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Familial isolated hypoparathyroidism
Familial isolated hypoparathyroidism
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Subtype of:
Hypoparathyroidism
Include the contents of this disease's 2 subtypes
in the table below
Show the subtypes
Hypoparathyroidism, familial isolated, 1
Hypoparathyroidism, familial isolated, 2
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
familial isolated hypoparathyroidism
MONDO_0007796
PTH
Unknown
10523031
1302009
2212001
3005800
Open Targets
Neuroactive ligand-receptor interaction
Hormone signaling
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Rheumatoid arthritis
Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
+5 more
Hypoparathyroidism, familial isolated
MONDO_0007796
GCM2
Unknown
29199197
27745835
14715834
29264504
31671402
22066718
20190276
18712808
20463099
Open Targets
Parathyroid hormone synthesis, secretion and action
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Familial isolated hypoparathyroidism.
5
View disease cluster →
Hypoparathyroidism
2 shared genes
PTH, GCM2
Related via 2 shared genes including PTH, GCM2.
Hypoparathyroidism, familial isolated, 1
1 shared gene
PTH
Related via 1 shared gene including PTH.
Hypoparathyroidism, familial isolated, 2
1 shared gene
GCM2
Related via 1 shared gene including GCM2.
Basal cell nevus syndrome
1 shared gene
PTH
Related via 1 shared gene including PTH.
Hypocalcemia
1 shared gene
PTH
Related via 1 shared gene including PTH.
1
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