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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Hypoparathyroidism (D007011)
..Starting node ..Hypoparathyroidism familial isolated (C537156)
Child Nodes:
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Barakat syndrome (C537907)
..Dahlberg Borer Newcomer syndrome (C535769)
..Hypercalciuric Hypocalcemia, Familial (C562783)
..Hypoparathyroidism familial isolated (C537156)
..Hypoparathyroidism, Autosomal Recessive (C564148)
..Hypoparathyroidism, X-Linked (C562782)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Parathyroid Glands, Agenesis Of (C563238)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5594

Name:

Hypoparathyroidism familial isolated

Definition:

Alternative IDs:

OMIM:146200

ParentIDs:

MESH:D007011

TreeNumbers:

C19.642.482/C537156

Synonyms:

FIH |HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT HYPOPARATHYROIDISM, AUTOSOMAL RECESSIVE, INCLUDED |Hypoparathyroidism, Familial Isolated

Slim Mappings:

Endocrine system disease

Reference:

MedGen: C537156
MeSH: C537156
OMIM: 146200;

Genes: GCM2; PTH;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000518	Cataract
3	HP:0002514	Cerebral calcification
4	HP:0002905	Hyperphosphatemia
5	HP:0002901	Hypocalcemia
6	HP:0000829	Hypoparathyroidism
7	HP:0001250	Seizure
8	HP:0001281	Tetany

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000388.3(CASR):c.1934C>A (p.Ala645Asp)	846	CASR	Likely pathogenic	193922430	RCV000029437;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	3	122002735	122002735	NM_000388.3:c.1934C>A	NP_000379.2:p.Ala645Asp	NC_000003.11:g.122002735C>A	-	C1832648 146200 Hypoparathyroidism familial isolated
NM_000388.3(CASR):c.2686delC (p.Arg896Alafs)	846	CASR	Uncertain significance	193922438	RCV000029446;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	3	122003487	122003487	NM_000388.3:c.2686delC	NP_000379.2:p.Arg896Alafs	NC_000003.11:g.122003487delC	-	C1832648 146200 Hypoparathyroidism familial isolated
NM_004752.3(GCM2):c.187G>A (p.Gly63Ser)	9247	GCM2	Pathogenic	104893960	RCV000006465;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	6	10877529	10877529	NM_004752.3:c.187G>A	NP_004743.1:p.Gly63Ser	NC_000006.11:g.10877529C>T	OMIM Allelic Variant:603716.0003	C1832648 146200 Hypoparathyroidism familial isolated
NM_004752.3(GCM2):c.140G>T (p.Arg47Leu)	9247	GCM2	Pathogenic	104893959	RCV000006464;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	6	10877576	10877576	NM_004752.3:c.140G>T	NP_004743.1:p.Arg47Leu	NC_000006.11:g.10877576C>A	OMIM Allelic Variant:603716.0002	C1832648 146200 Hypoparathyroidism familial isolated
NM_000315.3(PTH):c.67T>C (p.Ser23Pro)	5741	PTH	Pathogenic	104894272	RCV000014766;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	11	13514336	13514336	NM_000315.3:c.67T>C	NP_000306.1:p.Ser23Pro	NC_000011.9:g.13514336A>G	OMIM Allelic Variant:168450.0003	C1832648 146200 Hypoparathyroidism familial isolated
NM_000315.3(PTH):c.52T>C (p.Cys18Arg)	5741	PTH	Pathogenic	104894271	RCV000014764;	N	MedGen:C1832648,OMIM:146200,ORPHA:2238	11	13514351	13514351	NM_000315.3:c.52T>C	NP_000306.1:p.Cys18Arg	NC_000011.9:g.13514351A>G	OMIM Allelic Variant:168450.0001	C1832648 146200 Hypoparathyroidism familial isolated