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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: Cataract (D002386)
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Deafness (D003638)
Parent Node: Dementia (D003704)
..Starting node ..Dementia, familial Danish (C538209)
Child Nodes:
Sister Nodes:
..AIDS Dementia Complex (D015526)
..Alzheimer Disease (D000544) 24
..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
..Amyotrophic Lateral Sclerosis, Juvenile, with Dementia (C565956)
..AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..Aphasia, Primary Progressive (D018888) 1
..Ataxia with Myoclonic Epilepsy and Presenile Dementia (C565933)
..Creutzfeldt-Jakob Syndrome (D007562) 3
..Dementia, familial Danish (C538209)
..Dementia, Vascular (D015140) 3
..Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques (C565115)
..Diffuse Neurofibrillary Tangles with Calcification (D055956)
..Frontotemporal Lobar Degeneration (D057174) 12
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Jensen syndrome (C537568)
..Kluver-Bucy Syndrome (D020232) 1
..Kohlschutter Tonz syndrome (C537213)
..Lewy Body Disease (D020961) 3
..MAST Syndrome (C565409)
..Motor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..Presenile dementia, Kraepelin type (C535273)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Wright Dyck syndrome (C536749)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3165

Name:

Dementia, familial Danish

Definition:

Alternative IDs:

OMIM:117300

ParentIDs:

MESH:D002386|MESH:D002524|MESH:D003638|MESH:D003704

TreeNumbers:

C09.218.458.341.186/C538209 |C10.228.140.252.190/C538209 |C10.228.140.380/C538209 |C10.597.350.090.500/C538209 |C10.597.751.418.341.186/C538209 |C11.510.245/C538209 |C23.888.592.350.090.200/C538209 |C23.888.592.763.393.341.186/C538209 |F03.087.400/C538209

Synonyms:

Slim Mappings:

Ear-nose-throat disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C538209
MeSH: C538209
OMIM: 117300;

Genes: ITM2B;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001251	Ataxia
3	HP:0011970	Cerebral amyloid angiopathy
4	HP:0000726	Dementia
5	HP:0000365	Hearing impairment
6	HP:0002080	Intention tremor
7	HP:0002185	Neurofibrillary tangles
8	HP:0001115	Posterior polar cataract
9	HP:0000709	Psychosis
10	HP:0001257	Spasticity

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_021999.4(ITM2B):c.786_795dupTTTAATTTGT (p.Ser266Phefs)	9445	ITM2B	Pathogenic	606231166	RCV000006346;	N	MedGen:C1861735,OMIM:117300,ORPHA:97346	13	48835345	48835354	NM_021999.4:c.786_795dupTTTAATTTGT	NP_068839.1:p.Ser266Phefs	NC_000013.10:g.48835345_48835354dupTTTAATTTGT	OMIM Allelic Variant:603904.0002	C1861735 117300 Dementia, familial Danish