MCID: JHN001
MIFTS: 46

Johanson-Blizzard Syndrome malady

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

Aliases & Classifications for Johanson-Blizzard Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 52 11 48 24 54 70 27 12 13 68
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 48 24
Jbs 48 70
 
Jacobsen Distal 11q Deletion Syndrome 68
Johanson Blizzard Syndrome 39

Characteristics:

Orphanet epidemiological data:

54
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth

HPO:

64
johanson-blizzard syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM52 243800
Disease Ontology11 DOID:14694
MeSH39 C535880
Orphanet54 ORPHA2315
SNOMED-CT62 75979009
ICD10 via Orphanet31 Q87.8
MESH via Orphanet40 C535880
UMLS via Orphanet69 C0175692
MedGen37 C0175692

Summaries for Johanson-Blizzard Syndrome

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NIH Rare Diseases:48 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 nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness, is related to aplasia cutis congenita, nonsyndromic and jacobsen syndrome, 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), and among its related pathways are Ubiquitin-Proteasome Dependent Proteolysis and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include pancreas, skin and heart, and related mouse phenotypes are digestive/alimentary and homeostasis/metabolism.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 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:52 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and... (243800) more...

Related Diseases for Johanson-Blizzard Syndrome

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Graphical network of diseases related to Johanson-Blizzard Syndrome:



Diseases related to johanson-blizzard syndrome

Symptoms & Phenotypes for Johanson-Blizzard Syndrome

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Symptoms by clinical synopsis from OMIM:

243800

Clinical features from OMIM:

243800

Human phenotypes related to Johanson-Blizzard Syndrome:

 64 54 (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 underdeveloped nasal alae64 54 hallmark (90%) Very frequent (99-80%) HP:0000430
2 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
3 alopecia64 54 hallmark (90%) Very frequent (99-80%) HP:0001596
4 exocrine pancreatic insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0001738
5 malabsorption64 54 hallmark (90%) Very frequent (99-80%) HP:0002024
6 short nose64 54 hallmark (90%) Very frequent (99-80%) HP:0003196
7 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of female internal genitalia64 typical (50%) HP:0000008
9 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
10 lacrimation abnormality64 54 typical (50%) Frequent (79-30%) HP:0000632
11 delayed eruption of teeth64 54 typical (50%) Frequent (79-30%) HP:0000684
12 microdontia64 54 typical (50%) Frequent (79-30%) HP:0000691
13 anemia64 54 typical (50%) Frequent (79-30%) HP:0001903
14 delayed skeletal maturation64 54 typical (50%) Frequent (79-30%) HP:0002750
15 hypoproteinemia64 54 typical (50%) Frequent (79-30%) HP:0003075
16 reduced number of teeth64 typical (50%) HP:0009804
17 cognitive impairment64 typical (50%) HP:0100543
18 urogenital fistula64 typical (50%) HP:0100589
19 microcephaly64 54 occasional (7.5%) Occasional (29-5%) HP:0000252
20 diabetes mellitus64 54 occasional (7.5%) Occasional (29-5%) HP:0000819
21 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
22 abnormality of the cardiac septa64 54 occasional (7.5%) Occasional (29-5%) HP:0001671
23 situs inversus totalis64 occasional (7.5%) HP:0001696
24 abnormality of the nares64 54 occasional (7.5%) Occasional (29-5%) HP:0005288
25 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
26 abnormality of the upper urinary tract64 occasional (7.5%) HP:0010935
27 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
28 cholestasis64 rare (5%) HP:0001396
29 hepatic failure64 rare (5%) HP:0001399
30 dilated cardiomyopathy64 rare (5%) HP:0001644
31 cryptorchidism64 HP:0000028
32 hypospadias64 54 Occasional (29-5%) HP:0000047
33 micropenis64 HP:0000054
34 clitoral hypertrophy64 HP:0000057
35 hydronephrosis64 54 Occasional (29-5%) HP:0000126
36 rectovaginal fistula64 HP:0000143
37 convex nasal ridge64 HP:0000444
38 strabismus64 HP:0000486
39 hypothyroidism64 HP:0000821
40 single transverse palmar crease64 HP:0000954
41 cafe-au-lait spot64 HP:0000957
42 absent lacrimal punctum64 54 Frequent (79-30%) HP:0001092
43 septate vagina64 HP:0001153
44 intellectual disability64 54 Frequent (79-30%) HP:0001249
45 calvarial skull defect64 HP:0001362
46 joint laxity64 HP:0001388
47 failure to thrive64 54 Very frequent (99-80%) HP:0001508
48 small for gestational age64 HP:0001518
49 anteriorly placed anus64 54 Frequent (79-30%) HP:0001545
50 abnormality of the nail64 HP:0001597
51 ventricular septal defect64 HP:0001629
52 atria septal defect64 HP:0001631
53 anal atresia64 54 Frequent (79-30%) HP:0002023
54 sparse scalp hair64 HP:0002209
55 frontal upsweep of hair64 HP:0002236
56 colonic diverticula64 HP:0002253
57 fair hair64 HP:0002286
58 hypoplastic nipples64 HP:0002557
59 hypocalcemia64 HP:0002901
60 increased circulating very-low-density lipoprotein cholesterol64 HP:0003362
61 clinodactyly of the 5th finger64 HP:0004209
62 midline skin dimples over anterior/posterior fontanelles64 HP:0005498
63 hypoplasia of the primary teeth64 HP:0006334
64 agenesis of permanent teeth64 HP:0006349
65 aplasia cutis congenita of scalp64 HP:0007385
66 urethrovaginal fistula64 HP:0008716
67 anasarca64 HP:0012050
68 abnormality of the vagina54 Frequent (79-30%)
69 abnormality of the teeth54 Very frequent (99-80%)
70 oligodontia54 Frequent (79-30%)
71 edema54 Occasional (29-5%)
72 death in infancy54 Occasional (29-5%)
73 dextrocardia54 Occasional (29-5%)
74 abnormality of the pancreas54 Very frequent (99-80%)
75 malformation of the heart and great vessels54 Occasional (29-5%)
76 abnormality of the female genitalia54 Frequent (79-30%)
77 abnormal hair pattern54 Very frequent (99-80%)

UMLS symptoms related to Johanson-Blizzard Syndrome:


joint laxity, muscle spasticity

MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3CFTR, CLPS, NOTCH1, UBR1
2MP:00053767.6CFTR, CLPS, NOTCH1, PDLIM1, UBR1, UBR2

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 Syndrome27 24 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

36
Pancreas, Skin, Heart, Colon, Bone, Testes, Liver

Publications for Johanson-Blizzard Syndrome

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Articles related to Johanson-Blizzard Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome. (27656521)
2016
2
Oblique facial clefts in Johanson-Blizzard syndrome. (26989884)
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
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. (25076350)
2014
6
Clinical utility gene card for: Johanson-Blizzard syndrome. (23652379)
2014
7
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. (25036160)
2014
8
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. (24052374)
2013
9
Johanson-blizzard syndrome. (23778732)
2013
10
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. (23463671)
2013
11
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
12
Johanson-Blizzard syndrome: dental findings and management. (24172004)
2013
13
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
14
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
15
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
16
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
17
Johanson-Blizzard syndrome. (22072859)
2011
18
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
19
Johanson-Blizzard syndrome. (21180950)
2010
20
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
21
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
2009
22
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
23
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
24
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
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: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
29
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
30
Johanson--blizzard syndrome. (15630323)
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
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
36
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
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
The temporal bone in the Johanson-Blizzard syndrome. A CT study. (1815181)
1991
43
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. (1995274)
1991
44
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
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
Oral findings in Johanson-Blizzard syndrome. (3469344)
1987
50
The Johanson-Blizzard syndrome: a second report of full autopsy findings. (3812553)
1987

Variations for Johanson-Blizzard Syndrome

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

70 (show all 18)
id Symbol AA change Variation ID SNP ID
1UBR1p.His136ArgVAR_024741rs119477054
2UBR1p.Gly1279SerVAR_024742
3UBR1p.Val122LeuVAR_075179
4UBR1p.Cys127PheVAR_075180
5UBR1p.His166ArgVAR_075181
6UBR1p.Leu217ArgVAR_075182
7UBR1p.Ile286ArgVAR_075183
8UBR1p.Leu317ProVAR_075184
9UBR1p.Ala563AspVAR_075187rs768686147
10UBR1p.Ser700ProVAR_075189
11UBR1p.Arg754CysVAR_075190
12UBR1p.Arg754HisVAR_075191
13UBR1p.Gln1102GluVAR_075192
14UBR1p.Arg1242GlyVAR_075193
15UBR1p.Pro1426LeuVAR_075194
16UBR1p.Ser1427PheVAR_075195
17UBR1p.Ser1431ProVAR_075196rs140972409
18UBR1p.Gly1661ArgVAR_075197

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)SNVPathogenicrs797045112GRCh37Chr 15, 43276138: 43276138
2UBR1UBR1, IVS12AS, G-A, -1SNVPathogenicChr na, -1: -1
3UBR1NM_174916.2(UBR1): c.407A> G (p.His136Arg)SNVPathogenicrs119477054GRCh37Chr 15, 43374846: 43374846
4UBR1UBR1, IVS20DS, T-C, +2SNVPathogenicChr na, -1: -1
5UBR1NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter)SNVPathogenicrs119477055GRCh37Chr 15, 43340592: 43340592
6UBR1UBR1, IVS26DS, G-A, +5SNVPathogenicChr na, -1: -1

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

idSuper pathwaysScoreTop Affiliating Genes
19.6UBR1, UBR2
29.3CFTR, NOTCH1

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:00001519.6UBR1, UBR2

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to leucineGO:007123310.1UBR1, UBR2
2negative regulation of TOR signalingGO:00320079.6UBR1, UBR2
3ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:00715969.6UBR1, UBR2

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

idNameGO IDScoreTop Affiliating Genes
1leucine bindingGO:00707289.6UBR1, UBR2

Sources for Johanson-Blizzard Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet