ORPHA:440713
Isolated sedoheptulokinase deficiency
Synonyms: Isolated SHPK deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol, and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated sedoheptulokinase deficiency | Isolated SHPK deficiency |
| fr | Déficit isolé en sédoheptulose kinase | Déficit isolé en SHPK |
| de | Sedoheptulose Kinase-Mangel, isolierte | SHPK-Mangel, isolierter |
| es | Deficiencia aislada de sedoheptuloquinasa | Deficiencia aislada de SHPK |
| it | Deficit isolato di sedoeptulosio chinasi | |
| nl | Geïsoleerde sedoheptulokinasedeficiëntie | Geïsoleerde SHPK-deficiëntie |
| pt | Défice de sedoheptulocinase isolado | |
| pl | Izolowany Niedobór sedoheptulokinazy | Izolowany Niedobór SHPK |
| cs | Izolovaný deficit sedoheptulokinázy | Izolovaný deficit SHPK |
| uk | Ізольований дефіцит седогептулокінази | Ізольований дефіцит SHPK |
| zh | 孤立性景天庚酮糖激酶缺乏症 | 孤立性FSHPK缺乏 |
| tr | İzole sedoheptülokinaz eksikliği | İzole SHPK eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617213 | E | validated | |
| ICD-10 | E74.8 | NTBT | attributed | validated |
| ICD-11 | 5C51.0 | NTBT | attributed | validated |
| MONDO | 0014969 | E | validated | |
| UMLS | C1291373 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79186Disorder of pentose phosphate metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SHPK | Disease-causing germline mutation(s) in | Assessed | HGNC:1492 | ENSG00000197417 | 605060 | 17p13.2 | sedoheptulokinase | 25647543[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25647543[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25647543[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
28 annotations · validated 2016-10-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001371 | Flexion contracture | |
| HP:0012768 | Neonatal asphyxia | |
| Frequent (79-30%) | ||
| HP:0011400 | Abnormal CNS myelination | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0100886 | Abnormality of globe location | |
| HP:0001903 | Anemia | |
| HP:0001623 | Breech presentation | |
| HP:0001396 | Cholestasis | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0001540 | Diastasis recti | |
| HP:0012115 | Hepatitis | |
| HP:0000348 | High forehead | |
| HP:0001385 | Hip dysplasia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0000601 | Hypotelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000239 | Large fontanelles | |
| HP:0000256 | Macrocephaly | |
| HP:0001409 | Portal hypertension | |
| HP:0011998 | Postprandial hyperglycemia | |
| HP:0000083 | Renal insufficiency | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0000586 | Shallow orbits | |
| HP:0004322 | Short stature | |
| HP:0002570 | Steatorrhea | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25647543[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440713
- This record as JSON: /data/d/440713.json