eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| haim-munk syndrome | ||||
| Disease ID | 1567 |
|---|---|
| Disease | haim-munk syndrome |
| Definition | A rare syndrome with characteristics of palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. The syndrome presents with severe and extensive skin manifestations. Severe, early-onset progressive periodontitis that affects both the deciduous and permanent dentitions and presents with gingival inflammation and alveolar bone destruction is a hallmark of the disease. Onychogryposis, arachnodactyly, acroosteolysis and pes planus are additional features that help to distinguish from other forms of palmoplantar hyperkeratosis. The syndrome is caused by germline mutations in the lysosomal protease cathepsin C (CTSC) gene mapped to chromosome 11q14.1-q14.3. It is transmitted as an autosomal recessive trait. |
| Synonym | cochin jewish disorder haim munk syndrome haim munk syndrome (disorder) keratosis palmoplantaris with periodontopathia and onychogryposis keratosis palmoplantaris with periodontopathia and onychogryposis syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1855627 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) CTSC | 11q14.2 |
| Disease ID | 1567 |
|---|---|
| Disease | haim-munk syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0007545 | Congenital palmoplantar keratosis HP:0000166 | Severe periodontal disease HP:0001805 | Thick nail HP:0009771 | Acro-osteolysis HP:0001166 | Long, slender fingers HP:0005406 | Recurrent pyogenic skin infections HP:0001763 | Pes planus HP:0006224 | Tapering pointed ends of distal finger phalanges |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1567 |
|---|---|
| Disease | haim-munk syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C2348101 | destructive arthritis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894208 | NA | 1075 | CTSC | umls:C1855627 | CLINVAR | NA | 0.481357209 | NA | CTSC | 11 | 88296165 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005406 | Recurrent bacterial skin infections | MP:0002412 | increased susceptibility to bacterial infection | greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0001805 | Thick nail | MP:0000579 | abnormal nail morphology | any structural anomaly of any of the horny plates covering the dorsal surface of the distal end of each terminal phalanx of the digits |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007545 | Congenital palmoplantar keratosis | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0005406 | Recurrent bacterial skin infections | MP:0013799 | abnormal intestinal goblet cell physiology | any functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a |
| HP:0001805 | Thick nail | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0006224 | Tapering pointed ends of distal finger phalanges | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000166 | Severe periodontitis | MP:0009142 | decreased prepulse inhibition | decrease in the ability of a relatively mild stimulus to suppress the response to a strong, startle-eliciting stimulus |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| Disease ID | 1567 |
|---|---|
| Disease | haim-munk syndrome |
| Case | (Waiting for update.) |