Johanson Blizzard syndrome

A hereditary autosomal recessive disorder characterized by poor growth, intellectual disability, and variable dysmorphic features, including nasal alae abnormalities, abnormal hair patterns or scalp defects, ANODNOTIA. Affected individuals may also have hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency. Mutations in the UBR1 gene have been identified. OMIM: 243800

Also Known As:

Networked: 25 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Shwachman-Diamond Syndrome
2.	Cystic Fibrosis (Mucoviscidosis)
3.	Pancreatitis
4.	Aicardi Syndrome
5.	Chronic Pancreatitis

Experts

1.	Zenker, Martin: 5 articles (11/2017 - 12/2005)
2.	Rezaei, Nima: 3 articles (11/2017 - 02/2011)
3.	Sukalo, Maja: 2 articles (11/2017 - 01/2011)
4.	Takahashi, Tsutomu: 2 articles (11/2017 - 08/2004)
5.	Sabbaghian, Mozhgan: 2 articles (02/2011 - 02/2011)
6.	Mayerle, Julia: 2 articles (01/2011 - 12/2005)
7.	Varshavsky, Alexander: 2 articles (01/2011 - 12/2005)
8.	Alwadee, Rawan M: 1 article (11/2021)
9.	Alyousef, Mohammed Y: 1 article (11/2021)
10.	Yousef, Einas M: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Johanson Blizzard syndrome:

1.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2011 - "Molecular studies revealed a novel homozygous nonsense mutation in exon 38 of the UBR1 gene, which confirmed the diagnosis of Johanson-Blizzard syndrome. "
2.	EnzymesIBA 10/26/2020 - "The human enzyme is found mutated in patients with Johanson-Blizzard syndrome. " 09/01/1996 - "Examples of rarer, inherited causes of pancreatic dysfunction include Shwachman-Diamond syndrome, Johanson-Blizzard syndrome, Pearson's syndrome, pancreatic agenesis, and isolated enzyme deficiencies. " 09/01/2016 - "The UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. "
3.	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 02/01/2011 - "Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. " 09/01/2016 - "The UBR1 gene encodes the enzyme ubiquitin-protein ligase E3 component n-recognin 1. Loss-of-function mutations in the UBR1 gene cause Johanson-Blizzard syndrome, which involves pancreatic exocrine insufficiency. "
4.	UbiquitinIBA 01/01/2011 - "Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome." 12/01/2005 - "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)."
5.	Ligases (Synthetase)IBA 01/01/2011 - "Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome." 12/01/2005 - "Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)."
6.	Insulin (Novolin)FDA Link 11/01/2000 - "Pancreatic exocrine insufficiency in Johanson-Blizzard syndrome (JBS) is well described but only two previous patient reports document pancreatic endocrine insufficiency manifested as diabetes mellitus, and each patient required only a modest dose of insulin to control hyperglycemia. " 08/01/2004 - "Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia."
7.	Glutamic Acid (Glutamate)FDA Link 11/06/2023 - "We propose that elevated glutamate in ubr-1 mutants, being the cause of the E/I shift, potentially contributes to Johanson Blizzard syndrome."
8.	DiamondIBA 04/01/2012 - "Shwachman-Diamond and Johanson Blizzard syndrome are rare pancreatic disorders, characterized by exocrine pancreatic insufficiency in addition to other phenotypic features. "
9.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 10/01/2013 - "Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome."
10.	SteroidsIBA 09/01/1998 - "At CT, pancreatic abnormalities may manifest as pancreatic enlargement (tumor, acute pancreatitis), pancreatic atrophy (cystic fibrosis, chronic pancreatitis), cystic lesions (pseudocysts, congenital simple cysts, autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, cystic fibrosis, cystic neoplasms), or fatty replacement (cystic fibrosis, Shwachman-Diamond syndrome, history of steroid therapy, Cushing syndrome, Johanson-Blizzard syndrome, obesity). "

Therapies and Procedures

1.	Cochlear Implantation 11/01/2021 - "Performance of Children With Johanson-Blizzard Syndrome After Cochlear Implantation." 04/01/2017 - "Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome." 01/01/2014 - "[Johanson-Blizzard syndrome: audiological features and results of cochlear implantation]."
2.	Perioperative Care 01/01/2003 - "Perioperative care of the child with the Johanson-Blizzard syndrome."
3.	Therapeutics 09/01/1998 - "At CT, pancreatic abnormalities may manifest as pancreatic enlargement (tumor, acute pancreatitis), pancreatic atrophy (cystic fibrosis, chronic pancreatitis), cystic lesions (pseudocysts, congenital simple cysts, autosomal dominant polycystic kidney disease, von Hippel-Lindau disease, cystic fibrosis, cystic neoplasms), or fatty replacement (cystic fibrosis, Shwachman-Diamond syndrome, history of steroid therapy, Cushing syndrome, Johanson-Blizzard syndrome, obesity). "
4.	Osteotomy 09/01/1995 - "Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy."
5.	Ligation 11/01/2017 - "Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis."