MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Microphthalmos (D008850)
Parent Node: Nystagmus, Congenital (D020417)
..Starting node ..Microphthalmia, Isolated, with Cataract 2 (C565876)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Brachydactyly-Nystagmus-Cerebellar Ataxia (C566192)
..Foveal Hypoplasia, Isolated (C565005)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Mental retardation Mietens Weber type (C537444)
..Microphthalmia, Isolated, with Cataract 2 (C565876)
..Nystagmus 1, congenital, X- linked (C537853)
..Nystagmus 2, congenital, autosomal dominant (C537854)
..Nystagmus 3, congenital, autosomal dominant (C537855)
..Nystagmus 4, congenital, autosomal dominant (C537856)
..NYSTAGMUS 5, CONGENITAL, X-LINKED (OMIM:300589)
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..NYSTAGMUS 6, CONGENITAL, X-LINKED (OMIM:300814)
..Nystagmus, Congenital Motor, Autosomal Recessive (C564938)
..O'Donnell Pappas syndrome (C537858)
..X-Linked Infantile Nystagmus (C580539)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7987

Name:

Microphthalmia, Isolated, with Cataract 2

Definition:

Alternative IDs:

OMIM:212550

ParentIDs:

MESH:D002386|MESH:D008850|MESH:D020417

TreeNumbers:

C10.292.562.675.300/C565876 |C11.250.566/C565876 |C11.510.245/C565876 |C11.590.400.300/C565876 |C16.131.384.666/C565876 |C16.614.643/C565876

Synonyms:

MCOPCT2 |Microphthalmia and Cataract 2 |Microphthalmia, Cataract, and Nystagmus |ODRMD |OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY

Slim Mappings:

Congenital abnormality|Eye disease|Infant-newborn disease|Nervous system disease

Reference:

MedGen: C565876
MeSH: C565876
OMIM: 212550;
MSeqDR :
Genes: BSCL2; GARS; SIX6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000518	Cataract NAMDC: Cataracts
3	HP:0000567	Chorioretinal coloboma	HP:0040283
4	HP:0000501	Glaucoma	HP:0040283
5	HP:0000666	Horizontal nystagmus
6	HP:0000612	Iris coloboma	HP:0040283
7	HP:0000568	Microphthalmia
8	HP:0000616	Miosis
9	HP:0000639	Nystagmus
10	HP:0000541	Retinal detachment	HP:0040283
11	HP:0000556	Retinal dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)	4990	SIX6	Pathogenic	786204851	RCV000169774;	N	MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930	14	60976226	60976226	14:g.60976226T>C	ClinGen:CA215052,OMIM:606326.0003	C1859311 212550 Cataract, microphthalmia and nystagmus;
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	4990	SIX6	Conflicting interpretations of pathogenicity	146737847	RCV000514964\|RCV000765177\|RCV001113381;	N	MedGen:C3661900\|MONDO:MONDO:0008799,MedGen:C1859773,OMIM:206900, Orphanet:77298; MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930\|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555	14	60976501	60976501	14:g.60976501G>A	ClinGen:CA7212586	CN517202 not provided;
NM_007374.3(SIX6):c.421C>A (p.His141Asn)	4990	SIX6	Benign	33912345	RCV000253819\|RCV000270432\|RCV000989235\|RCV001675733;	N	MedGen:CN169374\|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555\|MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930\|MedGen:C3661900	14	60976537	60976537	14:g.60976537C>A	ClinGen:CA7212590,UniProtKB:O95475#VAR_031631	CN235161 Anophthalmia - microphthalmia;
NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)	4990	SIX6	Uncertain significance	104894480	RCV000004686;	N	MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930	14	60976609	60976609	14:g.60976609A>G	ClinGen:CA214925,UniProtKB:O95475#VAR_026241,OMIM:606326.0001	C1859311 212550 Cataract, microphthalmia and nystagmus;
NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	4990	SIX6	Likely pathogenic	786205142	RCV000169773\|RCV000414384;	N	MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930\|MedGen:C3661900	14	60976648	60976652	14:g.60976648_60976652del	ClinGen:CA215051,OMIM:606326.0002	C1859311 212550 Cataract, microphthalmia and nystagmus;
NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)	4990	SIX6	Likely pathogenic	748077751	RCV001090165;	N	MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930	14	60976665	60976665	14:g.60976665C>G	-
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)	4990	SIX6	Conflicting interpretations of pathogenicity	45549246	RCV000625468\|RCV000877992\|RCV001113383\|RCV001700427;	N	MONDO:MONDO:0008927,MedGen:C4225424,OMIM:212550, Orphanet:435930\|MedGen:C3661900\|MONDO:MONDO:0020147,MedGen:C5680330, Orphanet:98555\|MedGen:CN169374	14	60977843	60977843	NC_000014.8:g.60977843T>G	ClinGen:CA7212639	C1859311 212550 Cataract, microphthalmia and nystagmus;

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