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1 OMIM reference -
1 associated gene
11 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Hypoplasminogenemia
Hereditary sensory and autonomic neuropathy type 5

PLG NGF
NTRK1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLG
(0.55)
NGF



Citations in the biomedical literature:


Hypoplasminogenemia
PLG
Hereditary sensory and autonomic neuropathy type 5
NGF NTRK1



Hypoplasminogenemia
Hereditary sensory and autonomic neuropathy type 5

Synonym(s):
- Plasminogen deficiency type 1

Synonym(s):
- Congenital insensitivity to pain and thermal analgesia
- HSAN5
- NHSA5

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

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

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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D000699

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


Hereditary sensory and autonomic neuropathy type 5

(no data available)