Loose anagen syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Coloboma - hair abnormality |
| Number of Symptoms | 14 |
| OrphanetNr: | 168 |
| OMIM Id: |
600628
|
| ICD-10: |
L65.1 |
| UMLs: |
C0406468 |
| MeSH: |
D058247 |
| MedDRA: |
|
| Snomed: |
238735005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Alopecia
-Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0002286) | Fair hair | 20 / 7739 | ||||
|
|
(HPO:0001595) | Abnormality of the hair | Very frequent [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0010719) | Abnormality of hair texture | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
|
|
(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
|
|
(OMIM) | Hairs not fragile | 1 / 7739 | ||||
|
|
(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
|
|
(OMIM) | Fair colored hair | 1 / 7739 | ||||
|
|
(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
|
|
(OMIM) | Relatively sparse short hair | 1 / 7739 | ||||
|
|
(OMIM) | Hair shafts of reduced caliber | 1 / 7739 | ||||
|
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(OMIM) | Slight flattening and longitudinal grooving of hair on EM | 1 / 7739 | ||||
|
|
(OMIM) | Loose actively growing hair | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Anagen phase hair is actively growing hair. In the loose anagen hair syndrome, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color (Price and Gummer, ... |