MCID: CRN014
MIFTS: 40

Cronkhite-Canada Syndrome malady

Gastrointestinal, Skin, Fetal, Cancer categories

Summaries for Cronkhite-Canada Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Cronkhite-canada syndrome is a rare gastrointestinal disorder. it is characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, and stomach pain. the cause of the condition is not known. treatment aims to control symptoms and provide adequate nutrition. last updated: 12/20/2010

MalaCards: Cronkhite-Canada Syndrome, also known as gastric cronkhite canada polyposis, is related to adenoma and n syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, seizures/epilepsy/absences/spasms/status epilepticus and cataract/lens opacification. An important gene associated with Cronkhite-Canada Syndrome is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways is Platelet activation, signaling and aggregation. The compounds erlotinib and irinotecan have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and colon.

Description from OMIM:47 175500

Aliases & Classifications for Cronkhite-Canada Syndrome

Sources:
8Disease Ontology, 49Orphanet, 47OMIM, 61UMLS, 43NIH Rare Diseases, 40NCIt, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cronkhite-canada syndrome:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Any age


Aliases & Descriptions:

cronkhite-canada syndrome 8 49 47 61
gastric cronkhite canada polyposis 8 61
gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes 49
polyposis skin pigmentation alopecia fingernail changes 43
polyposis, gastrointestinal, with ectodermal changes 61
gastrointestinal polyposis - ectodermal changes 49
cronkhite-canada disease 43


External Ids:

Disease Ontology8 DOID:6225
NCIt40 C7035
OMIM47 175500
SNOMED-CT via Orphanet58 76304001
UMLS via Orphanet62 C0282207

Related Diseases for Cronkhite-Canada Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Cronkhite-Canada Syndrome:



Diseases related to cronkhite-canada syndrome

Clinical Features for Cronkhite-Canada Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

175500

Clinical synopsis from OMIM:

175500

Symptoms:

49 (show all 28)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • seizures/epilepsy/absences/spasms/status epilepticus
  • cataract/lens opacification
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • vascular anomalies of skin/mucosae
  • malabsorption/chronic diarrhea/steatorrhea
  • asthenia/fatigue/weakness
  • anaemia
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • acute abdominal pain/colic
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • lymphedema
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • anorexia
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • neoplasms/tumors
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • polyposis of the bowel/colon/intestine
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • absent/decreased/thin eyebrows
  • decreased body hair/axillar/pubic hairlessness
  • fissured/scrotal tongue
  • tapered fingers
  • dysplastic/thick/grooved fingernails
  • alopecia
  • dysplastic/thick/grooved toenails

Drugs & Therapeutics for Cronkhite-Canada Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cronkhite-Canada Syndrome

Drug clinical trials:

Search ClinicalTrials for Cronkhite-Canada Syndrome

Search NIH Clinical Center for Cronkhite-Canada Syndrome

Search CenterWatch for Cronkhite-Canada Syndrome

Genetic Tests for Cronkhite-Canada Syndrome

Anatomical Context for Cronkhite-Canada Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Cronkhite-Canada Syndrome:

33
Skin, Brain, Colon

Animal Models for Cronkhite-Canada Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cronkhite-Canada Syndrome

Sources:
51PubMed
See all sources

Articles related to Cronkhite-Canada Syndrome:

(show top 50)    (show all 146)
idTitleAuthorsYear
1
Spontaneous Regression of Polyposis following Abdominal Colectomy and Helicobacter pylori Eradication for Cronkhite-Canada Syndrome. (23569441)
2013
2
Cronkhite-Canada syndrome: a report of two familial cases. (23408256)
2013
3
Cronkhite-Canada syndrome: a case report and review of literature. (23173699)
2013
4
Cronkhite-Canada Syndrome: Review of the Literature. (24369458)
2013
5
A case of cronkhite-Canada syndrome and a review of gastrointestinal polyposis syndromes. (22675284)
2012
6
Cronkhite-Canada syndrome associated with a giant cell bone tumor. (23256113)
2012
7
Diarrhoea, weight loss and polyposis: think Cronkhite-Canada syndrome. (22679262)
2011
8
Endoscopically treated Cronkhite-Canada syndrome associated with minute intramucosal gastric cancer: an analysis of molecular pathology. (21951093)
2011
9
A case of Cronkhite-Canada syndrome complicated by McKittrick-Wheelock syndrome associated with advanced villous adenocarcinoma. (20887986)
2011
10
Radiological features of Cronkhite-Canada syndrome. (20938600)
2010
11
Cecal intussusception in an adult with Cronkhite-Canada syndrome relieved by colonoscopy. (20558928)
2010
12
A fulminant course of Cronkhite-Canada syndrome. (21170844)
2010
13
Magnifying the endoscopic appearance of Cronkhite-Canada syndrome. (19683713)
2009
14
Hyperpigmentation, nail dystrophy and alopecia with generalised intestinal polyposis: Cronkhite-Canada syndrome. (18855786)
2008
15
CT endoscopy for the follow-up of Cronkhite-Canada syndrome. (16680416)
2007
16
A case of Cronkhite-Canada syndrome with colorectal adenomas: effect of the nonsteroidal anti-inflammatory drug sulindac. (17686082)
2007
17
A case of Cronkhite-Canada syndrome with taste disturbance as a leading complaint. (15942207)
2005
18
Is Cronkhite-Canada Syndrome necessarily a late-onset disease? (16148564)
2005
19
Cronkhite-Canada syndrome. (15942206)
2005
20
A case of Cronkhite-Canada syndrome with vestibular disturbances. (15014948)
2004
21
Cronkhite-Canada syndrome containing colon cancer and serrated adenoma lesions. (14755154)
2004
22
Cronkhite-Canada syndrome with adenomatous and carcinomatous transformation of colonic polyp. (14658536)
2003
23
Cronkhite-Canada syndrome: sustained remission after corticosteroid treatment. (12818298)
2003
24
Cronkhite-Canada syndrome. A case of sustained partial-remission. (11838614)
2001
25
Cronkhite Canada syndrome. (11310396)
2000
26
Cronkhite-Canada syndrome: report of two cases, biopsy findings in the associated alopecia, and a new treatment option. (9564598)
1998
27
Gastrointestinal: Cronkhite-Canada syndrome. (9870808)
1998
28
Image of the month. Cronkhite-Canada syndrome. (9394720)
1997
29
Infantile Cronkhite-Canada syndrome. (10771847)
1997
30
The Cronkhite-Canada syndrome: a seldom recognized entity. (8076560)
1994
31
Cronkhite-Canada syndrome associated with colon cancer: report of a case. (8219618)
1993
32
Triple carcinomas in Cronkhite-Canada syndrome. (1942550)
1991
33
Cronkhite-Canada syndrome with hypothyroidism. (2373535)
1990
34
A case with some components of Cronkhite-Canada syndrome in a family with Peutz-Jeghers syndrome. (3154191)
1988
35
Cronkhite-Canada syndrome: an analysis of clinical features and follow-up studies of 80 cases reported in Japan. (3077242)
1988
36
Colon cancer in the Cronkhite-Canada syndrome. (3745857)
1986
37
Erosive arthritis in Cronkhite-Canada syndrome. (4011892)
1985
38
Spontaneous improvement of Cronkhite-Canada syndrome in a postpartum female. (6714066)
1984
39
The Cronkhite-Canada Syndrome. An analysis of clinical and pathologic features and therapy in 55 patients. (7109958)
1982
40
Cronkhite-Canada syndrome associated with systemic vasculitis: an autopsy study. (7106738)
1982
41
The radiographic appearance of the stomach in Cronkhite-Canada syndrome. (7291542)
1981
42
'Chronic atrophic gastroenterocolitis': a variant of Cronkhite-Canada syndrome? (6893407)
1980
43
Cronkhite-Canada syndrome: report of an unusual case. (7409393)
1980
44
Cronkhite-Canada syndrome in a Malay. (760669)
1979
45
Superficial cystic gastritis with alopecia. A forme fruste of the Cronkhite-Canada syndrome. (195553)
1977
46
An autopsy case of Cronkhite-Canada syndrome. (992257)
1976
47
The Cronkhite-Canada syndrome. (4760723)
1973
48
The Cronkhite-Canada syndrome. (4635110)
1972
49
Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome). (5808657)
1969
50
Case of cronkhite--Canada syndrome with associated jejunal diverticulosis. (4964743)
1967

Genetic Variations for Cronkhite-Canada Syndrome

Expression for genes affiliated with Cronkhite-Canada Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cronkhite-Canada Syndrome

Search GEO for disease gene expression data for Cronkhite-Canada Syndrome.

Pathways for genes affiliated with Cronkhite-Canada Syndrome

Sources:
54Reactome
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Pathways related to Cronkhite-Canada Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1ALB, KRAS

Compounds for genes affiliated with Cronkhite-Canada Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Cronkhite-Canada Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1erlotinib45 50 1111.2ALB, KRAS
2irinotecan45 50 1111.2ALB, KRAS
3gefitinib45 50 1111.1ALB, KRAS
4fatty acid459.1ALB, KRAS
5imatinib45 50 1111.0KRAS, ALB
6vitamin d458.8ALB, KRAS

GO Terms for genes affiliated with Cronkhite-Canada Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Cronkhite-Canada Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1ALB, KRAS

Products for genes affiliated with Cronkhite-Canada Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cronkhite-Canada Syndrome

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