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Immunodeficiency due to an early component of complement deficiency
7 OMIM references -
9 associated genes
60 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary angioedema type 1
Hereditary angioedema type 2
Behçet disease
Fibronectin glomerulopathy
Apolipoprotein A-I deficiency
Congenital analbuminemia
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Craniofacial-ulnar-renal syndrome
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Congenital stromal corneal dystrophy
Immunodeficiency due to MASP-2 deficiency
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
APC-related attenuated familial adenomatous polyposis
Amyotrophic lateral sclerosis
Anaplastic ependymoma
Burkitt lymphoma
Congenital glaucoma
Desmoid tumor
Distal myopathy with posterior leg and anterior hand involvement
Familial adenomatous polyposis due to 5q22.2 microdeletion
Gardner syndrome
Hereditary combined deficiency of vitamin K-dependent clotting factors
Isolated CoQ-cytochrome C reductase deficiency
Juvenile glaucoma
Muscle filaminopathy
Phosphoenolpyruvate carboxykinase 1 deficiency
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Turcot syndrome with polyposis
X-linked hypohidrotic ectodermal dysplasia
Immunodeficiency due to a late component of complements deficiency
Familial renal amyloidosis due to Apolipoprotein AII variant
Achondrogenesis type 2
Atypical hemolytic uremic syndrome with C3 anomaly
Autosomal dominant rhegmatogenous retinal detachment
Complement component 3 deficiency
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Hypoplasminogenemia
Idiopathic pulmonary fibrosis
Kniest dysplasia
Legg-Calvé-Perthes disease
Ligneous conjunctivitis
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.