KBG syndrome is a rare genetic disease caused by a mutation in the ANKRD11 gene, located at position 16q24.3 on the chromosomes. Only about one hundred cases have been reported in the literature, although the syndrome is expected to be under-reported. It was first described by Herrmann in 1975, in three separate families. Herrmann gave it the name KBG after the initials of the surnames of those affected families, which are not known to the general public, so the label records the history of its discovery rather than any feature of the disease itself.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:2332 KBG syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q87.8", "Source": "ICD-10"
2. MedlinePlus Genetics (National Library of Medicine): KBG syndrome - MedlinePlus Genetics
MedlinePlus Genetics (National Library of Medicine)Causes
KBG syndrome is caused by mutations in the ANKRD11 gene.
Description and Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
View the Source 3. KBG syndrome (Wikipedia)
Lead section
rare genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3
Lead section [first-described-year]
The syndrome was first described by Herrmann in 1975 in three distinct families.
View the Source4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:2332Quote, ORPHA:2332
Point prevalence Class only <1 / 1 000 000
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