Inflammatory Skin and Bowel Disease, Neonatal, 1

Alternative Names

  • NISBD1
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

614328

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p25.1

Description

NISBD1 is an extremely rare disorder of neonatal onset characterized by life-long inflammation affecting the skin, hair and gut. Children are affected with diarrhea that worsens in parallel with increases in severity of skin disease.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614328.1.1LebanonFemaleYesYes Bloody diarrhea; Erythema; Neonatal on...NM_003183.5:c.603_606delCAGAHomozygousAutosomal, RecessiveBlaydon et al, 2011
614328.1.2LebanonMaleYesYes Bloody diarrhea; Erythema; Neonatal on...NM_003183.5:c.603_606delCAGAHomozygousAutosomal, RecessiveBlaydon et al, 2011 Brother of 614328.1....
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