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Immunodeficiency due to a late component of complements deficiency
6 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypoplasminogenemia
1 OMIM reference -
1 associated gene
11 signs/symptoms
Immunodeficiency due to a late component of complements deficiency
Hypoplasminogenemia

C5
(UniProt - OMIM)
 PLG
(UniProt - OMIM)
C6
(UniProt - OMIM)
C7
(UniProt - OMIM)
C8A
(UniProt - OMIM)
C8B
(UniProt - OMIM)
C8G
(UniProt - OMIM)
C9
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
C7
(0.75)
PLG


Citations in the biomedical literature:


Immunodeficiency due to a late component of complements deficiency
C5 C6 C7 C8A C8B C8G
C9
Hypoplasminogenemia
PLG



Immunodeficiency due to a late component of complements deficiency
Hypoplasminogenemia

Synonym(s):
- Deficiency of complement of terminal pathway
- Immunodeficiency due to a C5 to C9 component complement deficiency
Synonym(s):
- Plasminogen deficiency type 1
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hypoplasminogenemia

Very frequent
- Anomalies of eyes and vision

Frequent
- Anomalies of tongue, gingiva and oral mucosa

Occasional
- Abnormal / polycystic ovaries
- Anomalies of skin, subcutaneous tissue and mucosae
- Dandy-Walker anomaly
- Hydrocephaly
- Intestinal / colonic anomaly
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Structural anomalies of the respiratory system and diaphragm
- Urinary / renal lithiasis / kidney stones / nephritic colic
- Uterine / uterus / Fallopian tubes anomalies


Immunodeficiency due to a late component of complements deficiency

(no data available)