Disease Browser
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Parent Node: Cataract (D002386) | Parent Node: Hepatomegaly (D006529) | Parent Node: Hyperkalemia (D006947) | Parent Node: Intellectual Disability (D008607) | Parent Node: Seizures (D012640) | Parent Node: Splenomegaly (D013163) | ..Starting node ..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
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Sister Nodes: | ..Banti's syndrome (C537903)
| ..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
| ..Dykes Markes Harper syndrome (C535727)
| ..Myeloid splenomegaly (C536094)
| ..Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T-Helper Cells (C566666)
| ..Tang Hsi Ryu syndrome (C536897)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 2874 |
Name: | Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002386|MESH:D006529|MESH:D006947|MESH:D008607|MESH:D012640|MESH:D013163 |
TreeNumbers: | C06.552.416/C563840 |C10.228.140.490.631/C563840 |C10.597.606.643/C563840 |C10.597.742/C563840 |C11.510.245/C563840 |C18.452.950.396/C563840 |C23.300.775.525/C563840 |C23.300.775.750/C563840 |C23.888.592.604.646/C563840 |C23.888.592.742/C563840 |F03.550.600/C56384 |
Synonyms: | Stomatin-Deficient Cryohydrocytosis with Neurologic Defects |
Slim Mappings: | Digestive system disease|Eye disease|Mental disorder|Metabolic disease|Nervous system disease|Pathology (anatomical condition)|Signs and symptoms |
Reference: |
MedGen: C563840
MeSH: C563840
OMIM: 608885;
Genes: | 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_006516.2(SLC2A1):c.1306_1308delATC (p.Ile436del) | 6513 | SLC2A1 | Pathogenic | 864309522 | RCV000202573; | N | MedGen:C1837206,OMIM:608885,ORPHA:168577 | 1 | 43392883 | 43392885 | NM_006516.2:c.1306_1308delATC | NP_006507.2:p.Ile436del | NC_000001.10:g.43392883_43392885delGAT | OMIM Allelic Variant:138140.0024 | C1837206 608885 Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly | | | NM_006516.2(SLC2A1):c.857G>A (p.Gly286Asp) | 6513 | SLC2A1 | Pathogenic | 864309514 | RCV000202596; | N | MedGen:C1837206,OMIM:608885,ORPHA:168577 | 1 | 43395274 | 43395274 | NM_006516.2:c.857G>A | NP_006507.2:p.Gly286Asp | NC_000001.10:g.43395274C>T | OMIM Allelic Variant:138140.0023 | C1837206 608885 Cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly | | |
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