Cytoscape Web
Click node...


3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
11 signs/symptoms
Distal hereditary motor neuropathy type 2
Hypoplasminogenemia

HSPB1 PLG
HSPB3
HSPB8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPB1
(0.68)
PLG



Citations in the biomedical literature:


Distal hereditary motor neuropathy type 2
HSPB1 HSPB3 HSPB8
Hypoplasminogenemia
PLG



Distal hereditary motor neuropathy type 2
Hypoplasminogenemia

Synonym(s):
- Distal spinal muscular atrophy type 2
- dHMN2
- dSMA2

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: -
Average age onset: adolescence / young
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:
3 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


Distal hereditary motor neuropathy type 2

(no data available)