SORDD
MCID: SRB001
MIFTS: 21

Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy (SORDD)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

MalaCards integrated aliases for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy:

Name: Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 57 72 6
Sordd 57 72
Sorbitol Dehydrogenase Deficiency 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
later onset has been reported
onset usually in first or second decades


HPO:

31
sorbitol dehydrogenase deficiency with peripheral neuropathy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618912

Summaries for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

OMIM® : 57 Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORDD) is an autosomal recessive disorder characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking. Onset of symptoms is usually in the first or second decades of life, although later adult onset has been reported; the disorder is slowly progressive. Nerve conduction velocities are most consistent with an axonal process. More variable features include distal sensory impairment, upper limb tremor, and scoliosis. Laboratory studies show increased serum sorbitol (summary by Cortese et al., 2020). (618912) (Updated 05-Apr-2021)

MalaCards based summary : Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy, also known as sordd, is related to cataract and peripheral nervous system disease. An important gene associated with Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy is SORD (Sorbitol Dehydrogenase). Related phenotypes are proximal muscle weakness in lower limbs and impaired pain sensation

UniProtKB/Swiss-Prot : 72 Sorbitol dehydrogenase deficiency with peripheral neuropathy: An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss.

Related Diseases for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Diseases related to Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 10.4
2 peripheral nervous system disease 10.0
3 neuropathy 10.0
4 diabetic neuropathy 10.0

Symptoms & Phenotypes for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Human phenotypes related to Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 proximal muscle weakness in lower limbs 31 very rare (1%) HP:0008994
2 impaired pain sensation 31 very rare (1%) HP:0007328
3 decreased motor nerve conduction velocity 31 very rare (1%) HP:0003431
4 impaired vibratory sensation 31 very rare (1%) HP:0002495
5 distal lower limb muscle weakness 31 very rare (1%) HP:0009053
6 distal upper limb muscle weakness 31 very rare (1%) HP:0008959
7 decreased amplitude of sensory action potentials 31 very rare (1%) HP:0007078
8 increased serum sorbitol concentration 31 very rare (1%) HP:0033124
9 scoliosis 31 HP:0002650
10 pes cavus 31 HP:0001761
11 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Feet:
pes cavus
foot deformities

Neurologic Peripheral Nervous System:
distal sensory impairment (in some patients)
walking difficulties
axonal motor peripheral neuropathy
distal motor impairment of the lower limbs due to peripheral neuropathy
distal upper limb involvement (in some patients)
more
Skeletal Spine:
scoliosis (in some patients)

Laboratory Abnormalities:
increased serum sorbitol

Clinical features from OMIM®:

618912 (Updated 05-Apr-2021)

Drugs & Therapeutics for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Search Clinical Trials , NIH Clinical Center for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Genetic Tests for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Anatomical Context for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Publications for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Articles related to Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy:

(show all 13)
# Title Authors PMID Year
1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. 57 6
32367058 2020
2
Effects of sorbitol dehydrogenase deficiency on nerve conduction in experimental diabetic mice. 61 57
9604875 1998
3
Redox state-dependent and sorbitol accumulation-independent diabetic albuminuria in mice with transgene-derived human aldose reductase and sorbitol dehydrogenase deficiency. 61
14968292 2004
4
[Effects of transgenic human aldose reductase and sorbitol dehydrogenase deficiency on diabetes complications]. 61
12355842 2002
5
Aberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice. 61
9403062 1997
6
Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract. 61
7641773 1995
7
Cataract and metabolic disease. 61
2122117 1990
8
Plasma polyol levels in patients with cataract. 61
2122118 1990
9
Screening for red blood cell sorbitol dehydrogenase deficiency in patients with diabetes or cataracts. 61
3438060 1987
10
Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes. 61
6439586 1984
11
Sorbitol dehydrogenase deficiency in a family with congenital cataracts. 61
6434875 1984
12
A fluorimetric method for red blood cell sorbitol dehydrogenase activity. 61
6853734 1983
13
Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts. 61
7152518 1982

Variations for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

ClinVar genetic disease variations for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SORD NM_003104.6(SORD):c.895C>T (p.Arg299Ter) SNV Pathogenic 929257 GRCh37: 15:45364623-45364623
GRCh38: 15:45072425-45072425
2 SORD NM_003104.6(SORD):c.757del (p.Ala253fs) Deletion Pathogenic 929258 GRCh37: 15:45361217-45361217
GRCh38: 15:45069019-45069019

Expression for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Search GEO for disease gene expression data for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy.

Pathways for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

GO Terms for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

Sources for Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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