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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NIH Rare Diseases:42 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 based summary: Johanson-Blizzard Syndrome, also known as johanson blizzard syndrome, is related to pancreatitis and diabetes mellitus, and has symptoms including short/small nose, thin/hypoplastic ala nasi and anomalies of teeth and dentition. 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:46 243800

Aliases & Classifications for Johanson-Blizzard Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 42NIH Rare Diseases, 22GTR, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Johanson-Blizzard Syndrome, Aliases & Descriptions:

Name: Johanson-Blizzard Syndrome 8 9 46 10 48 62
Johanson Blizzard Syndrome 42 22
 
Jbs 42 62
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:14694
MeSH34 C535880
OMIM46 243800
SNOMED-CT57 75979009
MESH via Orphanet35 C535880
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0175692

Related Diseases for Johanson-Blizzard Syndrome

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



Diseases related to johanson-blizzard syndrome

Symptoms for Johanson-Blizzard Syndrome

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Symptoms by clinical synopsis from OMIM:

243800

Clinical features from OMIM:

243800

Symptoms:

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

HPO human phenotypes related to Johanson-Blizzard Syndrome:

(show all 80)
id Description Frequency HPO Source Accession
1 underdeveloped nasal alae hallmark (90%) HP:0000430
2 intrauterine growth retardation hallmark (90%) HP:0001511
3 alopecia hallmark (90%) HP:0001596
4 exocrine pancreatic insufficiency hallmark (90%) HP:0001738
5 malabsorption hallmark (90%) HP:0002024
6 short nose hallmark (90%) HP:0003196
7 short stature hallmark (90%) HP:0004322
8 abnormality of female internal genitalia typical (50%) HP:0000008
9 sensorineural hearing impairment typical (50%) HP:0000407
10 lacrimation abnormality typical (50%) HP:0000632
11 delayed eruption of teeth typical (50%) HP:0000684
12 microdontia typical (50%) HP:0000691
13 anemia typical (50%) HP:0001903
14 delayed skeletal maturation typical (50%) HP:0002750
15 hypoproteinemia typical (50%) HP:0003075
16 reduced number of teeth typical (50%) HP:0009804
17 cognitive impairment typical (50%) HP:0100543
18 urogenital fistula typical (50%) HP:0100589
19 microcephaly occasional (7.5%) HP:0000252
20 diabetes mellitus occasional (7.5%) HP:0000819
21 edema occasional (7.5%) HP:0000969
22 muscular hypotonia occasional (7.5%) HP:0001252
23 abnormality of the cardiac septa occasional (7.5%) HP:0001671
24 situs inversus totalis occasional (7.5%) HP:0001696
25 abnormality of the nares occasional (7.5%) HP:0005288
26 hypoplasia of penis occasional (7.5%) HP:0008736
27 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
28 displacement of the external urethral meatus occasional (7.5%) HP:0100627
29 cholestasis rare (5%) HP:0001396
30 hepatic failure rare (5%) HP:0001399
31 dilated cardiomyopathy rare (5%) HP:0001644
32 autosomal recessive inheritance HP:0000007
33 cryptorchidism HP:0000028
34 hypospadias HP:0000047
35 micropenis HP:0000054
36 clitoromegaly HP:0000057
37 hydronephrosis HP:0000126
38 rectovaginal fistula HP:0000143
39 microcephaly HP:0000252
40 sensorineural hearing impairment HP:0000407
41 underdeveloped nasal alae HP:0000430
42 convex nasal ridge HP:0000444
43 strabismus HP:0000486
44 diabetes mellitus HP:0000819
45 hypothyroidism HP:0000821
46 single transverse palmar crease HP:0000954
47 cafe-au-lait spot HP:0000957
48 absent lacrimal punctum HP:0001092
49 septate vagina HP:0001153
50 intellectual disability HP:0001249
51 muscular hypotonia HP:0001252
52 skull defect HP:0001362
53 joint laxity HP:0001388
54 failure to thrive HP:0001508
55 intrauterine growth retardation HP:0001511
56 small for gestational age HP:0001518
57 anteriorly placed anus HP:0001545
58 abnormality of the nail HP:0001597
59 ventricular septal defect HP:0001629
60 defect in the atrial septum HP:0001631
61 situs inversus totalis HP:0001696
62 exocrine pancreatic insufficiency HP:0001738
63 anal atresia HP:0002023
64 malabsorption HP:0002024
65 sparse scalp hair HP:0002209
66 frontal upsweep of hair HP:0002236
67 colonic diverticulosis HP:0002253
68 fair hair HP:0002286
69 hypoplastic nipples HP:0002557
70 delayed skeletal maturation HP:0002750
71 hypocalcemia HP:0002901
72 increased circulating very-low-density lipoprotein cholesterol HP:0003362
73 clinodactyly of the 5th finger HP:0004209
74 short stature HP:0004322
75 midline skin dimples over anterior/posterior fontanelles HP:0005498
76 hypoplasia of the primary teeth HP:0006334
77 agenesis of permanent teeth HP:0006349
78 aplasia cutis congenita of scalp HP:0007385
79 urethrovaginal fistula HP:0008716
80 anasarca HP:0012050

Drugs & Therapeutics for Johanson-Blizzard Syndrome

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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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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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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

32
Pancreas, Bone, Heart, Skin, Uterus, Liver, Testes

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7INS, CLPS, UBR1
2MP:00053818.6INS, CLPS, UBR1
3MP:00053698.4INS, UBR2, UBR1
4MP:00053788.1INS, CLPS, UBR2, UBR1
5MP:00107688.1INS, CLPS, UBR2, UBR1
6MP:00053768.0INS, CLPS, UBR1, UBR2

Publications for Johanson-Blizzard Syndrome

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Articles related to Johanson-Blizzard Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. (25076350)
2014
2
Clinical utility gene card for: Johanson-Blizzard syndrome. (23652379)
2014
3
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. (25036160)
2014
4
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
5
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. (24052374)
2013
6
Johanson-blizzard syndrome. (23778732)
2013
7
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. (23463671)
2013
8
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
9
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
10
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
11
Johanson-Blizzard syndrome. (22072859)
2011
12
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
13
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
14
Johanson-Blizzard syndrome. (21180950)
2010
15
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
16
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
2009
17
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
18
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
2008
19
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
20
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. (17378628)
2007
21
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. (16632090)
2006
22
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (16311597)
2005
23
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
24
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
25
Johanson--blizzard syndrome. (15630323)
2004
26
Perioperative care of the child with the Johanson-Blizzard syndrome. (12535044)
2003
27
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. (12725595)
2003
28
Johanson-Blizzard syndrome. a new case with autopsy findings. (11693787)
2001
29
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
2000
30
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
31
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (10423811)
1999
32
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). (9285390)
1997
33
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. (9020718)
1995
34
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. (8071749)
1994
35
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. (8448911)
1993
36
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
1991
37
The temporal bone in the Johanson-Blizzard syndrome. A CT study. (1815181)
1991
38
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. (1995274)
1991
39
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. (2185632)
1990
40
Johanson-Blizzard syndrome. (2645405)
1989
41
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. (2621533)
1989
42
Johanson-Blizzard syndrome and hypopituitarism. (3183841)
1988
43
Oral findings in Johanson-Blizzard syndrome. (3469344)
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

Variations for Johanson-Blizzard Syndrome

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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:

6
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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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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Sources:
44Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Johanson-Blizzard Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phosphoric acid44 2410.5UBR1, UBR2
2Adenosine monophosphate24 1110.2UBR1, UBR2
3orlistat44 61 1111.0CLPS, INS
4triacylglycerol448.9CLPS, INS

GO Terms for genes affiliated with Johanson-Blizzard Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet