Johanson-blizzard Syndrome

Description

Johanson-Blizzard syndrome (JBS) is 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Johanson-blizzard Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment

And another 102 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available JOHANSON-BLIZZARD SYNDROME have a estimated birth prevalence of 0.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Johanson-blizzard Syndrome Is also known as jbs, nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness.

Researches and researchers

Doctors, researchs, and experts related to Johanson-blizzard Syndrome extracted from public data.

Johanson-blizzard Syndrome Experts map



Current Researchs and researchers

  • TORONTO — Dr Mei ZHEN

    Investigator of research project

    • Institution/s:
      — Mount Sinai Hospital
    • Research area/topic::

      Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model


  • MAGDEBURG — Pr Martin ZENKER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network - Director of department

    • Institution/s:
      — Universitätsklinikum Magdeburg A.ö.R
      — Universitätsklinikum Magdeburg A.ö.R
    • Research area/topic::

      Functional characterisation of UBR1 gene in the pathogenesis of Johanson-Blizzard syndrome with special focus on pancreatic insufficiency (DFG)



Mendelian

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Johanson-blizzard Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Pancreas Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SPINK1, CASR, UBR1, CEL, CFTR, SBDS, CLDN2, CPA1, CTRC, PRSS1
Specificity
10 %
Genes
100 %
Pancreatic Insufficiency Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

UBR1, CEL, CFTR, SBDS
Specificity
25 %
Genes
100 %
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
UBR1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

UBR1
Specificity
100 %
Genes
100 %
Johanson-Blizzard syndrome (sequence analysis of UBR1 gene).

By CGC Genetics (Portugal).

UBR1
Specificity
100 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA 2; THC2 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO OPITZ GBBB SYNDROME, TYPE II; GBBB2 MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO DEAFNESS, AUTOSOMAL DOMINANT 4B; DFNA4B CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN

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