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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

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

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Peripheral Nervous System Diseases (D010523)
Parent Node: Vestibulocochlear Nerve Diseases (D000160)
..Starting node ..Deafness, X-Linked 5 (C564472)
Child Nodes:
Sister Nodes:
..Cogan Syndrome (D055952) 2
..Deafness, X-Linked 5 (C564472)
..Neuroma, Acoustic (D009464) 1
..Vestibular Neuronitis (D020338)
..Vestibulocochlear Dysfunction, Progressive (C536346)
..Vestibulocochlear Nerve Injuries (D061285)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3134

Name:

Deafness, X-Linked 5

Definition:

Alternative IDs:

OMIM:300614

ParentIDs:

MESH:D000160|MESH:D006319|MESH:D010523|MESH:D040181

TreeNumbers:

C09.218.458.341.887/C564472 |C09.218.807.800/C564472 |C10.292.910/C564472 |C10.597.751.418.341.887/C564472 |C10.668.829/C564472 |C16.320.322/C564472 |C23.888.592.763.393.341.887/C564472

Synonyms:

Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy |AUNX1 |DFNX5

Slim Mappings:

Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564472
MeSH: C564472
OMIM: 300614;

Genes: AUNX1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0004454	Abnormal middle ear reflexes
3	HP:0001963	Abnormal speech discrimination
4	HP:0002936	Distal sensory impairment
5	HP:0000365	Hearing impairment
6	HP:0003390	Sensory axonal neuropathy
7	HP:0000360	Tinnitus
8	HP:0002317	Unsteady gait

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_004208.3(AIFM1):c.1678T>C (p.Tyr560His)	9131	AIFM1	Likely pathogenic	724160024	RCV000149868;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129264037	129264037	NM_004208.3:c.1678T>C	NP_004199.1:p.Tyr560His	NC_000023.10:g.129264037A>G	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1492G>A (p.Val498Met)	9131	AIFM1	Likely pathogenic	724160023	RCV000149867;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129265731	129265731	NM_004208.3:c.1492G>A	NP_004199.1:p.Val498Met	NC_000023.10:g.129265731C>T	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1424C>T (p.Pro475Leu)	9131	AIFM1	Likely pathogenic	724160022	RCV000149866;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129267312	129267312	NM_004208.3:c.1424C>T	NP_004199.1:p.Pro475Leu	NC_000023.10:g.129267312G>A	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1352G>A (p.Arg451Gln)	9131	AIFM1	Pathogenic	863225431	RCV000202363;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129267384	129267384	NM_004208.3:c.1352G>A	NP_004199.1:p.Arg451Gln	NC_000023.10:g.129267384C>T	OMIM Allelic Variant:300169.0003	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1319C>T (p.Ala440Val)	9131	AIFM1	Likely pathogenic	724160025	RCV000149869;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129267417	129267417	NM_004208.3:c.1319C>T	NP_004199.1:p.Ala440Val	NC_000023.10:g.129267417G>A	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1265G>A (p.Arg422Gln)	9131	AIFM1	Likely pathogenic;Pathogenic	724160021	RCV000149865;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129270060	129270060	NM_004208.3:c.1265G>A	NP_004199.1:p.Arg422Gln	NC_000023.10:g.129270060C>T	OMIM Allelic Variant:300169.0007	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1264C>T (p.Arg422Trp)	9131	AIFM1	Likely pathogenic;Pathogenic	724160020	RCV000149864;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129270061	129270061	NM_004208.3:c.1264C>T	NP_004199.1:p.Arg422Trp	NC_000023.10:g.129270061G>A	OMIM Allelic Variant:300169.0006	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1113C>T (p.Ser371=)	9131	AIFM1	Likely benign	724160027	RCV000149871;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129270669	129270669	NM_004208.3:c.1113C>T	NP_004199.1:p.Ser371=	NC_000023.10:g.129270669G>A	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1097A>G (p.Asn366Ser)	9131	AIFM1	Likely pathogenic	724160019	RCV000149863;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129270685	129270685	NM_004208.3:c.1097A>G	NP_004199.1:p.Asn366Ser	NC_000023.10:g.129270685T>C	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1078G>C (p.Gly360Arg)	9131	AIFM1	Likely pathogenic	724160026	RCV000149870;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129270704	129270704	NM_004208.3:c.1078G>C	NP_004199.1:p.Gly360Arg	NC_000023.10:g.129270704C>G	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.1030C>T (p.Leu344Phe)	9131	AIFM1	Likely pathogenic;Pathogenic	184474885	RCV000149862;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129271098	129271098	NM_004208.3:c.1030C>T	NP_004199.1:p.Leu344Phe	NC_000023.10:g.129271098G>A	OMIM Allelic Variant:300169.0004	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.860T>C (p.Ile287Thr)	9131	AIFM1	Likely pathogenic	724160018	RCV000149861;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129272675	129272675	NM_004208.3:c.860T>C	NP_004199.1:p.Ile287Thr	NC_000023.10:g.129272675A>G	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.845C>T (p.Thr282Met)	9131	AIFM1	Likely pathogenic	724160017	RCV000149860;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129273783	129273783	NM_004208.3:c.845C>T	NP_004199.1:p.Thr282Met	NC_000023.10:g.129273783G>A	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.778A>G (p.Thr260Ala)	9131	AIFM1	Pathogenic	863225432	RCV000202359;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129274511	129274511	NM_004208.3:c.778A>G	NP_004199.1:p.Thr260Ala	NC_000023.10:g.129274511T>C	OMIM Allelic Variant:300169.0005	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.572_573delTGinsCT (p.Leu191Pro)	9131	AIFM1	Likely pathogenic	724160016	RCV000149859;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129281500	129281501	NM_004208.3:c.572_573delTGinsCT	NP_004199.1:p.Leu191Pro	NC_000023.10:g.129281500_129281501delCAinsAG	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.434C>T (p.Ala145Val)	9131	AIFM1	Likely pathogenic	724160015	RCV000149858;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129281767	129281767	NM_004208.3:c.434C>T	NP_004199.1:p.Ala145Val	NC_000023.10:g.129281767G>A	-	C1845095 300614 Deafness, X-linked 5
NM_004208.3(AIFM1):c.-123G>C	9131	AIFM1	Likely pathogenic	724160014	RCV000149857;	N	Gene:751798,MedGen:C1845095,OMIM:300614,ORPHA:139583	X	129299753	129299753	NM_004208.3:c.-123G>C		NC_000023.10:g.129299753C>G	-	C1845095 300614 Deafness, X-linked 5