MCID: JHN001
MIFTS: 47

Johanson-Blizzard Syndrome

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

Aliases & Classifications for Johanson-Blizzard Syndrome

MalaCards integrated aliases for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 54 12 50 24 56 71 29 13 14 69
Jbs 50 56 71
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;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



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 bamforth syndrome, and has symptoms including short stature, failure to thrive and microcephaly. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1), and among its related pathways/superpathways is Ubiquitin-Proteasome Dependent Proteolysis. Affiliated tissues include pancreas, skin and bone, and related phenotypes are digestive/alimentary and homeostasis/metabolism

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.

OMIM : 54
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.

Related Diseases for Johanson-Blizzard Syndrome

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

(show all 26)
id Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 11.6
2 bamforth syndrome 11.2
3 aplasia cutis congenita, nonsyndromic 11.2
4 pancreatitis 10.5
5 hypopituitarism 10.2
6 baller-gerold syndrome 10.1 UBR1 UBR2
7 hypoglycemia 10.1
8 urethral obstruction sequence 10.1
9 coffin-lowry syndrome 10.1
10 cardiomyopathy 10.1
11 diamond-blackfan anemia 10.1
12 exocrine pancreatic insufficiency 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 fecal incontinence 10.0 CFTR UBR1
20 atypical polypoid adenomyoma 10.0 CFTR UBR1
21 lichen planus 9.8
22 oral lichen planus 9.8
23 central cord syndrome 9.8
24 adams-oliver syndrome 5 9.6 NOTCH1 PDLIM1
25 craniosynostosis 7 9.4 NOTCH1 PDLIM1
26 pulmonary venoocclusive disease 2 7.2 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 via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

Head And Neck- Eyes:
strabismus
cutaneolacrimal fistulae
lacrimal puncta aplasia

Genitourinary- External Genitalia Male:
micropenis
hypospadias

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

Genitourinary- External Genitalia Female:
clitoromegaly

Skeletal- Hands:
fifth finger clinodactyly
transverse palmar crease

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

Abdomen- Gastroin testinal:
imperforate anus
anteriorly placed anus

Head And Neck- Nose:
beaked nose
hypoplastic alae nasi

Abdomen- Pancreas:
exocrine pancreatic insufficiency

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

Growth- Other:
failure to thrive

Skeletal:
delayed bone age
joint laxity

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

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

Genitourinary- Kidneys:
hydronephrosis
calicectasis

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Weight:
low birth weight

Endocrine Features:
diabetes mellitus
hypothyroidism (30% patients)

Laboratory- Abnormalities:
hypocalcemia
low total serum protein

Chest- Breasts:
small nipples
absent areolae

Genitourinary- Internal Genitalia Female:
septate vagina
double vagina
urethrovaginal fistulae

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

Muscle Soft Tissue:
anasarca
edema (hands and feet)


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 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
5 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
6 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
7 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
8 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
9 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
10 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
11 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
12 diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000819
13 edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000969
14 hypoproteinemia 56 32 frequent (33%) Frequent (79-30%) HP:0003075
15 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
16 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
17 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
18 dextrocardia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001651
19 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
20 oligodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000677
21 anal atresia 56 32 frequent (33%) Frequent (79-30%) HP:0002023
22 exocrine pancreatic insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0001738
23 anteriorly placed anus 56 32 frequent (33%) Frequent (79-30%) HP:0001545
24 delayed eruption of teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000684
25 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
26 underdeveloped nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000430
27 lacrimation abnormality 56 32 frequent (33%) Frequent (79-30%) HP:0000632
28 abnormal hair pattern 56 32 hallmark (90%) Very frequent (99-80%) HP:0010720
29 abnormality of the cardiac septa 56 32 occasional (7.5%) Occasional (29-5%) HP:0001671
30 abnormality of the vagina 56 32 frequent (33%) Frequent (79-30%) HP:0000142
31 abnormality of the nares 56 32 occasional (7.5%) Occasional (29-5%) HP:0005288
32 absent lacrimal punctum 56 32 frequent (33%) Frequent (79-30%) HP:0001092
33 sparse scalp hair 32 HP:0002209
34 strabismus 32 HP:0000486
35 micropenis 32 HP:0000054
36 joint laxity 32 HP:0001388
37 atrial septal defect 32 HP:0001631
38 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
39 cryptorchidism 32 HP:0000028
40 ventricular septal defect 32 HP:0001629
41 hepatic failure 32 occasional (7.5%) HP:0001399
42 hypocalcemia 32 HP:0002901
43 cholestasis 32 occasional (7.5%) HP:0001396
44 hypoplastic nipples 32 HP:0002557
45 hypothyroidism 32 HP:0000821
46 small for gestational age 32 HP:0001518
47 death in infancy 56 Occasional (29-5%)
48 clitoral hypertrophy 32 HP:0008665
49 single transverse palmar crease 32 HP:0000954
50 fair hair 32 HP:0002286

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, Bone, Liver, Heart, Colon, Testes

Publications for Johanson-Blizzard Syndrome

Articles related to Johanson-Blizzard Syndrome:

(show top 50) (show all 59)
id Title Authors Year
1
Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome. ( 28576536 )
2017
2
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
3
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome. ( 27656521 )
2016
4
Johanson-Blizzard syndrome presenting as chronic diarrhoea. ( 27522741 )
2015
5
Two novel UBR1 gene mutations A+n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. ( 26149651 )
2015
6
Clinical utility gene card for: Johanson-Blizzard syndrome. ( 23652379 )
2014
7
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. ( 25076350 )
2014
8
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. ( 25036160 )
2014
9
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. ( 23463671 )
2013
10
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. ( 23900243 )
2013
11
Johanson-blizzard syndrome. ( 23778732 )
2013
12
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. ( 24052374 )
2013
13
Johanson-Blizzard syndrome: dental findings and management. ( 24172004 )
2013
14
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. ( 21711208 )
2012
15
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. ( 20556423 )
2011
16
Eponym: Johanson-Blizzard syndrome. ( 20556422 )
2011
17
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. ( 21931868 )
2011
18
Johanson-Blizzard syndrome. ( 22072859 )
2011
19
Johanson-Blizzard syndrome. ( 21180950 )
2010
20
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. ( 20810061 )
2010
21
Ocular manifestations of the Johanson-Blizzard syndrome. ( 19717322 )
2009
22
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. ( 19903636 )
2009
23
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. ( 18553553 )
2008
24
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. ( 19006206 )
2008
25
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. ( 19058315 )
2008
26
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. ( 17378628 )
2007
27
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. ( 16632090 )
2006
28
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). ( 16311597 )
2005
29
Johanson--blizzard syndrome. ( 15630323 )
2004
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
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. ( 12725595 )
2003
33
Perioperative care of the child with the Johanson-Blizzard syndrome. ( 12535044 )
2003
34
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. ( 11922888 )
2002
35
Johanson-Blizzard syndrome. a new case with autopsy findings. ( 11693787 )
2001
36
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. ( 10865022 )
2000
37
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. ( 11154160 )
2000
38
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. ( 10423811 )
1999
39
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). ( 9285390 )
1997
40
Johanson-Blizzard syndrome facial anomaly and its correction using a microsurgical bone graft and tripartite osteotomy. ( 9020718 )
1995
41
Pathophysiology of the pancreatic defect in Johanson-Blizzard syndrome: a disorder of acinar development. ( 8071749 )
1994
42
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. ( 8448911 )
1993
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
The temporal bone in the Johanson-Blizzard syndrome. A CT study. ( 1815181 )
1991
46
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. ( 2185632 )
1990
47
Concurrent pancreatic and growth hormone insufficiency in Johanson-Blizzard syndrome. ( 2621533 )
1989
48
Johanson-Blizzard syndrome. ( 2645405 )
1989
49
Johanson-Blizzard syndrome and hypopituitarism. ( 3183841 )
1988
50
Oral findings in Johanson-Blizzard syndrome. ( 3469344 )
1987

Variations for Johanson-Blizzard Syndrome

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

71 (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 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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