Isolated sedoheptulokinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SHPKD Isolated SHPK deficiency Sedoheptulokinase deficiency |
| Number of Symptoms | 31 |
| OrphanetNr: | |
| OMIM Id: |
617213
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases - PMID: 25647543 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 25647543 [IBIS] |
| Age of onset: |
Antenatal, Neonatal - PMID: 25647543 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT |
Comment:
| Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense mutation in SHPK (PMID:25647543). |
Symptom Information:
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(HPO:0002028) | Chronic diarrhea | 25647543 | IBIS | 51 / 7739 | ||
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(HPO:0008872) | Feeding difficulties in infancy | 25647543 | IBIS | 153 / 7739 | ||
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(HPO:0004322) | Short stature | 25647543 | IBIS | 1232 / 7739 | ||
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(HPO:0001531) | Failure to thrive in infancy | 25647543 | IBIS | 26 / 7739 | ||
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(HPO:0011998) | Postprandial hyperglycemia | 25647543 | IBIS | 5 / 7739 | ||
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(HPO:0001943) | Hypoglycemia | 25647543 | IBIS | 131 / 7739 | ||
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(HPO:0001903) | Anemia | 25647543 | IBIS | 289 / 7739 | ||
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(HPO:0004840) | Hypochromic microcytic anemia | 25647543 | IBIS | 15 / 7739 | ||
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(HPO:0008220) | Hypocortisolemia | 25647543 | IBIS | 6 / 7739 | ||
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(HPO:0002342) | Intellectual disability, moderate | 25647543 | IBIS | 37 / 7739 | ||
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(HPO:0008846) | Severe intrauterine growth retardation | 25647543 | IBIS | 5 / 7739 | ||
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(HPO:0001181) | Adducted thumb | 25647543 | IBIS | 31 / 7739 | ||
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(HPO:0001385) | Hip dysplasia | 25647543 | IBIS | 242 / 7739 | ||
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(HPO:0001773) | Short foot | 25647543 | IBIS | 86 / 7739 | ||
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(HPO:0002804) | Arthrogryposis multiplex congenita | 25647543 | IBIS | 93 / 7739 | ||
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(HPO:0000256) | Macrocephaly | 25647543 | IBIS | 298 / 7739 | ||
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(HPO:0002570) | Steatorrhea | 25647543 | IBIS | 31 / 7739 | ||
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(HPO:0004389) | Intestinal pseudo-obstruction | 25647543 | IBIS | 7 / 7739 | ||
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(HPO:0002611) | Cholestatic liver disease | 25647543 | IBIS | 19 / 7739 | ||
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(HPO:0001396) | Cholestasis | 25647543 | IBIS | 136 / 7739 | ||
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(HPO:0001540) | Diastasis recti | 25647543 | IBIS | 23 / 7739 | ||
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(HPO:0000023) | Inguinal hernia | 25647543 | IBIS | 181 / 7739 | ||
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(HPO:0001712) | Left ventricular hypertrophy | 25647543 | IBIS | 76 / 7739 | ||
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(HPO:0001999) | Abnormal facial shape | 25647543 | IBIS | 169 / 7739 | ||
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(HPO:0000407) | Sensorineural hearing impairment | 25647543 | IBIS | 524 / 7739 | ||
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(HPO:0004713) | Reversible renal failure | 25647543 | IBIS | 2 / 7739 | ||
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(HPO:0002803) | Congenital contracture | 25647543 | IBIS | 45 / 7739 | ||
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(HPO:0002308) | Arnold-Chiari malformation | 25647543 | IBIS | 42 / 7739 | ||
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(HPO:0006808) | Cerebral hypomyelination | 25647543 | IBIS | 16 / 7739 | ||
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(HPO:0012768) | Neonatal asphyxia | 25647543 | IBIS | 1 / 7739 | ||
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(HPO:0012157) | Subcortical cerebral atrophy | 25647543 | IBIS | 3 / 7739 |
Associated genes:
| SHPK; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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