MCID: JHN001
MIFTS: 49

Johanson-Blizzard Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Fetal diseases, Ear diseases categories

Aliases & Classifications for Johanson-Blizzard Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 49 10 11 12 51 65 67
Johanson Blizzard Syndrome 45 22 24 36
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 45 22
 
Jbs 45 67
Jacobsen Distal 11q Deletion Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 243800
Disease Ontology10 DOID:14694
MeSH36 C535880
Orphanet51 2315
SNOMED-CT59 75979009
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C535880
UMLS via Orphanet66 C0175692
MedGen34 C0175692

Summaries for Johanson-Blizzard Syndrome

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NIH Rare Diseases:45 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 hypopituitarism, and has symptoms including underdeveloped nasal alae, intrauterine growth retardation and alopecia. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1). Affiliated tissues include pancreas, skin and bone, and related mouse phenotypes are digestive/alimentary and cardiovascular system.

Disease Ontology:10 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.

OMIM:49 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and... (243800) more...

UniProtKB/Swiss-Prot:67 Johanson-Blizzard syndrome: This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis.

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:

 51 (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 muscular hypotonia occasional (7.5%) HP:0001252
22 abnormality of the cardiac septa occasional (7.5%) HP:0001671
23 situs inversus totalis occasional (7.5%) HP:0001696
24 abnormality of the nares occasional (7.5%) HP:0005288
25 hypoplasia of penis occasional (7.5%) HP:0008736
26 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
27 displacement of the external urethral meatus occasional (7.5%) HP:0100627
28 cholestasis rare (5%) HP:0001396
29 hepatic failure rare (5%) HP:0001399
30 dilated cardiomyopathy rare (5%) HP:0001644
31 autosomal recessive inheritance HP:0000007
32 cryptorchidism HP:0000028
33 hypospadias HP:0000047
34 micropenis HP:0000054
35 clitoromegaly HP:0000057
36 hydronephrosis HP:0000126
37 rectovaginal fistula HP:0000143
38 microcephaly HP:0000252
39 sensorineural hearing impairment HP:0000407
40 underdeveloped nasal alae HP:0000430
41 convex nasal ridge HP:0000444
42 strabismus HP:0000486
43 diabetes mellitus HP:0000819
44 hypothyroidism HP:0000821
45 single transverse palmar crease HP:0000954
46 cafe-au-lait spot HP:0000957
47 absent lacrimal punctum HP:0001092
48 septate vagina HP:0001153
49 intellectual disability HP:0001249
50 muscular hypotonia HP:0001252
51 skull defect HP:0001362
52 joint laxity HP:0001388
53 failure to thrive HP:0001508
54 intrauterine growth retardation HP:0001511
55 small for gestational age HP:0001518
56 anteriorly placed anus HP:0001545
57 abnormality of the nail HP:0001597
58 ventricular septal defect HP:0001629
59 atria septal defect HP:0001631
60 situs inversus totalis HP:0001696
61 exocrine pancreatic insufficiency HP:0001738
62 anal atresia HP:0002023
63 malabsorption HP:0002024
64 sparse scalp hair HP:0002209
65 frontal upsweep of hair HP:0002236
66 colonic diverticula HP:0002253
67 fair hair HP:0002286
68 hypoplastic nipples HP:0002557
69 delayed skeletal maturation HP:0002750
70 hypocalcemia HP:0002901
71 increased circulating very-low-density lipoprotein cholesterol HP:0003362
72 death in childhood HP:0003819
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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Johanson-Blizzard Syndrome


Cochrane evidence based reviews: 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 24 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

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

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1CFTR, CLPS, NOTCH1, SBDS, UBR1
2MP:00053858.1NOTCH1, PARK2, SBDS, UBR1, UBR2
3MP:00053797.8CFTR, NOTCH1, SBDS, UBR1, UBR2
4MP:00053847.6CFTR, NOTCH1, PARK2, SBDS, UBR1, UBR2
5MP:00107687.0CFTR, CLPS, NOTCH1, PARK2, SBDS, UBR1
6MP:00053787.0CFTR, CLPS, NOTCH1, PARK2, SBDS, UBR1
7MP:00053766.6CFTR, CLPS, NOTCH1, PARK2, SBDS, UBR1

Publications for Johanson-Blizzard Syndrome

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Articles related to Johanson-Blizzard Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Two novel UBR1 gene mutations A+n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. (26149651)
2015
2
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. (25076350)
2014
3
Clinical utility gene card for: Johanson-Blizzard syndrome. (23652379)
2014
4
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. (25036160)
2014
5
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
6
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. (24052374)
2013
7
Johanson-blizzard syndrome. (23778732)
2013
8
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. (23463671)
2013
9
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
10
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
11
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
12
Johanson-Blizzard syndrome. (22072859)
2011
13
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
14
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
15
Johanson-Blizzard syndrome. (21180950)
2010
16
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
17
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
2009
18
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
19
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
2008
20
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
21
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. (17378628)
2007
22
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. (16632090)
2006
23
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (16311597)
2005
24
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
25
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
26
Johanson--blizzard syndrome. (15630323)
2004
27
Perioperative care of the child with the Johanson-Blizzard syndrome. (12535044)
2003
28
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. (11922888)
2002
29
Johanson-Blizzard syndrome. a new case with autopsy findings. (11693787)
2001
30
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
2000
31
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
32
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (10423811)
1999
33
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). (9285390)
1997
34
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. (9020718)
1995
35
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. (8071749)
1994
36
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. (8448911)
1993
37
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
1991
38
The temporal bone in the Johanson-Blizzard syndrome. A CT study. (1815181)
1991
39
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. (1995274)
1991
40
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. (2185632)
1990
41
Johanson-Blizzard syndrome. (2645405)
1989
42
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. (2621533)
1989
43
Johanson-Blizzard syndrome and hypopituitarism. (3183841)
1988
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:

67
id Symbol AA change Variation ID SNP ID
1UBR1p.His136ArgVAR_024741
2UBR1p.Gly1279SerVAR_024742

Clinvar genetic disease variations for Johanson-Blizzard Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1UBR1NM_174916.2(UBR1): c.4107T> A (p.Cys1369Ter)single nucleotide variantPathogenicrs797045112GRCh37Chr 15, 43276138: 43276138
2UBR1UBR1, IVS12AS, G-A, -1single nucleotide variantPathogenic
3UBR1NM_174916.2(UBR1): c.407A> G (p.His136Arg)single nucleotide variantPathogenicrs119477054GRCh37Chr 15, 43374846: 43374846
4UBR1UBR1, IVS20DS, T-C, +2single nucleotide variantPathogenic
5UBR1NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter)single nucleotide variantPathogenicrs119477055GRCh37Chr 15, 43340592: 43340592
6UBR1UBR1, IVS26DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Johanson-Blizzard Syndrome

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

Pathways for genes affiliated with Johanson-Blizzard Syndrome

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GO Terms for genes affiliated with Johanson-Blizzard Syndrome

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Cellular components related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin ligase complexGO:00001519.2PARK2, UBR1, UBR2

Biological processes related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:003200710.0UBR1, UBR2
2cellular response to leucineGO:007123310.0UBR1, UBR2
3ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:007159610.0UBR1, UBR2
4protein catabolic processGO:00301639.6UBR1, UBR2
5negative regulation of cell deathGO:00605489.1NOTCH1, PARK2

Molecular functions related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1leucine bindingGO:007072810.2UBR1, UBR2
2ubiquitin protein ligase activityGO:00616309.4PARK2, UBR1, UBR2
3ligase activityGO:00168749.4PARK2, UBR1, UBR2
4PDZ domain bindingGO:00301659.3CFTR, PARK2
5enzyme bindingGO:00198998.2CFTR, NOTCH1, PARK2

Sources for Johanson-Blizzard Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet