Haim-Munk syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KERATOSIS PALMOPLANTARIS WITH PERIODONTOPATHIA AND ONYCHOGRYPOSIS COCHIN JEWISH DISORDER HMS Palmoplantar keratoderma - periodontopathia - onychogryposis Palmoplantar hyperkeratosis - periodontopathia - onychogryposis Keratosis palmoplantaris - periodontopathia - onychogryposis |
| Number of Symptoms | 26 |
| OrphanetNr: | 2342 |
| OMIM Id: |
245010
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| ICD-10: |
Q82.8 |
| UMLs: |
C1855627 |
| MeSH: |
C537627 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 100 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
-Rare genetic disease -Rare skin disease Disorder of lysosomal-related organelles -Rare genetic disease Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease |
Symptom Information:
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(HPO:0000704) | Periodontitis | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0000166) | Severe periodontitis | 3 / 7739 | ||||
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(HPO:0000168) | Abnormality of the gingiva | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000763) | Sensory neuropathy | Occasional [Orphanet] | 78 / 7739 | |||
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(HPO:0100759) | Clubbing of fingers | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0001763) | Pes planus | Very frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0009771) | Osteolytic defects of the phalanges of the hand | 17 / 7739 | ||||
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(HPO:0002797) | Osteolysis | Very frequent [Orphanet] | 68 / 7739 | |||
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(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0006224) | Tapering pointed ends of distal finger phalanges | 1 / 7739 | ||||
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(HPO:0100769) | Synovitis | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0001166) | Arachnodactyly | 62 / 7739 | ||||
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(HPO:0003468) | Abnormality of the vertebrae | Occasional [Orphanet] | 77 / 7739 | |||
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(HPO:0007545) | Congenital palmoplantar keratosis | 1 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0010783) | Erythema | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0005406) | Recurrent bacterial skin infections | 7 / 7739 | ||||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
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(OMIM) | Severe, early-onset periodontitis | 3 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Alveolar bone destruction | 3 / 7739 | ||||
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(OMIM) | Premature tooth | 1 / 7739 | ||||
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(OMIM) | Tapered, pointed distal phalanges | 1 / 7739 | ||||
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(OMIM) | Claw-like volar curve | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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