HYPOHIDROSIS WITH ABNORMAL PALMAR DERMAL RIDGES
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SWEAT GLAND HYPOPLASIA |
| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
241120
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0007608) | Abnormal palmar dermal ridges | 3 / 7739 | ||||
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(HPO:0007500) | Decreased number of sweat glands | 6 / 7739 | ||||
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(HPO:0000966) | Hypohidrosis | 41 / 7739 | ||||
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(HPO:0001945) | Fever | 218 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Frydman et al. (1988) found 'simple hypohidrosis' in a brother and sister born to nonconsanguineous Iranian Jewish parents. Pilocarpine produced little sweating, and external heat and physical effort were associated with elevation of body temperature. Abnormal palmar dermal ... |