Familial angiolipomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: ANGIOLIPOMA MICROTHROMBOTICUM
Number of Symptoms 5
OrphanetNr: 199279
OMIM Id: 206550
ICD-10: D17.9
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic subcutaneous tissue disease
 -Rare genetic disease
Subcutaneous tissue disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0006773) Cutaneous angiolipomas 2 / 7739
2
(OMIM) Bone deformity near affected joints 1 / 7739
3
(OMIM) Subcutaneous tumors at wrists, knees and ankles 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0011462) Young adult onset 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: