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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: Cataract (D002386)
Parent Node: Hemorrhagic Disorders (D006474)
..Starting node ..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
Child Nodes:
Sister Nodes:
..Afibrinogenemia (D000347) 3
..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
..Anti-plasmin deficiency, congenital (C537777)
..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
..Bernard-Soulier Syndrome (D001606) 5
..Disseminated Intravascular Coagulation (D004211)
..Factor V Deficiency (D005166) 4
..Factor VII Deficiency (D005168)
..Factor X Deficiency (D005171)
..Factor XI Deficiency (D005173)
..Factor XII Deficiency (D005175)
..Factor XIII Deficiency (D005177) 2
..Hemophilia A (D006467) 5
..Hemophilia B (D002836)
..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
..Hemostatic Disorders (D020141) 48
..Hypoprothrombinemias (D007020) 2
..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
..Platelet Storage Pool Deficiency (D010981) 5
..Purpura, Thrombocytopenic, Idiopathic (D016553)
..Thrombasthenia (D013915) 3
..Thrombocythemia, Essential (D013920)
..Vitamin K Deficiency (D014813) 1
..von Willebrand Diseases (D014842) 6
..Waterhouse-Friderichsen Syndrome (D014884) 1
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5050

Name:

HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS

Definition:

Alternative IDs:

ParentIDs:

MESH:D002114|MESH:D002386|MESH:D006474

TreeNumbers:

C11.510.245/613730 |C15.378.463/613730 |C18.452.174.130/613730

Synonyms:

HDBSCC

Slim Mappings:

Blood disease|Eye disease|Metabolic disease

Reference:

MedGen: 613730
MeSH: 613730
OMIM: 613730;

Genes: JAM3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0000518	Cataract
4	HP:0001321	Cerebellar hypoplasia	HP:0040283
5	HP:0000028	Cryptorchidism	HP:0040283
6	HP:0000800	Cystic renal dysplasia	HP:0040283
7	HP:0000086	Ectopic kidney	HP:0040283
8	HP:0001263	Global developmental delay
9	HP:0002240	Hepatomegaly
10	HP:0001347	Hyperreflexia
11	HP:0005484	Secondary microcephaly
12	HP:0001250	Seizure
13	HP:0001257	Spasticity
14	HP:0002119	Ventriculomegaly

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_032801.4(JAM3):c.2T>G (p.Met1Arg)	83700	JAM3	Pathogenic	397514678	RCV000034814;	N	MedGen:C3151000,OMIM:613730,ORPHA:306547	11	133938980	133938980	NM_032801.4:c.2T>G	NP_116190.3:p.Met1Arg	NC_000011.9:g.133938980T>G	OMIM Allelic Variant:606871.0004	C3151000 613730 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
NM_032801.4(JAM3):c.346G>A (p.Glu116Lys)	83700	JAM3	Pathogenic	397515439	RCV000034813;	N	MedGen:C3151000,OMIM:613730,ORPHA:306547	11	134014225	134014225	NM_032801.4:c.346G>A	NP_116190.3:p.Glu116Lys	NC_000011.9:g.134014225G>A	OMIM Allelic Variant:606871.0003	C3151000 613730 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
NM_032801.4(JAM3):c.656G>A (p.Cys219Tyr)	83700	JAM3	Pathogenic	397515438	RCV000034812;	N	MedGen:C3151000,OMIM:613730,ORPHA:306547	11	134015884	134015884	NM_032801.4:c.656G>A	NP_116190.3:p.Cys219Tyr	NC_000011.9:g.134015884G>A	OMIM Allelic Variant:606871.0002	C3151000 613730 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts