Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 90301 |
| OMIM Id: |
200170
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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: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Omim] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Insulin-resistance syndrome
-Rare endocrine disease -Rare genetic disease Other epidermis disorder -Rare skin disease Other genetic epidermal disease -Rare genetic disease |
Symptom Information:
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(HPO:0000956) | Acanthosis nigricans | 54 / 7739 | ||||
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(HPO:0000855) | Insulin resistance | 32 / 7739 | ||||
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(HPO:0003394) | Muscle cramps | 106 / 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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