HISTIOCYTOSIS, FAMILIAL LIPOCHROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 235900
ICD-10:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005764) Polyarticular arthritis 3 / 7739
2
(HPO:0100727) Histiocytosis 2 / 7739
3
(HPO:0005413) Increased alpha-globulin 1 / 7739
4
(HPO:0010702) Increased antibody level in blood 29 / 7739
5
(HPO:0002113) Pulmonary infiltrates 36 / 7739
6
(HPO:0002719) Recurrent infections 107 / 7739
7
(OMIM) Transient polyarthritis 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Lipochrome granulation of histiocytes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 3 sisters in a sibship of 9, Ford et al. (1962) observed lipochrome granulation of the histiocytes, pulmonary infiltration, hyperglobulinemia, transient polyarthritis, and susceptibility to infection. No abnormality was seen in plasma cells or lymphocytes. The hyperglobulinemia ...