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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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
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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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Sources:
50PubMed
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Articles related to Cutis Laxa:

(show top 50)    (show all 310)
idTitleAuthorsYear
1
Acral localized acquired cutis laxa. (23675943)
2013
2
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. (22773132)
2012
3
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders? (21964806)
2011
4
Zenker's and epiphrenic diverticula in a patient with cutis laxa: should the surgical technique be modified? (20840467)
2010
5
Cutis laxa: a case report and an update. (20046188)
2010
6
Mechanisms of emphysema in autosomal dominant cutis laxa. (20600892)
2010
7
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, DebrAc type. (19805737)
2009
8
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. (19631308)
2009
9
Mutations in PYCR1 cause cutis laxa with progeroid features. (19648921)
2009
10
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. (19194475)
2009
11
Localized acquired cutis laxa secondary to interstitial granulomatous dermatitis. (19438565)
2009
12
Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix? (19401717)
2009
13
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. (17937443)
2007
14
Association of cutis laxa and genital prolapse: a case report. (17453126)
2007
15
Autosomal recessive cutis laxa in two siblings associated with blue sclera. (17509111)
2007
16
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. (17110937)
2007
17
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. (16496270)
2006
18
Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis. (15708288)
2005
19
A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. (12892171)
2003
20
Cutis laxa of the autosomal recessive type in a consanguineous family. (14721770)
2003
21
Cutis laxa: clinical experience and outcomes. (12794493)
2003
22
A case report of cutis laxa in one of identical twins. (12621575)
2002
23
Image of the month. Diagnosis of cutis laxa. (11138592)
2000
24
Post febrile acquired cutis laxa. (20885052)
1999
25
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. (9580666)
1998
26
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. (8834257)
1996
27
Autosomal recessive cutis laxa syndrome. A case report. (8869689)
1996
28
Increased expression of type VI collagen genes in cutis laxa fibroblasts. (8869029)
1996
29
Acquired cutis laxa associated with chronic urticaria. (7593805)
1995
30
Generalized elastolysis (cutis laxa): case study illustrating associated medical and surgical conditions. (7597482)
1995
31
Congenital cutis laxa with a dominant inheritance and early onset emphysema. (8091333)
1994
32
Fibrillary protein deposits with tubular substructure in a systemic disease beginning as cutis laxa. (8304771)
1994
33
Are X-linked cutis laxa and Menkes disease allelic? (8490656)
1993
34
Congenital cutis laxa: a case report and review of loose skin syndromes. (8494307)
1993
35
Acquired cutis laxa confined to the face. (2061455)
1991
36
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. (1700609)
1990
37
Acral localized acquired cutis laxa. (2745770)
1989
38
Variable clinical presentation of cutis laxa. (4064367)
1985
39
Characterization of a type VI collagen-related Mr-140 000 protein from cutis-laxa fibroblasts in culture. (4004777)
1985
40
Cutis laxa, ligamentous laxity, and delayed development. (6493890)
1984
41
Fatal, penicillin-induced, generalized, postinflammatory elastolysis (cutis laxa). (6625118)
1983
42
Cutis laxa with intrauterine growth retardation and hip dislocation in a male. (565809)
1978
43
Cutis laxa and lamellar ichthyosis in siblings. (1269173)
1976
44
Pulmonary elastic tissue in generalized elastolysis (cutis laxa) and Marfan's syndrome: a light and electron microscopic study. (1194710)
1975
45
Coexisting familial abnormalities of karyotype and phenotype. Chromosome 16 and an unusual form of cutis laxa with skin webs. (5455786)
1970
46
Tracheobronchiomegaly and acquired cutis laxa in a child. Physiologic and immunologic studies. (4192682)
1969
47
Cutis laxa. (5773419)
1969
48
Cutis laxa. (5795773)
1969
49
Cutis laxa. A manifestation of generalized elastolysis. (5835325)
1965
50
Angiitis with nodule formation, vasomotor instability and secondary cutis laxa. (13654839)
1959

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