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

Mendelian Disease genes on Chromosome 5 (from OMIM)

Band Name of Disorder (MIM # of disorder) Gene Symbols MIM# of Locus

5p15.33 Hartnup disorder (234500) HND, SLC6A19

5p15.31 Homocystinuria-megaloblastic anemia, cbl E type (236270) MTRR 602568

5p15.2 Craniometaphyseal dysplasia (123000) ANKH, HANK, ANK, 605145

CMDJ, CCAL2, CPPDD

5p15 Leigh syndrome (256000); Mitochondrial respiratory chain SDHA, SDH2, SDHF 600857

complexII deficiency (252011)

5p15-p14 Primary ciliary dyskinesia (242650); Kartagener syndrome (244400) DNAH5, HL1, PCD 603335

5p13.3 Alpha-methylacyl-CoA racemase deficiency AMACR 604489

5p13.3 Laron dwarfism (262500) GHR 600946

5p13.3 Oculocutaneous albinism, type IV (606574) MATP, AIM1 606202

5p13.3-p13.2 Brachydactyly, type A1 (112500) BDA1B

5p13.2 Severe combined immunodeficiency, T-cell negative, IL7R 146661

B-cell/natural killer cell-positive type, 600802

5p13.1 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (601559) LIFR, STWS, SWS, SJS2 151443

5p13.1 Ketoacidosis due to SCOT deficiency SCOT, OXCT 245050

5q11.2 Molybdenum cofactor deficiency, type B (252150) MOCS2, MPTS 603708

5q11.2 Complex I deficiency (252010); Leigh syndrome (256000) NDUFS4, AQDQ 602694

5q11.2 Polycystic ovary syndrome (184700) FST, FS 136470

Klippel-Feil syndrome (214300) KFS

5q11.2 Neonatal alloimmune thrombocytopenia ITGA2, CD49B, BR 192974

5q12.1 Cockayne syndrome 1, classical (216400) CKN1

5q13.2 3-Methylcrotonylglycinuria II MCCC2, MCCB 210210

5q13.1-5q13.2 Spinal muscular atrophy-1 (253300); SMA-2 (253550); SMN1, SMA1, SMA2, 600354

SMA-3 (253400) ;SMA-4 (271150) SMA3, SMA4

5q13.3 Sandhoff disease (268800) HEXB 606873

5q13.3 Klippel-Trenaunay syndrome (149000) VG5Q, HUS84971, 608464

FLJ10283

5q13-q14 Aortic aneurysm, familial thoracic 2 (607087) AAT2, FAA2

Wagner syndrome (143200) WGN1, ERVR

5q13-q22 Capillary malformations, hereditary (163000) CMAL

Fibromatosis, gingival (605544; 135300) GINGF2, GGF2, HGF2

5q14.1 Hermansky-Pudlak syndrome (608233) AP3B1, ADTB3A, HPS2 603401

5q14.1 Maroteaux-Lamy syndrome ARSB 253200

5q14.1 Dimethylglycine dehydrogenase deficiency (605850) DMGDH, DMGDHD 605849

5q14.3 Parkes Weber syndrome (608355); RASA1, GAP, CMAVM, 139150

Capillary malformation-arteriovenous malformation (608354) PKWS

5q14.3 Convulsions, familial febrile (604352); Usher syndrome, MASS1, VLGR1, FEB4 602851

typeIIC (605472) KIAA0686, USH2C

5q15 Obesity with impaired prohormone processing (600955) PCSK1, NEC1, PC1, PC3 162150

5q22.2 Colorectal cancer MCC 159350

5q22.2 Gardner syndrome; Adenomatous polyposis coli; Desmoid disease, APC, GS, FPC 175100

hereditary (135290); Turcot syndrome (276300)

5q23.1 D-bifunctional protein deficiency (261515) HSD17B4 601860

5q23.1 Cutis laxa, recessive, type I (219100) LOX 153455

5q23.2 Contractural arachnodactyly, congenital FBN2, CCA 121050

5q23.3 Carnitine deficiency, systemic primary (212140) SLC22A5, OCTN2, 603377

CDSP, SCD

5q23.3 Myelodysplastic syndrome; Myelogenous leukemia, acute FACL6, ACS2 604443

5q31 Inflammatory bowel disease-5 (266600) IBD5 606348

5q31 Marinesco-Sjogren syndrome MSS 248800

5q31 Paget disease of bone (602080) PDB4 606263

5q31.1 Corneal dystrophy (121900; 122200; 608470; 607541; TGFBI, CSD2, CDGG1, 601692

607541; 608471; 602082) CSD, BIGH3, CDG2

5q31.1 Leukemia, acute promyelocytic, NPM/RARA type NPM1 164040

5q31.1 Anderson disease (607689); Chylomicron retention disease (246700); SARA2, SAR1B, CMRD 607690

Chylomicron retention disease with Marinesco-Sjogren

syndrome (607692)

5q31.2 Muscular dystrophy, limb-girdle, type 1A (159000) TTID, MYOT 604103

5q31.2-q31.3 Epilepsy, pyridoxine-dependent (266100) EPD, PDE

5q31.3 Deafness, autosomal dominant (124900) DIAPH1, DFNA1, LFHL1 602121

5q31.3 Diphtheria, susceptibility to DTR, DTS, HBEGF, 126150

HEGFL

5q31.3 Leukemia, juvenile myelomonocytic (607785) GRAF 605370

5q31.3 Cortisol resistance NR3C1, GCR, GRL 138040

5q31-q33 Eosinophilia, familial EOS 131400

5q31-q33 Plasmodium falciparum parasitemia, intensity of PFBI 248310

5q31-q33 Schistosoma mansoni infection, susceptibility/resistance to SM1 181460

5q31-5q32 Myopathy, distal 2 (606070) MPD2

5q32 Pancreatitis, hereditary (167800); SPINK1, PSTI, PCTT, 167790

Tropical calcific pancreatitis (608189) TATI

5q32 Spinocerebellar ataxia 12 (604326) PPP2R2B 604325

5q32 Deafness, autosomal dominant 15 (602459) POU4F3, BRN3C 602460

5q32-q33.1 Diastrophic dysplasia (222600); Atelosteogenesis II (256050); SLC26A2, DTD, DTDST, 606718

Achondrogenesis Ib (600972); Epiphyseal dysplasia, D5S1708, EDM4

multiple (226900)

5q33.1 Myeloproliferative disorder with eosinophilia (131440) PDGFRB, PDGFR 173410

5q33.1 Retinitis pigmentosa, autosomal recessive PDE6A, PDEA 180071

5q33.1 GM2-gangliosidosis, AB variant GM2A 272750

5q33.1 Startle disease/hyperekplexia, autosomal dominant (149400) GLRA1, STHE 138491

5q33.1 Charcot-Marie-Tooth disease, type 4C (601596) KIAA1985 608206

5q33.1 Netherton syndrome (256500) SPINK5, LEKTI 605010

5q33.1 Treacher Collins-Franceschetti syndrome-1 (TREACLE; 606847) TCOF1, MFD1

5q33.1 Myeloid malignancy, predisposition to CSF1R, FMS 164770

5q33.3 BCG and salmonella infection, disseminated (209950) IL12B, NKSF2 161561

5q33.3 Muscular dystrophy, limb-girdle, type 2F (601287); SGCD, SGD, LGMD2F, 601411

Cardiomyopathy, dilated, 1L (606685) CMD1L

5q34 Epilepsy, juvenile myoclonic (606904) GABRA1 137160

5q35.3 Ehlers-Danlos syndrome, type VIIC (225410) ADAMTS2, NPI 604539

5q35.3 Factor XII deficiency F12, HAF 234000

5q34 Epilepsy, generalized, with febrile seizures plus (604233); GABRG2, GEFSP3, 137164

Epilepsy, childhood absence (607681); Myoclonic epilepsy, CAE2, ECA2

severe, of infancy (607208)

5q35.3 Pituitary hormone deficiency, combined PROP1 601538

5q35 Arthrogryposis multiplex congenita, neurogenic AMCN, AMCN1 208100

5q35.1 Atrial septal defect with atrioventricular conduction defects NKX2E, CSX 600584

(108900); Tetrology of Fallot (187500)

5q35.2 Craniosynostosis, type 2 (604757); Parietal foramina 1 (168500) MSX2, CRS2, HOX8 123101

5q35.2-q35.3 Sotos syndrome (117550); Leukemia, acute myeloid (601626); NSD1, ARA267, STO 606681

Weaver syndrome (277590)

5q35.2 Cancer progression/metastasis FGFR4 134935

5q35.3 Ehlers-Danlos syndrome, progeroid form (130070) B4GALT7, XGALT1, XGPT1 604327

5q35.3 Lymphedema, hereditary I (153100); Hemangioma, FLT4, VEGFR3, PCL 136352

capillaryinfantile, somatic (602089)