MCID: PLY131
MIFTS: 54

Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

Categories: Fetal diseases, Gastrointestinal 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 59 37 6 15 73
Gastric Cronkhite Canada Polyposis 12 73
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome 59
Polyposis Skin Pigmentation Alopecia Fingernail Changes 53
Gastrointestinal Polyposis-Ectodermal Changes Syndrome 59
Polyposis, Gastrointestinal, with Ectodermal Changes 73
Cronkhitecanada Syndrome 76
Cronkhite-Canada Disease 53

Characteristics:

Orphanet epidemiological data:

59
cronkhite-canada syndrome
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: elderly;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
typical onset in adulthood


HPO:

32
polyposis, skin pigmentation, alopecia, and fingernail changes:
Inheritance sporadic


Classifications:



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

NIH Rare Diseases : 53 Cronkhite-Canada syndromeis 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.

MalaCards based summary : Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes, also known as cronkhite-canada syndrome, is related to protein-losing enteropathy and alopecia, and has symptoms including vomiting, abdominal pain and cachexia. An important gene associated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes is BMPR1A (Bone Morphogenetic Protein Receptor Type 1A), and among its related pathways/superpathways are Diseases of glycosylation and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, colon and small intestine, and related phenotypes are macrocephaly and seizures

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)

Wikipedia : 76 Cronkhite�??Canada syndrome is a rare syndrome characterized by multiple polyps of the digestive tract.... 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 165)
# Related Disease Score Top Affiliating Genes
1 protein-losing enteropathy 30.8 ALB SERPINA1
2 alopecia 10.4
3 gastric cancer 10.4
4 adenocarcinoma 10.3
5 adenoma 10.3
6 chromosome 10q23 deletion syndrome 10.3 PTEN BMPR1A
7 juvenile polyposis of infancy 10.3 BMPR1A PTEN
8 gastritis, familial giant hypertrophic 10.3 ALB SERPINA1
9 constrictive pericarditis 10.2 ALB SERPINA1
10 laryngitis 10.2 ATP12A ATP4A
11 hepatic tuberculosis 10.2 ALB SERPINA1
12 fungal esophagitis 10.2 ATP4A ATP12A
13 diclofenac allergy 10.2 ATP12A ATP4A
14 gastroduodenal crohn's disease 10.2 ATP12A ATP4A
15 neonatal candidiasis 10.2 ATP12A ATP4A
16 photoallergic dermatitis 10.2 ATP12A ATP4A
17 squamous papillomatosis 10.2 ATP12A ATP4A
18 toxic megacolon 10.2 ATP12A ATP4A
19 aspiration pneumonitis 10.2 ATP12A ATP4A
20 gastrointestinal neuroendocrine benign tumor 10.2 ATP12A ATP4A
21 gastric antral vascular ectasia 10.2 ATP12A ATP4A
22 granulomatous gastritis 10.2 ATP12A ATP4A
23 esophageal candidiasis 10.2 ATP12A ATP4A
24 gastric neuroendocrine neoplasm 10.2 ATP12A ATP4A
25 macrocephaly/autism syndrome 10.2 GPC3 PTEN
26 acute laryngitis 10.2 ATP12A ATP4A
27 duodenitis 10.2 ATP12A ATP4A
28 rumination disorder 10.2 ATP12A ATP4A
29 active peptic ulcer disease 10.2 ATP12A ATP4A
30 congenital disorder of deglycosylation 10.2 ATP12A ATP4A
31 bladder calculus 10.2 ATP12A ATP4A
32 peptic esophagitis 10.2 ATP12A ATP4A
33 drug allergy 10.2 ALB ATP12A
34 thrombosis 10.2
35 diarrhea 10.2
36 hypothyroidism 10.2
37 dyskinesia of esophagus 10.2 ATP12A ATP4A
38 hernia, hiatus 10.2 ATP12A ATP4A
39 anismus 10.2 ATP12A ATP4A
40 postsurgical hypothyroidism 10.2 ATP12A ATP4A
41 lymphocytic colitis 10.2 ATP12A ATP4A
42 esophageal atresia/tracheoesophageal fistula 10.2 ATP12A ATP4A
43 clostridium difficile colitis 10.2 ATP12A ATP4A
44 diarrhea 1, secretory chloride, congenital 10.2 ATP12A ATP4A
45 laryngeal tuberculosis 10.2 ATP12A ATP4A
46 eosinophilic gastritis 10.2 ATP12A ATP4A
47 duodenum adenocarcinoma 10.2 CDX2 MUC2
48 chronic intestinal vascular insufficiency 10.2 ATP12A ATP4A
49 ovarian mucinous adenocarcinoma 10.2 CDX2 MUC2
50 ovarian endodermal sinus tumor 10.2 GPC3 SERPINA1

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
malabsorption
vomiting
abdominal pain
anorexia
diarrhea
more
Hematology:
anemia
thromboembolism

Skin Nails Hair Hair:
alopecia

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

Skeletal Hands:
clubbing of fingers

Skin Nails Hair Nails:
onychodystrophy

Laboratory Abnormalities:
hypokalemia
hypocalcemia
hypomagnesemia

Neurologic Central Nervous System:
peripheral neuropathy
paresthesia
weakness

Growth Weight:
cachexia

Neoplasia:
gastrointestinal carcinoma

Head And Neck Eyes:
cataracts

Skin Nails Hair Skin:
skin hyperpigmentation


Clinical features from OMIM:

175500

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

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
5 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
6 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
7 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
8 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
9 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
10 lymphedema 59 32 frequent (33%) Frequent (79-30%) HP:0001004
11 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
12 alopecia 59 32 Very frequent (99-80%) HP:0001596
13 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
14 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
15 colon cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0003003
16 abnormality of the vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0002597
17 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
18 sparse body hair 59 32 frequent (33%) Frequent (79-30%) HP:0002231
19 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
20 intestinal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200008
21 gastrointestinal carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002672
22 stomach cancer 59 32 occasional (7.5%) Occasional (29-5%) HP:0012126
23 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
24 furrowed tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0000221
25 hamartomatous polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004390
26 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
27 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
28 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
29 decreased taste sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0000224
30 patchy alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002232
31 muscle weakness 32 HP:0001324
32 vomiting 32 HP:0002013
33 hypokalemia 32 HP:0002900
34 thromboembolism 32 HP:0001907
35 neoplasm 59 Occasional (29-5%)
36 nail dystrophy 32 HP:0008404
37 abnormality of the fingernails 59 Very frequent (99-80%)
38 paresthesia 32 HP:0003401
39 xerostomia 32 HP:0000217
40 hypocalcemia 32 HP:0002901
41 hematochezia 32 HP:0002573
42 nail dysplasia 32 HP:0002164
43 abnormality of skin pigmentation 59 Very frequent (99-80%)
44 glossitis 32 HP:0000206
45 hyperpigmentation of the skin 32 HP:0000953
46 protein-losing enteropathy 32 HP:0002243
47 clubbing of fingers 32 HP:0100759
48 hypomagnesemia 32 HP:0002917
49 clubbing 32 HP:0001217

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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.22 ALB ATP12A ATP4A CDX2 GPC3 KRT19
2 cardiovascular system MP:0005385 10.1 BMPR1A CDX2 GPC3 KRT19 KRT8 MUC2
3 growth/size/body region MP:0005378 10.06 ATP12A BMPR1A CDX2 GPC3 KRT19 KRT8
4 homeostasis/metabolism MP:0005376 10.06 ALB ATP12A ATP4A BMPR1A CDX2 GPC3
5 embryo MP:0005380 10 BMPR1A CDX2 GPC3 KRT19 KRT8 PTEN
6 endocrine/exocrine gland MP:0005379 9.98 ALB ATP4A BMPR1A CDX2 KRT19 MUC2
7 hematopoietic system MP:0005397 9.97 ATP4A BMPR1A CABIN1 GPC3 KRT8 MUC2
8 immune system MP:0005387 9.91 ATP4A BMPR1A CABIN1 GPC3 KRT8 MUC2
9 mortality/aging MP:0010768 9.9 ALB ATP4A BMPR1A CABIN1 CDX2 GPC3
10 neoplasm MP:0002006 9.5 ALB ATP4A BMPR1A CDX2 KRT19 MUC2
11 reproductive system MP:0005389 9.17 BMPR1A CDX2 GPC3 KRT19 KRT8 PTEN

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:

41
Skin, Colon, Small Intestine, Liver, Tongue, Pancreas, Thymus

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

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

(show top 50) (show all 199)
# Title Authors Year
1
Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient: A Case Report. ( 29877275 )
2018
2
Gastrointestinal: Esophageal squamous cell papilloma in a patient with Cronkhite-Canada syndrome. ( 30069941 )
2018
3
Cronkhite-Canada Syndrome Associated with Metastatic Colon Cancer. ( 29805353 )
2018
4
Cronkhite-Canada Syndrome: Sustained Clinical Response with Anti-TNF Therapy. ( 30057620 )
2018
5
A striking flail chest: a rare manifestation in Cronkhite-Canada syndrome. ( 30541226 )
2018
6
A Case of Adolescent Cronkhite-Canada Syndrome. ( 29511410 )
2018
7
Sirolimus in Refractory Cronkhite-Canada Syndrome and Focus on Standard Treatment. ( 29619395 )
2018
8
Clinical and Endoscopic Remission in a Patient With Cronkhite-Canada Syndrome. ( 29627427 )
2018
9
Cronkhite-Canada Syndrome Showing Good Early Response to Steroid Treatment. ( 29684974 )
2018
10
Panendoscopic characterization of Cronkhite-Canada syndrome. ( 29692494 )
2018
11
Long-lasting remission in a case of Cronkhite-Canada syndrome. ( 29739761 )
2018
12
Cronkhite-Canada syndrome: A case report. ( 29805581 )
2018
13
Cronkhite-Canada syndrome associated with colon cancer metastatic to liver: A case report. ( 28930817 )
2017
14
Alopecia in Cronkhite-Canada syndrome. ( 28833020 )
2017
15
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhea. ( 28725309 )
2017
16
Cronkhite-Canada Syndrome with a Major Duodenal Papillary Adenocarcinoma. ( 28924129 )
2017
17
Cronkhite Canada syndrome complicated by pulmonary embolism-A case report. ( 27898350 )
2017
18
Case report-malignant transformation in Cronkhite-Canada syndrome polyp. ( 28178153 )
2017
19
Cronkhite-Canada syndrome. ( 28576394 )
2017
20
Application of novel magnified single balloon enteroscopy for a patient with Cronkhite-Canada syndrome. ( 28652665 )
2017
21
Nail Matrix Pathology in Cronkhite-Canada Syndrome: The First Case Report. ( 29058694 )
2017
22
Cronkhite-Canada syndrome causing pouch outlet obstruction 5 years after roux-en-y gastric bypass. ( 29202677 )
2017
23
Cronkhite-Canada syndrome - A Case report. ( 27466534 )
2016
24
Small-bowel video capsule endoscopic findings of Cronkhite-Canada syndrome. ( 27102834 )
2016
25
Alopecia areata incognita in Cronkhite-Canada Syndrome. ( 28029683 )
2016
26
Cronkhite- Canada syndrome; a case report and review of the literature. ( 26744616 )
2016
27
Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhoea in a Young Man. ( 26941798 )
2016
28
Cronkhite Canada Syndrome: Significant Response to Infliximab and a Possible Clue to Pathogenesis. ( 27151126 )
2016
29
Cronkhite-Canada syndrome: a rare case report and literature review. ( 26911542 )
2016
30
Difficult case of Cronkhite-Canada syndrome with small intestinal bacterial overgrowth, Clostridium difficile infection and polymyalgia rheumatica. ( 26818813 )
2016
31
Polyps! Polyps! And More Polyps! - The First Case of Cronkhite-Canada Syndrome in Malaysia. ( 27130745 )
2016
32
Steroid Responsive Mononeuritis Multiplex in the Cronkhite-Canada Syndrome. ( 27899913 )
2016
33
Cronkhite-Canada Syndrome Complicated by Triple Primary Cancers. ( 27301507 )
2016
34
Cronkhite-Canada syndrome polyps infiltrated with IgG4-positive plasma cells. ( 27574615 )
2016
35
Effectiveness of cyclosporine as a treatment for steroid-resistant Cronkhite-Canada syndrome; two case reports. ( 27716071 )
2016
36
Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations. ( 26094686 )
2015
37
Cases Report the Cronkhite-Canada Syndrome: Improving the Prognosis. ( 26717374 )
2015
38
Cronkhite-Canada syndrome showing elevated levels of antinuclear and anticentromere antibody. ( 25518819 )
2015
39
Cronkhite-Canada Syndrome (CCS)-A Rare Case Report. ( 25954656 )
2015
40
A case of recurrent cronkhite-Canada syndrome containing colon cancer. ( 25785317 )
2015
41
Endoscopic and clinical evaluation of treatment and prognosis of Cronkhite-Canada syndrome: a Japanese nationwide survey. ( 26216651 )
2015
42
A Case of Cronkhite-Canada Syndrome with a Colitis-mimicking Endoscopic Presentation. ( 26363517 )
2015
43
Innovative video capsule endoscopy for detection of ubiquitously elongated small intestinal villi in Cronkhite-Canada syndrome. ( 24729822 )
2014
44
The Challenging Diagnosis of Cronkhite-Canada Syndrome in the Upper Gastrointestinal Tract: A Series of 7 Cases With Clinical Follow-up. ( 24418855 )
2014
45
Cronkhite-Canada syndrome associated with esophageal and gastric cancers: report of a case. ( 25008327 )
2014
46
Successful treatment of Cronkhite-Canada syndrome using anti-tumor necrosis factor antibody therapy. ( 25314205 )
2014
47
Cronkhite-Canada syndrome: report of six cases and review of literature. ( 24966624 )
2014
48
Cronkhite-Canada Syndrome: an unusual finding of gastro-intestinal adenomatous polyps in a syndrome characterized by hamartomatous polyps. ( 24982130 )
2014
49
Cronkhite-Canada syndrome six decades on: the many faces of an enigmatic disease. ( 25004941 )
2014
50
Vitiligo: an unusual finding in Cronkhite-Canada syndrome. ( 23957598 )
2013

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 NM_000168.5(GLI3): c.4436T> C (p.Leu1479Ser) single nucleotide variant Uncertain significance rs1057519504 GRCh38 Chromosome 7, 41964637: 41964637
2 GLI3 NM_000168.5(GLI3): c.4436T> C (p.Leu1479Ser) single nucleotide variant Uncertain significance rs1057519504 GRCh37 Chromosome 7, 42004235: 42004235

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 GPC3 MUC2 MUC5AC
2 11.15 ALB BMPR1A CDX2 KRT19 SERPINA1

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

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

# Name GO ID Score Top Affiliating Genes
1 costamere GO:0043034 9.26 KRT19 KRT8
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 KRT19 KRT8
3 Golgi lumen GO:0005796 9.13 GPC3 MUC2 MUC5AC
4 apicolateral plasma membrane GO:0016327 8.8 KRT19 KRT8 THBD

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 ATP hydrolysis coupled proton transport GO:0015991 9.37 ATP12A ATP4A
2 cellular sodium ion homeostasis GO:0006883 9.32 ATP12A ATP4A
3 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.26 ATP12A ATP4A
4 cellular potassium ion homeostasis GO:0030007 9.16 ATP12A ATP4A
5 sodium ion export across plasma membrane GO:0036376 8.96 ATP12A ATP4A
6 cell differentiation involved in embryonic placenta development GO:0060706 8.62 KRT19 KRT8

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 8.96 ATP12A ATP4A
2 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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