LIPODYSTROPHY, PARTIAL, ACQUIRED, WITH LOW COMPLEMENT COMPONENT C3,WITH OR WITHOUT GLOMERULONEPHRITIS

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, PARTIAL, ACQUIRED, ASSOCIATED WITH C3 NEPHRITIC FACTOR
APLDC3
Number of Symptoms 14
OrphanetNr:
OMIM Id: 613913
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:0000790) Hematuria 106 / 7739
2
(HPO:0000793) Membranoproliferative glomerulonephritis 26 % [HPO:skoehler] 8 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0000100) Nephrotic syndrome 83 / 7739
5
(HPO:0009019) Progressive loss of facial adipose tissue 2 / 7739
6
(HPO:0000292) Loss of facial adipose tissue 6 / 7739
7
(HPO:0002719) Recurrent infections 107 / 7739
8
(HPO:0005421) Decreased serum complement C3 9 / 7739
9
(HPO:0009125) Lipodystrophy 54 / 7739
10
(HPO:0003812) Phenotypic variability 129 / 7739
11
(OMIM) Presence of C3 nephritic factor autoantibody 1 / 7739
12
(OMIM) Sunken face 2 / 7739
13
(OMIM) 'Progeroid' expression 2 / 7739
14
(OMIM) Loss of subcutaneous adipose tissue from upper limbs and trunk 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group ...
Clinical Description OMIM Alper et al. (1973) reported a 30-year-old woman with a lifelong history of recurrent bacterial infections who was found to have low serum C3 due to presence in the serum of an activator of C3, which the authors ...