MASP2 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613791
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:0100279) Ulcerative colitis 1/1 [HPO:probinson] 5 / 7739
2
 (HPO:0006532) Recurrent pneumonia 1/1 [HPO:probinson] 48 / 7739
3
 (HPO:0002725) Systemic lupus erythematosus 1/1 [HPO:probinson] 14 / 7739
4
 (HPO:0004431) Complement deficiency 1/1 [HPO:probinson] 10 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: