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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/245010
http://purl.bioontology.org/ontology/OMIM/245010
|
|---|---|
| Preferred Name | HAIM-MUNK SYNDROME |
| Synonyms |
COCHIN JEWISH DISORDER
KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS
HMS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
COCHIN JEWISH DISORDER
KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS
HMS
|
|---|---|
| prefLabel | HAIM-MUNK SYNDROME
|
| Gene Symbol |
CPPI
CTSC
PLS
HMS
PDON1
PALS
JPD
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| Scope Statement | Allelic to Papillon-Lefevre syndrome (245000) and juvenile periodontitis (170650) [MISCELLANEOUS]
All cases occur in a Jewish religious isolate originally from Cochin, India [MISCELLANEOUS]
Skin manifestations are more severe and of later onset than Papillon-Lefevre syndrome [MISCELLANEOUS]
Caused by mutation in the cathepsin C gene (CTSC, 602365.0006) [MOLECULAR BASIS]
Periodontium is less severely affected than in Papillon-Lefevre syndrome [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 11q14.1-q14.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 245010
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1855627
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |