Hereditary sclerosing poikiloderma, Weary type

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 221039
OMIM Id: 173700
ICD-10: Q82.8
UMLs: C1275083
MeSH:
MedDRA:
Snomed: 403774004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Hereditary poikiloderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0100759) Clubbing of fingers 40 / 7739
2
(HPO:0007618) Subcutaneous calcification 2 / 7739
3
(HPO:0001217) Clubbing 39 / 7739
4
(HPO:0001029) Poikiloderma 23 / 7739
5
(OMIM) Palmar and solar sclerosis 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Generalized poikiloderma esp. flexural and extensor areas 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Weary et al. (1969) reported an apparently 'new' disorder characterized by generalized poikiloderma accentuated in flexural areas and on extensor surfaces, sclerosis of the palms and soles, and, in 1 patient, late development of subcutaneous calcification. Clubbing of ...