ODCs

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Autosomal dominant hypocalcemia

2 OMIM references -
2 associated genes
26 signs/symptoms

COMMON GENES: 1

Neonatal severe primary hyperparathyroidism

1 OMIM reference -
1 associated gene
12 signs/symptoms

Autosomal dominant hypocalcemia

Neonatal severe primary hyperparathyroidism

CASR	(UniProt - OMIM)		CASR	(UniProt - OMIM)
GNA11	(UniProt - OMIM)


COMMON GENES	CASR

Citations in the biomedical literature:

Autosomal dominant hypocalcemia		Neonatal severe primary hyperparathyroidism
	Synonym(s): - AD hypocalcemia		Synonym(s): - NSHPT

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Autosomal dominant hypocalcemia		Neonatal severe primary hyperparathyroidism
	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		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperparathyroidy - Hypotonia - Metaphyseal anomaly - Mutiple fractures / bone fragility - Narrow rib cage / thorax - Phosphocalcic metabolism anomalies - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Short stature / dwarfism / nanism - Splenomegaly