| Disease Browser
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Parent Node:
 Aging, Premature (D019588) | Parent Node:
Hearing Loss, Sensorineural (D006319) | Parent Node:
Mitochondrial Diseases (D028361) | Parent Node:
Optic Atrophy (D009896) | ..Starting node
.. Wolfram Syndrome 2 (C565733)
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Child Nodes:
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Sister Nodes: | ..Al Gazali Khidr Prem Chandran syndrome (C535616)
| ..Al Gazali Sabrinathan Nair syndrome (C535617)
| ..Behr syndrome (C537669)
| ..CAPOS syndrome (C535351)
| ..Costeff optic atrophy syndrome (C535311)
| ..Jensen syndrome (C537568)
| ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
| ..Mohr-Tranebjaerg syndrome (C535808)
| ..Optic Atrophies, Hereditary (D015418)  30
| ..OPTIC ATROPHY 2 (OMIM:311050)
| ..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497)
| ..Optic atrophy, X-linked (C537125)
| ..PEHO syndrome (C536317)
| ..Silengo Lerone Pelizza syndrome (C537336)
| ..Spastic Ataxia (C564815)
| ..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
| ..Treft Sanborn Carey syndrome (C536544)
| ..Warburg Sjo Fledelius syndrome (C536681)
| ..Wolfram Syndrome 2 (C565733)
| ..X-linked mental retardation Gustavson type (C536759)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 11780 |
| Name: | Wolfram Syndrome 2 |
| Definition: | |
| Alternative IDs: | OMIM:604928 |
| ParentIDs: | MESH:D006319|MESH:D009896|MESH:D019588|MESH:D028361 |
| TreeNumbers: | C09.218.458.341.887/C565733 |C10.292.700.225/C565733 |C10.597.751.418.341.887/C565733 |C11.640.451/C565733 |C18.452.660/C565733 |C23.888.069/C565733 |C23.888.592.763.393.341.887/C565733 |
| Synonyms: | WFS2 |
| Slim Mappings: | Ear-nose-throat disease|Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms |
| Reference: |
MedGen: C565733
MeSH: C565733
OMIM: 604928;
Genes: CISD2; | | 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_001008388.4(CISD2):c.109G>C (p.Glu37Gln) | -1 | - | Pathogenic | 63749888 | RCV000000940; | N | MedGen:C1858028,OMIM:604928 | 4 | 103806378 | 103806378 | NM_001008388.4:c.109G>C | NP_001008389.1:p.Glu37Gln | NC_000004.11:g.103806378G>C | OMIM Allelic Variant:611507.0001 | C1858028 604928 Wolfram syndrome 2 | | |
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