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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Hyperostosis, Cortical, Congenital (D006958)
Parent Node: Hyperphosphatemia (D054559)
..Starting node ..Tumoral Calcinosis, Hyperphosphatemic, Familial (C566870)
Child Nodes:
Sister Nodes:
..Hyperostosis-hyperphosphatemia syndrome (C538381)
..Hyperphosphatemia, Polyuria, and Seizures (C565494)
..Tumoral Calcinosis, Hyperphosphatemic, Familial (C566870)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11338

Name:

Tumoral Calcinosis, Hyperphosphatemic, Familial

Definition:

Alternative IDs:

OMIM:211900

ParentIDs:

MESH:D002114|MESH:D006958|MESH:D054559

TreeNumbers:

C05.116.099.708.479/C566870 |C05.116.540.400/C566870 |C16.614.465/C566870 |C18.452.174.130/C566870 |C18.452.750.199/C566870

Synonyms:

Slim Mappings:

Infant-newborn disease|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: C566870
MeSH: C566870
OMIM: 211900;

Genes: FGF23; GALNT3; KL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0000951	Abnormality of the skin
4	HP:0001102	Angioid streaks of the fundus
5	HP:0003761	Calcinosis
6	HP:0007799	Conjunctival whitish salt-like deposits
7	HP:0005572	Decreased renal tubular phosphate excretion
8	HP:0006297	Enamel hypoplasia
9	HP:0002905	Hyperphosphatemia
10	HP:0005571	Increased renal tubular phosphate reabsorption
11	HP:0000121	Nephrocalcinosis
12	HP:0003771	Pulp calcification
13	HP:0000679	Taurodontia
14	HP:0004934	Vascular calcification

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_020638.2(FGF23):c.386C>T (p.Ser129Phe)	8074	FGF23	Pathogenic	104894344	RCV000005332;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	12	4479879	4479879	NM_020638.2:c.386C>T	NP_065689.1:p.Ser129Phe	NC_000012.11:g.4479879G>A	OMIM Allelic Variant:605380.0005	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_020638.2(FGF23):c.287T>C (p.Met96Thr)	8074	FGF23	Pathogenic	104894343	RCV000005331;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	12	4481788	4481788	NM_020638.2:c.287T>C	NP_065689.1:p.Met96Thr	NC_000012.11:g.4481788A>G	OMIM Allelic Variant:605380.0004	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_020638.2(FGF23):c.260G>A (p.Gly87Asp)	8074	FGF23	Likely pathogenic	863224872	RCV000197637;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	12	4481815	4481815	NM_020638.2:c.260G>A	NP_065689.1:p.Gly87Asp	NC_000012.11:g.4481815C>T	-	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_020638.2(FGF23):c.211A>G (p.Ser71Gly)	8074	FGF23	Pathogenic;Uncertain significance	104894342	RCV000005330;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	12	4488538	4488538	NM_020638.2:c.211A>G	NP_065689.1:p.Ser71Gly	NC_000012.11:g.4488538T>C	OMIM Allelic Variant:605380.0003	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1774C>T (p.Gln592Ter)	2591	GALNT3	Pathogenic	137853087	RCV000008238;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166606257	166606257	NM_004482.3:c.1774C>T	NP_004473.2:p.Gln592Ter	NC_000002.11:g.166606257G>A	OMIM Allelic Variant:601756.0005	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1720T>G (p.Cys574Gly)	2591	GALNT3	Pathogenic	267606841	RCV000008246;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166606311	166606311	NM_004482.3:c.1720T>G	NP_004473.2:p.Cys574Gly	NC_000002.11:g.166606311A>C	OMIM Allelic Variant:601756.0013	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1525_1626del	2591	GALNT3	Pathogenic	760830864	RCV000008244;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166611136	166611136	NM_004482.3:c.1525_1626del		NC_000002.11:g.166611136C>T	OMIM Allelic Variant:601756.0011	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1524+5G>A	2591	GALNT3	Pathogenic	375879489	RCV000008236;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166611437	166611437	NM_004482.3:c.1524+5G>A		NC_000002.11:g.166611437C>T	OMIM Allelic Variant:601756.0003	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1524+1G>A	2591	GALNT3	Pathogenic	745655924	RCV000008234;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166611441	166611441	NM_004482.3:c.1524+1G>A		NC_000002.11:g.166611441C>T	OMIM Allelic Variant:601756.0001	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1441C>T (p.Gln481Ter)	2591	GALNT3	Pathogenic	137853089	RCV000008241;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166611525	166611525	NM_004482.3:c.1441C>T	NP_004473.2:p.Gln481Ter	NC_000002.11:g.166611525G>A	OMIM Allelic Variant:601756.0007	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.1076C>A (p.Thr359Lys)	2591	GALNT3	Pathogenic	137853091	RCV000008239;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166615372	166615372	NM_004482.3:c.1076C>A	NP_004473.2:p.Thr359Lys	NC_000002.11:g.166615372G>T	OMIM Allelic Variant:601756.0009	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.966T>G (p.Tyr322Ter)	2591	GALNT3	Pathogenic	137853088	RCV000008240;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166615953	166615953	NM_004482.3:c.966T>G	NP_004473.2:p.Tyr322Ter	NC_000002.11:g.166615953A>C	OMIM Allelic Variant:601756.0006	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.815C>A (p.Thr272Lys)	2591	GALNT3	Pathogenic	137853090	RCV000008242;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166618438	166618438	NM_004482.3:c.815C>A	NP_004473.2:p.Thr272Lys	NC_000002.11:g.166618438G>T	OMIM Allelic Variant:601756.0008	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.803dupC (p.Thr269Asnfs)	2591	GALNT3	Pathogenic	766750282	RCV000008243;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166618450	166618450	NM_004482.3:c.803dupC	NP_004473.2:p.Thr269Asnfs	NC_000002.11:g.166618450dupG	OMIM Allelic Variant:601756.0010	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.677delC (p.Ala226Valfs)	2591	GALNT3	Pathogenic	786205250	RCV000008245;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166621405	166621405	NM_004482.3:c.677delC	NP_004473.2:p.Ala226Valfs	NC_000002.11:g.166621405delG	OMIM Allelic Variant:601756.0012	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.516_688del	2591	GALNT3	Pathogenic	761396172	RCV000008237;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166621568	166621568	NM_004482.3:c.516_688del		NC_000002.11:g.166621568T>A	OMIM Allelic Variant:601756.0004	C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic
NM_004482.3(GALNT3):c.484C>T (p.Arg162Ter)	2591	GALNT3	Pathogenic	137853086	RCV000008235;	N	MedGen:C1876187,OMIM:211900,OMIM:610233,ORPHA:306661	2	166626727	166626727	NM_004482.3:c.484C>T	NP_004473.2:p.Arg162Ter	NC_000002.11:g.166626727G>A	OMIM Allelic Variant:601756.0002	C1876187 211900 Tumoral calcinosis, familial, hyperphosphatemic; C1876187 610233 Tumoral calcinosis, familial, hyperphosphatemic