Hypotrichosis simplex
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hereditary hypotrichosis simplex |
| Number of Symptoms | 21 |
| OrphanetNr: | 55654 |
| OMIM Id: |
278150
604379 605389 607903 614237 614238 615059 |
| ICD-10: |
L65.8 |
| UMLs: |
C1854310 |
| MeSH: |
C537160 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 38 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alopecia
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0000653) | Sparse eyelashes | rare [HPO:skoehler] | 58 / 7739 | |||
|
|
(HPO:0002209) | Sparse scalp hair | rare [HPO:skoehler] | 59 / 7739 | |||
|
|
(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0000535) | Sparse and thin eyebrow | rare [HPO:skoehler] | 76 / 7739 | |||
|
|
(HPO:0002215) | Sparse axillary hair | rare [HPO:skoehler] | 21 / 7739 | |||
|
|
(HPO:0004540) | Congenital, generalized hypertrichosis | Frequent [Orphanet] | 11 / 7739 | |||
|
|
(HPO:0001807) | Ridged nail | rare [HPO:skoehler] | 20 / 7739 | |||
|
|
(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0011359) | Dry hair | rare [HPO:skoehler] | 16 / 7739 | |||
|
|
(HPO:0000989) | Pruritus | Occasional [Orphanet] | 111 / 7739 | |||
|
|
(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
|
(HPO:0002286) | Fair hair | 20 / 7739 | ||||
|
|
(HPO:0001803) | Nail pits | rare [HPO:skoehler] | 17 / 7739 | |||
|
|
(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0002224) | Woolly hair | Frequent [Orphanet] Occasional [HPO:skoehler] | 26 / 7739 | |||
|
|
(HPO:0002208) | Coarse hair | 58 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0030350) | Erythematous papule | Occasional [Orphanet] | 123 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|