BP4, LTBP4
4aortic aneurysm30.4FBN1
5supravalvular aortic stenosis30.1ELN, FBLN5, FBN1
6aortic disease30.1FBN1
7vasculitis30.1ELANE, ITPKC
8aneurysm disease30.1LOX, FBN1, ELANE, ELN
9marfan syndrome30.1ELN, FBN1, BMP6, LOX
10acquired cutis laxa11.0
11cutis laxa, autosomal recessive type 2a10.8
12efemp2-related cutis laxa10.7
13cutis laxa, autosomal recessive type 2b10.6
14fbln5-related cutis laxa10.6
15cutis laxa, autosomal dominant10.6
16cutis laxa, ad10.6
17amyloidosis10.5
18atp6v0a2-related cutis laxa10.5
19cutis laxa, autosomal recessive, type iiia10.5
20cutis laxa, autosomal recessive, type ic10.5
21macrocephaly, alopecia, cutis laxa, and scoliosis10.5
22ehlers–danlos syndrome10.5
23pycr1-related cutis laxa10.5
24cutis laxa, autosomal recessive, type iiib10.5
25costello syndrome10.4
26urticaria10.4
27elastosis perforans serpiginosa10.4
28cutis laxa, autosomal recessive, type ib10.4
29cutis laxa, autosomal dominant 210.4
30cutis laxa-marfanoid syndrome10.4
31dysmorphism cleft palate loose skin10.4
32wilson disease10.4
33n syndrome10.4
34de barsy syndrome10.4
35cutis laxa osteoporosis10.4
36wrinkly skin syndrome10.4
37char syndrome10.3
38familial amyloidosis, finnish type10.3
39hereditary amyloidosis10.3
40marshall syndrome10.3
41geroderma osteodysplasticum10.3
42scarf syndrome10.3
43eln-related cutis laxa10.3
44aldh18a1-related cutis laxa10.3
45mental retardation10.3
46heavy chain deposition disease10.3
47weaver syndrome10.2
48trichorhinophalangeal syndrome type ii10.2
49thanatophoric dysplasia type 110.2
50bone fracture10.1

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



Diseases related to cutis laxa

Clinical Features for Cutis Laxa

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 76)
  • frontal bossing/prominent forehead
  • 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
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • ptosis
  • high vaulted/narrow palate
  • 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
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • repeat respiratory infections
  • 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
  • absent/hypotonic/flaccid abdominal wall muscles
  • emphysema
  • mid-facial hypoplasia/short/small midface
  • 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
  • heart/cardiac failure
  • patent ductus arteriosus
  • urticaria
  • recurrent urinary infections
  • microstomia/little mouth
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • x-linked recessive inheritance
  • atrial septal defect/interauricular communication
  • telecanthus/canthal dystopy
  • flattened nose
  • intrauterine growth retardation
  • vesicorenal/vesicoureteral reflux
  • premature ageing
  • excess nuchal skin without pterygium colli
  • large fontanelle/delayed fontanelle closure
  • ventricular septal defect/interventricular communication
  • craniostenosis/craniosynostosis/sutural synostosis
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • joint dislocation/subluxation
  • loose skin/skin relaxation/excess skin/creases
  • colonic/intestinal/bowel diverticulosis/diverticulitis
  • anomalies of mouth, lip and philtrum
  • eczema
  • anus ectopia/anteposition/malposition
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • turricephaly/oxycephaly/acrocephaly
  • anomalies of nose and olfaction
  • plagiocephaly
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • bronchial dilation/dilatation/bronchiectasia
  • hyperleukocytosis/leukocytosis
  • genital prolapse
  • rippled skin
  • esophageal diverticulum/pouch
  • macular coloboma

Drugs & Therapeutics for Cutis Laxa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cutis Laxa

Drug clinical trials:

Search ClinicalTrials for Cutis Laxa

Search NIH Clinical Center for Cutis Laxa

Search CenterWatch for Cutis Laxa

Genetic Tests for Cutis Laxa

Anatomical Context for Cutis Laxa

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cutis Laxa:

33
Skin, Brain, Lung, Heart, Skeletal muscle, T cells

Animal Models for Cutis Laxa or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cutis Laxa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.9ELN, GSN, LTBP4, LOX
2MP:00107689.2FBN1, LTBP4, EFEMP2, GGCX, LAMB1, ALDH18A1
3MP:00053859.2LOX, FBN1, FBLN5, LTBP4, EFEMP2, GGCX

Publications for Cutis Laxa

Sources:
51PubMed
See all sources

Articles related to Cutis Laxa:

(show top 50)    (show all 310)
idTitleAuthorsYear
1
Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis. (24046787)
2013
2
Cutis laxa: Intersection of elastic fiber biogenesis, TGFI^ signaling, the secretory pathway and metabolism. (23954411)
2013
3
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2. (23531708)
2013
4
Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. (22573328)
2012
5
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. (22411858)
2012
6
The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2. (21204221)
2011
7
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. (21309044)
2011
8
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? (21285876)
2011
9
Generalized acquired cutis laxa associated with multiple myeloma with biphenotypic IgG-I> and IgA-I_ gammopathy following treatment of a nodal plasmacytoma. (21422340)
2011
10
Epigenetic silencing of lysyl oxidase-like-1 through DNA hypermethylation in an autosomal recessive cutis laxa case. (20613779)
2010
11
Clinical presentation of a patient with localized acquired cutis laxa of abdomen: a case report. (20585600)
2010
12
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. (20389311)
2010
13
Congenital cutis laxa. (20220272)
2010
14
Acquired cutis laxa following urticarial vasculitis associated with IgA myeloma. (19467378)
2009
15
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. (19664000)
2009
16
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. (18348261)
2008
17
Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. (17958802)
2007
18
Defective protein glycosylation in patients with cutis laxa syndrome. (15657616)
2005
19
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. (15955459)
2005
20
Ocular findings in cutis laxa acquisita. (11897959)
2002
21
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). (9873040)
1999
22
Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. (8727781)
1996
23
Acrolocalized acquired cutis laxa. (8736350)
1996
24
Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain. (7884000)
1995
25
Acquired localized cutis laxa due to cutaneous lymphoplasmacytoid lymphoma. (7826089)
1995
26
Sweet's syndrome leading to acquired cutis laxa (Marshall's syndrome) in an infant with alpha 1-antitrypsin deficiency. (7574835)
1995
27
D-penicillamine-induced elastosis perforans serpiginosa and localized cutis laxa in a patient with Wilson's disease. (8045756)
1994
28
Costello syndrome: natural history and differential diagnosis of cutis laxa. (7520945)
1994
29
Acquired cutis laxa with dermatitis herpetiformis and sarcoidosis. (8408824)
1993
30
Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. (1864606)
1991
31
Vascular abnormalities in congenital cutis laxa--report of two cases. (2116064)
1990
32
Congenital cutis laxa. (2792495)
1989
33
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). (2596519)
1989
34
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
35
Acquired cutis laxa concomitant with nephrotic syndrome. (3307640)
1987
36
Cutis laxa associated with amyloidosis. (3708900)
1986
37
Cutis laxa with delayed development. (4091771)
1985
38
Skeletal dysplasia, hyperpigmentation, cutis laxa, endocrine abnormality, and mental retardation--the Patterson syndrome. (7163277)
1982
39
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. (6104292)
1980
40
Acquired cutis laxa (generalized elastolysis): light and electron microscopic studies. (92145)
1979
41
Reversible cutis laxa due to maternal D-penicillamine treatment. (87922)
1979
42
Two forms of cutis laxa presenting in the newborn period. (102106)
1978
43
Cutis laxa-a heterogeneous disorder. (4462624)
1974
44
The physical properties of skin in cutis laxa. (5145425)
1971
45
Acquired cutis laxa. Primary generalized elastolysis. (5555855)
1971
46
Cutis laxa. (5173295)
1971
47
Plastic surgery in cutis laxa. (5469601)
1970
48
Cutis laxa associated with pulmonary artery stenosis. (5647293)
1968
49
Cutis hyperelastica (Ehlers-Danlos) and cutis laxa. (13973774)
1963
50
Cutis laxa. (13748595)
1961

Genetic Variations for Cutis Laxa

Expression for genes affiliated with Cutis Laxa

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cutis Laxa

Search GEO for disease gene expression data for Cutis Laxa.

Pathways for genes affiliated with Cutis Laxa

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN
See all sources

Compounds for genes affiliated with Cutis Laxa

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

Compounds related to Cutis Laxa according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1isodesmosine4510.6ELN, ELANE
2beta-aminopropionitrile4510.6LOX, ELN
3alpha-aminoadipic semialdehyde4510.6LOX, ELN
4orcein4510.6ELN, FBN1
5hydroxylysine4510.5ELN, LOX
6ethylenediamine4510.5ELANE, LOX
7delta(1)pyrroline-5-carboxylate4510.5ALDH18A1, PYCR1
8contrapsin4510.5BMP6, ELANE
9pentosidine4510.5ELN, LOX
10cacl24510.5FBN1, GSN, ELN
11(4-aminophenyl)mercuric acetate4510.5ELANE
12tannins4510.4ELN, ELANE
13dermatan sulfate4510.4BMP6, ELANE, ELN
14desmosine4510.4ELN, ELANE, FBN1, LOX
15procollagen4510.3LOX, BMP6, ELN
16bleomycin45 1111.3ELN, BMP6, LOX
17amine4510.3LOX, FBN1, ELN
18chondroitin sulfate45 2411.3BMP6, FBN1, ELN
19vitamin d4510.3BMP6, GSN, ELANE, ELN
20hyaluronic acid45 2411.3ELN, ELANE, FBN1, BMP6
21heparan sulfate45 2411.3ELN, LAMB1, FBN1, BMP6
22d penicillamine4510.3ELN, LOX
23thermolysin4510.2ELN, ELANE
24hydroxyproline45 11 2412.2LOX, PYCR1, BMP6, FBN1, ELN
25sodium dodecylsulfate4510.2ELN, ELANE, GSN, FBN1, BMP6
26glycosaminoglycan4510.1LOX, BMP6, ELN
27heparin45 29 11 2413.1BMP6, FBN1, GSN, ELANE, ELN
28sodium nitroprusside4510.0BMP6, ELANE, ELN
29retinoic acid45 2410.9LOX, BMP6, FBN1, LAMB1, GSN, ELANE
30cysteine459.9LOX, FBN1, GGCX, GSN, ELANE, ELN
31glutamate459.9BMP6, FBN1, GGCX, ALDH18A1, GSN, ELANE
32hydrocortisone45 2 60 1112.8ELN, ELANE, BMP6

GO Terms for genes affiliated with Cutis Laxa

Sources:
16Gene Ontology
See all sources

Cellular components related to Cutis Laxa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1elastic fiberGO:07195310.2FBLN5, ELN
2basement membraneGO:00560410.1LAMB1, EFEMP2, FBN1
3extracellular matrixGO:0310129.8LOXL1, FBN1, FBLN5, LTBP4, LAMB1
4proteinaceous extracellular matrixGO:0055789.7ELN, LTBP4, FBLN5, FBN1
5extracellular spaceGO:0056159.5LOXL1, LOX, BMP6, FBN1, FBLN5, LTBP4
6extracellular regionGO:0055769.3ELN, LOXL1, LOX, FBN1, FBLN5, LTBP4

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

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid biosynthetic processGO:00865210.2ALDH18A1, PYCR1
2proline biosynthetic processGO:00656110.1ALDH18A1, PYCR1
3L-proline biosynthetic processGO:05512910.1PYCR1, PYCRL, ALDH18A1
4elastic fiber assemblyGO:04825110.0FBLN5, LOX
5extracellular matrix organizationGO:0301989.4ELN, LOXL1, LOX, FBN1, FBLN5, LTBP4

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

idNameGO IDScoreTop Affiliating Genes
1pyrroline-5-carboxylate reductase activityGO:00473510.1PYCRL, PYCR1
2extracellular matrix structural constituentGO:00520110.0ELN, LAMB1, EFEMP2, FBN1
3calcium ion bindingGO:0055099.9GSN, EFEMP2, LTBP4, FBLN5, FBN1
4integrin bindingGO:0051789.8FBLN5, LTBP4, LAMB1

Products for genes affiliated with Cutis Laxa

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cutis Laxa

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