Bleeding Disorder Due to Defective Thromboxane A2 Receptor (3) TBXA2R 188070 19P13 s1

Disease genes on Chromosome 19 (from OMIM)

A. Mendelian

Band Name of Disorder Gene Symbols MIM#

p13.3 Bleeding disorder due to defective thromboxane A2 receptor TBXA2R 188070

Cerebellar ataxia, Cayman type ATCAY, CLAC 601238

Convulsions, familial febrile, 2 FEB2 602477

Fucosyltransferase-6 deficiency FUT6 136836

GAMT deficiency GAMT 601240

Hematopoiesis, cyclic, 162800 ELA2 130130

Hirschsprung disease, 142623 NRTN, NTN 602018

Hypocalciuric hypercalcemia, type II HHC2, FHH2 145981

Muscular dystrophy with rimmed vacuoles MDRV 601846

Neutropenia, congenital, 202700 ELA2 130130

Scoliosis, idiopathic 1 AIS1, IS1 181800

Peutz-Jeghers syndrome, 175200 STK11, PJS, LKB1 602216

p13.3-p13.2 C3 deficiency C3 120700

Mucolipidosis IV, 252650 MCOLN1, ML4 605248

Persistent Mullerian duct syndrome, type I, 261550 AMH, MIF 600957

Weill-Marchesani syndrome WMS 277600

Erythrocytosis, familial, 133100 EPOR 133171

p13.2 Hypercholesterolemia, familial, 143890 LDLR, FHC, FH 606945

Glutaricaciduria, type I GCDH 231670

Hypothyroidism, congenital, 274400 SLC5A5, NIS 601843

p13.2-p13.1 Cerebral arteriopathy with subcortical infarcts and

leukoencephalopathy (CADASIL), 125310 NOTCH3, CASIL 600276

Epiphyseal dysplasia, multiple 1, 132400 COMP, EDM1, MED, PSACH 600310

Pseudoachondroplasia, 177170 COMP, EDM1, MED, PSACH 600310

Ichthyosis, nonlamellar and nonerythrodermic, congenital INLNE 604781

Polycystic liver disease PCLD 174050

SCID, autosomal recessive, T-negative/B-positive type JAK3, JAKL 600173

p13 Cerebellar ataxia, pure CACNA1A, CACNL1A4, SCA6 601011

Episodic ataxia, type 2, 108500 CACNA1A, CACNL1A4, SCA6 601011

Hemiplegic migraine, familial, 141500 CACNA1A, CACNL1A4, SCA6 601011

Spinocerebellar ataxia-6, 183086 CACNA1A, CACNL1A4, SCA6 601011

Leigh syndrome, 256000 NDUFS7, PSST 601825

p12 MHC class II deficiency, complementation group B, 209920 RFXANK 603200

p12-q12 Ichthyosis, lamellar, type 3 LI3 604777

q13 Deafness, autosomal dominant 4 DFNA4 600652

Dystonia-12 DYT12, RDP 128235

Glomerulosclerosis, focal segmental, 1, 603278 ACTN4, FSGS1, FSGS 604638

Hemochromatosis, juvenile, 602390 HAMP, LEAP1, HEPC, HFE2 606464

Hypercalciuric hypercalcemia, type III HHC3, FBH3 600740

Hypervalinemia or hyperleucine-isoleucinemia BCAT2, BCT2 113530

Orofacial cleft-3 OFC3 600757

Spastic paraplegia-12 SPG12 604805

Spondylocostal dysostosis, autosomal recessive, 1, 277300 DLL3, SCDO1 602768

q13.1 Camurati-Engelmann disease, 131300 TGFB1, DPD1, CED 190180

Central core disease, 117000 RYR1, MHS, CCO 180901

Cystinuria, type II SLC7A9, CSNU3 604144

Cystinuria, type III SLC7A9, CSNU3 604144

Generalized epilepsy with febrile seizures plus, 604233 SCN1B, GEFSP1 600235

Hemolytic anemia due to glucosephosphate isomerase deficiency GPI 172400

Hydrops fetalis, one form GPI 172400

Nephrosis-1, congenital, Finnish type, 256300 NPHS1, NPHN 602716

Presenile dementia with bone cysts, 221770 TYROBP, PLOSL 604142

Malignant hyperthermia susceptibility 1, 145600 RYR1, MHS, CCO 180901

q13.1-q13.2 Dejerine-Sottas neuropathy, autosomal recessive, 145900 PRX, CMT4F 605725

Maple syrup urine disease, type Ia BCKDHA, MSUD1 248600

Microcephaly, autosomal recessive 2 MCPH2 604317

q13.1-q13.3 Charcot-Marie-Tooth disease, type 4F CMT4F 605260

q13.2 Anemia, Diamond-Blackfan, 105650 RPS19, DBA 603474

Coumarin resistance, 122700 CYP2A6, CYP2A3 122720

Hyperlipoproteinemia, type Ib APOC2 207750

Hyperlipoproteinemia, type III APOE 107741 Sea-blue histiocyte disease, 269600 APOE 107741

q13.2-q13.3 3-methylglutaconicaciduria, type III, 258501 OPA3, MGA3 606580

DNA ligase I deficiency LIG1 126391

Heart block, progressive familial, type I, 113900 HB1, PFHB1, HBN1 604559

Myotonic dystrophy, 160900 DMPK, DM, DMK 605377

Cerebrooculofacioskeletal syndrome, 214150 ERCC2, EM9 126340

Trichothiodystrophy, 601675 ERCC2, EM9 126340

Xeroderma pigmentosum, group D, 278730 ERCC2, EM9 126340

q13.3 Charcot-Marie-Tooth disease, type 2B2 CMT2B2 605589

Glutaricaciduria, type IIB ETFB 130410

Muscular dystrophy, congenital, 1C FKRP, MDC1C, LGMD2I 606596

Muscular dystrophy, limb-girdle, type 2I, 607155 FKRP, MDC1C, LGMD2I 606596

Cone-rod retinal dystrophy-2, 120970 CRX, CORD2, CRD 602225

Leber congenital amaurosis, 204000 CRX, CORD2, CRD 602225

Retinitis pigmentosa, late-onset dominant, 268000 CRX, CORD2, CRD 602225

q13.3-13.4 Ciliary diskinesia, primary, 2, 242650 CILD2, PCD 606763

Basal ganglia disease, adult-onset, 606159 FTL 134790

Hyperferritinemia-cataract syndrome, 600886 FTL 134790

Spinocereballar ataxia-13 SCA13 605259

q13.4 Cardiomyopathy, familial hypertrophic TNNI3 191044

Cataract, cortical pulverulent, late-onset LIM2, MP19 154045

Nemaline myopathy, Amish type, 605355 TNNT1, ANM 191041

Retinitis pigmentosa-11, 600138 PRPF31, PRP31 606419

Spinocerebellar ataxia-14 SCA14 605361

B. Cancer

p13.3 Leukemia, acute lymphoblastic TCF3, E2A 147141

Leukemia, acute myeloid SH3GL1, EEN 601768

q13.1 Leukemia, acute myeloid CEBPA, CEBP 116897

p13.2-p13.1 Leukemia, T-cell acute lymphoblastoid LYL1 151440

q13 Leukemia/lymphoma, B-cell, 3 BCL3 109560

q13.1-q13.2 Ovarian carcinoma, 167000 AKT2 164731

q13.3-q13.4 T-cell acute lymphoblastic leukemia BAX 600040

Colorectal cancer BAX 600040

Hydatidiform mole HYDM 231090