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ISCA Disease List

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Gene content of ISCA arrays 402 gene regions, 377 registered OMIM records syndrome chromosome Gene Band OMIM ISCA 8x60k 1p36 deletion chr1 SKI 1p36 164780 yes 1p36 deletion chr1 TP73 1p36 601990 yes Bartter 4 chr1 CLCNKA 1p36 602024 yes Bartter 3 chr1 CLCNKB 1p36 602023 yes Bartter 4 chr1 BSND 1p32 606412 yes NFIA Haploinsufficiency chr1 NFIA 1p31 600727 yes monosomy 1p31 p22 chr1 DIRAS3 1p31 605193 yes Stickler syndrome chr1 COL11A1 1p21 120280 yes atrial fibrillation chr1 GJA5 1q21 121013 yes Thrombocytopenia absent radius syndrome chr1 GJA8 1q21 600897 yes Short stature chr1 LHX4 1q25 602146 yes Van der Woude syndrome chr1 IRF6 1q32 607199 yes Fryns 1q41 chr1 DISP1 1q41 607502 yes autism chr1 DISC1 1q42 605210 yes MR chr1 TBCE 1q42 604934 yes Feingold chr2 MYCN 2q24 164840 yes Pseudovaginal perineoscrotal hypospadias chr2 SRD5A2 2p23 607306 yes Noonan 4 chr2 SOS1 2p22 182530 yes Cystinuria with mitochondrial disease chr2 SLC3A1 2p21 104614 yes Cystinuria with mitochondrial disease chr2 PREPL 2p21 104614 yes Holopresencaphly 2 chr2 SIX3 2p21 603714 yes autism chr2 NRXN1 2p16 600565 yes MicrodeletionReg 2p15p16.1 microdeletion chr2 2p15 602559 yes ion Nephronophthsis 1 chr2 NPHP1 2q13 607100 yes Holoprosencephaly 9 chr2 GLI2 2q14 165230 yes visceral heterotaxy chr2 CFC1 2q21 605194 yes Mowat-Wilson syndrome chr2 ZEB2 2q22 605802 yes autism chr2 SLC4A10 2q24 605556 yes SCN1A-related seizures chr2 SCN1A 2q24 182389 yes HYPOMYELINATION, GLOBAL CEREBRAL chr2 SLC25A12 2q31 603667 yes Split/hand foot malformation -5 chr2 DLX1 2q31 600029 yes Split/hand foot malformation -5 chr2 DLX2 2q31 126255 yes Synpolydactyly chr2 EVX2 2q31 142991 yes Synpolydactyly chr2 HOXDgenes 2q31 142989 yes Synpolydactyly chr2 HOXD13 2q31 142989 yes Synpolydactyly chr2 HOXD9 2q31 142982 yes Cleft pallet chr2 SATB2 2q32 608148 yes 2q32.2 chr2 BMPR2 2q32 600799 yes Waardenburg syndrome I chr2 PAX3 2q36 606597 yes 2q37 chr2 HDAC4 2q37 605314 yes autsim spectrum disorder chr3 CNTN4 3p25 607280 yes Von Hippel Lindau chr3 VHL 3p25 608537 yes Noonan syndrome 5 (NS5) chr3 RAF1 3p25 164760 yes Loeys-Dietz syndrome chr3 TGFBR2 3p24 190182 yes MR chr3 TDGF1 3p21 187395 yes Waardenburg chr3 MITF 3p14 158645 yes Bartter with autosomal dominant hypocalcemia chr3 CASR 3q13 601199 yes Blepharophimosis chr3 FOXL2 3q22 605597 yes Dandy Walker chr3 ZIC4 3q24 608948 yes Dandy Walker chr3 ZIC1 3q24 600470 yes Microphtthalmia chr3 SOX2 3q26 184429 yes Optic Atrophy chr3 TP73L 3q28 603273 yes 3q29 microdeletion syndrome chr3 PAK2 3q29 605022 yes Wolf-Hirschhorn chr4 LETM1 4p16 604407 yes Wolf-Hirschhorn chr4 WHSC1 4p16 602952 yes Wolf-Hirschhorn chr4 WHSC2 4p16 606026 yes cleft lip chr4 MSX1 4p16 142983 yes Polycystic kidney disease chr4 PKD2 4q22 173910 yes Rieger chr4 PITX2 4q25 601542 yes Cri du chat chr5 TERT 5p15 187270 yes Cornelia de Lange chr5 NIPBL 5p13 608667 yes Gardner chr5 APC 5q22 601731 yes Adult-onset autosomal dominant chr5 LMNB1 5q23 150340 yes leukodystrophy Chronic pancreatitis chr5 SPINK1 5q32 167790 yes deafness chr5 TCOF1 5q33 606847 yes Holoprosencephaly and preaxial polydactly chr5 FBXW11 5q35 605651 yes Atrial septal defect (ASD) with atrioventricular chr5 NKX2-5 5q35 600584 yes conduction defects Craniosynostosis chr5 MSX2 5q35 123101 yes SOTOS chr5 NSD1 5q35 606681 yes CHROMOSOME 6pter-p24 DELETION chr6 FKHL7(FOXC1) 6p24 609010 yes SYNDROME Congenitial adrenal hyperplasia (CAH) chr6 CYP21A2 6p21 201910 yes VEGFA disorders chr6 VEGFA 6p21 192240 yes Cleidocranial dysplasia chr6 RUNX2 6p21 600211 yes obesity, severe chr6 SIM1 6q16 603128 yes MENTAL RETARDATION, AUTOSOMAL chr6 GRIK2 6q16 138244 yes RECESSIVE 6; MRT6 eye chr6 AHI1 6q23 608894 yes diabetes mellitus, transient neonatal, 1 chr6 ZAC(PLAGL1) 6q24 603044 yes diabetes mellitus, transient neonatal, 1 chr6 HYMAI 6q24 603044 yes Hepatocellular carcinoma chr6 IGF2R 6q25 147260 yes Saethre-Chotzen chr7 TWIST1 7p21 601622 yes GREIG CEPHALOPOLYSYN DACTYLY chr7 GLI3 7p14 165240 yes SYNDROME Silver-Russell chr7 GRB10 7p12 161523 yes Williams-Beuren chr7 ELN 7q11 130160 yes Williams-Beuren chr7 LIMK1 7q11 194050 yes Williams-Beuren chr7 NCF1 7q11 608512 yes Ehlers - Danlos chr7 COL1A2 7q21 120160 yes Dystonia-11 chr7 SGCE 7p21 604149 yes Dystonia-11 chr7 PEG10 7p21 604149 yes Dystonia-11 chr7 PEG10_ICregion 7p21 604149 yes Dystonia-11 chr7 PPP1R9A 7q21 602468 yes Split/hand foot chr7 SHFM1 7q21 183600 yes Split/hand foot chr7 DLX5 7q21 600028 yes none chr7 NPTX2 7q22 600750 yes Lissencephaly with cerebellar hypoplasia chr7 RELN 7q22 600514 yes Verbal dyspraxia chr7 FOXP2 7q31 605317 yes autism chr7 MET 7q31 164860 yes autism chr7 CADPS2 7q31 609978 yes autism chr7 CPA4 7q32 607635 yes autism chr7 MEST 7q32 601029 yes autism chr7 KLF14 7q32 609393 yes MR chr7 PRSS1 7q34 601564 yes autism chr7 CNTNAP2 7q35-36 276000 yes autism chr7 EN2 7q36 131310 yes Holoprosencephaly 3 chr7 SHH 7q36 600725 yes POLYDACTYLY, PREAXIAL II chr7 LMBR1 7q36 605522 yes CURRARINO SYNDROME chr7 HLXB9(MNX1) 7q36 142994 yes MR chr8 DLGAP2 8p23 605438 yes diGeorge chr8 MFHAS1 8p23 605352 yes diGeorge chr8 GATA4 8p23 600576 yes Kabuki Syndrome chr8 CTSB 8p23 116810 yes Kallman 1 chr8 FGFR1 8p12 136350 yes CHARGE syndrome chr8 CHD7 8q12 601653 yes Branchio-Oto-Renal Syndrome chr8 EYA1 8q13 602064 yes Manic depressive psychosis chr8 IMPA1 8q21 602064 yes congenital heart chr8 ZFPM2(FOG2) 8q23 603693 yes Trischororhinophlange al, Langer-Giedion chr8 TRPS1 8q23 604386 yes Syndrome probes Langer-Giedion Syndrome probes chr8 EXT1 8q23 150230 yes 8q24.3 chr8 KCNK9 8q24 605874 yes CHROMOSOME 9p DELETION SYNDROME chr9 DMRT1 9p24 602424 yes CHROMOSOME 9p DELETION SYNDROME chr9 DMRT2 9p24 604935 yes HOLOPROSENCEPH ALY 7 chr9 PTCH1 9q22 601309 yes 9q22.32-q22.33 / Loeys-Dietz chr9 TGFBR1 9q22 190181 yes XY sex reversal chr9 NR5A1 9q3 184757 yes Nail-Patella Syndrome chr9 LMX1B 9q33 602575 yes Tuberous sclerosis chr9 TSC1 9q34 605284 yes 9q34.3 syndrome chr9 EHMT1 9q34 607001 yes diGeorge 2 chr10 GATA3 10p14 131320 yes Nebulette chr10 NEBL 10p12 605491 yes Hirschsprung Disease Plus chr10 RET 10q11 164761 yes autism chr10 EGR2 10q21 129010 yes 10q22-23 deletion chr10 NRG3 10q22 605533 yes 10q22-23 deletion chr10 GRID1 10q22 610659 yes Cowden chr10 BMPR1A 10q23 601728 yes MR chr10 PTEN 10q23 612242 yes CATARACT, JUVENILE, WITH chr10 SLC16A12 10q23 611910 yes MICROCORNEA AND GLUCOSURIA Split/hand foot malformation -3 chr10 LBX1 10q24 604255 yes Split/hand foot malformation -3 chr10 BTRC 10q24 603482 yes Split/hand foot malformation -3 chr10 POLL 10q24 606343 yes Split/hand foot malformation -3 chr10 FBXW4 10q24 600095 yes Schizencephaly chr10 EMX2 10q26 600035 yes Beckwith-Wiedemann chr11 H19 11p15 103280 yes a non-coding region chr11 H19_ICregion 11p15 yes Beckwith-Wiedemann chr11 IGF2 11p15 147470 yes 176730, Beckwith-Wiedemann chr11 INS 11p15 yes 191290 long QT syndrome chr11 KCNQ1 11p15 607542 yes chr11 KCNQ1_ICregion 11p15 607542 yes Beckwith-Wiedemann chr11 CDKN1C 11p15 607542 yes Beckwith-Wiedemann chr11 SLC22A18 11p15 602631 yes Beckwith-Wiedemann chr11 PHLDA2 11p15 602631 yes Beckwith-Wiedemann chr11 OSBPL5 11p15 606733 yes Craniosynostosis chr11 SOX6 11p15.1-p15.2 607257 yes Infantile hyperinulinism, enteropathy and chr11 ABCC8 11p15 600509 yes deafness (Ushers disease) Infantile hyperinulinism, enteropathy and chr11 USH1C 11p15 605242 yes deafness (Ushers disease) Aniridia chr11 PAX6 11p13-p14 607108 yes WAGR Syndrome probes chr11 WT1 11p13 607102 yes Potocki-Shaffer syndrome chr11 EXT2 11p11 608210 yes Potocki-Shaffer syndrome chr11 ALX4 11p11 605420, yes Leukodystrophy chr11 NDUFV1 11q13 161015 yes Smith-Lemli-Opitz chr11 DHCR7 11q13 602858 yes 11q14 microdeletion chr11 FZD4 11q14 604579 yes Bartter 2 chr11 KCNJ1 11q24 600359 yes Timothy syndrome chr12 CACNA1C 12p13 114205 yes Sticker 1 chr12 COL2A1 12q13 120140 yes Osteopoikilosis chr12 LEMD3 12q14 607844 yes 12q14.3 deletion chr12 GRIP1 12q14 604597 yes Joubert 5 chr12 CEP290 12q21 610142 yes Noonan 1 chr12 PTPN11 12q24 176876 yes Holt-Oram syndrome chr12 TBX5 12q14 601620 yes Ulnar-Mammary chr12 TBX3 12q24 601621 yes GJB2(Connexin Deafness chr13 13q12 121011 yes 26) CRYPTORCHIDISM, UNILATERAL OR chr13 LGR8(RXFP2) 13q13 606655 yes BILATERAL Breast cancer chr13 BRCA2 13q13 600185 yes Retinoblastoma chr13 RB1 13q14 180200 yes 13q21.32 del Protocadherin 9 chr13 PCDH9 13q21 603581 yes Hirschsprung Disease Plus chr13 EDNRB 13q22 131244 yes brachydactyly chr13 GPC5 13q31 602446 yes brachydactyly chr13 GPC6 13q31 604404 yes Holopresencaphyl 5 chr13 ZIC2 13q32 603073 yes 14q11.2 deletion chr14 SUPT16H 14q11 605012 yes MicrodeletionReg 14q11.2 deletion chr14 14q11 605012 yes ion 14q11.2 deletion chr14 CHD8 14q11 610528 yes 14q12 deletion chr14 FOXG1B 14q12 yes Oligodontia chr14 PAX9 14q13 yes 14q22 microdeletion, Orofacial cleft 11 chr14 BMP4 14q22 112262 yes 14q22 microdeletion, Microphthalmia, chr14 OTX2 14q22 600037 yes syndromic 5 14q22 microdeletion chr14 SIX6 14q22 606326 yes 14q22 microdeletion chr14 SIX1 14q22 601205 yes 14q22 microdeletion chr14 SIX4 14q22 606342 yes maternal UPD chr14 DLK1 14q32 176290 yes DLK1&MEG3_IC maternal UPD chr14 14q32 176290 yes regio maternal UPD chr14 MEG3 14q32 605636 yes Angelman / Prader Willi chr15 NIPA2 15q11 608146 yes Angelman / Prader Willi chr15 NIPA1 15q11 608146 yes Angelman / Prader Willi chr15 MKRN3 15q11 603586 yes Angelman / Prader Willi chr15 MAGEL2 15q11 605283 yes Angelman / Prader Willi chr15 NDN 15q11 602117 yes Angelman / Prader Willi chr15 SNRPN 15q11 182279 yes Angelman / Prader Willi chr15 PWS_ICregion 15q11 182279 yes Angelman
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  • Kabuki Syndrome

    Kabuki Syndrome

    Kabuki syndrome Description Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size ( microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth. A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections ( otitis media), hearing loss, and early puberty.
  • Evaluation of Cancer-Derived Myocardial Impairments Using a Mouse Model

    Evaluation of Cancer-Derived Myocardial Impairments Using a Mouse Model

    www.oncotarget.com Oncotarget, 2020, Vol. 11, (No. 41), pp: 3712-3722 Research Paper Evaluation of cancer-derived myocardial impairments using a mouse model Yoshihiro Miyagawa1, Shota Nukaga1,2, Takuya Mori1, Rina Fujiwara-Tani1, Kiyomu Fujii1, Shiori Mori1, Kei Goto1,3, Shingo Kishi1, Takamitsu Sasaki1, Chie Nakashima1, Hitoshi Ohmori1, Isao Kawahara1,2, Yi Luo4 and Hiroki Kuniyasu1 1Department of Molecular Pathology, Nara Medical University, Kashihara, Nara 634-8521, Japan 2Division of Rehabilitation, Hanna Central Hospital, Ikoma, Nara 630-0243, Japan 3Division of Rehabilitation, Hoshida Minami Hospital, Katano, Osaka 576-0022, Japan 4Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-Innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu Province 226001, China Correspondence to: Yi Luo, email: [email protected] Hiroki Kuniyasu, email: [email protected] Keywords: cachexia; myocardium; atrophy; mitochondria; oxidative stress Received: June 26, 2020 Accepted: September 10, 2020 Published: October 13, 2020 Copyright: © 2020 Miyagawa et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Myocardial damage in cancer patients is emphasized as a cause of death; however, there are not many murine cachexia models to evaluate cancer-derived heart disorder. Using the mouse cachexia model that we established previously, we investigated myocardial damage in tumor-bearing mice. In cachexic mice, decreased heart weight and myocardial volume, and dilated left ventricular lumen, and atrophied cardiomyocytes were noted. The cardiomyocytes also showed accumulated 8-hydroxydeoxyguanosine, decreased leucine zipper and EF-hand- containing transmembrane protein-1, and increased microtubule-associated protein light chain3-II.