Disease #00001

Official abbreviation JBS
Name Johanson-Blizzard syndrome (JBS)
OMIM ID 243800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 84
Phenotype entries for this disease 127
Associated with 1 gene UBR1
Associated tissues -
Disease features -
Remarks -


Individuals

84 entries on 1 page. Showing entries 1 - 84.
Legend  

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Genes screened

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00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, RAD51B, SLC26A2 ACADM, ADA, ARSB, ATP7B, CYP21A2, ETFB, GALT, GLB1, IGHMBP2, NHLRC1, NPHP3, NPHP3-ACAD11, NPHS1, SLC22A5, SLC26A2, TMPPE 34 1 LOVD-team, but with Curator vacancy
00001503 - - - M - - - - - - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B inguinal hernia bilateral, 3 hypomelanitic maculae. ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, SMARCE1 ARID1B, SMARCA2, SMARCA4, SMARCB1 15 1 Gijs Santen
00064633 - - - F yes Iran - >00y03m 0 - - JBS Diabetes: unknown Renal anomalies: none UBR1 - 0 1 Maja Sukalo
00064635 - - - M no ? (unknown) Caucasian >00y08m 0 - - JBS Diabetes: no Renal anomalies: no UBR1 - 0 1 Maja Sukalo
00073556 - PubMed: Zenker 2005 #JBS04; PubMed: Sukalo 2014 #1.1; PubMed: Corona-Rivera 2016 #3 - M no Costa Rica Indian >11y09m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073557 - PubMed: Guzman and Carranza 1997 #2; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.1; PubMed: Corona-Rivera 2016 #5 - F no Costa Rica Indian >08y 0 - - JBS diabetes n/a, no GH deficiency (-HP:0000824) UBR1 UBR1 1 1 Maja Sukalo
00073558 - PubMed: Guzman and Carranza 1997 #1; PubMed: Zenker 2005 #JBS03; PubMed: Sukalo 2014 #2.2; PubMed: Corona-Rivera 2016 #6 - M no Costa Rica Indian 00y09m 0 - - JBS diabetes n/a, GH deficiency n/a, autism UBR1 UBR1 1 1 Maja Sukalo
00073559 - PubMed: Zenker 2005 #JBS01; PubMed: Sukalo 2014 #3.1 - F yes Turkey - >10y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073560 - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #1; PubMed: Sukalo 2014 #4.1 - M yes Turkey - >07y 0 - - JBS diabetes n/a, GH deficiency (HP:0000824), delayed bone age UBR1 UBR1 1 1 Maja Sukalo
00073561 - PubMed: Zenker 2005 #JBS02; PubMed: Schoner 2011 #2; PubMed: Sukalo 2014 #4.2 - M yes Turkey - 00y00m 0 - - JBS diabetes n/a, GH deficiency n/a, cystic kidney displasia, hypoplastic epididymides UBR1 UBR1 1 1 Maja Sukalo
00073562 - PubMed: Rudnik-Schöneborn 1991 #2; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.1 - M yes Lebanon - >14y10m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073563 - PubMed: Rudnik-Schöneborn 1991 #1; PubMed: Zenker 2005 #JBS06; PubMed: Sukalo 2014 #5.2 - M yes Lebanon - 00y01m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073564 - PubMed: Sukalo 2014 #5.3 - F yes (Germany) - >00y04m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073565 - PubMed: Zenker 2005 #JBS05; PubMed: Hwang 2011 #2; PubMed: Sukalo 2014 #6.1 - F no Netherlands - >13y06m 0 - - JBS no diabetes, GH deficiency n/a, undefined genital and renal malformations UBR1 UBR1 2 1 Maja Sukalo
00073566 - PubMed: Vanlieferinghen 2001; PubMed: Zenker 2005 #JBS09; PubMed: Sukalo 2014 #7.1 - M yes Turkey - 00y01m 0 - - JBS diabetes n/a, GH deficiency n/a, normal bone age UBR1 UBR1 1 1 Maja Sukalo
00073567 - PubMed: Vanlieferinghen 2003; PubMed: Sukalo 2014 #7.2 - M yes Turkey - 00y00m 0 - - JBS diabetes n/a, GH deficiency n/a, bilatral ureteral dilatation, hydronephrosis, polycystic dysplasia UBR1 UBR1 1 1 Maja Sukalo
00073568 - PubMed: Zerres and Holtgrave 1986; PubMed: Zenker 2005 #JBS07; PubMed: Sukalo 2014 #8.1 - F no Germany - >11y 0 - - JBS diabetes n/a, GH deficiency n/a, delayed bone age UBR1 UBR1 2 1 Maja Sukalo
00073569 - PubMed: Rudnik-Schöneborn 1991 #3; PubMed: Swanenburg de Veye 1991; PubMed: Zenker 2005 #JBS08; PubMed: Sukalo 2014 #9.1 - M no Netherlands Caucasian >25y 0 - - JBS no diabetes, GH deficiency n/a, IQ 130, delayed bone age UBR1 UBR1 2 1 Maja Sukalo
00073570 - PubMed: Jones 1994 #1; PubMed: Timoney 2004 #2; PubMed: Zenker 2005 #JBS10; PubMed: Cheung 2009 #1; PubMed: Sukalo 2014 #10.1 Further publication: {PMID:Corona-Rivera et al. 2016:26989884} #7 F no Portugal - >12y 0 - - JBS diabetes (onset 12y), no GH deficiency (-HP:0000824), moderate autism, left duplex collecting system and left ureterocele with reflux UBR1 UBR1 1 1 Maja Sukalo
00073571 - PubMed: Jones 1994 #2; PubMed: Timoney 2004 #1; PubMed: Zenker 2005 #JBS11; PubMed: Cheung 2009 #2; PubMed: Sukalo 2014 #11.1 - M yes India - >13y 0 - - JBS no diabetes, GH deficiency n/a, severe autism, motor delay (wheel chair) UBR1 UBR1 1 1 Maja Sukalo
00073572 - PubMed: Zenker 2005 #JBS13; PubMed: Sukalo 2014 #12.1 - M yes Israel - >04y06m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073573 - PubMed: Vieira 2002; PubMed: Zenker 2005 #JBS12; PubMed: Sukalo 2014 #13.1 - F yes ? (unknown) African >01y01m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073574 - PubMed: Sukalo 2014 #14.1 - M yes Afghanistan - >03y 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073575 - PubMed: Hwang 2011 #3; PubMed: Sukalo 2014 #15.1 - F no Portugal - >15y03m 0 - - JBS no diabetes, no GH deficiency (-HP:0000824), hyperactivity, café-au-lait spots UBR1 UBR1 2 1 Maja Sukalo
00073576 - PubMed: Mcheik 2002; PubMed: Sukalo 2014 #16.1 - M no France - >11y11m 0 - - JBS no diabetes, GH deficiency n/a, hyperactivity, café-au-lait spot UBR1 UBR1 2 1 Maja Sukalo
00073577 - PubMed: Sukalo 2014 #17.1 - M no Germany Caucasian >19y 0 - - JBS no diabetes, GH deficiency n/a, mild autism UBR1 UBR1 2 1 Maja Sukalo
00073578 - PubMed: Hwang 2011 #1; PubMed: Sukalo 2014 #18.1 - F no Spain - >20y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073579 - PubMed: Elting 2008 #1; PubMed: Sukalo 2014 #19.1 - F yes Turkey - >07y01m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073580 - PubMed: Elting 2008 (sister of #1); PubMed: Sukalo 2014 #19.2 - F yes Turkey - >22y 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073581 - PubMed: Sukalo 2014 #20.1 - F ? Guatemala - >00y05m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073582 - PubMed: Sukalo 2014 #21.1 - M no - (not applicable) Cherokee >12y01m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073583 - PubMed: Reichart 1979 #1; PubMed: Sukalo 2014 #22.1 - F no Germany - >12y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073584 - PubMed: Reichart 1979 #2; PubMed: Sukalo 2014 #22.2 - F no Germany - >07y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073585 - PubMed: Alkhouri 2008; PubMed: Sukalo 2014 #23.1 - F no - Caucasian >12y03m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073586 - PubMed: Sukalo 2014 #24.1 So far, only heterozygous UBR1 mutation detected (Sanger sequencing and MLPA) F no - Caucasian >37y 0 - - JBS diabetes (age of onset: 18y), no GH deficiency (-HP:0000824), 2 abortions, 1 unaffected son UBR1 UBR1 1 1 Maja Sukalo
00073587 - PubMed: Elting 2008 #2; PubMed: Sukalo 2014 #25.1 - F yes Iran - >05y06m 0 - - JBS no diabetes, GH deficiency n/a, motor delay UBR1 UBR1 1 1 Maja Sukalo
00073588 - PubMed: Elting 2008 (sister of #2); PubMed: Sukalo 2014 #25.2 - F yes Iran - 00y03m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073589 - PubMed: Sukalo 2014 #26.1 - F no - Caucasian >05y07m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073590 - PubMed: Sukalo 2014 #27.1 - M no Indonesia - >08y11m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073591 - PubMed: Sukalo 2014 #28.1 - F no Australia Caucasian >18y 0 - - JBS diabetes (age of onset: 11y), no GH deficiency (-HP:0000824), retarted bone age, small right kidney UBR1 UBR1 2 1 Maja Sukalo
00073592 - PubMed: Sukalo 2014 #29.1 - M no Germany Caucasian >12y02m 0 - - JBS no diabetes, no GH deficiency (-HP:0000824) UBR1 UBR1 1 1 Maja Sukalo
00073593 - PubMed: Sukalo 2014 #29.2 - F no Germany Caucasian >09y09m 0 - - JBS no diabetes, no GH deficiency (-HP:0000824) UBR1 UBR1 1 1 Maja Sukalo
00073594 - PubMed: Sukalo 2014 #30.1 - M - Brazil - >15y02m 0 - - JBS no diabetes, GH deficiency n/a, motor delay UBR1 UBR1 1 1 Maja Sukalo
00073595 - PubMed: Sukalo 2014 #31.1 - F no Brazil Caucasian >15y 0 - - JBS no diabetes, GH deficiency n/a, mildly retarded bone age UBR1 UBR1 2 1 Maja Sukalo
00073596 - PubMed: Sukalo 2014 #32.1 - F ? ? (unknown) - >23y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073597 - PubMed: Sukalo 2014 #32.2 - M ? ? (unknown) - >20y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073598 - PubMed: Sukalo 2014 #32.3 - F ? ? (unknown) - >17y 0 - - JBS diabetes (age of onset: 16y), GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073599 - PubMed: Liu 2011; PubMed: Sukalo 2014 #33.1 - F no Mongolia - >01y09m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073600 - PubMed: Sukalo 2014 #34.1 - M no Germany Caucasian >07y08m 0 - - JBS no diabetes, GH deficiency n/a, renal anomalies UBR1 UBR1 2 1 Maja Sukalo
00073601 - PubMed: Fallahi 2011; PubMed: Sukalo 2014 #35.1 - M yes (Iran) - >03y06m 0 - - JBS no diabetes, GH deficiency (HP:0000824), mitral valve dysplasia, myxomatous mitral valve UBR1 UBR1 1 1 Maja Sukalo
00073602 - PubMed: Al-Dosari 2008; PubMed: Sukalo 2014 #36.1 - M yes Saudi Arabia - >00y03m 0 - - JBS no diabetes, GH deficiency n/a, jaundiced (7d), direct hyperbilirubinemia, renal anomalies UBR1 UBR1 1 1 Maja Sukalo
00073603 - PubMed: Sukalo 2014 #37.1; PubMed: Corona-Rivera 2016 #4 - M no Russian Federation - >17y 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 2 1 Maja Sukalo
00073604 - PubMed: Sukalo 2014 #38.1 - M yes Turkey - >00y08m 0 - - JBS diabetes n/a, GH deficiency n/a, hypoalbuminemia, anemia UBR1 UBR1 1 1 Maja Sukalo
00073605 - PubMed: Almashraki 2011; PubMed: Sukalo 2014 #39.1 - M yes Yemen - >03y 0 - - JBS no diabetes, GH deficiency n/a, anaeamia, thrombocytopenia, no eye lashes and brows UBR1 UBR1 1 1 Maja Sukalo
00073606 - PubMed: Sukalo 2014 #40.1 - M no United States - >22y 0 - - JBS no diabetes, GH deficiency n/a, right kidney hypertrophic, left missing UBR1 UBR1 2 1 Maja Sukalo
00073607 - PubMed: Sukalo 2014 #41.1 - F yes Mexico - >02y03m 0 - - JBS no diabetes, GH deficiency n/a, LDL low, delayed bone age, café-au-lait spots UBR1 UBR1 1 1 Maja Sukalo
00073608 - PubMed: Sukalo 2014 #42.1 - F no Mexico - >13y07m 0 - - JBS no diabetes, GH deficiency n/a, umbilical hernia at birth, urinary meatus imperforated at birth, absence of vaginal inner lips UBR1 UBR1 2 1 Maja Sukalo
00073609 - PubMed: Sukalo 2014 #43.1 - F yes Turkey - >01y08m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073610 - PubMed: Sukalo 2014 #44.1; PubMed: Corona-Rivera 2016 #2 - F yes Costa Rica - 00y04m 0 - - JBS no diabetes, GH deficiency n/a, natal teeth UBR1 UBR1 1 1 Maja Sukalo
00073611 - PubMed: Sukalo 2014 #45.1 - M yes Turkey - >01y03m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073612 - PubMed: Sukalo 2014 #46.1 - F yes India - 00y04m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073613 - PubMed: Singh 2014; PubMed: Sukalo 2014 #47.1 - M yes India - >00y03m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073614 - PubMed: Godbole 2013; PubMed: Sukalo 2014 #48.1 - F yes India - >00y10m 0 - - JBS diabetes n/a, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073615 - PubMed: Sukalo 2014 #49.1 - F yes Bahrain - >01y02m 0 - - JBS no diabetes, GH deficiency n/a UBR1 UBR1 1 1 Maja Sukalo
00073616 - PubMed: Sukalo 2014 #50.1 - F yes Brazil - 00y03m 0 - - JBS no diabetes, GH deficiency (HP:0000824), congenital hypopituitarism UBR1 UBR1 1 1 Maja Sukalo
00073617 - PubMed: Quaio 2014 - F no Brazil - 00y03m 0 - - JBS - UBR1 UBR1 1 1 Maja Sukalo
00073618 - - - M yes Turkey - >00y00m 0 - - JBS no diabetes, renal anomalies UBR1 UBR1 1 1 Maja Sukalo
00073619 - - - F yes Yemen - >00y02m 0 - - JBS no diabetes, no renal anomalies UBR1 UBR1 1 1 Maja Sukalo
00073620 - - - F yes Iran - >00y03m 0 - - JBS diabetes?, no renal anomalies UBR1 UBR1 1 1 Maja Sukalo
00073621 - - no clinical data available M yes - - >04y04m 0 - - JBS - UBR1 UBR1 1 1 Maja Sukalo
00073622 - - - M no ? (unknown) Caucasian >00y08m 0 - - JBS no diabetes, no renal anomalies UBR1 UBR1 2 1 Maja Sukalo
00073623 - - - M yes Turkey - >02y00m 0 - - JBS no diabetes, no renal anomaliesne UBR1 UBR1 1 1 Maja Sukalo
00073624 - PubMed: Atik 2015 - F no Turkey - >03y 0 - - JBS no diabetes, no renal anomaliesne UBR1 UBR1 2 1 Maja Sukalo
00073625 - - - F yes Turkey - >01y00m 0 - - JBS diabetes?, no renal anomalies UBR1 UBR1 1 1 Maja Sukalo
00073626 - - - F yes Turkey - >00y05m 0 - - JBS diabetes?, renal anomalies unknown UBR1 UBR1 1 1 Maja Sukalo
00073627 - - - F yes ? (unknown) - >00y01m 0 - - JBS diabetes?, renal anomalies unknown UBR1 UBR1 1 1 Maja Sukalo
00073628 - PubMed: Corona-Rivera 2016 #1 - M no Mexico - 00y02m 0 - - JBS diabetes?, renal anomalies left multicystic kidney with hydronephrosis UBR1 UBR1 2 1 Maja Sukalo
00073629 - - - M yes Turkey - >00y05m 0 - - JBS no diabetes, no renal anomaliesne UBR1 UBR1 1 1 Maja Sukalo
00079972 - - - F ? Costa Rica - >00y05m 0 - - JBS - UBR1 UBR1 1 1 Maja Sukalo
00079973 - - - M yes Turkey - >01y05m 0 - - JBS - UBR1 UBR1 1 1 Maja Sukalo
00079976 - - - M yes Turkey - - 0 - - JBS - UBR1 UBR1 1 1 Maja Sukalo
00079978 - - - F no ? (unknown) Hispanic >04y02m 0 - - JBS - UBR1 UBR1 2 1 Maja Sukalo
00207360 - PubMed: Velayati 2011 - M - - - 28y 0 - - JBS Gaucher disease SCARB2 SCARB2 1 1 -
00260827 - - - ? ? - (not applicable) - - 0 - - JBS - IFNGR2 IFNGR2 6 1 -
Legend