MCID: CTS001
MIFTS: 63

Cutis Laxa malady

Skin diseases, Fetal diseases categories

Summaries for Cutis Laxa

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 ehlers-danlos syndrome, and has symptoms including anteverted nares/nostrils, macular coloboma and mid-facial hypoplasia/short/small midface. 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, lung and heart, 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:63 Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized... more...

Aliases & Classifications for Cutis Laxa

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cutis laxa:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive


Aliases & Descriptions:

cutis laxa 8 42 21 10 44 48 60
generalized elastolysis 42
dermatomegaly 21
dermatolysis 21
loose skin 8


External Ids:

Disease Ontology8 DOID:3144
NCIt39 C84663
MeSH34 D003483
MESH via Orphanet35 D003483
SNOMED-CT56 238825007, 58588007
ICD10 via Orphanet26 Q82.8
SNOMED-CT via Orphanet57 58588007
UMLS via Orphanet61 C0010495

Related Diseases for Cutis Laxa

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17GeneCards, 18GeneDecks
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Diseases in the Cutis Laxa family:

Atp6v0a2-Related 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 150)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoxanthoma elasticum30.7FBN1, GGCX, ELN
2ehlers-danlos syndrome30.6ELN, FBN1
3pulmonary emphysema30.6LTBP4, ELANE, ELN
4occipital horn syndrome30.6LOX
5cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities30.6BP4, LTBP4
6aortic aneurysm30.3FBN1
7alpha 1-antitrypsin deficiency30.1ELANE
8supravalvular aortic stenosis30.1ELN, FBLN5, FBN1
9aortic disease30.1FBN1
10vasculitis30.1ELANE, ITPKC
11aneurysm disease30.1LOX, FBN1, ELANE, ELN
12cutis laxa, autosomal recessive type 2a10.7
13myeloma10.7
14multiple myeloma10.6
15cutis laxa, autosomal recessive type 2b10.6
16cutis laxa, autosomal recessive, type ia10.6
17efemp2-related cutis laxa10.6
18fbln5-related cutis laxa10.6
19cutis laxa, ad10.6
20amyloidosis10.5
21atp6v0a2-related cutis laxa10.5
22cutis laxa, autosomal recessive, type iiia10.5
23cutis laxa, autosomal recessive, type ic10.5
24macrocephaly, alopecia, cutis laxa, and scoliosis10.5
25cutis laxa, autosomal recessive, type iiib10.4
26costello syndrome10.4
27cutis laxa, autosomal dominant 210.4
28cutis laxa-marfanoid syndrome10.4
29acquired cutis laxa10.4
30dysmorphism cleft palate loose skin10.3
31urticaria10.3
32de barsy syndrome10.3
33cutis laxa, autosomal dominant10.3
34pycr1-related cutis laxa10.3
35age related macular degeneration10.2
36dermatitis10.2
37entropion10.2
38heavy chain disease10.2
39familial amyloidosis, finnish type10.2
40cutis laxa osteoporosis10.2
41eln-related cutis laxa10.2
42aldh18a1-related cutis laxa10.2
43weaver syndrome10.1
44trichorhinophalangeal syndrome type ii10.1
45lenz majewski hyperostotic dwarfism10.1
46thanatophoric dysplasia type 110.1
47bone fracture10.1
48wrinkles10.1
49dandy-walker syndrome10.1
50blepharochalasis10.1

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



Diseases related to cutis laxa

Clinical Features for Cutis Laxa

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Sources:
48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Cutis Laxa

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Cutis Laxa

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32MalaCards
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MalaCards organs/tissues related to Cutis Laxa:

32
Skin, Lung, Heart, Tongue, Colon, Brain, Bone, Skeletal muscle, T cells

Animal Models for Cutis Laxa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cutis Laxa:

36
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

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50PubMed
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Articles related to Cutis Laxa:

(show top 50)    (show all 310)
idTitleAuthorsYear
1
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. (23442826)
2013
2
Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene. (23406396)
2013
3
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. (22611120)
2012
4
Cutis laxa-like mycosis fungoides. (22409396)
2012
5
Marked bilateral lower eyelid ectropion in cutis laxa: a paraneoplastic process in multiple myeloma. (22551370)
2012
6
Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin. (22173889)
2012
7
Cutis laxa: a review. (22387031)
2012
8
Cutis laxa with skeletal muscle and nerve damage. (22182383)
2012
9
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations. (21834030)
2011
10
Cutis laxa: analysis of metalloproteinases and extracellular matrix expression by immunohistochemistry and histochemistry. (21719403)
2011
11
Acquired cutis laxa in a 55-year-old female with multiple myeloma and serologic evidence of systemic lupus erythematosus. (21810393)
2011
12
Cutis laxa: case report. (21152794)
2010
13
Penicillamine-induced Elastosis Perforans Serpiginosa and Cutis Laxa in a Patient with Wilson's Disease. (21165224)
2010
14
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. (19576563)
2009
15
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. (19171192)
2009
16
Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. (18819152)
2008
17
Bilateral trapped lung with concomitant Wermer's syndrome and cutis laxa. (19012220)
2008
18
Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation. (18187349)
2008
19
Acquired cephalic cutis laxa. (18328225)
2007
20
Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype. (16691202)
2006
21
Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa. (17035250)
2006
22
Localized acquired cutis laxa associated with trachyonychia]. (16476396)
2005
23
Acquired localized cutis laxa confined to the face: case report and review of the literature. (15569023)
2004
24
Cutis laxa: Improvement of facial aesthetics by using botulinum toxin. (15606829)
2004
25
A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa. (12707960)
2003
26
Autosomal recessive form of congenital cutis laxa: more than the clinical appearance. (12383097)
2002
27
Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease. (10777259)
2000
28
Osteoma cutis coexisting with cutis laxa-like pseudoxanthoma elasticum. (10901716)
2000
29
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (10406678)
1999
30
The role of plastic surgery in congenital cutis laxa: a 10-year follow-up. (10654761)
1999
31
Congenital cutis laxa and lysyl oxidase deficiency. (9111998)
1997
32
Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres. (8776377)
1996
33
Congenital cutis laxa. (20948101)
1996
34
Fibrillar protein deposits with tubular substructure in a systemic disease beginning as cutis laxa. (8507080)
1993
35
FBLN5-Related Cutis Laxa (20301756)
1993
36
Localized acquired cutis laxa in one of identical twins. (2767840)
1989
37
Severe congenital cutis laxa with pulmonary emphysema: a family with three affected sibs. (3232707)
1988
38
Collagen studies in congenital cutis laxa. (3632035)
1987
39
Congenital cutis laxa with retardation of growth and development. (3669050)
1987
40
Cutis laxa. (7062577)
1982
41
Multiple myeloma associated with acquired cutis laxa. (7408543)
1980
42
Ischaemic infarct of the brain stem combined with bisymptomatic Klippel-TrAcnaunay-Weber syndrome and cutis laxa. (181538)
1976
43
Cutis laxa. Ultrastructural and biochemical studies. (1147631)
1975
44
Cutis laxa, skeletal anomalies, and ambiguous genitalia. (4809786)
1974
45
Cutis laxa. A report of three cases. (5570257)
1971
46
The physical properties of skin in cutis laxa. (5575198)
1971
47
Multiple congenital skin webbing with cutis laxa. (4394470)
1970
48
Congenital cutis laxa with advanced cardiopulmonary disease. (5658618)
1968
49
Cutis laxa. (13544598)
1958
50
Cutis laxa with urticaria and purpura. (13329296)
1956

Genetic Variations for Cutis Laxa

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Expression for genes affiliated with Cutis Laxa

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Cutis Laxa

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Cutis Laxa according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1isodesmosine4410.6ELN, ELANE
2beta-aminopropionitrile4410.6LOX, ELN
3alpha-aminoadipic semialdehyde4410.6LOX, ELN
4orcein4410.6ELN, FBN1
5hydroxylysine4410.5ELN, LOX
6ethylenediamine4410.5ELANE, LOX
7delta(1)pyrroline-5-carboxylate4410.5ALDH18A1, PYCR1
8contrapsin4410.5BMP6, ELANE
9pentosidine4410.5ELN, LOX
10cacl24410.5FBN1, GSN, ELN
11(4-aminophenyl)mercuric acetate4410.5ELANE
12tannins4410.4ELN, ELANE
13dermatan sulfate4410.4BMP6, ELANE, ELN
14desmosine4410.4ELN, ELANE, FBN1, LOX
15procollagen4410.3LOX, BMP6, ELN
16bleomycin44 1111.3ELN, BMP6, LOX
17amine4410.3LOX, FBN1, ELN
18chondroitin sulfate44 2411.3BMP6, FBN1, ELN
19vitamin d4410.3BMP6, GSN, ELANE, ELN
20hyaluronic acid44 2411.3ELN, ELANE, FBN1, BMP6
21heparan sulfate44 2411.3ELN, LAMB1, FBN1, BMP6
22d penicillamine4410.3ELN, LOX
23thermolysin4410.2ELN, ELANE
24hydroxyproline44 11 2412.2LOX, PYCR1, BMP6, FBN1, ELN
25sodium dodecylsulfate4410.2ELN, ELANE, GSN, FBN1, BMP6
26glycosaminoglycan4410.1LOX, BMP6, ELN
27heparin44 28 11 2413.1BMP6, FBN1, GSN, ELANE, ELN
28sodium nitroprusside4410.0BMP6, ELANE, ELN
29retinoic acid44 2410.9LOX, BMP6, FBN1, LAMB1, GSN, ELANE
30cysteine449.9LOX, FBN1, GGCX, GSN, ELANE, ELN
31glutamate449.9BMP6, FBN1, GGCX, ALDH18A1, GSN, ELANE
32hydrocortisone44 2 59 1112.8ELN, ELANE, BMP6

GO Terms for genes affiliated with Cutis Laxa

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cutis Laxa

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet