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2 OMIM references -
2 associated genes
26 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Autosomal dominant hypocalcemia
Amyotrophic lateral sclerosis

CASR ANG
GNA11 ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
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
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Autosomal dominant hypocalcemia
Amyotrophic lateral sclerosis

Synonym(s):
- AD hypocalcemia

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
16 OMIM references -
1 MeSH reference: D000690

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


Amyotrophic lateral sclerosis

(no data available)