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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
26 signs/symptoms
Semantic dementia
Autosomal dominant hypocalcemia

C9ORF72 CASR
CHMP2B GNA11
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
CASR



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Autosomal dominant hypocalcemia
CASR GNA11



Semantic dementia
Autosomal dominant hypocalcemia

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- AD hypocalcemia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

Autosomal dominant hypocalcemia

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Asthenia / fatigue / weakness
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypercalciuria
- Hypocalcemia
- Myoclonus / fasciculations
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / behavioural troubles

Frequent
- Abnormal fingernails
- Acute abdominal pain / colic
- Alopecia
- Cardiac rhythm disorder / arrhythmia
- Dry / squaly skin / exfoliation
- Hyperphosphtemia
- Hypotension
- Nails anomalies
- Respiratory rhythm disorder
- Urinary / renal lithiasis / kidney stones / nephritic colic

Occasional
- Cranial hypertension
- Eczema
- Heart / cardiac failure
- Irregular / in bands / reticular skin hyperpigmentation
- Obnubilation / coma / lethargia / desorientation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets


Semantic dementia

(no data available)