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Familial isolated hypoparathyroidism due to impaired PTH secretion
1 OMIM reference -
2 associated genes
28 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant hypocalcemia
Bartter syndrome with hypocalcemia
Familial hypocalciuric hypercalcemia type 1
Neonatal severe primary hyperparathyroidism
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
Chondrodysplasia, Blomstrand type
Dental ankylosis
Eiken syndrome
Enchondromatosis
Metaphyseal chondrodysplasia, Jansen type
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):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CASR P41180601199
PTH P01270168450
No signs/symptoms info available.