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SORD

Synonyms
HEL-S-95n, RDH, SDH, SORD1, SORDD, XDH
External resources
Summary
Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
66
Likely pathogenic
0
VUS
10,481
Likely benign
1,610
Benign
24

Patient phenotypes

Proportions of phenotypes among 65 patients carring pathogenic or likely pathogenic variants on SORD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50.8%
Abnormality of the musculoskeletal system
40%
Abnormality of the eye
38.5%
Abnormality of head or neck
23.1%
Abnormality of limbs
13.8%
Growth abnormality
12.3%
Abnormality of the cardiovascular system
10.8%
Abnormality of the ear
10.8%
Abnormality of the genitourinary system
10.8%
Abnormality of the integument
9.2%
Abnormality of the digestive system
6.2%
Abnormality of the endocrine system
6.2%
Abnormality of the immune system
4.6%
Abnormality of prenatal development or birth
3.1%
Abnormality of blood and blood-forming tissues
1.5%
Abnormality of the respiratory system
1.5%
Neoplasm
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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