HOMOZYGOUS 11p15-p14 DELETION SYNDROME
General Information (adopted from Orphanet):
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Synonyms, Signs:
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HYPERINSULINISM, INFANTILE, WITH ENTEROPATHY AND DEAFNESS
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Number of Symptoms
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16
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OrphanetNr:
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OMIM Id:
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606528
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0002909)
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Generalized aminoaciduria |
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13 / 7739
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2
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(HPO:0000124)
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Renal tubular dysfunction |
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46 / 7739
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3
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(HPO:0008527)
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Congenital sensorineural hearing impairment |
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165 / 7739
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4
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(HPO:0000842)
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Hyperinsulinemia |
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39 / 7739
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5
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(HPO:0008872)
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Feeding difficulties in infancy |
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153 / 7739
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6
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(HPO:0002242)
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Abnormality of the intestine |
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42 / 7739
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7
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(HPO:0002014)
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Diarrhea |
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225 / 7739
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8
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(HPO:0011968)
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Feeding difficulties |
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240 / 7739
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9
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(HPO:0002013)
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Vomiting |
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191 / 7739
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10
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(HPO:0001508)
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Failure to thrive |
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454 / 7739
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11
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(HPO:0001943)
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Hypoglycemia |
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131 / 7739
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12
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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13
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(OMIM)
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Intractable vomiting |
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1 / 7739
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14
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(OMIM)
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Homozygous 122Kb deletion 11p15-p14 |
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1 / 7739
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15
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(OMIM)
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Hearing loss, profound congenital sensorineural |
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3 / 7739
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16
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(OMIM)
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Small bowel biopsy shows crypt hyperplastic villus atrophy, inflammatory infiltrate within the lamina propria, and disorganized surface epithelium |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |