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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
11 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Hypoplasminogenemia

HSPD1 PLG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.68)
PLG



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Hypoplasminogenemia
PLG



Autosomal dominant spastic paraplegia type 13
Hypoplasminogenemia

Synonym(s):
- SPG13

Synonym(s):
- Plasminogen deficiency type 1

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
1 MeSH reference: C537485
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


Autosomal dominant spastic paraplegia type 13

(no data available)