Johanson-blizzard Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Johanson-blizzard Syndrome

UBR1

View recommended genes panels

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)

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 Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 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 Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 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 Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 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 %