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2 OMIM references -
2 associated genes
26 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
No signs/symptoms info
Autosomal dominant hypocalcemia
Behavioral variant of frontotemporal dementia

CASR C9ORF72
GNA11 CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant hypocalcemia
CASR GNA11
Behavioral variant of frontotemporal dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Autosomal dominant hypocalcemia
Behavioral variant of frontotemporal dementia

Synonym(s):
- AD hypocalcemia

Synonym(s):
- bv-FTD

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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


Behavioral variant of frontotemporal dementia

(no data available)