Cytoscape Web
Click node...

Hypoplasminogenemia
1 OMIM reference -
1 associated gene
11 signs/symptoms
PROTEIN INTERACTIONS: 1
Aceruloplasminemia
1 OMIM reference -
1 associated gene
20 signs/symptoms
Hypoplasminogenemia
Aceruloplasminemia

PLG
(UniProt - OMIM)
 CP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PLG
(0.65)
CP


Citations in the biomedical literature:


Hypoplasminogenemia
PLG
Aceruloplasminemia
CP



Hypoplasminogenemia
Aceruloplasminemia

Synonym(s):
- Plasminogen deficiency type 1
Synonym(s):
- Hereditary ceruloplasmin deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic 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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Hypoplasminogenemia
Aceruloplasminemia

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


Very frequent
- Anaemia
- Autosomal recessive inheritance
- Chorea / athetosis / choreoathetosis / choreic syndrome
- Diabetes mellitus
- Hyperferritinemia / iron overload
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Retinopathy
- Tremor

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Dystonia / torticollis / writer's cramp / blepharospasms
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Elocution disorders / dysarthria / dysphonia
- Heart / cardiac failure
- Hypothyroidy
- Troubles of memory / amnesia / hypermnesia