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1 OMIM reference -
1 associated gene
11 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
9 associated genes
No signs/symptoms info
Hypoplasminogenemia
Immunodeficiency due to an early component of complement deficiency

PLG C1QA
C1QB
C1QC
C1R
C1S
C2
C4A
C4B
SERPING1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLG
(0.52)
SERPING1



Citations in the biomedical literature:


Hypoplasminogenemia
PLG
Immunodeficiency due to an early component of complement deficiency
C1QA C1QB C1QC C1R C1S C2
C4A C4B SERPING1



Hypoplasminogenemia
Immunodeficiency due to an early component of complement deficiency

Synonym(s):
- Plasminogen deficiency type 1

Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
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 an early component of complement deficiency

(no data available)