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JBS
MCID: JHN001
MIFTS: 52

Johanson-Blizzard Syndrome (JBS)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Johanson-Blizzard Syndrome

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MalaCards integrated aliases for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 57 12 73 20 58 72 36 29 13 6 15 39 70
Jbs 57 12 20 58 72
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness 57
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 20
Johanson Blizzard Syndrome 44

Characteristics:

Orphanet epidemiological data:

58
johanson-blizzard syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: infantile,stillbirth;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
johanson-blizzard syndrome:
Onset and clinical course death in infancy death in childhood
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Johanson-Blizzard Syndrome

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GARD : 20 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.

MalaCards based summary : Johanson-Blizzard Syndrome, also known as jbs, is related to jacobsen syndrome and aplasia cutis congenita, nonsyndromic. 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 Organelle biogenesis and maintenance and Ubiquitin-Proteasome Dependent Proteolysis. Affiliated tissues include pancreas, heart and liver, and related phenotypes are failure to thrive and malabsorption

Disease Ontology : 12 A syndrome 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® : 57 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) (Updated 20-May-2021)

KEGG : 36 Johanson-Blizzard syndrome is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia, scalp defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Johanson-Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital... more...

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Related Diseases for Johanson-Blizzard Syndrome

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 jacobsen syndrome 32.3 SNX19 NFRKB JAM3 ARHGAP32
2 aplasia cutis congenita, nonsyndromic 11.5
3 bamforth syndrome 11.3
4 exocrine pancreatic insufficiency 10.8
5 hypothyroidism 10.7
6 autosomal recessive disease 10.7
7 branchiootic syndrome 1 10.7
8 sensorineural hearing loss 10.6
9 anus, imperforate 10.4
10 microcephaly 10.4
11 hypopituitarism 10.4
12 diarrhea 10.4
13 ectodermal dysplasia 10.4
14 dwarfism 10.4
15 tooth agenesis 10.3
16 anodontia 10.3
17 alopecia 10.3
18 hypoglycemia 10.3
19 growth hormone deficiency 10.3
20 hypotonia 10.3
21 orofaciodigital syndrome v 10.2 TCTN3 CPLANE1
22 retinitis pigmentosa 61 10.2 UBR2 UBR1
23 anorectal anomalies 10.1
24 atrial standstill 1 10.1
25 obsessive-compulsive disorder 10.1
26 pancreatitis, hereditary 10.1
27 vesicoureteral reflux 1 10.1
28 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
29 craniosynostosis with fibular aplasia 10.1
30 holoprosencephaly 1 10.1
31 pancreatic agenesis 1 10.1
32 coffin-lowry syndrome 10.1
33 patent ductus arteriosus 1 10.1
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 deficiency anemia 10.1
36 congenital hypothyroidism 10.1
37 vitamin b12 deficiency 10.1
38 stickler syndrome 10.1
39 portal hypertension 10.1
40 hypospadias 10.1
41 bronchopneumonia 10.1
42 pancytopenia 10.1
43 dilated cardiomyopathy 10.1
44 diamond-blackfan anemia 10.1
45 heart septal defect 10.1
46 atrial heart septal defect 10.1
47 pancreas disease 10.1
48 lipomatosis 10.1
49 situs inversus 10.1
50 diabetes mellitus 10.1

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



Diseases related to Johanson-Blizzard Syndrome
Sources

Symptoms & Phenotypes for Johanson-Blizzard Syndrome

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Human phenotypes related to Johanson-Blizzard Syndrome:

58 31 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
7 exocrine pancreatic insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0001738
8 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
9 abnormal hair pattern 58 31 hallmark (90%) Very frequent (99-80%) HP:0010720
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
12 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
13 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
14 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
15 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
16 anal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0002023
17 lacrimation abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000632
18 anteriorly placed anus 58 31 frequent (33%) Frequent (79-30%) HP:0001545
19 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
20 absent lacrimal punctum 58 31 frequent (33%) Frequent (79-30%) HP:0001092
21 hypoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003075
22 abnormal vagina morphology 31 frequent (33%) HP:0000142
23 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
24 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
25 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
26 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
27 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
28 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
29 dextrocardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001651
30 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
31 abnormality of the nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0005288
32 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
33 hepatic failure 31 occasional (7.5%) HP:0001399
34 cholestasis 31 occasional (7.5%) HP:0001396
35 hypotonia 31 occasional (7.5%) HP:0001252
36 hypothyroidism 31 HP:0000821
37 muscular hypotonia 58 Occasional (29-5%)
38 abnormality of the dentition 58 Very frequent (99-80%)
39 abnormality of the nail 31 HP:0001597
40 malformation of the heart and great vessels 58 Occasional (29-5%)
41 strabismus 31 HP:0000486
42 cryptorchidism 31 HP:0000028
43 atrial septal defect 31 HP:0001631
44 joint laxity 31 HP:0001388
45 clinodactyly of the 5th finger 31 HP:0004209
46 micropenis 31 HP:0000054
47 death in infancy 58 Occasional (29-5%)
48 sparse scalp hair 31 HP:0002209
49 ventricular septal defect 31 HP:0001629
50 hypocalcemia 31 HP:0002901

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

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

Skeletal:
joint laxity
delayed bone age

Genitourinary Kidneys:
hydronephrosis
calicectasis

Genitourinary External Genitalia Female:
clitoromegaly

Genitourinary Internal Genitalia Female:
septate vagina
double vagina
urethrovaginal fistulae

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

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

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)

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Pancreas:
exocrine pancreatic insufficiency

Genitourinary External Genitalia Male:
micropenis
hypospadias

Laboratory Abnormalities:
hypocalcemia
low total serum protein

Abdomen Gastrointestinal:
anteriorly placed anus
imperforate anus

Muscle Soft Tissue:
anasarca
edema (hands and feet)

Skeletal Hands:
transverse palmar crease
fifth finger clinodactyly

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ATE1 CC2D2A CEP290 CLPS CPLANE1 JAM3
2 cellular MP:0005384 10.18 ARHGAP32 ATE1 CC2D2A CEP290 CPLANE1 JAM3
3 craniofacial MP:0005382 10.02 ATE1 CC2D2A CEP290 CLPS CPLANE1 JAM3
4 growth/size/body region MP:0005378 10 ATE1 CC2D2A CEP290 CLPS CPLANE1 JAM3
5 digestive/alimentary MP:0005381 9.87 ATE1 CC2D2A CLPS CPLANE1 JAM3 RPGRIP1L
6 embryo MP:0005380 9.86 ATE1 CC2D2A CPLANE1 RPGRIP1L TCTN3 UBR1
7 mortality/aging MP:0010768 9.8 ATE1 CC2D2A CEP290 CLPS CPLANE1 JAM3
8 nervous system MP:0003631 9.44 ARHGAP32 ATE1 CC2D2A CEP290 CLPS CPLANE1
Sources

Drugs & Therapeutics for Johanson-Blizzard Syndrome

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

Cochrane evidence based reviews: johanson blizzard syndrome

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Genetic Tests for Johanson-Blizzard Syndrome

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Genetic tests related to Johanson-Blizzard Syndrome:

# Genetic test Affiliating Genes
1 Johanson-Blizzard Syndrome 29 UBR1
Sources

Anatomical Context for Johanson-Blizzard Syndrome

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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

40
Pancreas, Heart, Liver, Bone, Kidney, Tongue
Sources

Publications for Johanson-Blizzard Syndrome

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Articles related to Johanson-Blizzard Syndrome:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. 6 57 61
19006206 2008
2
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. 61 57 6
18553553 2008
3
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). 61 6 57
16311597 2005
4
Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome. 61 57
12725595 2003
5
Johanson-Blizzard syndrome. a new case with autopsy findings. 57 61
11693787 2001
6
A case of Johanson-Blizzard syndrome complicated by diabetes mellitus. 57 61
8448911 1993
7
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome. 57 61
2185632 1990
8
Johanson-Blizzard syndrome: clinical and pathological findings in 2 sibs. 57 61
2669481 1989
9
Johanson-Blizzard syndrome. 57 61
2645405 1989
10
The Johanson-Blizzard syndrome: a second report of full autopsy findings. 57 61
3812553 1987
11
The Johanson-Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature. 57 61
3536218 1986
12
Johanson-Blizzard syndrome with normal intelligence. 61 57
4050852 1985
13
The Johanson-Blizzard syndrome. 57 61
7120319 1982
14
Roentgencephalometric analysis of craniofacial growth in the Johanson-Blizzard syndrome. 61 57
7341643 1981
15
[Ectodermal dysplasia and exocrine pancreatic insufficiency--a familial syndrome]. 61 57
285801 1979
16
The Johanson-Blizzard syndrome: case report and autopsy findings. 57 61
474625 1979
17
Johanson-Blizzard syndrome in a large inbred kindred with three involved members. 61 57
709902 1978
18
A syndrome of congenital hypoplasia of the alae nasi, situs inversus, and severe hypoproteinemia in two siblings. 57
7310588 1981
19
Exocrine pancreatic insufficiency with congenital anomalies. 57
978327 1976
20
Special female hermaphroditism associated with multiple disorders. 57
5066658 1972
21
A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption. 57
5171616 1971
22
Proteolytic and lipolytic deficiency of the exocrine pancreas. 57
5795344 1969
23
Trypsinogen deficiency disease. 57
5006445 1967
24
Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly. 57
5914119 1966
25
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. 61
33410501 2021
26
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. 61
33340455 2021
27
Loss of protein quality control gene UBR1 sensitizes Saccharomyces cerevisiae to the aminoglycoside hygromycin B. 61
33554225 2020
28
Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics. 61
31980351 2020
29
Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center. 61
30308536 2018
30
Johanson-Blizzard syndrome with associated urogenital anomalies. 61
30097546 2018
31
A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome. 61
29885188 2018
32
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. 61
29178640 2017
33
Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase. 61
28392261 2017
34
Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome. 61
28576536 2017
35
Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. 61
27397733 2016
36
Is a fatty pancreas a banal lesion? 61
27679730 2016
37
A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome. 61
27656521 2016
38
Oblique facial clefts in Johanson-Blizzard syndrome. 61
26989884 2016
39
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. 61
26149651 2015
40
Johanson-Blizzard syndrome presenting as chronic diarrhoea. 61
27522741 2015
41
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. 61
25076350 2014
42
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. 61
25036160 2014
43
Mutations in the human UBR1 gene and the associated phenotypic spectrum. 61
24599544 2014
44
Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype. 61
24052374 2014
45
[Johanson-Blizzard syndrome: audiological features and results of cochlear implantation]. 61
24781182 2014
46
Clinical utility gene card for: Johanson-Blizzard syndrome. 61
23652379 2014
47
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. 61
23900243 2013
48
Johanson-blizzard syndrome. 61
23778732 2013
49
Johanson-Blizzard syndrome: dental findings and management. 61
24172004 2013
50
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. 61
23463671 2013
Sources

Variations for Johanson-Blizzard Syndrome

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ClinVar genetic disease variations for Johanson-Blizzard Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBR1 NM_174916.3(UBR1):c.407A>G (p.His136Arg) SNV Pathogenic 4678 rs119477054 GRCh37: 15:43374846-43374846
GRCh38: 15:43082648-43082648
2 UBR1 UBR1, IVS20DS, T-C, +2 SNV Pathogenic 4679 GRCh37:
GRCh38:
3 UBR1 NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) SNV Pathogenic 4680 rs119477055 GRCh37: 15:43340592-43340592
GRCh38: 15:43048394-43048394
4 UBR1 NM_174916.3(UBR1):c.2839+5G>A SNV Pathogenic 4681 rs1596106023 GRCh37: 15:43314895-43314895
GRCh38: 15:43022697-43022697
5 UBR1 NM_174916.3(UBR1):c.1440-1G>A SNV Pathogenic 31918 rs1596118528 GRCh37: 15:43340690-43340690
GRCh38: 15:43048492-43048492
6 UBR1 NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter) SNV Pathogenic 208624 rs797045112 GRCh37: 15:43276138-43276138
GRCh38: 15:42983940-42983940
7 UBR1 NM_174916.3(UBR1):c.2959C>T (p.Arg987Ter) SNV Pathogenic 1029285 GRCh37: 15:43309361-43309361
GRCh38: 15:43017163-43017163
8 UBR1 NM_174916.3(UBR1):c.1539+2T>G SNV Likely pathogenic 1027875 GRCh37: 15:43340588-43340588
GRCh38: 15:43048390-43048390
9 UBR1 NM_174916.3(UBR1):c.2261G>A (p.Arg754His) SNV Uncertain significance 1029284 GRCh37: 15:43322260-43322260
GRCh38: 15:43030062-43030062
10 UBR1 NM_174916.3(UBR1):c.947G>A (p.Arg316His) SNV Uncertain significance 1029286 GRCh37: 15:43351938-43351938
GRCh38: 15:43059740-43059740
11 UBR1 NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) SNV Uncertain significance 915405 GRCh37: 15:43242549-43242549
GRCh38: 15:42950351-42950351
12 UBR1 NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) SNV Likely benign 789072 rs77360687 GRCh37: 15:43348610-43348610
GRCh38: 15:43056412-43056412

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

72 (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 rs138836735
12 UBR1 p.Arg754His VAR_075191 rs156713102
13 UBR1 p.Gln1102Glu VAR_075192
14 UBR1 p.Arg1242Gly VAR_075193 rs123554156
15 UBR1 p.Pro1426Leu VAR_075194
16 UBR1 p.Ser1427Phe VAR_075195 rs148093979
17 UBR1 p.Ser1431Pro VAR_075196 rs140972409
18 UBR1 p.Gly1661Arg VAR_075197

Sources

Expression for Johanson-Blizzard Syndrome

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

Pathways for Johanson-Blizzard Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 65
Show member pathways
 11.75 TMEM216 TCTN3 RPGRIP1L CEP290 CC2D2A
2
Ubiquitin-Proteasome Dependent Proteolysis 63
11.23 UBR5 UBR2 UBR1
3
protein ubiquitylation 1
10.62 UBR1 UBA6
Sources

GO Terms for Johanson-Blizzard Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 TMEM216 TMEM138 RPGRIP1L CPLANE1 CEP290 CC2D2A
2 cilium GO:0005929 9.63 TMEM216 TMEM138 RPGRIP1L CPLANE1 CEP290 CC2D2A
3 ubiquitin ligase complex GO:0000151 9.5 UBR3 UBR2 UBR1
4 MKS complex GO:0036038 9.13 TMEM216 CEP290 CC2D2A
5 ciliary transition zone GO:0035869 9.02 TMEM216 RPGRIP1L CPLANE1 CEP290 CC2D2A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.8 UBR7 UBR5 UBR3 UBR2 UBR1 UBA6
2 ubiquitin-dependent protein catabolic process GO:0006511 9.78 UBR3 UBR2 UBR1 UBA6
3 kidney development GO:0001822 9.67 RPGRIP1L CPLANE1 CC2D2A
4 ciliary basal body-plasma membrane docking GO:0097711 9.65 TMEM216 TCTN3 RPGRIP1L CEP290 CC2D2A
5 cell projection organization GO:0030030 9.63 TMEM216 TMEM138 TCTN3 CPLANE1 CEP290 CC2D2A
6 non-motile cilium assembly GO:1905515 9.54 TMEM216 RPGRIP1L CC2D2A
7 establishment of planar polarity GO:0001736 9.46 RPGRIP1L CPLANE1
8 cellular response to leucine GO:0071233 9.43 UBR2 UBR1
9 protein localization to ciliary transition zone GO:1904491 9.4 CPLANE1 CC2D2A
10 cilium assembly GO:0060271 9.17 TMEM216 TMEM138 TCTN3 RPGRIP1L CPLANE1 CEP290
11 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 9.13 UBR3 UBR2 UBR1

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 9.02 UBR7 UBR5 UBR3 UBR2 UBR1
2 leucine binding GO:0070728 8.96 UBR2 UBR1
Sources

Sources for Johanson-Blizzard Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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