Mutation submission to C3base
for C3 deficiency
Please, note that it is the responsibility of the submitters to ascertain that they have
the right to submit the data and they have the necessary permissions, including the
consent from the patient or family.
The submitted data will be made publicly available on the database website.
If you want to submit confidential cases, please, contact the database curator.

Submitter

Name: (Obligatory)
Address:
Telephone: Fax:
E-mail: (Obligatory)
References
PubMed ID



Mutation (Numbering by reference sequence entry

Mutation
description
Heterozygous Homozygous
Allele 1   Allele 2
Type    Type 
Start number  Required   Start number  Required
Reference seq    Reference seq 
Variant seq    Variant seq 

Patient

Background Patient's name (initials)
(confidential)
Date of birth
 

(confidential)
Original code (in publication) Sex (XY=male, XX=female)
Ethnic group Country of origin
Genetics
Are parents consanguineous? No Yes
Other affected family members? No Yes
If yes, phenotype (as compared to index case):
Northern-blot (mRNA expression)
Clinical phenotype GENERAL SYMPTOMS  
Headache Tiredness
Increased susceptibility to infectious diseases Asthenia
Swollen lymph nodes Sensitivity to sunlight
Fever Angioedema
BACTERIAL INFECTIONS  
Meningitis Bacteremia
Sinusitis Pneumonia
Otitis  
RHEUMATIC DISEASES  
Symptoms of systemic lupus erythematosis (SLE) Dermatomyositis
Discoid lupus Scleroderma
Purpura Vasculitis
HEMATOLOGICAL ABNORMALITIES KIDNEY ABNORMALITIES
Neutropenia: chronic cyclic Proteinuria
Anemia Hematuria
Thrombocytopenia Severe renal malfunction
AUTOIMMUNE MANIFESTATIONS  
Autoimmune hemolytic anemia ITP (idiopathic thrombocytopenic purpura)
Anti-nuclear antibodies:

Other autoantibodies (specify if present):

OTHER CLINICAL FEATURES (specify):
Comments

Action


Submission instructions
C3base
Latest version: Wednesday, 19 February, 2014 10:31:7 by Gerard Schaafsma