MCID: JHN001
MIFTS: 47

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 pancreatitis, 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 bone, 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

UMLS symptoms related to Johanson-Blizzard Syndrome:


muscle spasticity, joint laxity

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, Bone, Heart, Colon, T cells, Uterus

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 56)
idTitleAuthorsYear
1
Oblique facial clefts in Johanson-Blizzard syndrome. (26989884)
2016
2
Two novel UBR1 gene mutations A+n a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation. (26149651)
2015
3
Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. (25076350)
2014
4
Clinical utility gene card for: Johanson-Blizzard syndrome. (23652379)
2014
5
Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation. (25036160)
2014
6
Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome. (23900243)
2013
7
Johanson-Blizzard syndrome: Hepatic and hematological features with novel genotype. (24052374)
2013
8
Johanson-blizzard syndrome. (23778732)
2013
9
Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome. (23463671)
2013
10
Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach. (21711208)
2012
11
Eponym: Johanson-Blizzard syndrome. (20556422)
2011
12
Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome. (20556423)
2011
13
Johanson-Blizzard syndrome. (22072859)
2011
14
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. (21931868)
2011
15
Johanson-Blizzard syndrome with Diamond-Blackfan anemia. (20810061)
2010
16
Johanson-Blizzard syndrome. (21180950)
2010
17
A discussion of the physical and oral characteristics of Coffin-Lowry syndrome, Stickler syndrome, and Johanson-Blizzard syndrome. (19903636)
2009
18
Ocular manifestations of the Johanson-Blizzard syndrome. (19717322)
2009
19
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (19006206)
2008
20
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (19058315)
2008
21
Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. (18553553)
2008
22
Johanson-Blizzard syndrome: autopsy findings with special emphasis on hypopituitarism and review of the literature. (17378628)
2007
23
Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. (16632090)
2006
24
Johanson-blizzard syndrome: loss of glucagon secretion response to insulin-induced hypoglycemia. (15379429)
2004
25
Johanson-Blizzard syndrome: A challenge in nasal reconstruction. (24115882)
2004
26
Johanson--blizzard syndrome. (15630323)
2004
27
Perioperative care of the child with the Johanson-Blizzard syndrome. (12535044)
2003
28
Johanson-Blizzard syndrome--a case study, behavioral manifestations, and successful treatment strategies. (11922888)
2002
29
Johanson-Blizzard syndrome. a new case with autopsy findings. (11693787)
2001
30
Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. (11154160)
2000
31
Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome. (10865022)
2000
32
Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (10423811)
1999
33
Two siblings with exocrine pancreatic hypoplasia and orofacial malformations (Donlan syndrome and Johanson-Blizzard syndrome). (9285390)
1997
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
A child of high intelligence with the Johanson-Blizzard syndrome. (1741972)
1991
38
The temporal bone in the Johanson-Blizzard syndrome. A CT study. (1815181)
1991
39
Johanson-Blizzard syndrome. Progression of pancreatic involvement in adulthood. (1995274)
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
Johanson-Blizzard syndrome and hypopituitarism. (3183841)
1988
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 in a large inbred kindred with three involved members. (709902)
1978
49
Johanson--Blizzard syndrome. (728568)
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:

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