MCID: PLY131
MIFTS: 44

Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Categories: Fetal diseases, Gastrointestinal diseases, Immune diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

MalaCards integrated aliases for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

Name: Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 57 12
Cronkhite-Canada Syndrome 57 12 73 58 36 6 15 70
Gastric Cronkhite Canada Polyposis 12 70
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome 58
Polyposis Skin Pigmentation Alopecia Fingernail Changes 20
Gastrointestinal Polyposis-Ectodermal Changes Syndrome 58
Polyposis, Gastrointestinal, with Ectodermal Changes 70
Cronkhite-Canada Disease 20

Characteristics:

Orphanet epidemiological data:

58
cronkhite-canada syndrome
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: elderly;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases

Miscellaneous:
typical onset in adulthood


HPO:

31
polyposis, skin pigmentation, alopecia, and fingernail changes:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

KEGG : 36 Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, hyperpigmentation, and diarrhea. CCS is reported worldwide, with 75% of cases in Japan. The average age of onset is 60 years and the male to female ratio is 3:2. At present, the pathogenesis of CCS is unknown, but the factors that include immune abnormalities, infection, and allergies, may be relevant. There are no evidence-based therapies. Numerous treatments have been attempted in CCS patients, with varying degrees of success. These treatments include glucocorticoids, nutritional support, antibiotics, and polypectomy.

MalaCards based summary : Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes, also known as cronkhite-canada syndrome, is related to gastroduodenitis and eosinophilic gastritis, and has symptoms including vomiting, abdominal pain and cachexia. An important gene associated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes is ATP12A (ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit). Affiliated tissues include colon, skin and tongue, and related phenotypes are malabsorption and hypoplastic toenails

GARD : 20 Cronkhite-Canada syndrome is a rare gastrointestinal disorder 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, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.

OMIM® : 57 Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012). (175500) (Updated 05-Apr-2021)

Wikipedia : 73 Cronkhite-Canada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract. It... more...

Related Diseases for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Diseases related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
# Related Disease Score Top Affiliating Genes
1 gastroduodenitis 30.4 ATP4A ATP12A
2 eosinophilic gastritis 30.4 ATP4A ATP12A
3 intussusception 30.3 STK11 ALB
4 vitamin b12 deficiency 30.2 ATP4A ATP12A
5 eosinophilic gastroenteritis 30.2 ATP12A ALB
6 active peptic ulcer disease 30.0 ATP4A ATP12A ALB
7 exanthem 30.0 ATP4A ATP12A ALB
8 juvenile polyposis syndrome 29.8 STK11 MUTYH BMPR1A
9 microinvasive gastric cancer 29.8 MUC5AC ATP4A ATP12A
10 common cold 29.6 MUC5AC ALB
11 alopecia 10.9
12 dowling-degos disease 1 10.9
13 diarrhea 10.7
14 protein-losing enteropathy 10.6
15 adenoma 10.6
16 intestinal polyposis syndrome 10.4
17 adenocarcinoma 10.4
18 hyperpigmentation of the skin 10.4
19 gastric cancer 10.3
20 membranous nephropathy 10.3
21 rectum cancer 10.3
22 vagus nerve disease 10.3 ATP4A ATP12A
23 necrotizing gastritis 10.3 ATP4A ATP12A
24 proteinuria, chronic benign 10.3
25 gastritis 10.3
26 tubular adenocarcinoma 10.3
27 scalp dermatosis 10.3 ATP4A ATP12A
28 hemangioma of intra-abdominal structure 10.3 ATP4A ATP12A
29 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
30 lingual goiter 10.3 ATP4A ATP12A
31 displacement of cardia through esophageal hiatus 10.3 ATP4A ATP12A
32 bacterial esophagitis 10.3 ATP4A ATP12A
33 cascade stomach 10.3 ATP4A ATP12A
34 benzylpenicillin allergy 10.3 ATP4A ATP12A
35 median arcuate ligament syndrome 10.3 ATP4A ATP12A
36 cervix erosion 10.3 ATP4A ATP12A
37 angiodysplasia of intestine 10.3 ATP4A ATP12A
38 angiodysplasia 10.3 ATP4A ATP12A
39 granulomatous gastritis 10.3 ATP4A ATP12A
40 laryngeal tuberculosis 10.3 ATP4A ATP12A
41 fungal esophagitis 10.3 ATP4A ATP12A
42 dieulafoy lesion 10.2 ATP4A ATP12A
43 esophagus melanoma 10.2 ATP4A ATP12A
44 cefuroxime allergy 10.2 ATP4A ATP12A
45 emphysematous cholecystitis 10.2 ATP4A ATP12A
46 gastric gastrinoma 10.2 ATP4A ATP12A
47 superior mesenteric artery syndrome 10.2 ATP4A ATP12A
48 pneumatosis cystoides intestinalis 10.2 ATP4A ATP12A
49 chronic laryngitis 10.2 ATP4A ATP12A
50 laryngitis 10.2 ATP4A ATP12A

Graphical network of the top 20 diseases related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:



Diseases related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Symptoms & Phenotypes for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Human phenotypes related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
2 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
3 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
4 hamartomatous polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004390
5 intestinal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200008
6 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
7 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
8 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
9 patchy alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002232
10 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
11 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
12 lymphedema 58 31 frequent (33%) Frequent (79-30%) HP:0001004
13 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
14 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
15 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
16 sparse body hair 58 31 frequent (33%) Frequent (79-30%) HP:0002231
17 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
18 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
21 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
22 colon cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0003003
23 gastrointestinal carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002672
24 stomach cancer 58 31 occasional (7.5%) Occasional (29-5%) HP:0012126
25 furrowed tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0000221
26 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
27 seizure 31 occasional (7.5%) HP:0001250
28 hypogeusia 31 occasional (7.5%) HP:0000224
29 alopecia 58 31 Very frequent (99-80%) HP:0001596
30 seizures 58 Occasional (29-5%)
31 muscle weakness 31 HP:0001324
32 vomiting 31 HP:0002013
33 hypokalemia 31 HP:0002900
34 abnormal fingernail morphology 58 Very frequent (99-80%)
35 neoplasm 58 Occasional (29-5%)
36 paresthesia 31 HP:0003401
37 hypocalcemia 31 HP:0002901
38 hematochezia 31 HP:0002573
39 abnormality of skin pigmentation 58 Very frequent (99-80%)
40 nail dysplasia 31 HP:0002164
41 abnormality of the vasculature 58 Frequent (79-30%)
42 nail dystrophy 31 HP:0008404
43 glossitis 31 HP:0000206
44 xerostomia 31 HP:0000217
45 decreased taste sensation 58 Occasional (29-5%)
46 hypomagnesemia 31 HP:0002917
47 hyperpigmentation of the skin 31 HP:0000953
48 thromboembolism 31 HP:0001907
49 protein-losing enteropathy 31 HP:0002243
50 clubbing of fingers 31 HP:0100759

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Gastrointestinal:
malabsorption
vomiting
abdominal pain
anorexia
hematochezia
more
Hematology:
anemia
thromboembolism

Growth Weight:
cachexia

Neoplasia:
gastrointestinal carcinoma

Skeletal Hands:
clubbing of fingers

Skin Nails Hair Nails:
onychodystrophy

Laboratory Abnormalities:
hypokalemia
hypocalcemia
hypomagnesemia

Skin Nails Hair Hair:
alopecia

Neurologic Central Nervous System:
paresthesia
peripheral neuropathy
weakness

Head And Neck Mouth:
glossitis
xerostomia
diminution of sense of taste

Head And Neck Eyes:
cataracts

Skin Nails Hair Skin:
skin hyperpigmentation

Clinical features from OMIM®:

175500 (Updated 05-Apr-2021)

UMLS symptoms related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:


vomiting; abdominal pain; cachexia; diarrhea; weakness

MGI Mouse Phenotypes related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.43 ALB ATP12A ATP4A BMPR1A MUC5AC STK11
2 neoplasm MP:0002006 9.02 ALB ATP4A BMPR1A MUTYH STK11

Drugs & Therapeutics for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Search Clinical Trials , NIH Clinical Center for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Genetic Tests for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Anatomical Context for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

MalaCards organs/tissues related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

40
Colon, Skin, Tongue, Bone, Brain, Liver

Publications for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Articles related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

(show top 50) (show all 311)
# Title Authors PMID Year
1
Clinicopathologic features and treatment outcomes in Cronkhite-Canada syndrome: support for autoimmunity. 57 61
21881972 2012
2
Diffuse gastrointestinal polyposis with ectodermal changes. 57
5917424 1966
3
Diffuse gastrointestinal polyposis with ectodermal changes. A case with severe malabsorption and enteric loss of plasma proteins and electrolytes. 57
5900949 1966
4
Generalized gastrointestinal polyposis; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. 57
14383952 1955
5
Cronkhite–Canada syndrome 61
33714942 2021
6
Cronkhite-Canada syndrome associated with perianal condyloma acuminatum with malignant transformation: A case report. 61
33725896 2021
7
Cronkhite-Canada Syndrome: A Rare COVID-19 Mimicker. 61
33811201 2021
8
A case of Helicobacter pylori-negative gastric cancer associated with Cronkhite-Canada Syndrome. 61
33079335 2021
9
Estimated Prevalence of Cronkhite-Canada Syndrome, Chronic Enteropathy Associated With SLCO2A1 Gene, and Intestinal Behçet's Disease in Japan in 2017: A Nationwide Survey. 61
32092751 2021
10
Clinical and Endoscopic Characteristics of Chinese Cronkhite-Canada Syndrome Patients: A Retrospective Study of 103 cases. 61
33440392 2021
11
Endoscopic features of Cronkhite-Canada syndrome. 61
33445199 2021
12
[Weight loss, diarrhea and dystrophic alterations of the fingernails in an 80-year-old male patient]. 61
33001240 2021
13
Sustained clinical response to infliximab in refractory Cronkhite-Canada syndrome. 61
33370944 2020
14
Cronkhite-Canada Syndrome Associated with Gastric Outlet Obstruction and Membranous Nephropathy: A Case Report and Review of the Literature. 61
32669505 2020
15
Cronkhite-Canada syndrome: from clinical features to treatment. 61
33163187 2020
16
Blue laser imaging in a patient with Cronkhite-Canada syndrome. 61
32311339 2020
17
Cronkhite-Canada Syndrome Successfully Treated by Corticosteroids before Presenting Typical Ectodermal Symptoms. 61
33250698 2020
18
Cronkhite-Canada syndrome in an adult with titanium orthopaedic implants. 61
31961012 2020
19
Ileal intussusception and perforation associated with Cronkhite-Canada syndrome. 61
31628710 2020
20
[Endoscopic features and clinical correlation analysis of 24 patients with Cronkhite-Canada syndrome]. 61
32450645 2020
21
Successful surgical treatment of Cronkhite-Canada Syndrome with bilateral flail chest: a case report. 61
32404137 2020
22
Cronkhite-Canada syndrome: report of a rare case and review of the literature. 61
32459145 2020
23
The Long-Term Clinical and Endoscopic Outcomes of Cronkhite-Canada Syndrome. 61
32352683 2020
24
A case of papilloma-like lesions of the esophagus in Cronkhite-Canada syndrome. 61
31901311 2020
25
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis. 61
31764169 2019
26
Alopecia in Cronkhite-Canada syndrome: Is it truly telogen effluvium? 61
31056741 2019
27
Diarrhoea, Hyperpigmentation and Hamartomatous Polyposis Syndrome. 61
31571463 2019
28
Major duodenal papilla prolapse in Cronkhite-Canada syndrome. 61
30731485 2019
29
A Successful Steroid-Sparing Approach in Cronkhite-Canada Syndrome. 61
31620498 2019
30
Case report of patient with a Cronkhite-Canada syndrome: sustained remission after treatment with corticosteroids and mesalazine. 61
30813906 2019
31
Cronkhite-Canada syndrome causing pouch outlet obstruction 5 years after roux-en-y gastric bypass. 61
29202677 2019
32
Gastrointestinal: Esophageal squamous cell papilloma in a patient with Cronkhite-Canada syndrome. 61
30069941 2018
33
Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient. 61
29877275 2018
34
[Clinicopathologic features of Cronkhite-Canada syndrome and the significance of IgG4-positive plasma cells infiltration]. 61
30317729 2018
35
A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy. 61
30643792 2018
36
Clinical and Endoscopic Remission in a Patient With Cronkhite-Canada Syndrome. 61
29627427 2018
37
Cronkhite-Canada syndrome: A case report. 61
29805581 2018
38
Long-lasting remission in a case of Cronkhite-Canada syndrome. 61
29739761 2018
39
Panendoscopic characterization of Cronkhite-Canada syndrome. 61
29692494 2018
40
Cronkhite-Canada Syndrome Showing Good Early Response to Steroid Treatment. 61
29684974 2018
41
A Case of Adolescent Cronkhite-Canada Syndrome. 61
29511410 2018
42
Sirolimus in Refractory Cronkhite-Canada Syndrome and Focus on Standard Treatment. 61
29619395 2018
43
Cronkhite-Canada Syndrome: Sustained Clinical Response with Anti-TNF Therapy. 61
30057620 2018
44
Cronkhite-Canada Syndrome Associated with Metastatic Colon Cancer. 61
29805353 2018
45
Cronkhite-Canada syndrome. 61
28576394 2017
46
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. 61
29058694 2017
47
Cronkhite-Canada Syndrome with a Major Duodenal Papillary Adenocarcinoma. 61
28924129 2017
48
An unusual case of hamartomatous polyposis with malignancy complication in a patient with ulcerative colitis treated with golimumab. 61
29560650 2017
49
Cronkhite-Canada syndrome associated with colon cancer metastatic to liver: A case report. 61
28930817 2017
50
Alopecia in Cronkhite-Canada syndrome. 61
28833020 2017

Variations for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

ClinVar genetic disease variations for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI3 NM_000168.6(GLI3):c.4436T>C (p.Leu1479Ser) SNV Uncertain significance 375468 rs1057519504 GRCh37: 7:42004235-42004235
GRCh38: 7:41964637-41964637

Expression for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Search GEO for disease gene expression data for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes.

Pathways for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

GO Terms for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Biological processes related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion import across plasma membrane GO:1990573 9.32 ATP4A ATP12A
2 cellular sodium ion homeostasis GO:0006883 9.26 ATP4A ATP12A
3 sodium ion export across plasma membrane GO:0036376 9.16 ATP4A ATP12A
4 cellular potassium ion homeostasis GO:0030007 8.96 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.62 ATP4A ATP12A

Molecular functions related to Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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