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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: Hypogonadism (D007006)
Parent Node: Retinal Dystrophies (D058499)
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2159

Name:

Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism

Definition:

Alternative IDs:

ParentIDs:

MESH:D007006|MESH:D020754|MESH:D058499

TreeNumbers:

C10.228.140.252.190.530/C565850 |C10.228.140.252.700.700/C565850 |C10.228.854.787.875/C565850 |C10.574.500.825.700/C565850 |C10.597.350.090.500.530/C565850 |C11.768.585.658/C565850 |C16.320.400.780.875/C565850 |C19.391.482/C565850

Synonyms:

Boucher-Neuhauser Syndrome

Slim Mappings:

Endocrine system disease|Eye disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C565850
MeSH: C565850
OMIM: 215470;

Genes: PNPLA6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0002127	Abnormal upper motor neuron morphology	HP:0040283
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0001284	Areflexia
6	HP:0001251	Ataxia
7	HP:0001272	Cerebellar atrophy
8	HP:0001135	Chorioretinal dystrophy
9	HP:0003693	Distal amyotrophy
10	HP:0000044	Hypogonadotropic hypogonadism
11	HP:0001265	Hyporeflexia
12	HP:0002080	Intention tremor
13	HP:0000613	Photophobia
14	HP:0003676	Progressive
15	HP:0000529	Progressive visual loss
16	HP:0000556	Retinal dystrophy
17	HP:0002168	Scanning speech
18	HP:0001257	Spasticity	HP:0040283
19	HP:0007263	Spinocerebellar atrophy

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_006702.4(PNPLA6):c.1126dupG (p.Asp376Glyfs)	10908	PNPLA6	Pathogenic	587777853	RCV000144694;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7606944	7606944	NM_006702.4:c.1126dupG	NP_006693.3:p.Asp376Glyfs		OMIM Allelic Variant:603197.0011	C1859093 215470 Boucher Neuhauser syndrome
NM_001166111.1(PNPLA6):c.1732G>T	10908	PNPLA6	Pathogenic	587777615	RCV000133462;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7614889	7614889	NM_001166111.1:c.1732G>T		19:g.7614889G>T	OMIM Allelic Variant:603197.0007	C1859093 215470 Boucher Neuhauser syndrome
NM_001166111.1(PNPLA6):c.2212-1G>C	10908	PNPLA6	Pathogenic	606231249	RCV000087298;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7616247	7616247	NM_001166111.1:c.2212-1G>C		NC_000019.9:g.7616247G>C	OMIM Allelic Variant:603197.0005	C1859093 215470 Boucher Neuhauser syndrome
NM_006702.4(PNPLA6):c.3029C>T (p.Thr1010Ile)	10908	PNPLA6	Pathogenic	587777181	RCV000087297;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7621388	7621388	NM_006702.4:c.3029C>T	NP_006693.3:p.Thr1010Ile	19:g.7621388C>T	OMIM Allelic Variant:603197.0004	C1859093 215470 Boucher Neuhauser syndrome
NM_006702.4(PNPLA6):c.3053T>C (p.Phe1018Ser)	10908	PNPLA6	Pathogenic	587777183	RCV000087300;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7621412	7621412	NM_006702.4:c.3053T>C	NP_006693.3:p.Phe1018Ser	19:g.7621412T>C	OMIM Allelic Variant:603197.0008	C1859093 215470 Boucher Neuhauser syndrome
NM_006702.4(PNPLA6):c.3184G>A (p.Val1062Met)	10908	PNPLA6	Pathogenic	587777182	RCV000087299;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7622071	7622071	NM_006702.4:c.3184G>A	NP_006693.3:p.Val1062Met	19:g.7622071G>A	OMIM Allelic Variant:603197.0006	C1859093 215470 Boucher Neuhauser syndrome
NM_006702.4(PNPLA6):c.3295C>T (p.Arg1099Cys)	10908	PNPLA6	Pathogenic	587777854	RCV000144695;	N	MedGen:C1859093,OMIM:215470,ORPHA:1180	19	7623747	7623747	NM_006702.4:c.3295C>T	NP_006693.3:p.Arg1099Cys	NC_000019.9:g.7623747C>T	OMIM Allelic Variant:603197.0012	C1859093 215470 Boucher Neuhauser syndrome