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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: Chorea (D002819)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Neuroacanthocytosis (D054546)
Child Nodes:
........Neuroacanthocytosis, Mcleod Type (C564038)
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lesch-Nyhan Syndrome (D007926) 1
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation, X-Linked (D038901) 134
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Rett Syndrome (D015518) 5
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7930

Name:

Neuroacanthocytosis

Definition:

An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

Alternative IDs:

OMIM:200150

ParentIDs:

MESH:D002819|MESH:D020271

TreeNumbers:

C10.228.662.262.249.937 |C16.320.400.550

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D054546
MeSH: D054546
OMIM: 200150;

Genes: VPS13A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001927	Acanthocytosis
3	HP:0000718	Aggressive behavior
4	HP:0000739	Anxiety
5	HP:0001284	Areflexia
6	HP:0002340	Caudate atrophy
7	HP:0000726	Dementia	HP:0040283
8	HP:0000734	Disinhibition
9	HP:0002307	Drooling
10	HP:0001260	Dysarthria
11	HP:0002015	Dysphagia
12	HP:0001332	Dystonia
13	HP:0003236	Elevated circulating creatine kinase concentration
14	HP:0001265	Hyporeflexia
15	HP:0003690	Limb muscle weakness
16	HP:0001575	obsolete Mood changes
17	HP:0002310	Orofacial dyskinesia
18	HP:0001300	Parkinsonism
19	HP:0000751	Personality changes
20	HP:0001761	Pes cavus
21	HP:0003676	Progressive
22	HP:0007326	Progressive choreoathetosis
23	HP:0000709	Psychosis
24	HP:0001250	Seizure
25	HP:0008767	Self-mutilation of tongue and lips due to involuntary movements
26	HP:0000763	Sensory neuropathy
27	HP:0003202	Skeletal muscle atrophy
28	HP:0100033	Tics

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_033305.2(VPS13A):c.269T>A (p.Ile90Lys)	23230	VPS13A	Pathogenic	119477052	RCV000004946;	N	MedGen:C0393576,OMIM:200150,ORPHA:2388	9	79820310	79820310	NM_033305.2:c.269T>A	NP_150648.2:p.Ile90Lys	NC_000009.11:g.79820310T>A	OMIM Allelic Variant:605978.0001	C0393576 200150 Choreoacanthocytosis
NM_033305.2(VPS13A):c.622C>T (p.Arg208Ter)	23230	VPS13A	Pathogenic	119477053	RCV000004949;	N	MedGen:C0393576,OMIM:200150,ORPHA:2388	9	79828156	79828156	NM_033305.2:c.622C>T	NP_150648.2:p.Arg208Ter	NC_000009.11:g.79828156C>T	OMIM Allelic Variant:605978.0004	C0393576 200150 Choreoacanthocytosis