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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: Fibrous Dysplasia of Bone (D005357)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Jaw Diseases (D007571)
Parent Node: Maxillofacial Abnormalities (D019767)
..Starting node ..Cherubism (D002636)
Child Nodes:
........Al Gazali Khidr Prem Chandran syndrome (C535616)
........Ramon Syndrome (C535285)
Sister Nodes:
..Abruzzo Erickson syndrome (C535559)
..Ackerman syndrome (C538170)
..Bifid Nose, Autosomal Dominant (C567781)
..Cherubism (D002636) 2
..Dentofacial Deformities (D063169)
..Jaw Abnormalities (D007569) 158
..Maxillofacial Dysostosis (C563599)
..Maxillonasal dysplasia, Binder type (C536036)
..Oculomaxillofacial dysostosis (C537736)
..Robinow syndrome, autosomal recessive (C535863)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2064

Name:

Cherubism

Definition:

A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination.

Alternative IDs:

OMIM:118400

ParentIDs:

MESH:D005357|MESH:D007571|MESH:D019767|MESH:D030342

TreeNumbers:

C05.116.099.708.375.199 |C05.500.174 |C07.320.173 |C16.131.621.207.540.170 |C16.320.170

Synonyms:

CRBM |Familial Benign Giant-Cell Tumor of the Jaw |Familial Fibrous Dysplasia of Jaw |Familial Multilocular Cystic Disease of the Jaws

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease

Reference:

MedGen: D002636
MeSH: D002636
OMIM: 118400;

Genes: SH3BP2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011463	Childhood onset
3	HP:0001133	Constriction of peripheral visual field
4	HP:0030802	Lower eyelid retraction
5	HP:0200056	Macular scar
6	HP:0200057	Marcus Gunn pupil
7	HP:0000677	Oligodontia
8	HP:0001138	Optic neuropathy
9	HP:0000520	Proptosis
10	HP:0007663	Reduced visual acuity
11	HP:0000311	Round face
12	HP:0001065	Striae distensae
13	HP:0000505	Visual impairment

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_001122681.1(SH3BP2):c.1244G>C (p.Arg415Pro)	6452	SH3BP2	Pathogenic	121909149	RCV000007986;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833300	2833300	NM_001122681.1:c.1244G>C	NP_001116153.1:p.Arg415Pro	NC_000004.11:g.2833300G>A,NC_000004.11:g.2833300G>C	OMIM Allelic Variant:602104.0004	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1244G>A (p.Arg415Gln)	6452	SH3BP2	Pathogenic	121909149	RCV000007987;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833300	2833300	NM_001122681.1:c.1244G>A	NP_001116153.1:p.Arg415Gln	NC_000004.11:g.2833300G>A,NC_000004.11:g.2833300G>C	OMIM Allelic Variant:602104.0005	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1253C>T (p.Pro418Leu)	6452	SH3BP2	Pathogenic	121909146	RCV000007983;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833309	2833309	NM_001122681.1:c.1253C>T	NP_001116153.1:p.Pro418Leu	NC_000004.11:g.2833309C>A,NC_000004.11:g.2833309C>G,NC_000004.11:g.2833309C>T	OMIM Allelic Variant:602104.0001	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1253C>G (p.Pro418Arg)	6452	SH3BP2	Pathogenic	121909146	RCV000007984;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833309	2833309	NM_001122681.1:c.1253C>G	NP_001116153.1:p.Pro418Arg	NC_000004.11:g.2833309C>A,NC_000004.11:g.2833309C>G,NC_000004.11:g.2833309C>T	OMIM Allelic Variant:602104.0002	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1253C>A (p.Pro418His)	6452	SH3BP2	Pathogenic	121909146	RCV000007985;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833309	2833309	NM_001122681.1:c.1253C>A	NP_001116153.1:p.Pro418His	NC_000004.11:g.2833309C>A,NC_000004.11:g.2833309C>G,NC_000004.11:g.2833309C>T	OMIM Allelic Variant:602104.0003	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1258G>C (p.Gly420Arg)	6452	SH3BP2	Pathogenic	28938170	RCV000007988;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833314	2833314	NM_001122681.1:c.1258G>C	NP_001116153.1:p.Gly420Arg	NC_000004.11:g.2833314G>C	OMIM Allelic Variant:602104.0006	C0008029 118400 Fibrous dysplasia of jaw
NM_001122681.1(SH3BP2):c.1259G>A (p.Gly420Glu)	6452	SH3BP2	Pathogenic	28938171	RCV000007989;	N	MedGen:C0008029,OMIM:118400,ORPHA:184,SNOMED CT:76098004	4	2833315	2833315	NM_001122681.1:c.1259G>A	NP_001116153.1:p.Gly420Glu	NC_000004.11:g.2833315G>A	OMIM Allelic Variant:602104.0007	C0008029 118400 Fibrous dysplasia of jaw