Johanson-Blizzard syndrome
Findings
No curated finding names Johanson-Blizzard syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0009479), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Third trimester onset
HPO, annotations 2026-09-02
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anal atresiaHPOHP:0002023
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- Conjunctival icterusHPOHP:0032106
- 1 of 1 reported patient
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentration
Show the remaining 43
- Intrahepatic cholestasisHPOHP:0001406
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Portal hypertensionHPOHP:0001409
- 1 of 1 reported patient
- Primary hypothyroidismHPOHP:0000832
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Severe intrauterine growth retardationHPOHP:0008846
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UBR1HGNC:16808
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Johanson-Blizzard syndrome
- Also called
- JBSpancreatic insufficiency, combined exocrine