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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: Ataxia (D001259)
Parent Node: Retinitis Pigmentosa (D012174)
..Starting node ..Posterior column ataxia with retinitis pigmentosa (C536343)
Child Nodes:
Sister Nodes:
..Aldred syndrome (C537046)
..Alstrom Syndrome (D056769)
..Amaurosis hypertrichosis (C536604)
..Bork Stender Schmidt syndrome (C536576)
..Chang Davidson Carlson syndrome (C538075)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..Cone Dystrophy 3 (C566579)
..Cone Dystrophy 4 (C567758)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone rod dystrophy amelogenesis imperfecta (C535976)
..Cone-Rod Dystrophy 1 (C563469)
..Cone-Rod Dystrophy 10 (C564597)
..Cone-Rod Dystrophy 11 (C563671)
..Cone-Rod Dystrophy 12 (C567206)
..Cone-Rod Dystrophy 13 (C567698)
..CONE-ROD DYSTROPHY 2 (OMIM:120970)
..Cone-Rod Dystrophy 3 (C565827)
..Cone-Rod Dystrophy 5 (C563415)
..Cone-Rod Dystrophy 7 (C566350)
..Cone-Rod Dystrophy 8 (C565322)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Flynn Aird syndrome (C537066)
..Furukawa Takagi Nakao syndrome (C538193)
..Hardikar syndrome (C535632)
..Kearns-Sayre Syndrome (D007625) 1
..Leber Congenital Amaurosis 14 (C567636)
..Leber Congenital Amaurosis 3 (C565814)
..Light Fixation Seizure Syndrome (C566367)
..Mainzer-Saldino Disease (C535463)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Newfoundland Rod-Cone Dystrophy (C564391)
..Oculotrichodysplasia (C564934)
..Oliver-McFarlane syndrome (C536554)
..Pallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..Peripheral Cone Dystrophy (C563813)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Posterior column ataxia with retinitis pigmentosa (C536343)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Retinal cone dystrophy 2 (C538363)
..Retinal Cone Dystrophy 3A (C566483)
..Retinal Cone Dystrophy 3B (C563678)
..Retinal Cone Dystrophy 4 (C566470)
..Retinitis pigmentosa 1 (C538365)
..Retinitis Pigmentosa 10 (C566715)
..Retinitis Pigmentosa 11 (C563991)
..Retinitis Pigmentosa 12 (C563999)
..Retinitis Pigmentosa 13 (C564008)
..Retinitis Pigmentosa 14 (C563992)
..Retinitis Pigmentosa 17 (C563437)
..Retinitis Pigmentosa 18 (C563320)
..Retinitis Pigmentosa 19 (C566637)
..Retinitis Pigmentosa 2 (C567523)
..Retinitis Pigmentosa 20 (C566718)
..Retinitis Pigmentosa 25 (C566425)
..Retinitis Pigmentosa 26 (C564249)
..Retinitis Pigmentosa 27 (C563526)
..Retinitis Pigmentosa 29 (C567403)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 30 (C564310)
..Retinitis Pigmentosa 31 (C563685)
..Retinitis Pigmentosa 32 (C563689)
..Retinitis Pigmentosa 33 (C563676)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 35 (C565206)
..Retinitis Pigmentosa 36 (C566431)
..Retinitis Pigmentosa 37 (C567005)
..Retinitis Pigmentosa 4 (C566706)
..Retinitis Pigmentosa 41 (C567422)
..Retinitis Pigmentosa 42 (C567854)
..Retinitis Pigmentosa 46 (C567249)
..RETINITIS PIGMENTOSA 50 (OMIM:613194)
..RETINITIS PIGMENTOSA 51 (OMIM:613464)
..RETINITIS PIGMENTOSA 54 (OMIM:613428)
..RETINITIS PIGMENTOSA 55 (OMIM:613575)
..RETINITIS PIGMENTOSA 56 (OMIM:613581)
..RETINITIS PIGMENTOSA 57 (OMIM:613582)
..RETINITIS PIGMENTOSA 58 (OMIM:613617)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa 7 (C564284)
..Retinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..Retinitis Pigmentosa 7, Digenic (C567263)
..Retinitis Pigmentosa 9 (C566716)
..Retinitis Pigmentosa Inversa with Deafness (C564842)
..Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..Retinitis Pigmentosa, Concentric (C567712)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Retinitis Pigmentosa, Late-Adult Onset (C564840)
..Retinitis Pigmentosa, Late-Onset Dominant (C567369)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Retinitis Pigmentosa, Y-Linked (C564035)
..Retinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..RHYNS syndrome (C537612)
..Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..Senior-Loken syndrome 4 (C537581)
..Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Tapetoretinal Degeneration with Ataxia (C564788)
..Usher Syndromes (D052245) 19
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9166

Name:

Posterior column ataxia with retinitis pigmentosa

Definition:

Alternative IDs:

OMIM:609033

ParentIDs:

MESH:D001259|MESH:D012174

TreeNumbers:

C10.597.350.090/C536343 |C11.270.684/C536343 |C11.768.585.658.500/C536343 |C16.320.290.684/C536343 |C23.888.592.350.090/C536343

Synonyms:

AXPC1 |PCARP

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536343
MeSH: C536343
OMIM: 609033;

Genes: FLVCR1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0002571	Achalasia
4	HP:0001284	Areflexia
5	HP:0000618	Blindness
6	HP:0007737	Bone spicule pigmentation of the retina
7	HP:0002136	Broad-based gait
8	HP:0012385	Camptodactyly
9	HP:0003448	Decreased sensory nerve conduction velocity
10	HP:0002460	Distal muscle weakness
11	HP:0002166	Impaired vibration sensation in the lower limbs
12	HP:0001249	Intellectual disability	HP:0040283
13	HP:0009473	Joint contracture of the hand
14	HP:0000662	Nyctalopia
15	HP:0000648	Optic atrophy
16	HP:0002403	Positive Romberg sign
17	HP:0000010	Recurrent urinary tract infections
18	HP:0030529	Ring scotoma
19	HP:0000510	Rod-cone dystrophy
20	HP:0002650	Scoliosis
21	HP:0000575	Scotoma
22	HP:0010871	Sensory ataxia
23	HP:0003202	Skeletal muscle atrophy
24	HP:0003677	Slowly progressive
25	HP:0000550	Undetectable electroretinogram
26	HP:0000020	Urinary incontinence

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_014053.3(FLVCR1):c.361A>G (p.Asn121Asp)	28982	FLVCR1	Pathogenic	267606820	RCV000001933;	N	MedGen:C1836916,OMIM:609033,ORPHA:88628	1	213032155	213032155	NM_014053.3:c.361A>G	NP_054772.1:p.Asn121Asp	NC_000001.10:g.213032155A>G	OMIM Allelic Variant:609144.0001	C1836916 609033 Posterior column ataxia with retinitis pigmentosa
NM_014053.3(FLVCR1):c.574T>C (p.Cys192Arg)	28982	FLVCR1	Pathogenic	267606821	RCV000001935;	N	MedGen:C1836916,OMIM:609033,ORPHA:88628	1	213032368	213032368	NM_014053.3:c.574T>C	NP_054772.1:p.Cys192Arg	NC_000001.10:g.213032368T>C	OMIM Allelic Variant:609144.0003	C1836916 609033 Posterior column ataxia with retinitis pigmentosa
NM_014053.3(FLVCR1):c.721G>A (p.Ala241Thr)	28982	FLVCR1	Pathogenic	267606819	RCV000001934;	N	MedGen:C1836916,OMIM:609033,ORPHA:88628	1	213032515	213032515	NM_014053.3:c.721G>A	NP_054772.1:p.Ala241Thr	NC_000001.10:g.213032515G>A	OMIM Allelic Variant:609144.0002	C1836916 609033 Posterior column ataxia with retinitis pigmentosa