ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Familial hypocalciuric hypercalcemia type 1

Neonatal severe primary hyperparathyroidism

CASR

Citations in the biomedical literature:

Familial hypocalciuric hypercalcemia type 1		Neonatal severe primary hyperparathyroidism
	Synonym(s): - FHH type 1		Synonym(s): - NSHPT

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare respiratory 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: - Average age onset: - Average age of death: - 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: 1 OMIM reference - 1 MeSH reference: C537145		External references: 1 OMIM reference - No MeSH references

Neonatal severe primary hyperparathyroidism
	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
Familial hypocalciuric hypercalcemia type 1
(no data available)