Aliases: SDH, XDH.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Sorbitol Dehydrogenase Deficiency | causative germline loss of function |
mechanism: Biallelic SORD Loss-of-Function Variants
variant: SORD c.458C>A (p.Ala153Asp); SORD c.757delG (p.Ala253GlnfsTer27); SORD c.908+1G>C; SORD/SORD2P gene-pseudogene inversion
|
| Charcot-Marie-Tooth Disease Type 2 |
untyped
Causative
|
mechanism: SORD Deficiency and Sorbitol Accumulation
subtype: SORD-CMT2
scoped to subtype: SORD-CMT2
|
| Distal Hereditary Motor Neuronopathy, Autosomal Recessive | untyped |
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| Charcot-Marie-Tooth disease MONDO:0015626 | AR | Definitive 2023-04-13 |
Charcot-Marie-Tooth Disease
not named
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.