MCID: JHN001
MIFTS: 48

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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 36MeSH, 24GTR, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Johanson-Blizzard Syndrome:

Name: Johanson-Blizzard Syndrome 49 10 11 45 22 12 51 67 65
Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia and Congenital Deafness 45 22
Johanson Blizzard Syndrome 36 24
 
Jbs 45 67
Jacobsen Distal 11q Deletion Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
johanson-blizzard syndrome:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
johanson-blizzard syndrome:
Mortality/Aging: death in childhood
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 243800
Disease Ontology10 DOID:14694
MeSH36 C535880
Orphanet51 2315
SNOMED-CT59 75979009
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C535880
UMLS via Orphanet66 C0175692
MedGen34 C0175692
UMLS65 C0175692, C0795841

Summaries for Johanson-Blizzard Syndrome

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NIH Rare Diseases:45 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 jacobsen syndrome and aplasia cutis congenita, nonsyndromic, and has symptoms including short stature, short nose and malabsorption. An important gene associated with Johanson-Blizzard Syndrome is UBR1 (Ubiquitin Protein Ligase E3 Component N-Recognin 1). Affiliated tissues include pancreas, skin and heart, and related mouse phenotypes are digestive/alimentary and muscle.

Disease Ontology:10 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:67 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:49 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 the top 20 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

Symptoms:

 51 (show all 35)
  • short/small nose
  • thin/hypoplastic ala nasi
  • anomalies of teeth and dentition
  • alopecia
  • abnormal implantation of hair
  • malabsorption/chronic diarrhea/steatorrhea
  • structural anomalies of the pancreas
  • pancreatic failure/exocrine pancreas disease
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation
  • defect/anomaly of lacrimal system
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • sensorineural deafness/hearing loss
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • uterine/uterus/fallopian tubes anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • delayed bone age
  • anaemia
  • hypoproteinemia
  • microcephaly
  • small/triangular nares/nostrils
  • cutaneous edema
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • congenital cardiac anomaly/malformation/cardiopathy
  • cardiac septal defect
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • diabetes mellitus
  • hypotonia
  • death in infancy

HPO human phenotypes related to Johanson-Blizzard Syndrome:

(show all 78)
id Description Frequency HPO Source Accession
1 short stature hallmark (90%) HP:0004322
2 short nose hallmark (90%) HP:0003196
3 malabsorption hallmark (90%) HP:0002024
4 exocrine pancreatic insufficiency hallmark (90%) HP:0001738
5 alopecia hallmark (90%) HP:0001596
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 underdeveloped nasal alae hallmark (90%) HP:0000430
8 urogenital fistula typical (50%) HP:0100589
9 cognitive impairment typical (50%) HP:0100543
10 reduced number of teeth typical (50%) HP:0009804
11 hypoproteinemia typical (50%) HP:0003075
12 delayed skeletal maturation typical (50%) HP:0002750
13 anemia typical (50%) HP:0001903
14 microdontia typical (50%) HP:0000691
15 delayed eruption of teeth typical (50%) HP:0000684
16 lacrimation abnormality typical (50%) HP:0000632
17 sensorineural hearing impairment typical (50%) HP:0000407
18 abnormality of female internal genitalia typical (50%) HP:0000008
19 displacement of the external urethral meatus occasional (7.5%) HP:0100627
20 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
21 hypoplasia of penis occasional (7.5%) HP:0008736
22 abnormality of the nares occasional (7.5%) HP:0005288
23 situs inversus totalis occasional (7.5%) HP:0001696
24 abnormality of the cardiac septa occasional (7.5%) HP:0001671
25 muscular hypotonia occasional (7.5%) HP:0001252
26 diabetes mellitus occasional (7.5%) HP:0000819
27 microcephaly occasional (7.5%) HP:0000252
28 dilated cardiomyopathy rare (5%) HP:0001644
29 hepatic failure rare (5%) HP:0001399
30 cholestasis rare (5%) HP:0001396
31 anasarca HP:0012050
32 urethrovaginal fistula HP:0008716
33 aplasia cutis congenita of scalp HP:0007385
34 agenesis of permanent teeth HP:0006349
35 hypoplasia of the primary teeth HP:0006334
36 midline skin dimples over anterior/posterior fontanelles HP:0005498
37 short stature HP:0004322
38 clinodactyly of the 5th finger HP:0004209
39 increased circulating very-low-density lipoprotein cholesterol HP:0003362
40 hypocalcemia HP:0002901
41 delayed skeletal maturation HP:0002750
42 hypoplastic nipples HP:0002557
43 fair hair HP:0002286
44 colonic diverticula HP:0002253
45 frontal upsweep of hair HP:0002236
46 sparse scalp hair HP:0002209
47 malabsorption HP:0002024
48 anal atresia HP:0002023
49 exocrine pancreatic insufficiency HP:0001738
50 situs inversus totalis HP:0001696
51 atria septal defect HP:0001631
52 ventricular septal defect HP:0001629
53 abnormality of the nail HP:0001597
54 anteriorly placed anus HP:0001545
55 small for gestational age HP:0001518
56 intrauterine growth retardation HP:0001511
57 failure to thrive HP:0001508
58 joint laxity HP:0001388
59 skull defect HP:0001362
60 muscular hypotonia HP:0001252
61 intellectual disability HP:0001249
62 septate vagina HP:0001153
63 absent lacrimal punctum HP:0001092
64 cafe-au-lait spot HP:0000957
65 single transverse palmar crease HP:0000954
66 hypothyroidism HP:0000821
67 diabetes mellitus HP:0000819
68 strabismus HP:0000486
69 convex nasal ridge HP:0000444
70 underdeveloped nasal alae HP:0000430
71 sensorineural hearing impairment HP:0000407
72 microcephaly HP:0000252
73 rectovaginal fistula HP:0000143
74 hydronephrosis HP:0000126
75 clitoral hypertrophy HP:0000057
76 micropenis HP:0000054
77 hypospadias HP:0000047
78 cryptorchidism HP:0000028

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 Syndrome22 UBR1

Anatomical Context for Johanson-Blizzard Syndrome

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MalaCards organs/tissues related to Johanson-Blizzard Syndrome:

33
Pancreas, Skin, Heart, Bone, Colon, Uterus, Endothelial

Animal Models for Johanson-Blizzard Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Johanson-Blizzard Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6CFTR, CLPS, NOTCH1, UBR1
2MP:00053698.6NOTCH1, PARK2, UBR1, UBR2
3MP:00053787.5CFTR, CLPS, NOTCH1, PARK2, UBR1, UBR2
4MP:00053767.1CFTR, CLPS, NOTCH1, PARK2, PDLIM1, UBR1

Publications for Johanson-Blizzard Syndrome

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Articles related to Johanson-Blizzard Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Serum prostate-specific antigen levels in men with prediabetes: a cross-sectional study. (25723617)
2015
2
The Risks for Ovarian, Endometrial, Breast, Colorectal, and Other Cancers in Women With Newly Diagnosed Endometriosis or Adenomyosis: A Population-Based Study. (25893280)
2015
3
Morphological effects on expression of growth differentiation factor 15 (GDF15), a marker of metastasis. (23996089)
2014
4
The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17. (24554770)
2014
5
Complex formation and function of estrogen receptor I+ in transcription requires RIP140. (25145671)
2014
6
Waist circumference cutoff points to predict obesity, metabolic syndrome, and cardiovascular risk in Turkish adults. (24369465)
2013
7
Postdural puncture headache. (24245572)
2013
8
Radiation Therapy for Early Stage Lung Cancer. (24436535)
2013
9
CD95 is part of a let-7/p53/miR-34 regulatory network. (23166734)
2012
10
CT assessment of subtypes of pulmonary emphysema in females. (21339793)
2011
11
Angiotensin II type 1 receptor signaling regulates feeding behavior through anorexigenic corticotropin-releasing hormone in hypothalamus. (21525005)
2011
12
Structural basis for androgen specificity and oestrogen synthesis in human aromatase. (19129847)
2009
13
Silencing of calpain expression reduces the metastatic potential of human osteosarcoma cells. (19747555)
2009
14
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. (19147669)
2009
15
Expression of EphA2 and E-cadherin in gastric cancer: correlated with tumor progression and lymphogenous metastasis. (19048396)
2009
16
Rapid evolution of an X-linked microRNA cluster in primates. (17416744)
2007
17
Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex. (17156698)
2006
18
Membrane type 1-matrix metalloproteinase is regulated by chemokines monocyte-chemoattractant protein-1/ccl2 and interleukin-8/CXCL8 in endothelial cells during angiogenesis. (15516694)
2005
19
Aortic coarctation suspected by Doppler echocardiography of renal arteries in hypertensive patients referred to a hospital outpatient hypertension clinic. (15934419)
2005
20
Malignant hypertensive retinopathy studied with optical coherence tomography. (15805924)
2005
21
Infection with Helicobacter pylori affects all major secretory cell populations in the human antrum. (15986858)
2005
22
Ki-67 expression in patients with uterine leiomyomas, uterine smooth muscle tumors of uncertain malignant potential (STUMP) and uterine leiomyosarcomas (LMS). (15488127)
2004
23
Interference of human and Drosophila APP and APP-like proteins with PNS development in Drosophila. (15385958)
2004
24
Molecular mechanism for the potentiation of the transcriptional activity of human liver receptor homolog 1 by steroid receptor coactivator-1. (15143151)
2004
25
Co-secretion of aldosterone and cortisol by an adrenocortical carcinoma. (15218335)
2004
26
Reduced MLH1 expression after chemotherapy is an indicator for poor prognosis in esophageal cancers. (14555508)
2003
27
Escherichia coli K1 invasion increases human brain microvascular endothelial cell monolayer permeability by disassembling vascular-endothelial cadherins at tight junctions. (14593586)
2003
28
Anti-cytokine therapeutics and infections. (12763679)
2003
29
Synthesis and biochemical evaluation of novel and potent inhibitors of the enzyme oestrone sulphatase (ES). (11983489)
2002
30
C-reactive protein and insulin resistance in non-obese Japanese type 2 diabetic patients. (12489071)
2002
31
Partial caudal duplication in a newborn associated with meningomyelocele and complex heart anomaly. (11241432)
2001
32
Clearance of antiphospholipid antibodies in pregnancies treated with heparin. (11239644)
2001
33
Vasoactive intestinal peptide and nitric oxide in the acute phase following burns and trauma. (11164660)
2001
34
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. (11139247)
2001
35
Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. (10874298)
2000
36
Recruitment and activation of Raf-1 kinase by nitric oxide-activated Ras. (10933809)
2000
37
Anemia in newborn. (10773920)
1998
38
Construction and characterization of a replication-deficient adenovirus expressing rat-soluble interleukin-6 receptor. (9307980)
1997
39
Eccrine porocarcinoma with intracerebral extension. (9204344)
1997
40
Synergistic effect of partially inactivating mutations in steroid 21- hydroxylase deficiency. (8989258)
1997
41
Modulation of CD3-gamma gene expression after HIV type 1 infection of the WE17/10 T cell line is progressive and occurs in concert with decreased production of viral p24 antigen. (8744582)
1996
42
Treatment of Crohn's disease with anti-tumor necrosis factor chimeric monoclonal antibody (cA2). (7797011)
1995
43
Abnormalities of blood coagulation and fibrinolysis in psoriasis. (7516205)
1994
44
Lipedematous scalp. (8002658)
1994
45
Thermospray tandem mass spectrometric analysis of oxygen incorporation into citrulline by nitric oxide synthase. (1725963)
1991
46
Catecholamine release and arrhythmias in acute myocardial ischaemia. (1804638)
1991
47
Parkinsonism and defects of praxis following methanol poisoning. (1955909)
1991
48
Sparganosis in the Masailand. (4404249)
1972
49
Canine cystinuria: its urinary amino acid pattern and genetic analysis. (4641203)
1972
50
Heavy chain disease. (5687601)
1968

Variations for Johanson-Blizzard Syndrome

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

67 (show all 18)
id Symbol AA change Variation ID SNP ID
1UBR1p.His136ArgVAR_024741
2UBR1p.Gly1279SerVAR_024742
3UBR1p.Val122LeuVAR_075179
4UBR1p.Cys127PheVAR_075180
5UBR1p.His166ArgVAR_075181
6UBR1p.Leu217ArgVAR_075182
7UBR1p.Ile286ArgVAR_075183
8UBR1p.Leu317ProVAR_075184
9UBR1p.Ala563AspVAR_075187
10UBR1p.Ser700ProVAR_075189
11UBR1p.Arg754CysVAR_075190
12UBR1p.Arg754HisVAR_075191
13UBR1p.Gln1102GluVAR_075192
14UBR1p.Arg1242GlyVAR_075193
15UBR1p.Pro1426LeuVAR_075194
16UBR1p.Ser1427PheVAR_075195
17UBR1p.Ser1431ProVAR_075196
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)single nucleotide variantPathogenicrs797045112GRCh37Chr 15, 43276138: 43276138
2UBR1UBR1, IVS12AS, G-A, -1single nucleotide variantPathogenic
3UBR1NM_174916.2(UBR1): c.407A> G (p.His136Arg)single nucleotide variantPathogenicrs119477054GRCh37Chr 15, 43374846: 43374846
4UBR1UBR1, IVS20DS, T-C, +2single nucleotide variantPathogenic
5UBR1NM_174916.2(UBR1): c.1537C> T (p.Gln513Ter)single nucleotide variantPathogenicrs119477055GRCh37Chr 15, 43340592: 43340592
6UBR1UBR1, IVS26DS, G-A, +5single nucleotide variantPathogenic

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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GO Terms for genes affiliated with Johanson-Blizzard Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to leucineGO:00712339.8UBR1, UBR2
2negative regulation of TOR signalingGO:00320079.7UBR1, UBR2
3negative regulation of cell deathGO:00605489.1NOTCH1, PARK2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein transferase activityGO:00048429.2PARK2, UBR1, UBR2

Sources for Johanson-Blizzard Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet