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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

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Hyperostosis, Cortical, Congenital (D006958)
..Starting node ..Tumoral Calcinosis, Normophosphatemic, Familial (C566473)
Child Nodes:
Sister Nodes:
..Kenny Caffey syndrome (C537020)
..Kenny-Caffey syndrome, Type 1 (C537021)
..Prenatal Cortical Hyperostosis, Lethal (C566184)
..Tumoral Calcinosis, Hyperphosphatemic, Familial (C566870)
..Tumoral Calcinosis, Normophosphatemic, Familial (C566473)
..Worth syndrome (C536748)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11339

Name:

Tumoral Calcinosis, Normophosphatemic, Familial

Definition:

Alternative IDs:

OMIM:610455

ParentIDs:

MESH:D002114|MESH:D006958

TreeNumbers:

C05.116.099.708.479/C566473 |C05.116.540.400/C566473 |C16.614.465/C566473 |C18.452.174.130/C566473

Synonyms:

Calcinosis, Tumoral, With Normophosphatemia |NFTC

Slim Mappings:

Infant-newborn disease|Metabolic disease|Musculoskeletal disease

Reference:

MedGen: C566473
MeSH: C566473
OMIM: 610455;

Genes: SAMD9;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000951	Abnormality of the skin
3	HP:0003761	Calcinosis
4	HP:0000509	Conjunctivitis
5	HP:0000230	Gingivitis

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	Disease_hgmd
NM_017654.3(SAMD9):c.4483A>G (p.Lys1495Glu)	54809	SAMD9	Pathogenic	121918554	RCV000001288;	N	MedGen:C1864861,OMIM:610455,ORPHA:306658	7	92730928	92730928	NM_017654.3:c.4483A>G	NP_060124.2:p.Lys1495Glu	NC_000007.13:g.92730928T>C	OMIM Allelic Variant:610456.0001	C1864861 610455 Tumoral calcinosis, familial, normophosphatemic