Disease Browser
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Parent Node: Cataract (D002386) | Parent Node: Microphthalmos (D008850) | Parent Node: Nystagmus, Congenital (D020417) | ..Starting node ..Microphthalmia, Isolated, with Cataract 2 (C565876)
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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)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 7228 |
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 |
Slim Mappings: | Congenital abnormality|Eye disease|Infant-newborn disease|Nervous system disease |
Reference: |
MedGen: C565876
MeSH: C565876
OMIM: 212550;
Genes: SIX6; | Phenotypes | | 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_007374.2(SIX6):c.110T>C (p.Leu37Pro) | 4990 | SIX6 | Pathogenic | 786204851 | RCV000169774; | N | MedGen:C1859311,OMIM:212550 | 14 | 60976226 | 60976226 | NM_007374.2:c.110T>C | NP_031400.2:p.Leu37Pro | NC_000014.8:g.60976226T>C | OMIM Allelic Variant:606326.0003 | C1859311 212550 Cataract, microphthalmia and nystagmus | | | NM_007374.2(SIX6):c.493A>G (p.Thr165Ala) | 4990 | SIX6 | Uncertain significance | 104894480 | RCV000004686; | N | MedGen:C1859311,OMIM:212550 | 14 | 60976609 | 60976609 | NM_007374.2:c.493A>G | NP_031400.2:p.Thr165Ala | NC_000014.8:g.60976609A>G | OMIM Allelic Variant:606326.0001 | C1859311 212550 Cataract, microphthalmia and nystagmus | | | NM_007374.2(SIX6):c.532_536delAACCG (p.Asn178Profs) | 4990 | SIX6 | Pathogenic | 786205142 | RCV000169773; | N | MedGen:C1859311,OMIM:212550 | 14 | 60976648 | 60976652 | NM_007374.2:c.532_536delAACCG | NP_031400.2:p.Asn178Profs | NC_000014.8:g.60976648_60976652delAACCG | OMIM Allelic Variant:606326.0002 | C1859311 212550 Cataract, microphthalmia and nystagmus | | |
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