Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Bone Diseases (D001847)
..Starting node ..Osteitis Deformans (D010001)
Child Nodes:
........Familial Paget's disease of bone (C538098)
........Hyperostosis corticalis deformans juvenilis (C537701)
........Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia (C563476)
........Paget Disease Of Bone 4 (C565240)
........PAGET DISEASE, JUVENILE (OMIM:239000)
Sister Nodes:
..Bone Cysts (D001845) 11
..Bone Diseases, Developmental (D001848) 832
..Bone Diseases, Endocrine (D001849) 40
..Bone Diseases, Infectious (D001850) 22
..Bone Diseases, Metabolic (D001851) 67
..Bone Malalignment (D017760) 7
..Bone Neoplasms (D001859) 29
..Bone Resorption (D001862) 24
..Borrone Di Rocco Crovato syndrome (C536577)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..Coxa Valga (D060906)
..Eosinophilic Granuloma (D004803)
..Epiphyses, Slipped (D004839) 1
..Expansile Bone Lesions (C566375)
..Genu Valgum (D056304) 3
..Genu Varum (D056305) 1
..Gerodermia osteodysplastica (C537799)
..Ho Kaufman Mcalister syndrome (C538325)
..Hyperostosis (D015576) 40
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Kennerknecht Vogel syndrome (C537019)
..Osteitis (D010000)
..Osteitis Deformans (D010001) 5
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteoarthropathy, Secondary Hypertrophic (D010005)
..Osteochondritis (D010007) 6
..Osteochondrosis (D055034) 4
..Osteonecrosis (D010020) 6
..Sclerosing bone dysplasia mental retardation (C537523)
..Spinal Diseases (D013122) 72
..Tricho-dento-osseous syndrome 1 (C536550)
..Trochlea of the Humerus, Aplasia of (C566022)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8368

Name:

Osteitis Deformans

Definition:

A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.

Alternative IDs:

OMIM:167250|OMIM:602080

ParentIDs:

MESH:D001847

TreeNumbers:

C05.116.692

Synonyms:

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: D010001
MeSH: D010001
OMIM: 167250;

Genes: PDB1; PDB4; SQSTM1; TNFRSF11A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002653	Bone pain
3	HP:0003155	Elevated circulating alkaline phosphatase concentration
4	HP:0003084	Fractures of the long bones
5	HP:0000365	Hearing impairment	HP:0040283
6	HP:0002669	Osteosarcoma
7	HP:0005686	Patchy osteosclerosis

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_003900.4(SQSTM1):c.1132A>T (p.Lys378Ter)	8878	SQSTM1	Pathogenic	796052213	RCV000184064;	N	Gene:5131,MedGen:CN032130,OMIM:167250	5	179260749	179260749	NM_003900.4:c.1132A>T	NP_003891.1:p.Lys378Ter	NC_000005.9:g.179260749A>T	OMIM Allelic Variant:601530.0004	CN032130 167250 Paget disease of bone, familial
NM_003900.4(SQSTM1):c.970_1165del	8878	SQSTM1	Pathogenic	796051870	RCV000008578;	N	Gene:5131,MedGen:CN032130,OMIM:167250	5	179260783	179260783	NM_003900.4:c.970_1165del		NC_000005.9:g.179260783G>A	OMIM Allelic Variant:601530.0003	CN032130 167250 Paget disease of bone, familial
NM_001142298.1(SQSTM1):c.923C>T (p.Pro308Leu)	8878	SQSTM1	Likely pathogenic;Pathogenic	104893941	RCV000008576; RCV000184063;	N	Gene:5131,MedGen:CN032130,OMIM:167250; MedGen:CN231386,OMIM:616437	5	179263445	179263445	NM_001142298.1:c.923C>T	NP_001135770.1:p.Pro308Leu	NC_000005.9:g.179263445C>T	OMIM Allelic Variant:601530.0001	CN231386 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; CN032130 167250 Paget disease of bone, familial
NM_003900.4(SQSTM1):c.1224dupT (p.Glu409Terfs)	8878	SQSTM1	Pathogenic	796051869	RCV000008577;	N	Gene:5131,MedGen:CN032130,OMIM:167250	5	179263494	179263494	NM_003900.4:c.1224dupT	NP_003891.1:p.Glu409Terfs	NC_000005.9:g.179263494dupT	OMIM Allelic Variant:601530.0002	CN032130 167250 Paget disease of bone, familial