Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype

Indian J Gastroenterol. 2014 Jan;33(1):82-4. doi: 10.1007/s12664-013-0391-5. Epub 2013 Sep 20.

Abstract

Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.

Publication types

  • Case Reports

MeSH terms

  • Anemia
  • Anus, Imperforate / blood
  • Anus, Imperforate / diagnosis*
  • Anus, Imperforate / genetics*
  • Chromosomes, Human, Pair 15 / genetics
  • Ectodermal Dysplasia / blood
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics*
  • Genes, Recessive / genetics
  • Genetic Testing
  • Genotype
  • Growth Disorders / blood
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Hearing Loss, Sensorineural / blood
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Hematologic Tests
  • Hepatitis
  • Humans
  • Hypothyroidism / blood
  • Hypothyroidism / diagnosis*
  • Hypothyroidism / genetics*
  • Infant
  • Intellectual Disability / blood
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Male
  • Mutation*
  • Nose / abnormalities*
  • Pancreatic Diseases / blood
  • Pancreatic Diseases / diagnosis*
  • Pancreatic Diseases / genetics*
  • Phenotype
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • UBR1 protein, human
  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Johanson Blizzard syndrome