JBS
MCID: JHN001
MIFTS: 53

Johanson-Blizzard Syndrome (JBS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Fetal diseases, Ear diseases categories
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Summaries for Johanson-Blizzard Syndrome

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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 pancreatitis and diabetes mellitus, and has symptoms including congenital cardiac anomaly/malformation/cardiopathy, dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus and cutaneous edema. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (ubiquitin protein ligase E3 component n-recognin 1). The compounds phosphoric acid and Adenosine monophosphate have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and heart, and related mouse phenotypes are adipose tissue and digestive/alimentary.

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

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
johanson blizzard syndrome 43 22
nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness 43
jacobsen distal 11q deletion syndrome 62
jbs 43


External Ids:

Disease Ontology8 DOID:14694
OMIM47 243800
MeSH35 C535880
MESH via Orphanet36 C535880
SNOMED-CT58 75979009
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 75979009
UMLS via Orphanet63 C0175692

Related Diseases for Johanson-Blizzard Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Johanson-Blizzard Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.0CLPS, INS
2diabetes mellitus10.5
3hypopituitarism10.5
4jacobsen syndrome10.4
5urethritis10.3
6diamond-blackfan anemia10.3
7hypoglycemia10.3
8pancytopenia10.3
9coffin-lowry syndrome10.3
10stickler syndrome10.3
11congenital heart disease10.3
12hepatitis10.3
13urethral obstruction10.3
14vitamin b12 deficiency10.3
15circumscribed cutaneous aplasia of the vertex10.3
16urethral obstruction sequence10.3
17mental retardation10.3
18insulin resistance10.3
19central cord syndrome10.1
20rapadilino syndrome10.0UBR1, UBR2

Graphical network of diseases related to Johanson-Blizzard Syndrome:



Diseases related to johanson-blizzard syndrome

Symptoms for Johanson-Blizzard Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

243800

Clinical features from OMIM:

243800

Symptoms:

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

Drugs & Therapeutics for Johanson-Blizzard Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Johanson-Blizzard Syndrome

Search NIH Clinical Center for Johanson-Blizzard Syndrome

Genetic Tests for Johanson-Blizzard Syndrome

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22GTR
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Genetic tests related to Johanson-Blizzard Syndrome:

id Genetic test Affiliating Genes
1 Johanson-Blizzard Syndrome22

Anatomical Context for Johanson-Blizzard Syndrome

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

33
Pancreas, Bone, Heart, Uterus, Skin, Liver, Testes

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7UBR1, CLPS, INS
2MP:00053818.6UBR1, CLPS, INS
3MP:00053698.4UBR1, UBR2, INS
4MP:00053788.1INS, CLPS, UBR2, UBR1
5MP:00107688.1UBR1, UBR2, CLPS, INS
6MP:00053768.0INS, CLPS, UBR2, UBR1

Publications for Johanson-Blizzard Syndrome

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52PubMed
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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
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
7
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
8
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
9
Johanson-Blizzard syndrome. (22072859)
2011
10
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
11
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
12
Johanson-Blizzard syndrome. (21180950)
2010
13
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
14
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
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: report of a new case with special reference to the dentition and review of the literature. (3536218)
1986
44
Johanson-Blizzard syndrome with normal intelligence. (4050852)
1985
45
The Johanson-Blizzard syndrome. (7120319)
1982
46
Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome. (7341643)
1981
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

Variations for Johanson-Blizzard Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Johanson-Blizzard Syndrome:

64
id Symbol AA change Variation ID SNP ID
1UBR1p.His136ArgVAR_024741
2UBR1p.Gly1279SerVAR_024742

Clinvar genetic disease variations for Johanson-Blizzard Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1UBR1UBR1, IVS12AS, G-A, -1single nucleotide variantPathogenic
2UBR1NM_174916.2(UBR1): c.407A> G (p.His136Arg)single nucleotide variantPathogenicrs119477054GRCh37Chr 15, 43374846: 43374846
3UBR1UBR1, IVS20DS, T-C, +2single nucleotide variantPathogenic
4UBR1NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter)single nucleotide variantPathogenicrs119477055GRCh37Chr 15, 43340592: 43340592
5UBR1UBR1, IVS26DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Johanson-Blizzard Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Johanson-Blizzard Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphoric acid45 2410.5UBR1, UBR2
2Adenosine monophosphate24 1110.2UBR1, UBR2
3orlistat45 61 1111.0CLPS, INS
4triacylglycerol458.9CLPS, INS

GO Terms for genes affiliated with Johanson-Blizzard Syndrome

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16Gene Ontology
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Cellular components related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin ligase complexGO:0001519.5UBR1, UBR2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-dependent protein catabolic processGO:0065119.5UBR1, UBR2
2cellular response to leucineGO:0712339.4UBR1, UBR2
3negative regulation of TOR signalingGO:0320079.2UBR1, UBR2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein ligase activityGO:0048429.5UBR1, UBR2
2leucine bindingGO:0707289.2UBR1, UBR2

Products for genes affiliated with Johanson-Blizzard Syndrome

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Sources for Johanson-Blizzard Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet