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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: Hearing Loss, Central (D006313)
Parent Node: Muscular Disorders, Atrophic (D020966)
Parent Node: Optic Atrophies, Hereditary (D015418)
Parent Node: Polyneuropathies (D011115)
..Starting node ..Optic atrophy polyneuropathy deafness (C537129)
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:

8284

Name:

Optic atrophy polyneuropathy deafness

Definition:

Alternative IDs:

OMIM:311070

ParentIDs:

MESH:D006313|MESH:D011115|MESH:D015418|MESH:D020966

TreeNumbers:

C05.651.534/C537129 |C09.218.458.341.887.432/C537129 |C09.218.807.186.432/C537129 |C10.228.140.068.432/C537129 |C10.292.700.225.500/C537129 |C10.574.500.662/C537129 |C10.597.751.418.341.887.432/C537129 |C10.668.491.175/C537129 |C10.668.550/C537129 |C10.668.829.80

Synonyms:

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5 |CMTX5 |Familial opticoacoustic nerve degeneration and polyneuropathy |Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive |Optic

Slim Mappings:

Reference:

MedGen: C537129
MeSH: C537129
OMIM: 311070;

Genes: PRPS1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0002522	Areflexia of lower limbs
4	HP:0003693	Distal amyotrophy
5	HP:0002460	Distal muscle weakness
6	HP:0002936	Distal sensory impairment
7	HP:0001288	Gait disturbance
8	HP:0001270	Motor delay
9	HP:0003383	Onion bulb formation
10	HP:0000648	Optic atrophy
11	HP:0001761	Pes cavus
12	HP:0001271	Polyneuropathy
13	HP:0000529	Progressive visual loss
14	HP:0000510	Rod-cone dystrophy	HP:0040283
15	HP:0003481	Segmental peripheral demyelination/remyelination
16	HP:0000407	Sensorineural hearing impairment
17	HP:0003828	Variable expressivity

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_002764.3(PRPS1):c.46T>C (p.Ser16Pro)	5631	PRPS1	Pathogenic	869025594	RCV000208733;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014	X	106871904	106871904	NM_002764.3:c.46T>C	NP_002755.1:p.Ser16Pro	NC_000023.10:g.106871904T>C	OMIM Allelic Variant:311850.0020	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp)	5631	PRPS1	Pathogenic	80338731	RCV000010612;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014	X	106882531	106882531	NM_002764.3:c.129A>C	NP_002755.1:p.Glu43Asp	NC_000023.10:g.106882531A>C	OMIM Allelic Variant:311850.0009	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5
NM_002764.3(PRPS1):c.343A>G (p.Met115Val)	5631	PRPS1	Pathogenic	587781262	RCV000143859; RCV000143858;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014; MedGen:C1844677,OMIM:304500,OMIM:304590	X	106884168	106884168	NM_002764.3:c.343A>G	NP_002755.1:p.Met115Val	NC_000023.10:g.106884168A>G	OMIM Allelic Variant:311850.0022,VariO:0053	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5; C1844677 304500 Deafness, high-frequency sensorineural, X-linked; C1844677 304590 Deafness, high-frequency sensorineural, X-linked
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr)	5631	PRPS1	Pathogenic	80338732	RCV000010613;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014	X	106884169	106884169	NM_002764.3:c.344T>C	NP_002755.1:p.Met115Thr	NC_000023.10:g.106884169T>C	OMIM Allelic Variant:311850.0010	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly)	5631	PRPS1	Pathogenic	587777150	RCV000087131;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014	X	106884187	106884187	NM_002764.3:c.362C>G	NP_002755.1:p.Ala121Gly	X:g.106884187C>G	OMIM Allelic Variant:311850.0018	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe)	5631	PRPS1	Pathogenic	587781263	RCV000143860;	N	MedGen:C1839566,OMIM:311070,ORPHA:99014	X	106893230	106893230	NM_002764.3:c.925G>T	NP_002755.1:p.Val309Phe	NC_000023.10:g.106893230G>T	OMIM Allelic Variant:311850.0023,VariO:0053	C1839566 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5