Hypertrichosis lanuginosa congenita
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hypertrichosis universalis |
| Number of Symptoms | 10 |
| OrphanetNr: | 2222 |
| OMIM Id: |
145700
145701 307150 |
| ICD-10: |
Q84.2 |
| UMLs: |
C0235864 |
| MeSH: |
C538389 |
| MedDRA: |
|
| Snomed: |
201163007 403799003 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 100 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Eyebrow/eyelashes hypertrichosis -Rare eye disease -Rare genetic disease Hypertrichosis -Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0000168) | Abnormality of the gingiva | Occasional [Orphanet] | 51 / 7739 | |||
|
|
(HPO:0010730) | Double eyebrow | 2 / 7739 | ||||
|
|
(HPO:0000684) | Delayed eruption of teeth | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000574) | Thick eyebrow | Very frequent [Orphanet] | 96 / 7739 | |||
|
|
(HPO:0000365) | Hearing impairment | Very frequent [Orphanet] | 539 / 7739 | |||
|
|
(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0004540) | Congenital, generalized hypertrichosis | Very frequent [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0001000) | Abnormality of skin pigmentation | Frequent [Orphanet] | 105 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|