JBS
MCID: JHN001
MIFTS: 45

Johanson-Blizzard Syndrome (JBS) malady

Neuronal, Skin, Endocrine, Fetal, Ear categories

Summaries for Johanson-Blizzard Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Johanson blizzard syndrome (jbs) is a very rare condition that affects multiple parts of the body. the severity, signs and symptoms of jbs may vary among affected individuals. many symptoms are present at birth or early childhood. characteristic features include intestinal malabsorption of fats and other nutrients due to abnormal development of the pancreas (pancreatic insufficiency); failure to thrive, contributing to short stature; abnormalities of permanent teeth; distinctive skull and facial features; and/or varying degrees of intellectual disability. jbs can be caused by mutations in the ubr1 gene and is inherited in an autosomal recessive manner. last updated: 5/4/2012

MalaCards: Johanson-Blizzard Syndrome, also known as johanson blizzard syndrome, is related to mental retardation and n syndrome, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and failure to thrive/difficulties for feeding in infancy/growth delay. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (ubiquitin protein ligase E3 component n-recognin 1), and among its related pathways is Metabolism. The compounds orlistat and triacylglycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related mouse phenotypes are adipose tissue and homeostasis/metabolism.

Disease Ontology:8 An autosomal recessive disease that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. it is inherited in an autosomal recessive manner.

Description from OMIM:47 243800

Aliases & Classifications for Johanson-Blizzard Syndrome

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 43NIH Rare Diseases, 22GTR, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Skin, Endocrine, Ear


Characteristics (Orphanet epidemiological data):

49
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

johanson-blizzard syndrome 8 9 47 10 49 61
johanson blizzard syndrome 43 22
nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness 43
jacobsen distal 11q deletion syndrome 61
jbs 43


External Ids:

Disease Ontology8 DOID:14694
MeSH35 C535880
OMIM47 243800
MESH via Orphanet36 C535880
SNOMED-CT57 75979009
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 75979009
UMLS via Orphanet62 C0175692

Related Diseases for Johanson-Blizzard Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Johanson-Blizzard Syndrome:



Diseases related to johanson-blizzard syndrome

Clinical Features for Johanson-Blizzard Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

243800

Clinical synopsis from OMIM:

243800

Symptoms:

49 (show all 35)
  • autosomal recessive inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • diabetes mellitus
  • hypotonia
  • delayed bone age
  • short/small nose
  • anomalies of teeth and dentition
  • malabsorption/chronic diarrhea/steatorrhea
  • sensorineural deafness/hearing loss
  • short stature/dwarfism/nanism
  • microcephaly
  • anaemia
  • cutaneous edema
  • congenital cardiac anomaly/malformation/cardiopathy
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • death in infancy
  • complete/partial microdontia
  • structural anomalies of the pancreas
  • thin/hypoplastic ala nasi
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • intrauterine growth retardation
  • micropenis/small penis/agenesis
  • cardiac septal defect
  • uterine/uterus/fallopian tubes anomalies
  • defect/anomaly of lacrimal system
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • hypospadias/epispadias/bent penis
  • anodontia/oligodontia/hypodontia
  • abnormal implantation of hair
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • alopecia
  • small/triangular nares/nostrils
  • hypoproteinemia
  • pancreatic failure/exocrine pancreas disease

Drugs & Therapeutics for Johanson-Blizzard Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Johanson-Blizzard Syndrome

Drug clinical trials:

Search ClinicalTrials for Johanson-Blizzard Syndrome

Search NIH Clinical Center for Johanson-Blizzard Syndrome

Search CenterWatch for Johanson-Blizzard Syndrome

Genetic Tests for Johanson-Blizzard Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Johanson-Blizzard Syndrome:

id Genetic test Affiliating Genes
1 Johanson-blizzard Syndrome22

Anatomical Context for Johanson-Blizzard Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

33
Liver, Heart, Pancreas

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7INS, CLPS, UBR1
2MP:00053767.7ADH5, INS, CLPS, UBR2, UBR1

Publications for Johanson-Blizzard Syndrome

Sources:
51PubMed
See all sources

Articles related to Johanson-Blizzard Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Clinical utility gene card for: Johanson-Blizzard syndrome. (23652379)
2014
2
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
3
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. (24052374)
2013
4
Johanson-blizzard syndrome. (23778732)
2013
5
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. (23463671)
2013
6
Johanson-Blizzard syndrome: dental findings and management. (24172004)
2013
7
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
8
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
9
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
10
Johanson-Blizzard syndrome. (22072859)
2011
11
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
12
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
13
Johanson-Blizzard syndrome. (21180950)
2010
14
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
15
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
16
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
2008
17
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
18
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. (17378628)
2007
19
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. (16632090)
2006
20
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (16311597)
2005
21
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
22
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
23
Johanson--blizzard syndrome. (15630323)
2004
24
Perioperative care of the child with the Johanson-Blizzard syndrome. (12535044)
2003
25
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. (12725595)
2003
26
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. (11922888)
2002
27
Johanson-Blizzard syndrome. a new case with autopsy findings. (11693787)
2001
28
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
2000
29
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
30
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (10423811)
1999
31
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). (9285390)
1997
32
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. (9020718)
1995
33
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. (8071749)
1994
34
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. (8448911)
1993
35
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
1991
36
The temporal bone in the Johanson-Blizzard syndrome. A CT study. (1815181)
1991
37
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. (1995274)
1991
38
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. (2185632)
1990
39
Johanson-Blizzard syndrome. (2645405)
1989
40
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. (2621533)
1989
41
Johanson-Blizzard syndrome and hypopituitarism. (3183841)
1988
42
Oral findings in Johanson-Blizzard syndrome. (3469344)
1987
43
The Johanson-Blizzard syndrome: a second report of full autopsy findings. (3812553)
1987
44
The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. (3536218)
1986
45
Johanson-Blizzard syndrome with normal intelligence. (4050852)
1985
46
The Johanson-Blizzard syndrome. (7120319)
1982
47
The Johanson-Blizzard syndrome: case report and autopsy findings. (474625)
1979
48
Johanson-Blizzard syndrome in a large inbred kindred with three involved members. (709902)
1978
49
Johanson--Blizzard syndrome. (728568)
1978
50
Surgical correction of the absent nasal alae of the Johanson-Blizzard syndrome. (1273129)
1976

Genetic Variations for Johanson-Blizzard Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Johanson-Blizzard Syndrome:

63
id Symbol AA change Variation SNP ID
1UBR1p.His136ArgVAR_024741
2UBR1p.Gly1279SerVAR_024742

Expression for genes affiliated with Johanson-Blizzard Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Johanson-Blizzard Syndrome

Search GEO for disease gene expression data for Johanson-Blizzard Syndrome.

Pathways for genes affiliated with Johanson-Blizzard Syndrome

Sources:
54Reactome, 30KEGG
See all sources

Pathways related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.9ADH5, INS, CLPS

Compounds for genes affiliated with Johanson-Blizzard Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1orlistat45 60 1111.4INS, CLPS
2triacylglycerol459.4INS, CLPS
3starch459.2ADH5, INS
4fatty acid458.6ADH5, INS, CLPS

GO Terms for genes affiliated with Johanson-Blizzard Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin ligase complexGO:0001519.3UBR2, UBR1

Biological processes related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retinoid metabolic processGO:0015239.5ADH5, CLPS
2cellular response to leucineGO:0712339.2UBR2, UBR1
3negative regulation of TOR signaling cascadeGO:0320079.0UBR2, UBR1

Molecular functions related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1leucine bindingGO:0707289.0UBR2, UBR1
2zinc ion bindingGO:0082708.2ADH5, PDLIM1, UBR2, UBR1

Products for genes affiliated with Johanson-Blizzard Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Johanson-Blizzard Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet