MCID: PLY131
MIFTS: 36

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:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

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

Name: Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 52
Cronkhite-Canada Syndrome 11 54 13 68
Gastric Cronkhite Canada Polyposis 11 68
Gastrointestinal Polyposis-Skin Pigmentation-Alopecia-Fingernail Changes Syndrome 54
 
Polyposis Skin Pigmentation Alopecia Fingernail Changes 48
Gastrointestinal Polyposis-Ectodermal Changes Syndrome 54
Polyposis, Gastrointestinal, with Ectodermal Changes 68
Cronkhite-Canada Disease 48

Characteristics:

Orphanet epidemiological data:

54
cronkhite-canada syndrome:
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: elderly

HPO:

64
polyposis, skin pigmentation, alopecia, and fingernail changes:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 175500
Disease Ontology11 DOID:6225
NCIt45 C7035
Orphanet54 ORPHA2930
ICD10 via Orphanet31 D12.6
UMLS via Orphanet69 C0282207

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

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NIH Rare Diseases:48 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 is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, colon and tongue, and related mouse phenotypes are digestive/alimentary and homeostasis/metabolism.

OMIM:52 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 117)
idRelated DiseaseScoreTop Affiliating Genes
1diarrhea30.0ATP12A, ATP4A
2macular dystrophy, retinal, 1, north carolina type10.6BMPR1A, PTEN
3chromosome 15q24 deletion syndrome10.6BMPR1A, PTEN
4glioma susceptibility 210.5BMPR1A, PTEN
5horner's syndrome10.4ALB, SERPINA1
6hyperuricemia10.4ALB, SERPINA1
7duodenal disease10.4ALB, SERPINA1
8acute gonococcal cervicitis10.3ALB, SERPINA1
9pediatric meningioma10.3MUC2, SERPINA1
10orofaciodigital syndrome vii10.3ALB, SERPINA1
11glomerulosclerosis, focal segmental, 710.3BMPR1A, PTEN
12unilateral hyperactive labyrinth10.3ALB, ATP4A
13sweat gland cancer10.3ALB, SERPINA1
14gastric cancer10.3
15embryonal rhabdomyosarcoma10.3ALB, ATP4A
16nephronophthisis10.3ALB, ATP4A
17parathyroid gland disease10.3ALB, ATP4A
18pylorus cancer10.2ALB, ATP4A
19adenoma10.2
20fissured tongue10.2ATP12A, ATP4A
21lens subluxation10.2ATP12A, ATP4A
22scrotum squamous cell carcinoma10.2ATP12A, ATP4A
23posterior cerebral artery infarction10.2ATP12A, ATP4A
24encephalitis10.2ATP12A, ATP4A
25breast cystic hypersecretory carcinoma10.2ATP12A, ATP4A
26cryptogenic organizing pneumonia10.2ALB, ATP4A
27pseudomyxoma peritonei10.2ATP12A, ATP4A
28protein-energy malnutrition10.2ATP12A, ATP4A
29focal hand dystonia10.2ATP12A, ATP4A
30rheumatic fever10.2ATP12A, ATP4A
31epididymo-orchitis10.2ATP12A, ATP4A
32skeletal muscle cancer10.2ATP12A, ATP4A
33tooth ankylosis10.2ATP12A, ATP4A
34uvula cancer10.2ATP12A, ATP4A
35fasciitis10.2ATP12A, ATP4A
36ileocolitis10.2ATP12A, ATP4A
37bacterial gastritis10.2ATP12A, ATP4A
38spinocerebellar ataxia 1810.2ATP12A, ATP4A
39cubitus valgus with mental retardation and unusual facies10.2ATP12A, ATP4A
40ring staphyloma10.2ATP12A, ATP4A
41alopecia10.2
42protein-losing enteropathy10.2
43pituitary carcinoma10.2ATP12A, ATP4A
44allergic urticaria10.1ATP12A, ATP4A
45gallbladder papillomatosis10.1ALB, MUC2, PTEN
4612p12.1 microdeletion syndrome10.1MUC2, MUC5AC
47anal spasm10.1ATP12A, ATP4A
48chronic progressive external ophthalmoplegia10.1ALB, CABIN1
49glottis squamous cell carcinoma10.1MUC2, MUC5AC
50central nervous system adult germ cell tumor10.1ALB, 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

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Symptoms by clinical synopsis from OMIM:

175500

Clinical features from OMIM:

175500

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

 64 54 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
2 alopecia64 54 hallmark (90%) Very frequent (99-80%) HP:0001596
3 hypoplastic toenails64 54 hallmark (90%) Very frequent (99-80%) HP:0001800
4 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
5 neoplasm of the stomach64 hallmark (90%) HP:0006753
6 generalized hyperpigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007440
7 neoplasm of the colon64 hallmark (90%) HP:0100273
8 abnormality of nail color64 hallmark (90%) HP:0100643
9 intestinal polyposis64 54 hallmark (90%) Very frequent (99-80%) HP:0200008
10 lymphedema64 54 typical (50%) Frequent (79-30%) HP:0001004
11 hypopigmented skin patches64 typical (50%) HP:0001053
12 anemia64 54 typical (50%) Frequent (79-30%) HP:0001903
13 abdominal pain64 54 typical (50%) Frequent (79-30%) HP:0002027
14 anorexia64 54 typical (50%) Frequent (79-30%) HP:0002039
15 gastrointestinal hemorrhage64 typical (50%) HP:0002239
16 autoimmunity64 typical (50%) HP:0002960
17 neoplasm of the small intestine64 typical (50%) HP:0100833
18 aplasia/hypoplasia of the eyebrow64 54 typical (50%) Frequent (79-30%) HP:0100840
19 furrowed tongue64 54 occasional (7.5%) Occasional (29-5%) HP:0000221
20 macrocephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000256
21 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
22 hypothyroidism64 occasional (7.5%) HP:0000821
23 tapered finger64 54 occasional (7.5%) Occasional (29-5%) HP:0001182
24 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
25 congestive heart failure64 occasional (7.5%) HP:0001635
26 splenomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0001744
27 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
28 hypoproteinemia64 occasional (7.5%) HP:0003075
29 paresthesia64 occasional (7.5%) HP:0003401
30 decreased body weight64 occasional (7.5%) HP:0004325
31 abnormality of the sense of smell64 occasional (7.5%) HP:0004408
32 feeding difficulties in infancy64 occasional (7.5%) HP:0008872
33 glomerulopathy64 occasional (7.5%) HP:0100820
34 glossitis64 HP:0000206
35 xerostomia64 HP:0000217
36 hyperpigmentation of the skin64 HP:0000953
37 clubbing64 HP:0001217
38 muscle weakness64 HP:0001324
39 thromboembolism64 HP:0001907
40 vomiting64 HP:0002013
41 diarrhea64 54 Very frequent (99-80%) HP:0002014
42 nail dysplasia64 HP:0002164
43 protein-losing enteropathy64 HP:0002243
44 hematochezia64 HP:0002573
45 gastrointestinal carcinoma64 54 Occasional (29-5%) HP:0002672
46 hypokalemia64 HP:0002900
47 hypocalcemia64 HP:0002901
48 hypomagnesemia64 HP:0002917
49 cachexia64 54 Frequent (79-30%) HP:0004326
50 hamartomatous polyposis64 54 Very frequent (99-80%) HP:0004390
51 nail dystrophy64 HP:0008404
52 clubbing of fingers64 HP:0100759
53 decreased taste sensation54 Occasional (29-5%)
54 abnormality of skin pigmentation54 Very frequent (99-80%)
55 dystrophic toenail54 Very frequent (99-80%)
56 sparse body hair54 Frequent (79-30%)
57 patchy alopecia54 Very frequent (99-80%)
58 abnormality of the vasculature54 Frequent (79-30%)
59 neoplasm54 Occasional (29-5%)
60 colon cancer54 Occasional (29-5%)
61 dystrophic fingernails54 Very frequent (99-80%)
62 stomach cancer54 Occasional (29-5%)
63 fatigue54 Frequent (79-30%)

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

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.2ALB, ATP12A, ATP4A, MUC2, MUC5AC, PTEN
2MP:00053767.1ALB, ATP12A, ATP4A, BMPR1A, MUC2, MUC5AC

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:

36
Skin, Colon, Tongue, Small intestine, Heart

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
19.3ALB, 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:00310939.6ALB, 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
1ATP hydrolysis coupled proton transportGO:001599110.0ATP12A, ATP4A
2cellular potassium ion homeostasisGO:003000710.0ATP12A, ATP4A
3cellular sodium ion homeostasisGO:000688310.0ATP12A, ATP4A
4establishment or maintenance of transmembrane electrochemical gradientGO:001024810.0ATP12A, ATP4A
5O-glycan processingGO:00162669.7MUC2, MUC5AC
6potassium ion importGO:00101079.7ATP12A, ATP4A
7sodium ion export from cellGO:00363769.4ATP12A, ATP4A

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen:potassium-exchanging ATPase activityGO:00089009.7ATP12A, ATP4A
2sodium:potassium-exchanging ATPase activityGO:00053919.4ATP12A, ATP4A

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet