JBS
MCID: JHN001
MIFTS: 46

Johanson-Blizzard Syndrome (JBS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Johanson-Blizzard Syndrome

Aliases & Descriptions for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 54 12 50 24 56 66 29 13 14 69
Jbs 50 56 66
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 50 24
Johanson Blizzard Syndrome 42

Characteristics:

Orphanet epidemiological data:

56
johanson-blizzard syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth;

HPO:

32
johanson-blizzard syndrome:
Mortality/Aging death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 243800
Disease Ontology 12 DOID:14694
MeSH 42 C535880
SNOMED-CT 64 75979009
Orphanet 56 ORPHA2315
ICD10 via Orphanet 34 Q87.8
MESH via Orphanet 43 C535880
UMLS via Orphanet 70 C0175692
MedGen 40 C0175692
UMLS 69 C0175692

Summaries for Johanson-Blizzard Syndrome

NIH Rare Diseases : 50 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 changes (mutations) in the ubr1 gene and is inherited in an autosomal recessive manner.the treatment focuses on the specific symptoms that are present in each individual and may include pancreatic enzyme supplements (e.g., oral pancreatin) and vitamin supplements. last updated: 11/30/2015

MalaCards based summary : Johanson-Blizzard Syndrome, also known as jbs, is related to jacobsen syndrome and aplasia cutis congenita, nonsyndromic, and has symptoms including edema, diabetes mellitus and intellectual disability. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Ubiquitin-Proteasome Dependent Proteolysis. Affiliated tissues include pancreas, skin and heart, and related phenotypes are digestive/alimentary and homeostasis/metabolism

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and... (243800) more...

Disease Ontology : 12 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.

Related Diseases for Johanson-Blizzard Syndrome

Diseases related to Johanson-Blizzard Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 11.6
2 aplasia cutis congenita, nonsyndromic 11.2
3 pancreatitis 10.5
4 hypopituitarism 10.2
5 exocrine pancreatic insufficiency 10.1
6 hepatitis 10.1
7 vitamin b12 deficiency 10.1
8 stickler syndrome 10.1
9 heart disease 10.1
10 pancytopenia 10.1
11 urethritis 10.1
12 hypoglycemia 10.1
13 urethral obstruction sequence 10.1
14 cardiomyopathy 10.1
15 coffin-lowry syndrome 10.1
16 diamond-blackfan anemia 10.1
17 acrodermatitis enteropathica 10.0 UBR1 UBR2
18 deafness, autosomal recessive 79 9.9 NOTCH1 PDLIM1
19 female stress incontinence 9.9 CFTR UBR1
20 lichen planus 9.8
21 oral lichen planus 9.8
22 central cord syndrome 9.8
23 pulmonary venoocclusive disease 2 8.9 CFTR CLPS NOTCH1 PDLIM1 PRAC1 UBR1

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



Diseases related to Johanson-Blizzard Syndrome

Symptoms & Phenotypes for Johanson-Blizzard Syndrome

Symptoms by clinical synopsis from OMIM:

243800

Clinical features from OMIM:

243800

Human phenotypes related to Johanson-Blizzard Syndrome:

56 32 (show top 50) (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 56 32 Occasional (29-5%) HP:0000969
2 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
3 intellectual disability 56 32 Frequent (79-30%) HP:0001249
4 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
5 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
6 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
7 malabsorption 56 32 Very frequent (99-80%) HP:0002024
8 short nose 56 32 Very frequent (99-80%) HP:0003196
9 microcephaly 56 32 Occasional (29-5%) HP:0000252
10 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
11 short stature 56 32 Very frequent (99-80%) HP:0004322
12 anemia 56 32 Frequent (79-30%) HP:0001903
13 delayed eruption of teeth 56 32 Frequent (79-30%) HP:0000684
14 microdontia 56 32 Frequent (79-30%) HP:0000691
15 exocrine pancreatic insufficiency 56 32 Very frequent (99-80%) HP:0001738
16 underdeveloped nasal alae 56 32 Very frequent (99-80%) HP:0000430
17 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
18 hypospadias 56 32 Occasional (29-5%) HP:0000047
19 anal atresia 56 32 Frequent (79-30%) HP:0002023
20 lacrimation abnormality 56 32 Frequent (79-30%) HP:0000632
21 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
22 abnormal hair pattern 56 32 Very frequent (99-80%) HP:0010720
23 alopecia 56 32 Very frequent (99-80%) HP:0001596
24 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
25 abnormality of the vagina 56 32 Frequent (79-30%) HP:0000142
26 anteriorly placed anus 56 32 Frequent (79-30%) HP:0001545
27 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
28 dextrocardia 56 32 Occasional (29-5%) HP:0001651
29 abnormality of the nares 56 32 Occasional (29-5%) HP:0005288
30 oligodontia 56 32 Frequent (79-30%) HP:0000677
31 hypoproteinemia 56 32 Frequent (79-30%) HP:0003075
32 absent lacrimal punctum 56 32 Frequent (79-30%) HP:0001092
33 joint laxity 32 HP:0001388
34 hypothyroidism 32 HP:0000821
35 abnormality of the teeth 56 Very frequent (99-80%)
36 abnormality of the nail 32 HP:0001597
37 malformation of the heart and great vessels 56 Occasional (29-5%)
38 strabismus 32 HP:0000486
39 death in infancy 56 Occasional (29-5%)
40 cryptorchidism 32 HP:0000028
41 clinodactyly of the 5th finger 32 HP:0004209
42 abnormality of the pancreas 56 Very frequent (99-80%)
43 ventricular septal defect 32 HP:0001629
44 hypocalcemia 32 HP:0002901
45 cholestasis 32 HP:0001396
46 sparse scalp hair 32 HP:0002209
47 convex nasal ridge 32 HP:0000444
48 hepatic failure 32 HP:0001399
49 rectovaginal fistula 32 HP:0000143
50 situs inversus totalis 32 HP:0001696

UMLS symptoms related to Johanson-Blizzard Syndrome:


joint laxity

MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.26 CFTR CLPS NOTCH1 UBR1
2 homeostasis/metabolism MP:0005376 9.1 CFTR CLPS NOTCH1 PDLIM1 UBR1 UBR2

Drugs & Therapeutics for Johanson-Blizzard Syndrome

Search Clinical Trials , NIH Clinical Center for Johanson-Blizzard Syndrome

Cochrane evidence based reviews: johanson blizzard syndrome

Genetic Tests for Johanson-Blizzard Syndrome

Genetic tests related to Johanson-Blizzard Syndrome:

id Genetic test Affiliating Genes
1 Johanson-Blizzard Syndrome 29 24 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

39
Pancreas, Skin, Heart, Colon, Bone, Testes, Liver

Publications for Johanson-Blizzard Syndrome

Articles related to Johanson-Blizzard Syndrome:

(show top 50) (show all 58)
id Title Authors Year
1
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
2
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome. ( 27656521 )
2016
3
Two novel UBR1 gene mutations A+n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. ( 26149651 )
2015
4
Johanson-Blizzard syndrome presenting as chronic diarrhoea. ( 27522741 )
2015
5
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. ( 25036160 )
2014
6
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. ( 25076350 )
2014
7
Clinical utility gene card for: Johanson-Blizzard syndrome. ( 23652379 )
2014
8
Johanson-blizzard syndrome. ( 23778732 )
2013
9
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. ( 23900243 )
2013
10
Johanson-Blizzard syndrome: dental findings and management. ( 24172004 )
2013
11
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. ( 23463671 )
2013
12
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. ( 24052374 )
2013
13
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. ( 21711208 )
2012
14
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. ( 20556423 )
2011
15
Johanson-Blizzard syndrome. ( 22072859 )
2011
16
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. ( 21931868 )
2011
17
Eponym: Johanson-Blizzard syndrome. ( 20556422 )
2011
18
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. ( 20810061 )
2010
19
Johanson-Blizzard syndrome. ( 21180950 )
2010
20
Ocular manifestations of the Johanson-Blizzard syndrome. ( 19717322 )
2009
21
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
22
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. ( 19006206 )
2008
23
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. ( 19058315 )
2008
24
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. ( 18553553 )
2008
25
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. ( 17378628 )
2007
26
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. ( 16632090 )
2006
27
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). ( 16311597 )
2005
28
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. ( 24115882 )
2004
29
Johanson--blizzard syndrome. ( 15630323 )
2004
30
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. ( 15379429 )
2004
31
Perioperative care of the child with the Johanson-Blizzard syndrome. ( 12535044 )
2003
32
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. ( 12725595 )
2003
33
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. ( 11922888 )
2002
34
Johanson-Blizzard syndrome. a new case with autopsy findings. ( 11693787 )
2001
35
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. ( 11154160 )
2000
36
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. ( 10865022 )
2000
37
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. ( 10423811 )
1999
38
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). ( 9285390 )
1997
39
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. ( 9020718 )
1995
40
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. ( 8071749 )
1994
41
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. ( 8448911 )
1993
42
A child of high intelligence with the Johanson-Blizzard syndrome. ( 1741972 )
1991
43
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. ( 1995274 )
1991
44
The temporal bone in the Johanson-Blizzard syndrome. A CT study. ( 1815181 )
1991
45
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. ( 2185632 )
1990
46
Johanson-Blizzard syndrome. ( 2645405 )
1989
47
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. ( 2621533 )
1989
48
Johanson-Blizzard syndrome and hypopituitarism. ( 3183841 )
1988
49
The Johanson-Blizzard syndrome: a second report of full autopsy findings. ( 3812553 )
1987
50
Oral findings in Johanson-Blizzard syndrome. ( 3469344 )
1987

Variations for Johanson-Blizzard Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Johanson-Blizzard Syndrome:

66 (show all 18)
id Symbol AA change Variation ID SNP ID
1 UBR1 p.His136Arg VAR_024741 rs119477054
2 UBR1 p.Gly1279Ser VAR_024742
3 UBR1 p.Val122Leu VAR_075179
4 UBR1 p.Cys127Phe VAR_075180
5 UBR1 p.His166Arg VAR_075181
6 UBR1 p.Leu217Arg VAR_075182
7 UBR1 p.Ile286Arg VAR_075183
8 UBR1 p.Leu317Pro VAR_075184
9 UBR1 p.Ala563Asp VAR_075187 rs768686147
10 UBR1 p.Ser700Pro VAR_075189
11 UBR1 p.Arg754Cys VAR_075190
12 UBR1 p.Arg754His VAR_075191
13 UBR1 p.Gln1102Glu VAR_075192
14 UBR1 p.Arg1242Gly VAR_075193
15 UBR1 p.Pro1426Leu VAR_075194
16 UBR1 p.Ser1427Phe VAR_075195
17 UBR1 p.Ser1431Pro VAR_075196 rs140972409
18 UBR1 p.Gly1661Arg VAR_075197

ClinVar genetic disease variations for Johanson-Blizzard Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UBR1 NM_174916.2(UBR1): c.407A> G (p.His136Arg) single nucleotide variant Pathogenic rs119477054 GRCh37 Chromosome 15, 43374846: 43374846
2 UBR1 UBR1, IVS20DS, T-C, +2 single nucleotide variant Pathogenic
3 UBR1 NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter) single nucleotide variant Pathogenic rs119477055 GRCh37 Chromosome 15, 43340592: 43340592
4 UBR1 UBR1, IVS26DS, G-A, +5 single nucleotide variant Pathogenic
5 UBR1 UBR1, IVS12AS, G-A, -1 single nucleotide variant Pathogenic
6 UBR1 NM_174916.2(UBR1): c.4107T> A (p.Cys1369Ter) single nucleotide variant Pathogenic rs797045112 GRCh37 Chromosome 15, 43276138: 43276138

Expression for Johanson-Blizzard Syndrome

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

Pathways for Johanson-Blizzard Syndrome

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

id Super pathways Score Top Affiliating Genes
1 11.08 CFTR NOTCH1
2 10.71 UBR1 UBR2

GO Terms for Johanson-Blizzard Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin ligase complex GO:0000151 8.62 UBR1 UBR2

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

id Name GO ID Score Top Affiliating Genes
1 protein catabolic process GO:0030163 9.26 UBR1 UBR2
2 negative regulation of TOR signaling GO:0032007 9.16 UBR1 UBR2
3 cellular response to leucine GO:0071233 8.96 UBR1 UBR2
4 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 8.62 UBR1 UBR2

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

id Name GO ID Score Top Affiliating Genes
1 leucine binding GO:0070728 8.62 UBR1 UBR2

Sources for Johanson-Blizzard Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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