Alopecia antibody deficiency
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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11
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OrphanetNr:
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1006
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OMIM Id:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Alopecia
-Rare genetic disease
-Rare skin disease
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1
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(HPO:0200102)
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Sparse or absent eyelashes |
Very frequent [Orphanet]
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64 / 7739
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2
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(HPO:0100840)
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Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
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117 / 7739
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3
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(HPO:0011073)
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Abnormality of dental color |
Occasional [Orphanet]
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24 / 7739
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4
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(HPO:0000405)
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Conductive hearing impairment |
Occasional [Orphanet]
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164 / 7739
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5
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(HPO:0002167)
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Neurological speech impairment |
Occasional [Orphanet]
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308 / 7739
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6
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(HPO:0004322)
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Short stature |
Occasional [Orphanet]
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1232 / 7739
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7
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(HPO:0002225)
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Sparse pubic hair |
Very frequent [Orphanet]
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76 / 7739
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8
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(HPO:0001006)
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Hypotrichosis |
Very frequent [Orphanet]
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219 / 7739
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9
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(HPO:0010701)
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Abnormal immunoglobulin level |
Very frequent [Orphanet]
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49 / 7739
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10
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(HPO:0002205)
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Recurrent respiratory infections |
Very frequent [Orphanet]
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254 / 7739
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11
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(HPO:0010978)
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Abnormality of immune system physiology |
Very frequent [Orphanet]
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148 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |