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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 51 11 47 24 53 69 26 12 13 67
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 47 24
Jbs 47 69
 
Jacobsen Distal 11q Deletion Syndrome 67
Johanson Blizzard Syndrome 38

Characteristics:

Orphanet epidemiological data:

53
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth

HPO:

63
johanson-blizzard syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in childhood

Classifications:



External Ids:

OMIM51 243800
Disease Ontology11 DOID:14694
MeSH38 C535880
Orphanet53 ORPHA2315
SNOMED-CT61 75979009
ICD10 via Orphanet30 Q87.8
MESH via Orphanet39 C535880
UMLS via Orphanet68 C0175692
MedGen36 C0175692

Summaries for Johanson-Blizzard Syndrome

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NIH Rare Diseases:47 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.

OMIM:51 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and... (243800) more...

UniProtKB/Swiss-Prot:69 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 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

Human phenotypes related to Johanson-Blizzard Syndrome:

 63 53 (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 underdeveloped nasal alae63 53 hallmark (90%) Very frequent (99-80%) HP:0000430
2 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
3 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
4 exocrine pancreatic insufficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0001738
5 malabsorption63 53 hallmark (90%) Very frequent (99-80%) HP:0002024
6 short nose63 53 hallmark (90%) Very frequent (99-80%) HP:0003196
7 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
8 abnormality of female internal genitalia63 typical (50%) HP:0000008
9 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
10 lacrimation abnormality63 53 typical (50%) Frequent (79-30%) HP:0000632
11 delayed eruption of teeth63 53 typical (50%) Frequent (79-30%) HP:0000684
12 microdontia63 53 typical (50%) Frequent (79-30%) HP:0000691
13 anemia63 53 typical (50%) Frequent (79-30%) HP:0001903
14 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
15 hypoproteinemia63 53 typical (50%) Frequent (79-30%) HP:0003075
16 reduced number of teeth63 typical (50%) HP:0009804
17 cognitive impairment63 typical (50%) HP:0100543
18 urogenital fistula63 typical (50%) HP:0100589
19 microcephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000252
20 diabetes mellitus63 53 occasional (7.5%) Occasional (29-5%) HP:0000819
21 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
22 abnormality of the cardiac septa63 53 occasional (7.5%) Occasional (29-5%) HP:0001671
23 situs inversus totalis63 occasional (7.5%) HP:0001696
24 abnormality of the nares63 53 occasional (7.5%) Occasional (29-5%) HP:0005288
25 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
26 abnormality of the upper urinary tract63 occasional (7.5%) HP:0010935
27 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
28 cholestasis63 rare (5%) HP:0001396
29 hepatic failure63 rare (5%) HP:0001399
30 dilated cardiomyopathy63 rare (5%) HP:0001644
31 cryptorchidism63 HP:0000028
32 hypospadias63 53 Occasional (29-5%) HP:0000047
33 micropenis63 HP:0000054
34 clitoral hypertrophy63 HP:0000057
35 hydronephrosis63 53 Occasional (29-5%) HP:0000126
36 rectovaginal fistula63 HP:0000143
37 convex nasal ridge63 HP:0000444
38 strabismus63 HP:0000486
39 hypothyroidism63 HP:0000821
40 single transverse palmar crease63 HP:0000954
41 cafe-au-lait spot63 HP:0000957
42 absent lacrimal punctum63 53 Frequent (79-30%) HP:0001092
43 septate vagina63 HP:0001153
44 intellectual disability63 53 Frequent (79-30%) HP:0001249
45 calvarial skull defect63 HP:0001362
46 joint laxity63 HP:0001388
47 failure to thrive63 53 Very frequent (99-80%) HP:0001508
48 small for gestational age63 HP:0001518
49 anteriorly placed anus63 53 Frequent (79-30%) HP:0001545
50 abnormality of the nail63 HP:0001597
51 ventricular septal defect63 HP:0001629
52 atria septal defect63 HP:0001631
53 anal atresia63 53 Frequent (79-30%) HP:0002023
54 sparse scalp hair63 HP:0002209
55 frontal upsweep of hair63 HP:0002236
56 colonic diverticula63 HP:0002253
57 fair hair63 HP:0002286
58 hypoplastic nipples63 HP:0002557
59 hypocalcemia63 HP:0002901
60 increased circulating very-low-density lipoprotein cholesterol63 HP:0003362
61 clinodactyly of the 5th finger63 HP:0004209
62 midline skin dimples over anterior/posterior fontanelles63 HP:0005498
63 hypoplasia of the primary teeth63 HP:0006334
64 agenesis of permanent teeth63 HP:0006349
65 aplasia cutis congenita of scalp63 HP:0007385
66 urethrovaginal fistula63 HP:0008716
67 anasarca63 HP:0012050
68 abnormality of the vagina53 Frequent (79-30%)
69 abnormality of the teeth53 Very frequent (99-80%)
70 oligodontia53 Frequent (79-30%)
71 edema53 Occasional (29-5%)
72 death in infancy53 Occasional (29-5%)
73 dextrocardia53 Occasional (29-5%)
74 abnormality of the pancreas53 Very frequent (99-80%)
75 malformation of the heart and great vessels53 Occasional (29-5%)
76 abnormality of the female genitalia53 Frequent (79-30%)
77 abnormal hair pattern53 Very frequent (99-80%)

UMLS symptoms related to Johanson-Blizzard Syndrome:


joint laxity, muscle spasticity

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 Syndrome26 24 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

35
Pancreas, Skin, Heart, Colon, Bone, Testes, Liver

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.3CFTR, CLPS, NOTCH1, UBR1
2MP:00053767.6CFTR, CLPS, NOTCH1, PDLIM1, UBR1, UBR2

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
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
13
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
14
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
15
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
16
Johanson-Blizzard syndrome. (22072859)
2011
17
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
18
Johanson-Blizzard syndrome. (21180950)
2010
19
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
20
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
2009
21
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
22
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
23
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
2008
24
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. (17378628)
2007
25
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. (16632090)
2006
26
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
27
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
28
Johanson--blizzard syndrome. (15630323)
2004
29
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. (11922888)
2002
30
Johanson-Blizzard syndrome. a new case with autopsy findings. (11693787)
2001
31
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
32
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
2000
33
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (10423811)
1999
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
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
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
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
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. (728568)
1978
49
Johanson-Blizzard syndrome in a large inbred kindred with three involved members. (709902)
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:

69 (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:00712339.8UBR1, UBR2
2ubiquitin-dependent protein catabolic process via the N-end rule pathwayGO:00715969.7UBR1, UBR2
3negative regulation of TOR signalingGO:00320079.6UBR1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet