MCID: PLY131
MIFTS: 34

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 mucositis and vasculitis, and has symptoms including abdominal pain, cachexia and diarrhea. 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 114)
idRelated DiseaseScoreTop Affiliating Genes
1mucositis29.9ATP12A, ATP4A
2vasculitis29.9ATP12A, ATP4A
3chromosome 16p12.1 deletion syndrome, 520kb10.3BMPR1A, PTEN
4rhizomelic dysplasia, patterson-lowry type10.3BMPR1A, PTEN
5pierre robin syndrome and oligodactyly10.3BMPR1A, PTEN
6macrocephaly/autism syndrome10.3BMPR1A, PTEN
7gastric cancer10.3
8temporal arteritis10.2ALB, BMPR1A
9adenoma10.2
10glomerulosclerosis, focal segmental, 710.2BMPR1A, PTEN
11chromosome 18 pericentric inversion10.2ALB, SERPINA1
12acrofacial dysostosis, patagonia type10.2ALB, SERPINA1
13idiopathic peripheral autonomic neuropathy10.2ALB, SERPINA1
14bile duct cystadenocarcinoma10.2ALB, SERPINA1
15acute cervicitis10.2ALB, SERPINA1
16klinefelter's syndrome10.2ALB, SERPINA1
17vulvar sarcoma10.2ALB, SERPINA1
18vascular disease10.2ALB, ATP4A
19pleomorphic rhabdomyosarcoma10.2ALB, ATP4A
20chronic gonococcal salpingitis10.1ALB, ATP4A
21functional diarrhea10.1ATP12A, ATP4A
22alopecia10.1
23protein-losing enteropathy10.1
24scrotum melanoma10.1ATP12A, ATP4A
25congenital diaphragmatic hernia10.1ATP12A, ATP4A
26secondary syphilis10.1ATP12A, ATP4A
27brain edema10.1ATP12A, ATP4A
28intracranial hypertension10.1ATP12A, ATP4A
29staphyloenterotoxemia10.1ATP12A, ATP4A
30microphthalmia, syndromic 1210.1ATP12A, ATP4A
31inhalation anthrax10.1ALB, ATP4A
32angelucci's syndrome10.1ALB, ATP4A
33ceruminoma10.1ATP12A, ATP4A
34amyotrophic lateral sclerosis type 1010.1ATP12A, ATP4A
35abnormal pupillary function10.1ATP12A, ATP4A
36adult extraosseous chondrosarcoma10.1ATP12A, ATP4A
37thrombocytopenia due to platelet alloimmunization10.1ATP12A, ATP4A
38oculogyric crisis10.1ATP12A, ATP4A
39liver rhabdomyosarcoma10.1ATP12A, ATP4A
40mednik syndrome10.1ATP12A, ATP4A
41intravascular fasciitis10.1ATP12A, ATP4A
42cubitus valgus with mental retardation and unusual facies10.1ATP12A, ATP4A
43intestinal benign neoplasm10.1MUC2, PTEN, SERPINA1
44bladder neck cancer10.1ATP12A, ATP4A
45acquired hemangioma10.1ATP12A, ATP4A
46gastroduodenal crohn's disease10.1ATP12A, ATP4A
47lymphocytic gastritis10.1ATP12A, ATP4A
48choroid epithelioid cell melanoma10.1MUC2, MUC5AC
49proctitis10.1ALB, MUC2, PTEN
50mesenteric vascular occlusion10.1ATP12A, ATP4A

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:

 54 64 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 furrowed tongue64 54 Occasional (29-5%) HP:0000221
2 decreased taste sensation64 54 Occasional (29-5%) HP:0000224
3 macrocephaly64 54 Occasional (29-5%) HP:0000256
4 cataract64 54 Occasional (29-5%) HP:0000518
5 abnormality of skin pigmentation54 Very frequent (99-80%)
6 lymphedema64 54 Frequent (79-30%) HP:0001004
7 tapered finger64 54 Occasional (29-5%) HP:0001182
8 abnormality of the fingernails54 Very frequent (99-80%)
9 seizures64 54 Occasional (29-5%) HP:0001250
10 alopecia64 54 Very frequent (99-80%) HP:0001596
11 splenomegaly64 54 Occasional (29-5%) HP:0001744
12 hypoplastic toenails64 54 Very frequent (99-80%) HP:0001800
13 dystrophic toenail64 54 Very frequent (99-80%) HP:0001810
14 anemia64 54 Frequent (79-30%) HP:0001903
15 diarrhea64 54 Very frequent (99-80%) HP:0002014
16 malabsorption64 54 Very frequent (99-80%) HP:0002024
17 abdominal pain64 54 Frequent (79-30%) HP:0002027
18 anorexia64 54 Frequent (79-30%) HP:0002039
19 sparse body hair64 54 Frequent (79-30%) HP:0002231
20 patchy alopecia64 54 Very frequent (99-80%) HP:0002232
21 hepatomegaly64 54 Occasional (29-5%) HP:0002240
22 abnormality of the vasculature64 54 Frequent (79-30%) HP:0002597
23 neoplasm54 Occasional (29-5%)
24 gastrointestinal carcinoma64 54 Occasional (29-5%) HP:0002672
25 colon cancer64 54 Occasional (29-5%) HP:0003003
26 cachexia64 54 Frequent (79-30%) HP:0004326
27 hamartomatous polyposis64 54 Very frequent (99-80%) HP:0004390
28 generalized hyperpigmentation64 54 Very frequent (99-80%) HP:0007440
29 dystrophic fingernails64 54 Very frequent (99-80%) HP:0008391
30 stomach cancer64 54 Occasional (29-5%) HP:0012126
31 fatigue64 54 Frequent (79-30%) HP:0012378
32 aplasia/hypoplasia of the eyebrow64 54 Frequent (79-30%) HP:0100840
33 intestinal polyposis64 54 Very frequent (99-80%) HP:0200008
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 nail dysplasia64 HP:0002164
42 protein-losing enteropathy64 HP:0002243
43 hematochezia64 HP:0002573
44 hypokalemia64 HP:0002900
45 hypocalcemia64 HP:0002901
46 hypomagnesemia64 HP:0002917
47 paresthesia64 HP:0003401
48 nail dystrophy64 HP:0008404
49 clubbing of fingers64 HP:0100759

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


abdominal pain, cachexia, diarrhea, vomiting, 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

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

idNameGO IDScoreTop Affiliating Genes
1establishment or maintenance of transmembrane electrochemical gradientGO:00102489.9ATP12A, ATP4A
2O-glycan processingGO:00162669.3MUC2, MUC5AC

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