MCID: PLY131
MIFTS: 39

Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes malady

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

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

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 66UMLS, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes:

Name: Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 50
Cronkhite-Canada Syndrome 11 13 52 66
Gastric Cronkhite Canada Polyposis 11 66
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome 52
 
Polyposis Skin Pigmentation Alopecia Fingernail Changes 46
Gastrointestinal Polyposis-Ectodermal Changes Syndrome 52
Polyposis, Gastrointestinal, with Ectodermal Changes 66
Cronkhite-Canada Disease 46

Characteristics:

Orphanet epidemiological data:

52
cronkhite-canada syndrome:
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: elderly

HPO:

62
polyposis, skin pigmentation, alopecia, and fingernail changes:
Inheritance: sporadic


Classifications:



External Ids:

OMIM50 175500
Disease Ontology11 DOID:6225
NCIt43 C7035
Orphanet52 ORPHA2930
UMLS via Orphanet67 C0282207
ICD10 via Orphanet29 D12.6

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

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NIH Rare Diseases:46 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. last updated: 5/31/2015

MalaCards based summary: Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes, also known as cronkhite-canada syndrome, is related to diarrhea and macular dystrophy, retinal, 1, north carolina type, and has symptoms including abnormality of the fingernails, alopecia and hypoplastic toenails. 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 are Defective GALNT12 causes colorectal cancer 1 (CRCS1) and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, colon and tongue, and related mouse phenotypes are neoplasm and endocrine/exocrine gland.

OMIM:50 Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy,... (175500) more...

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

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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 115)
idRelated DiseaseScoreTop Affiliating Genes
1diarrhea30.1ATP12A, ATP4A
2macular dystrophy, retinal, 1, north carolina type10.6BMPR1A, PTEN
3chromosome 15q24 deletion syndrome10.6BMPR1A, PTEN
4glioma susceptibility 210.5BMPR1A, PTEN
5gastric cancer10.4
6glomerulosclerosis, focal segmental, 710.4BMPR1A, PTEN
7adenoma10.4
8horner's syndrome10.3ALB, SERPINA1
9hyperuricemia10.3ALB, SERPINA1
10duodenal disease10.3ALB, SERPINA1
11acute gonococcal cervicitis10.3ALB, SERPINA1
12orofaciodigital syndrome vii10.3ALB, SERPINA1
13protein-losing enteropathy10.3
14pediatric meningioma10.3MUC2, SERPINA1
15unilateral hyperactive labyrinth10.2ALB, ATP4A
16embryonal rhabdomyosarcoma10.2ALB, ATP4A
17sweat gland cancer10.2ALB, SERPINA1
18alopecia10.2
19nephronophthisis10.2ALB, ATP4A
20parathyroid gland disease10.2ALB, ATP4A
21pylorus cancer10.2ALB, ATP4A
22fissured tongue10.2ATP12A, ATP4A
23lens subluxation10.2ATP12A, ATP4A
24scrotum squamous cell carcinoma10.2ATP12A, ATP4A
25posterior cerebral artery infarction10.2ATP12A, ATP4A
26encephalitis10.2ATP12A, ATP4A
27breast cystic hypersecretory carcinoma10.2ATP12A, ATP4A
28amyotrophic lateral sclerosis type 210.2ATP12A, ATP4A
29pseudomyxoma peritonei10.2ATP12A, ATP4A
30protein-energy malnutrition10.2ATP12A, ATP4A
31postmenopausal atrophic vaginitis10.2ATP12A, ATP4A
32cryptogenic organizing pneumonia10.2ALB, ATP4A
33focal hand dystonia10.2ATP12A, ATP4A
34rheumatic fever10.2ATP12A, ATP4A
35epididymo-orchitis10.2ATP12A, ATP4A
36skeletal muscle cancer10.2ATP12A, ATP4A
37tooth ankylosis10.2ATP12A, ATP4A
38uvula cancer10.1ATP12A, ATP4A
39fasciitis10.1ATP12A, ATP4A
40ileocolitis10.1ATP12A, ATP4A
41hypothyroidism10.1
42adenocarcinoma10.1
43fallopian tube carcinoma10.1ALB, MUC2
44lipoma of the rectum10.1BMPR1A, PTEN
45tumor predisposition syndrome10.1BMPR1A, PTEN
4612p12.1 microdeletion syndrome10.1MUC2, MUC5AC
47bacterial gastritis10.1ATP12A, ATP4A
48spinocerebellar ataxia 1810.1ATP12A, ATP4A
49cubitus valgus with mental retardation and unusual facies10.1ATP12A, ATP4A
50glottis squamous cell carcinoma10.1MUC2, MUC5AC

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 for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

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Symptoms by clinical synopsis from OMIM:

175500

Clinical features from OMIM:

175500

Symptoms:

 52 (show all 33)
  • furrowed tongue
  • decreased taste sensation
  • macrocephaly
  • cataract
  • abnormality of skin pigmentation
  • lymphedema
  • tapered finger
  • abnormality of the fingernails
  • seizures
  • alopecia
  • splenomegaly
  • hypoplastic toenails
  • dystrophic toenail
  • anemia
  • diarrhea
  • malabsorption
  • abdominal pain
  • anorexia
  • sparse body hair
  • patchy alopecia
  • hepatomegaly
  • abnormality of the vasculature
  • neoplasm
  • gastrointestinal carcinoma
  • colon cancer
  • cachexia
  • hamartomatous polyposis
  • generalized hyperpigmentation
  • dystrophic fingernails
  • stomach cancer
  • fatigue
  • aplasia/hypoplasia of the eyebrow
  • intestinal polyposis

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

(show all 59)
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 cachexia HP:0004326
57 hamartomatous polyposis HP:0004390
58 nail dystrophy HP:0008404
59 clubbing of fingers HP:0100759

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


abdominal pain, cachexia, diarrhea, vomiting, umbilical discharge, fat intolerance, osler's node, abnormal granulation tissue, skin symptom, weakness

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

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Interventional clinical trials:

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

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

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

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

34
Skin, Colon, Tongue, Small intestine, Heart

Animal Models for Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0ALB, BMPR1A, MUC2, PTEN
2MP:00053798.0ALB, ATP4A, BMPR1A, MUC2, PTEN
3MP:00053817.3ALB, ATP12A, ATP4A, MUC2, MUC5AC, PTEN
4MP:00053766.9ALB, ATP12A, ATP4A, BMPR1A, MUC2, MUC5AC

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

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

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Expression for genes affiliated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

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

Pathways for genes affiliated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2MUC2, MUC5AC
29.2ALB, BMPR1A, SERPINA1

GO Terms for genes affiliated with Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.5ALB, SERPINA1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1potassium ion importGO:00101079.6ATP12A, ATP4A
2sodium ion export from cellGO:00363769.6ATP12A, ATP4A
3ATP hydrolysis coupled proton transportGO:00159919.5ATP12A, ATP4A
4establishment or maintenance of transmembrane electrochemical gradientGO:00102489.4ATP12A, ATP4A
5O-glycan processingGO:00162669.2MUC2, MUC5AC
6cellular sodium ion homeostasisGO:00068839.2ATP12A, ATP4A
7cellular potassium ion homeostasisGO:00300079.0ATP12A, ATP4A

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

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:00053919.7ATP12A, ATP4A
2hydrogen:potassium-exchanging ATPase activityGO:00089009.6ATP12A, ATP4A
3glycoprotein bindingGO:00019489.6BMPR1A, SERPINA1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet