MCID: CRN014
MIFTS: 52

Cronkhite-Canada Syndrome malady

Rare diseases, Gastrointestinal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Cronkhite-Canada Syndrome

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NIH Rare Diseases:42 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 based summary: Cronkhite-Canada Syndrome, also known as gastric cronkhite canada polyposis, is related to pancreatitis and gastric cancer, and has symptoms including hamartoma/tumefaction of the tongue/gingivae/oral mucosa, abnormal pigmentary skin changes/skin pigmentation anomalies and diffuse/generalised skin hyperpigmentation/melanoderma. An important gene associated with Cronkhite-Canada Syndrome is KRAS (Kirsten rat sarcoma viral oncogene homolog), and among its related pathways is Hemostasis. The compounds erlotinib and gefitinib have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and tongue, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Description from OMIM:46 175500

Aliases & Classifications for Cronkhite-Canada Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 39NCIt, 63UMLS via Orphanet
See all sources

Cronkhite-Canada Syndrome, Aliases & Descriptions:

Name: Cronkhite-Canada Syndrome 8 48 46 62
Gastric Cronkhite Canada Polyposis 8 62
Gastrointestinal Polyposis - Skin Pigmentation - Alopecia - Fingernail Changes 48
Polyposis Skin Pigmentation Alopecia Fingernail Changes 42
 
Polyposis, Gastrointestinal, with Ectodermal Changes 62
Gastrointestinal Polyposis - Ectodermal Changes 48
Cronkhite-Canada Disease 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cronkhite-canada syndrome:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Any age


External Ids:

Disease Ontology8 DOID:6225
NCIt39 C7035
OMIM46 175500
UMLS via Orphanet63 C0282207

Related Diseases for Cronkhite-Canada Syndrome

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Graphical network of the top 20 diseases related to Cronkhite-Canada Syndrome:



Diseases related to cronkhite-canada syndrome

Symptoms for Cronkhite-Canada Syndrome

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Symptoms by clinical synopsis from OMIM:

175500

Clinical features from OMIM:

175500

Symptoms:

48 (show all 44)
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • thin/hypoplastic/hyperconvex fingernails
  • dysplastic/thick/grooved fingernails
  • thin/hypoplastic toenails
  • dysplastic/thick/grooved toenails
  • abnormal nails colour/leukonychia/melanonychia
  • polyposis of the bowel/colon/intestine
  • malabsorption/chronic diarrhea/steatorrhea
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • colon neoplasm/tumor/carcinoma/cancer
  • absent/decreased/thin eyebrows
  • irregular/patchy skin hypopigmentation
  • vascular anomalies of skin/mucosae
  • decreased body hair/axillar/pubic hairlessness
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • lymphedema
  • anorexia
  • autoimmunity/autoimmune reaction/autoantibodies
  • anaemia
  • small bowel neoplasm/tumor/carcinoma/cancer
  • asthenia/fatigue/weakness
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • cataract/lens opacification
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • fissured/scrotal tongue
  • tapered fingers
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • heart/cardiac failure
  • renal glomerular defect/glomerulopathy
  • hypothyroidy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hypoproteinemia
  • neoplasms/tumors
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • early death/lethality

HPO human phenotypes related to Cronkhite-Canada Syndrome:

(show all 60)
id Description Frequency HPO Source Accession
1 abnormality of the fingernails hallmark (90%) HP:0001231
2 alopecia hallmark (90%) HP:0001596
3 hypoplastic toenails hallmark (90%) HP:0001800
4 malabsorption hallmark (90%) HP:0002024
5 neoplasm of the stomach hallmark (90%) HP:0006753
6 generalized hyperpigmentation hallmark (90%) HP:0007440
7 neoplasm of the colon hallmark (90%) HP:0100273
8 abnormality of nail color hallmark (90%) HP:0100643
9 intestinal polyposis hallmark (90%) HP:0200008
10 lymphedema typical (50%) HP:0001004
11 hypopigmented skin patches typical (50%) HP:0001053
12 anemia typical (50%) HP:0001903
13 abdominal pain typical (50%) HP:0002027
14 anorexia typical (50%) HP:0002039
15 gastrointestinal hemorrhage typical (50%) HP:0002239
16 autoimmunity typical (50%) HP:0002960
17 neoplasm of the small intestine typical (50%) HP:0100833
18 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
19 furrowed tongue occasional (7.5%) HP:0000221
20 macrocephaly occasional (7.5%) HP:0000256
21 cataract occasional (7.5%) HP:0000518
22 hypothyroidism occasional (7.5%) HP:0000821
23 tapered finger occasional (7.5%) HP:0001182
24 seizures occasional (7.5%) HP:0001250
25 congestive heart failure occasional (7.5%) HP:0001635
26 splenomegaly occasional (7.5%) HP:0001744
27 hepatomegaly occasional (7.5%) HP:0002240
28 hypoproteinemia occasional (7.5%) HP:0003075
29 paresthesia occasional (7.5%) HP:0003401
30 decreased body weight occasional (7.5%) HP:0004325
31 abnormality of the sense of smell occasional (7.5%) HP:0004408
32 feeding difficulties in infancy occasional (7.5%) HP:0008872
33 glomerulopathy occasional (7.5%) HP:0100820
34 glossitis HP:0000206
35 xerostomia HP:0000217
36 cataract HP:0000518
37 hyperpigmentation of the skin HP:0000953
38 clubbing HP:0001217
39 muscle weakness HP:0001324
40 alopecia HP:0001596
41 anemia HP:0001903
42 thromboembolism HP:0001907
43 vomiting HP:0002013
44 diarrhea HP:0002014
45 malabsorption HP:0002024
46 abdominal pain HP:0002027
47 anorexia HP:0002039
48 nail dysplasia HP:0002164
49 protein-losing enteropathy HP:0002243
50 hematochezia HP:0002573
51 gastrointestinal carcinoma HP:0002672
52 hypokalemia HP:0002900
53 hypocalcemia HP:0002901
54 hypomagnesemia HP:0002917
55 paresthesia HP:0003401
56 sporadic HP:0003745
57 cachexia HP:0004326
58 hamartomatous polyps HP:0004390
59 nail dystrophy HP:0008404
60 clubbing of fingers HP:0100759

Drugs & Therapeutics for Cronkhite-Canada Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cronkhite-Canada Syndrome

Search NIH Clinical Center for Cronkhite-Canada Syndrome

Genetic Tests for Cronkhite-Canada Syndrome

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Anatomical Context for Cronkhite-Canada Syndrome

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MalaCards organs/tissues related to Cronkhite-Canada Syndrome:

32
Skin, Colon, Tongue, Heart, Liver, Olfactory bulb, Bone, Brain, Small intestine

Animal Models for Cronkhite-Canada Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cronkhite-Canada Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.2KRAS, ALB
2MP:00053709.2KRAS, ALB
3MP:00053679.1KRAS, ALB
4MP:00053799.1KRAS, ALB
5MP:00053819.0ALB, KRAS
6MP:00053698.8KRAS, ALB

Publications for Cronkhite-Canada Syndrome

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Articles related to Cronkhite-Canada Syndrome:

(show top 50)    (show all 151)
idTitleAuthorsYear
1
Cronkhite-Canada syndrome: report of six cases and review of literature. (24966624)
2014
2
Spontaneous Regression of Polyposis following Abdominal Colectomy and Helicobacter pylori Eradication for Cronkhite-Canada Syndrome. (23569441)
2013
3
Cronkhite-Canada syndrome: a report of two familial cases. (23408256)
2013
4
Cronkhite-Canada syndrome: a case report and review of literature. (23173699)
2013
5
A severe course of Cronkhite-Canada syndrome and the review of clinical features and therapy in 49 Chinese patients. (24226722)
2013
6
Cronkhite-Canada syndrome complicated with multiple gastric cancers and multiple colon adenomas. (23826450)
2013
7
Steroid-resistant Cronkhite-Canada Syndrome Successfully Treated by Cyclosporine and Azathioprine. (24172181)
2013
8
Cronkhite-Canada syndrome: an acquired condition of gastrointestinal polyposis and dermatologic abnormalities. (22675285)
2012
9
Cronkhite Canada syndrome with early colorectal carcinoma in a patient. (23240286)
2012
10
Case of Cronkhite Canada syndrome shows improvement with enteral supplements. (23029747)
2012
11
A case of cronkhite-Canada syndrome and a review of gastrointestinal polyposis syndromes. (22675284)
2012
12
Twenty nail onychomadesis: an unusual finding in Cronkhite-Canada syndrome. (20542187)
2010
13
Cronkhite-Canada syndrome associated with rib fractures: a case report. (20955587)
2010
14
Magnifying the endoscopic appearance of Cronkhite-Canada syndrome. (19683713)
2009
15
Cronkhite-Canada syndrome with adenomatous polyposis. (18480533)
2008
16
Unusual cause of diarrhea: cronkhite-Canada syndrome. (18356114)
2008
17
Cronkhite Canada syndrome. (19051706)
2008
18
Electronic clinical challenges and images in GI. Cronkhite-Canada syndrome. (19013171)
2008
19
Cronkhite-Canada syndrome hamartomatous polyps are infiltrated with IgG4 plasma cells. (17510553)
2007
20
Cronkhite-Canada syndrome associated with schizophrenia. (17301512)
2007
21
Wireless capsule endoscopic finding in Cronkhite-Canada syndrome. (16698761)
2006
22
A case of Cronkhite-Canada syndrome with vestibular disturbances. (15014948)
2004
23
Cronkhite-Canada syndrome. (15332040)
2004
24
Novel endosonographic findings in Cronkhite-Canada syndrome. (12701028)
2003
25
Cronkhite-Canada syndrome with colon cancer, portal thrombosis, high titer of antinuclear antibodies, and membranous glomerulonephritis. (14505136)
2003
26
Medical management of Cronkhite-Canada syndrome. (11846261)
2002
27
A case of Cronkhite-Canada syndrome involving the entire gastrointestinal tract. (11315906)
2001
28
Cronkhite-Canada syndrome. A case of sustained partial-remission. (11838614)
2001
29
Cronkhite-Canada syndrome. (11428328)
2001
30
Cronkhite-Canada syndrome: report of two cases. (11023043)
2000
31
Cronkhite Canada syndrome. (11310396)
2000
32
Residents' corner. Answer to case of the month #64. Cronkhite-Canada syndrome. (10555512)
1999
33
Cronkhite-Canada syndrome: report of two cases, biopsy findings in the associated alopecia, and a new treatment option. (9564598)
1998
34
Infantile Cronkhite-Canada syndrome?--Case report. (1329940)
1992
35
Triple carcinomas in Cronkhite-Canada syndrome. (1942550)
1991
36
Cronkhite-Canada syndrome with hypothyroidism. (2373535)
1990
37
Cronkhite-Canada syndrome: radiologic features. (2680733)
1989
38
A case with some components of Cronkhite-Canada syndrome in a family with Peutz-Jeghers syndrome. (3154191)
1988
39
Cronkhite-Canada syndrome associated with colon carcinoma and adenomatous changes in C-C polyps. (3381811)
1988
40
Cronkhite Canada syndrome: a new hypothesis. (3996943)
1985
41
Erosive arthritis in Cronkhite-Canada syndrome. (4011892)
1985
42
The Cronkhite-Canada Syndrome. An analysis of clinical and pathologic features and therapy in 55 patients. (7109958)
1982
43
A case of Cronkhite-Canada syndrome developing after hemi-colectomy. (7297517)
1981
44
Cronkhite-Canada syndrome in a Malay. (760669)
1979
45
Cronkhite-Canada syndrome. Case report. (872063)
1977
46
An autopsy case of Cronkhite-Canada syndrome. (992257)
1976
47
Two autopsy cases of diffuse gastrointestinal polyposis with ectodermal changes. Cronkhite-Canada syndrome. (1211385)
1975
48
The Cronkhite-Canada syndrome. (4635110)
1972
49
Radiological aspect of Cronkhite-Canada syndrome. (4664355)
1972
50
Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome). (5808657)
1969

Variations for Cronkhite-Canada Syndrome

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Expression for genes affiliated with Cronkhite-Canada Syndrome

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Expression patterns in normal tissues for genes affiliated with Cronkhite-Canada Syndrome

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Pathways for genes affiliated with Cronkhite-Canada Syndrome

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

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

Compounds for genes affiliated with Cronkhite-Canada Syndrome

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1erlotinib44 50 1111.3ALB, KRAS
2gefitinib44 50 1111.2KRAS, ALB
3irinotecan44 50 1111.2ALB, KRAS
4imatinib44 50 1111.1KRAS, ALB
5lipid449.1ALB, KRAS
6vitamin d449.0ALB, KRAS
7fatty acid448.8KRAS, ALB

GO Terms for genes affiliated with Cronkhite-Canada Syndrome

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

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

Products for genes affiliated with Cronkhite-Canada Syndrome

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Sources for Cronkhite-Canada Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet