MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6547
Name:Johanson Blizzard syndrome
Definition:
Alternative IDs:DO:DOID:14694|OMIM:243800
ParentIDs:MESH:D001006|MESH:D004476|MESH:D006130|MESH:D006319|MESH:D007037|MESH:D008607|MESH:D010182
TreeNumbers:C06.198.050/C535880 |C06.689/C535880 |C09.218.458.341.887/C535880 |C10.597.606.360/C535880 |C10.597.751.418.341.887/C535880 |C16.131.077.350/C535880 |C16.131.314.094/C535880 |C16.131.831.350/C535880 |C16.320.850.250/C535880 |C17.800.804.350/C535880 |C17.800.827.25
Synonyms:Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency |JBS |Johanson-Blizzard Syndrome |Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia |Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness |Nasal Alar Hypoplasia, Hypot
Slim Mappings:Congenital abnormality|Digestive system disease|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms|Skin disease
Reference: MedGen: C535880
MeSH: C535880
OMIM: 243800;
MSeqDR LSDB:  
Genes: UBR1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001597Abnormality of the nail
3 HP:0001092Absent lacrimal punctum
4 HP:0006349Agenesis of permanent teeth
5 HP:0002023Anal atresia
6 HP:0012050Anasarca
7 HP:0001545Anteriorly placed anus
8 HP:0007385Aplasia cutis congenita of scalp
9 HP:0001631Atrial septal defect
10 HP:0000957Cafe-au-lait spot
11 HP:0001362Calvarial skull defect
12 HP:0001396CholestasisHP:0040283
13 HP:0004209Clinodactyly of the 5th finger
14 HP:0008665Clitoral hypertrophy
15 HP:0002253Colonic diverticula
16 HP:0000444Convex nasal ridge
17 HP:0000028Cryptorchidism
18 HP:0003819Death in childhood
19 HP:0002750Delayed skeletal maturation
20 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
21 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
HP:0040283
22 HP:0001738Exocrine pancreatic insufficiency
NAMDC:  Exocrine pancreatic dysfunction
23 HP:0001508Failure to thrive
24 HP:0002286Fair hair
25 HP:0002236Frontal upsweep of hair
26 HP:0001290Generalized hypotonia
27 HP:0001399Hepatic failureHP:0040283
28 HP:0000126Hydronephrosis
29 HP:0002901Hypocalcemia
30 HP:0006334Hypoplasia of the primary teeth
31 HP:0002557Hypoplastic nipples
32 HP:0000047Hypospadias
33 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
34 HP:0003362Increased VLDL cholesterol concentration
35 HP:0001249Intellectual disability
36 HP:0001511Intrauterine growth retardation
37 HP:0001388Joint laxity
38 HP:0002024Malabsorption
39 HP:0000252Microcephaly
40 HP:0000054Micropenis
41 HP:0005498Midline skin dimples over anterior/posterior fontanelles
42 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
43 HP:0000143Rectovaginal fistula
44 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
45 HP:0001153Septate vagina
46 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
47 HP:0000954Single transverse palmar crease
48 HP:0001696Situs inversus totalis
49 HP:0001518Small for gestational age
50 HP:0002209Sparse scalp hair
51 HP:0000486Strabismus
52 HP:0000430Underdeveloped nasal alae
53 HP:0008716Urethrovaginal fistula
54 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)197131UBR1Uncertain significancers963383651RCV001170015; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154324254943242549GC15:g.43242549G>C-
NM_174916.3(UBR1):c.4913del (p.Asn1638fs)197131UBR1Likely pathogenic-1RCV001784003; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154324456943244569GTG43244568-
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)197131UBR1Pathogenic-1RCV001785111; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154325841843258418AT43258418-
NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)197131UBR1Pathogenicrs797045112RCV000190636; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154327613843276138AT15:g.43276138A>TClinGen:CA090953C0175692 243800 Johanson-Blizzard syndrome;
NM_174916.3(UBR1):c.4054-2A>G197131UBR1Pathogenic-1RCV001844312; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154327619343276193TC43276193-
NM_174916.3(UBR1):c.3848+5G>A197131UBR1Uncertain significance-1RCV001797013; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154328222343282223CT43282223-
NM_174916.3(UBR1):c.2839+5G>A197131UBR1Pathogenicrs1596106023RCV000004945; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154331489543314895CT15:g.43314895C>TOMIM:605981.0004C0175692 243800 Johanson-Blizzard syndrome;
NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)197131UBR1Conflicting interpretations of pathogenicityrs1131691524RCV000494094|RCV002063857; NMedGen:CN517202|MONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154332224843322248CT15:g.43322248C>TClinGen:CA392070953CN517202 not provided;
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)197131UBR1Uncertain significancers1567131023RCV001330528|RCV001859277; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315|MedGen:CN517202154332226043322260CT43322260-
NM_174916.3(UBR1):c.2254+2T>C197131UBR1Pathogenic-1RCV000004943; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154332476443324764AGNC_000015.9:g.43324764A>GOMIM:605981.0002C0175692 243800 Johanson-Blizzard syndrome;
NM_174916.3(UBR1):c.1912-6T>G197131UBR1Likely pathogenicrs1131691523RCV000493399|RCV002056824; NMedGen:CN517202|MONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154333008743330087AC15:g.43330087A>CClinGen:CA645369584CN517202 not provided;
NM_174916.3(UBR1):c.1539+2T>G197131UBR1Likely pathogenicrs2033511910RCV001328772; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154334058843340588AC43340588-
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter)197131UBR1Pathogenicrs119477055RCV000004944; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154334059243340592GA15:g.43340592G>AClinGen:CA117013,OMIM:605981.0003C0175692 243800 Johanson-Blizzard syndrome;
NM_174916.3(UBR1):c.1440-1G>A197131UBR1Pathogenicrs1596118528RCV000024606; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154334069043340690CT15:g.43340690C>TOMIM:605981.0005C0175692 243800 Johanson-Blizzard syndrome;
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)197131UBR1Benign/Likely benignrs77360687RCV001262701|RCV001819115|RCV000971625; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315|MedGen:CN169374|MedGen:CN517202154334861043348610TC15:g.43348610T>C-
NM_174916.3(UBR1):c.947G>A (p.Arg316His)197131UBR1Uncertain significancers147396426RCV001330530; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154335193843351938CT43351938-
NM_174916.3(UBR1):c.529-13G>A197131UBR1Pathogenic-1RCV001797014; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154336313643363136CT43363136-
NM_174916.3(UBR1):c.407A>G (p.His136Arg)197131UBR1Pathogenicrs119477054RCV000004942; NMONDO:MONDO:0009479,MedGen:C0175692,OMIM:243800, Orphanet:2315154337484643374846TC15:g.43374846T>CClinGen:CA117012,UniProtKB:Q8IWV7#VAR_024741,OMIM:605981.0001C0175692 243800 Johanson-Blizzard syndrome;
MSeqDR Portal