POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615704
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
2
 (HPO:0000823) Delayed puberty rare [HPO:skoehler] 65 / 7739
3
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
4
 (HPO:0001596) Alopecia 162 / 7739
5
 (HPO:0001055) Erysipelas rare [HPO:skoehler] 6 / 7739
6
 (HPO:0001029) Poikiloderma 23 / 7739
7
 (HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
8
 (HPO:0000966) Hypohidrosis 41 / 7739
9
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: