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