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cutis laxa

skin disease characterized by skin that is loose, hanging, wrinkled and lacking in elasticity; it can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines and lungs
Class type of: skin disease Q2735907

Facts

8 properties
Instance of
rare disease, class of disease[3]
Subclass of
skin disease
Described by source
The Unified Medical Dictionary (Librairie du Liban, 2009)[4]
Genetic association
ELN, LTBP4, PYCR1, EFEMP2, FBLN5, ATP6V1A, ATP6V1E1, ATP7A, EFEMP1, LTBP1, ALDH18A1, SLC2A10, ATP6V0A2, RIN2, GORAB[7][8][9][10][11][12][13][14][15][16][17][18][19][20]
Health specialty
medical genetics[6]
NCI Thesaurus ID
C84663[5]
On focus list of Wikimedia project
WikiProject Medicine[21]
P14914
D00209[22]
🏷️ Also known as
en generalized elastorrhexis en pachydermatocele en loose skin en cutis laxa en Cutis laxa en Cutis laxa (disorder) en dermatolysis en Elastolysis en generalized elastolysis en Generalized elastolysis ar تهدل الجلد de Cutis-laxa-Syndrom el χαλαροδερμία id Sindrom cutis laxa ja 皮膚弛緩症 pl Cutis laxa pl Skóra wiotka vi Bệnh nhão da zh 皮肤松弛症
🔖 Identifiers · 28
GND ID
1193207045
OpenAlex ID
C2778745941
Image (Wikimedia Commons)
Ajcr-5-3.f1.jpg ↗
Disease Ontology ID
DOID:3144
DiseasesDB
29439
EMedicine ID
1074167
Encyclopædia Britannica Online ID
science/cutis-laxa
Encyclopædia Universalis ID
cutis-laxa
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org
Freebase ID
/m/0c_0xv
GARD rare disease ID
6227
GeneReviews ID
NBK5201
Show all 28 identifiers +16
Genetics Home Reference Conditions ID
cutis-laxa
Human Phenotype Ontology ID
HP:0000973
ICD-10-CM
Q82.8
ICD-11 ID (Foundation)
1227401566
ICD-11 ID (MMS)
EE41.0
ICD-9 ID
701.8, 756.83
KEGG ID
H00557
MeSH descriptor ID
D003483
MeSH tree code
C16.320.850.180, C17.300.230, C17.800.827.180
Microsoft Academic ID (discontinued)
2778745941
Mondo ID
MONDO_0016175
OMIM ID
123700
Orphanet ID
209
UMLS CUI
C0010495, C2930812, C4280606
WikiKids ID
Cutis_laxa
WikiProjectMed ID
Cutis laxa

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Genetic association 3
EFEMP2, FBLN5, PYCR1
Subtypes 2
De Barsy syndrome, gerodermia osteodysplastica
Health specialty 1
medical genetics
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
skin disease
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Summary

cutis laxa is a rare disease[1]. It is a type of skin disease[2].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. wikidata.org.
  7. [8] ↑ . Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development. wikidata.org.
  8. [9] ↑ . Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. wikidata.org.
  9. [10] ↑ . Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. wikidata.org.
  10. [11] ↑ . Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). cutis laxa. Retrieved November 7, 2026, from https://4ort.xyz/entity/cutis-laxa
MLA “cutis laxa.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Nov. 2026, https://4ort.xyz/entity/cutis-laxa.
BibTeX @misc{4ortxyz_cutis-laxa_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cutis laxa}}, year = {2026}, url = {https://4ort.xyz/entity/cutis-laxa}, note = {Accessed: 2026-11-07}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): cutis laxa — https://4ort.xyz/entity/cutis-laxa (retrieved 2026-11-07)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 15d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Genetic association → ELN, LTBP4, PYCR1 +12
    GND ID → 1193207045
    Wikipedia languages → ['ar', 'az', 'commons', 'de', 'en', 'es', 'fr', 'id', 'it', 'ja', 'nl', 'pl', 's
    P14914 → D00209
    + 1 other property edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 6w ago · تامر · 2026-09-26 view diff on Wikidata ↗
    Described by source → The Unified Medical Dictionary (Librairie du Liban, 2009)
    "/* wbsetclaim-create:2||1 */ Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.