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Neonatal severe primary hyperparathyroidism
1 OMIM reference -
1 associated gene
23 connected diseases
12 signs/symptoms
Disease Type of connection
Autosomal dominant hypocalcemia
Bartter syndrome with hypocalcemia
Familial hypocalciuric hypercalcemia type 1
Familial isolated hypoparathyroidism due to impaired PTH secretion
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Microcephaly-capillary malformation syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 14
Synonym(s):
- NSHPT
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
CASR P41180601199
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