MCID: JHN001
MIFTS: 48

Johanson-Blizzard Syndrome

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

Aliases & Classifications for Johanson-Blizzard Syndrome

MalaCards integrated aliases for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 53 12 49 55 71 36 28 13 14 69
Jbs 53 49 55 71
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness 53
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 49
Johanson Blizzard Syndrome 41

Characteristics:

Orphanet epidemiological data:

55
johanson-blizzard syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood secondary to malabsorption
incidence of 1 in 250,000 births


HPO:

31
johanson-blizzard syndrome:
Mortality/Aging death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Johanson-Blizzard Syndrome

NIH Rare Diseases : 49 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 pancreatitis and exocrine pancreatic insufficiency, 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 SMAD Signaling Network and Ubiquitin-Proteasome Dependent Proteolysis. Affiliated tissues include pancreas, skin and bone.

OMIM : 53 Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008). (243800)

UniProtKB/Swiss-Prot : 71 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.

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 27)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 30.3 CFTR UBR1
2 exocrine pancreatic insufficiency 29.9 CFTR UBR1
3 jacobsen syndrome 11.8
4 aplasia cutis congenita, nonsyndromic 11.3
5 bamforth syndrome 11.3
6 diabetes mellitus 10.3
7 hypopituitarism 10.3
8 craniosynostosis with fibular aplasia 10.1
9 coffin-lowry syndrome 10.1
10 aging 10.1
11 facial clefting, oblique, 1 10.1
12 diamond-blackfan anemia 10.1
13 hepatitis 10.1
14 vitamin b12 deficiency 10.1
15 stickler syndrome 10.1
16 heart disease 10.1
17 pancytopenia 10.1
18 urethritis 10.1
19 hypoglycemia 10.1
20 oculomaxillofacial dysostosis 10.1
21 urethral obstruction sequence 10.1
22 rapadilino syndrome 10.0 UBR1 UBR2
23 cholecystitis 9.9
24 lichen planus 9.9
25 oral lichen planus 9.9
26 central cord syndrome 9.9
27 oligospermia 9.7 CFTR UBR2

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 via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
delayed bone age

Growth Other:
failure to thrive

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Pancreas:
exocrine pancreatic insufficiency

Laboratory Abnormalities:
hypocalcemia
low total serum protein

Genitourinary Kidneys:
hydronephrosis
calicectasis

Genitourinary Internal Genitalia Female:
septate vagina
double vagina
urethrovaginal fistulae

Skeletal Hands:
transverse palmar crease
fifth finger clinodactyly

Neurologic Central Nervous System:
hypotonia
mental retardation (2/3 patients)

Head And Neck Ears:
hearing loss, sensorineural
cystic dilatation of cochlea and vestibulum

Growth Weight:
low birth weight

Abdomen Liver:
liver failure (1 patient)
giant cell hepatocytes (1 patient)
cholestasis (1 patient)
fibrosis (1 patient)

Endocrine Features:
diabetes mellitus
hypothyroidism (30% patients)

Head And Neck Head:
microcephaly
midline skin dimples over anterior/posterior fontanelles

Head And Neck Eyes:
strabismus
cutaneolacrimal fistulae
lacrimal puncta aplasia

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
dilated cardiomyopathy (rare)
situs inversus

Genitourinary External Genitalia Male:
hypospadias
micropenis

Abdomen Gastroin testinal:
anteriorly placed anus
imperforate anus

Genitourinary External Genitalia Female:
clitoromegaly

Muscle Soft Tissue:
anasarca
edema (hands and feet)

Skin Nails Hair Skin:
transverse palmar crease
cafe-au-lait spots
scalp aplasia cutis congenita

Head And Neck Nose:
beaked nose
hypoplastic alae nasi

Chest Breasts:
small nipples
absent areolae

Head And Neck Teeth:
hypoplastic deciduous teeth
absent permanent teeth

Skin Nails Hair Hair:
blonde, sparse scalp hair
frontal upsweep
extension of lateral hairline onto forehead
'unruly' scalp hair


Clinical features from OMIM:

243800

Human phenotypes related to Johanson-Blizzard Syndrome:

55 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 edema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000969
2 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
3 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
4 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
5 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
7 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
8 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
9 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
10 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
11 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
12 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
13 delayed eruption of teeth 55 31 frequent (33%) Frequent (79-30%) HP:0000684
14 microdontia 55 31 frequent (33%) Frequent (79-30%) HP:0000691
15 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
16 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
17 exocrine pancreatic insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0001738
18 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
19 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
20 anal atresia 55 31 frequent (33%) Frequent (79-30%) HP:0002023
21 lacrimation abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0000632
22 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
23 abnormal hair pattern 55 31 hallmark (90%) Very frequent (99-80%) HP:0010720
24 abnormality of the vagina 55 31 frequent (33%) Frequent (79-30%) HP:0000142
25 anteriorly placed anus 55 31 frequent (33%) Frequent (79-30%) HP:0001545
26 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
27 dextrocardia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001651
28 abnormality of the nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0005288
29 oligodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000677
30 hypoproteinemia 55 31 frequent (33%) Frequent (79-30%) HP:0003075
31 absent lacrimal punctum 55 31 frequent (33%) Frequent (79-30%) HP:0001092
32 joint laxity 31 HP:0001388
33 hypothyroidism 31 HP:0000821
34 abnormality of the dentition 55 Very frequent (99-80%)
35 abnormality of the nail 31 HP:0001597
36 malformation of the heart and great vessels 55 Occasional (29-5%)
37 strabismus 31 HP:0000486
38 death in infancy 55 Occasional (29-5%)
39 cryptorchidism 31 HP:0000028
40 atrial septal defect 31 HP:0001631
41 clinodactyly of the 5th finger 31 HP:0004209
42 abnormality of the pancreas 55 Very frequent (99-80%)
43 ventricular septal defect 31 HP:0001629
44 hypocalcemia 31 HP:0002901
45 cholestasis 31 occasional (7.5%) HP:0001396
46 sparse scalp hair 31 HP:0002209
47 abnormality of the cardiac septa 55 Occasional (29-5%)
48 colonic diverticula 31 HP:0002253
49 convex nasal ridge 31 HP:0000444
50 hepatic failure 31 occasional (7.5%) HP:0001399

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:

# Genetic test Affiliating Genes
1 Johanson-Blizzard Syndrome 28 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

38
Pancreas, Skin, Bone, Liver, Heart, Colon, Testes

Publications for Johanson-Blizzard Syndrome

Articles related to Johanson-Blizzard Syndrome:

(show top 50) (show all 60)
# Title Authors Year
1
Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome. ( 28576536 )
2017
2
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis. ( 29178640 )
2017
3
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
4
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome. ( 27656521 )
2016
5
Two novel UBR1 gene mutations A+n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. ( 26149651 )
2015
6
Johanson-Blizzard syndrome presenting as chronic diarrhoea. ( 27522741 )
2015
7
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. ( 25076350 )
2014
8
Clinical utility gene card for: Johanson-Blizzard syndrome. ( 23652379 )
2014
9
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. ( 25036160 )
2014
10
Johanson-Blizzard syndrome: dental findings and management. ( 24172004 )
2013
11
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. ( 23463671 )
2013
12
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. ( 23900243 )
2013
13
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. ( 24052374 )
2013
14
Johanson-blizzard syndrome. ( 23778732 )
2013
15
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. ( 21711208 )
2012
16
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. ( 21931868 )
2011
17
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. ( 20556423 )
2011
18
Johanson-Blizzard syndrome. ( 22072859 )
2011
19
Eponym: Johanson-Blizzard syndrome. ( 20556422 )
2011
20
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. ( 20810061 )
2010
21
Johanson-Blizzard syndrome. ( 21180950 )
2010
22
Ocular manifestations of the Johanson-Blizzard syndrome. ( 19717322 )
2009
23
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
24
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. ( 18553553 )
2008
25
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. ( 19058315 )
2008
26
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. ( 19006206 )
2008
27
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. ( 17378628 )
2007
28
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. ( 16632090 )
2006
29
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). ( 16311597 )
2005
30
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. ( 15379429 )
2004
31
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. ( 24115882 )
2004
32
Johanson--blizzard syndrome. ( 15630323 )
2004
33
Perioperative care of the child with the Johanson-Blizzard syndrome. ( 12535044 )
2003
34
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. ( 12725595 )
2003
35
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. ( 11922888 )
2002
36
Johanson-Blizzard syndrome. a new case with autopsy findings. ( 11693787 )
2001
37
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. ( 11154160 )
2000
38
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. ( 10865022 )
2000
39
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. ( 10423811 )
1999
40
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). ( 9285390 )
1997
41
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. ( 9020718 )
1995
42
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. ( 8071749 )
1994
43
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. ( 8448911 )
1993
44
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. ( 1995274 )
1991
45
A child of high intelligence with the Johanson-Blizzard syndrome. ( 1741972 )
1991
46
The temporal bone in the Johanson-Blizzard syndrome. A CT study. ( 1815181 )
1991
47
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. ( 2185632 )
1990
48
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. ( 2621533 )
1989
49
Johanson-Blizzard syndrome. ( 2645405 )
1989
50
Johanson-Blizzard syndrome and hypopituitarism. ( 3183841 )
1988

Variations for Johanson-Blizzard Syndrome

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

71 (show all 18)
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 UBR1 UBR1, IVS12AS, G-A, -1 single nucleotide variant Pathogenic
2 UBR1 NM_174916.2(UBR1): c.407A> G (p.His136Arg) single nucleotide variant Pathogenic rs119477054 GRCh37 Chromosome 15, 43374846: 43374846
3 UBR1 UBR1, IVS20DS, T-C, +2 single nucleotide variant Pathogenic
4 UBR1 NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter) single nucleotide variant Pathogenic rs119477055 GRCh37 Chromosome 15, 43340592: 43340592
5 UBR1 UBR1, IVS26DS, G-A, +5 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:

# Super pathways Score Top Affiliating Genes
1 11.04 UBR1 UBR2
2 10.71 UBR1 UBR2
3 10.39 UBR1 UBR2

GO Terms for Johanson-Blizzard Syndrome

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

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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