isolated sedoheptulokinase deficiency
MONDO:0014969Mondo
Findings
No curated finding names isolated sedoheptulokinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Obligate (100% of cases)
- Flexion contractureHPOHP:0001371
- Obligate (100% of cases)
- Increased urinary sedoheptuloseHPOHP:0025157
- 2 of 2 reported patients
- Neonatal asphyxiaHPOHP:0012768
- Obligate (100% of cases)
- Abnormal CNS myelinationHPOHP:0011400
- Frequent (30% to 79% of cases)
- Abnormal renal tubule morphologyHPOHP:0000091
- Frequent (30% to 79% of cases)
- Abnormality of globe locationHPOHP:0100886
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Breech presentationHPOHP:0001623
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
- Frequent (30% to 79% of cases)
- Cholestatic liver diseaseHPOHP:0002611
- Frequent (30% to 79% of cases)
- Diastasis rectiHPOHP:0001540
- Frequent (30% to 79% of cases)
Show the remaining 17
- HepatitisHPOHP:0012115
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- Hip dysplasiaHPOHP:0001385
- Frequent (30% to 79% of cases)
- Hypochromic microcytic anemiaHPOHP:0004840
- Frequent (30% to 79% of cases)
- HypotelorismHPOHP:0000601
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SHPKHGNC:1492
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
3 names
Resolves to: isolated sedoheptulokinase deficiency
- Also called
- isolated SHPK deficiencysedoheptulokinase deficiencySHPKD