Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Hypoalphalipoproteinemias (D052456)
Parent Node: Polyneuropathies (D011115)
..Starting node ..Tangier Disease (D013631)
Child Nodes:
Sister Nodes:
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..Alcoholic Neuropathy (D020269)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic atrophy polyneuropathy deafness (C537129)
..Paraneoplastic Polyneuropathy (D020364)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..POEMS Syndrome (D016878)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Polyradiculoneuropathy (D011129) 18
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Severe infantile axonal neuropathy (C537593)
..Tangier Disease (D013631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10870

Name:

Tangier Disease

Definition:

An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.

Alternative IDs:

OMIM:205400

ParentIDs:

MESH:D011115|MESH:D052456

TreeNumbers:

C10.668.829.800.875 |C16.320.565.398.500.330.750 |C18.452.584.500.875.330.750 |C18.452.648.398.500.330.750

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D013631
MeSH: D013631
OMIM: 205400;

Genes: ABCA1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001677	Coronary artery atherosclerosis
3	HP:0003233	Decreased HDL cholesterol concentration
4	HP:0003693	Distal amyotrophy
5	HP:0000958	Dry skin
6	HP:0000656	Ectropion
7	HP:0001349	Facial diplegia
8	HP:0002240	Hepatomegaly
9	HP:0001265	Hyporeflexia
10	HP:0007328	Impaired pain sensation
11	HP:0010829	Impaired temperature sensation
12	HP:0001712	Left ventricular hypertrophy
13	HP:0001658	Myocardial infarction
14	HP:0002164	Nail dysplasia
15	HP:0008404	Nail dystrophy
16	HP:0007759	Opacification of the corneal stroma
17	HP:0003477	Peripheral axonal neuropathy
18	HP:0011096	Peripheral demyelination
19	HP:0001744	Splenomegaly
20	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_000039.2(APOA1):c.67C>T (p.Gln23Ter)	-1	-	Pathogenic	387906570	RCV000019517;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	11	116707850	116707850	NM_000039.2:c.67C>T	NP_000030.1:p.Gln23Ter	NC_000011.9:g.116707850G>A	OMIM Allelic Variant:107680.0017	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.6241C>T (p.Arg2081Trp)	19	ABCA1	Pathogenic	137854501	RCV000010102;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107549221	107549221	NM_005502.3:c.6241C>T	NP_005493.2:p.Arg2081Trp	NC_000009.11:g.107549221G>A	OMIM Allelic Variant:600046.0021	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.4517C>T (p.Ser1506Leu)	19	ABCA1	Pathogenic	137854497	RCV000010104;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107566949	107566949	NM_005502.3:c.4517C>T	NP_005493.2:p.Ser1506Leu	NC_000009.11:g.107566949G>A	OMIM Allelic Variant:600046.0013	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.4429T>C (p.Cys1477Arg)	19	ABCA1	Pathogenic	137854494	RCV000010091;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107568557	107568557	NM_005502.3:c.4429T>C	NP_005493.2:p.Cys1477Arg	NC_000009.11:g.107568557A>G	OMIM Allelic Variant:600046.0001	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.3865G>A (p.Asp1289Asn)	19	ABCA1	Pathogenic	137854500	RCV000010111;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107576435	107576435	NM_005502.3:c.3865G>A	NP_005493.2:p.Asp1289Asn	NC_000009.11:g.107576435C>T	OMIM Allelic Variant:600046.0020	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.3738+1G>C	19	ABCA1	Pathogenic	796051872	RCV000010092;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107578423	107578423	NM_005502.3:c.3738+1G>C		NC_000009.11:g.107578423C>G	OMIM Allelic Variant:600046.0002	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.3343_3344delTC (p.Ser1115Profs)	19	ABCA1	Pathogenic	387906414	RCV000010101;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107581062	107581063	NM_005502.3:c.3343_3344delTC	NP_005493.2:p.Ser1115Profs	NC_000009.11:g.107581062_107581063delGA	OMIM Allelic Variant:600046.0011	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.2810C>T (p.Ala937Val)	19	ABCA1	Pathogenic	137854495	RCV000010097;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107584795	107584795	NM_005502.3:c.2810C>T	NP_005493.2:p.Ala937Val	NC_000009.11:g.107584795G>A	OMIM Allelic Variant:600046.0007	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.2804A>G (p.Asn935Ser)	19	ABCA1	Pathogenic	28937313	RCV000010096;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107584801	107584801	NM_005502.3:c.2804A>G	NP_005493.2:p.Asn935Ser	NC_000009.11:g.107584801T>C	OMIM Allelic Variant:600046.0006,OMIM Allelic Variant:600046.0014	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.2803A>C (p.Asn935His)	19	ABCA1	Pathogenic	28937314	RCV000010106;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107584802	107584802	NM_005502.3:c.2803A>C	NP_005493.2:p.Asn935His	NC_000009.11:g.107584802T>G	OMIM Allelic Variant:600046.0015	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.1824delG (p.Thr609Argfs)	19	ABCA1	Pathogenic	387906413	RCV000010095;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107593274	107593274	NM_005502.3:c.1824delG	NP_005493.2:p.Thr609Argfs	NC_000009.11:g.107593274delC	OMIM Allelic Variant:600046.0005,OMIM Allelic Variant:600046.0009	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.1790A>G (p.Gln597Arg)	19	ABCA1	Pathogenic	2853578	RCV000010093;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107593308	107593308	NM_005502.3:c.1790A>G	NP_005493.2:p.Gln597Arg	NC_000009.11:g.107593308T>C	OMIM Allelic Variant:600046.0003	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.1769G>C (p.Trp590Ser)	19	ABCA1	Pathogenic	137854496	RCV000010098;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107593329	107593329	NM_005502.3:c.1769G>C	NP_005493.2:p.Trp590Ser	NC_000009.11:g.107593329C>G	OMIM Allelic Variant:600046.0008	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.1719C>A (p.Tyr573Ter)	19	ABCA1	Pathogenic	137854502	RCV000010113;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107593379	107593379	NM_005502.3:c.1719C>A	NP_005493.2:p.Tyr573Ter	NC_000009.11:g.107593379G>T	OMIM Allelic Variant:600046.0023	C0039292 205400 Tangier disease
NM_005502.3(ABCA1):c.1584_1597delTGAGAGGAAGTTCTinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA	19	ABCA1	Pathogenic	-1	RCV000010100;	N	MedGen:C0039292,OMIM:205400,ORPHA:31150	9	107594021	107594034	NM_005502.3:c.1584_1597delTGAGAGGAAGTTCTinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACT	NP_005493.2:p.Glu529_Gly867delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer		OMIM Allelic Variant:600046.0010	C0039292 205400 Tangier disease