Welcome to the family of Iranian Human Geneticists

A Number of Human Diagnosable Diseases by Genetic   Screening

                            

A: Various Syndromes

Syndrome&Diseases .........................Genes or Chromosomal Areas

3-methylcrotonylglycinuria I & II ...................MCCC1 & MCCC2
Achondrogenesis ............................................Col2A1
Agammaglobulinemia ........................................BTK
Alagille Syndrome (AGS) ...................................JAG1
Alpha Thalassemia ............................................HBA
Alport syndrome .......................................COL4A5; COL4A6
Alzheimer early-onset .......................................APP
Alzheimer's disease ...........................................PSEN1
Aniridia,Keratitis,Peter’s anomaly .....................PAX6, WT1
Antithrombin (III) deficiency ..............................SerpinC1
Aortic aneurysm syndrome .........................TGFBR1 ; TGFBR2
Arrhythmogenic right ventricular cardiomyopathy...PKP2, JUP, DSP, TGFß3, RYR2
Ataxia telangiectasia ......................................... ATM
Autosomal dominant Dopa-responsive dystonia ......GCH1; TH; SGCE
Autosomal dominant lacrimoauriculodentodigital .....FGF10, FGFR2
Bening Familial Neonatal Convulsion ......................KCNQ2
Beta Thalassemia .............................HBB, HS1, HS2, HS3, HS4, HBE1, HBG2
Branchio-oto-renal dysplasia (BOR) .......................EYA1
BRIP1-CHEK1 ...............................................BRIP1, CHEK1
Brugada / long QT ............................................SCN5A
CACNA1A ........................................................CACNA1A
Cerebral Carvenous Malformations ..................CCM1 ; CCM2 ; CCM3
Charcot Marie Tooth (CMT) ........................ 17p11.2 PMP22
Charcot Marie Tooth (CMT2A/1B) ....................MFN2; MPZ
Charcot Marie Tooth, X-linked .............................GJB1
CHARGE syndrome ............................................CHD7
Classic galactosemia .......................................GALT; IL11RA
Congenital long QT syndrome ........................KCNQ1 ; KCNH2
Congenital nystagmus ........................................FRMD
Congential Adrenal Hyperplasia ...........................CYP21A2 / AGS
Craniofacial disorders ................................7p21; 5q35.2; 11p11.2
Cystic Fibrosis ...................................................CFTR
Deafness,Neurosensory ...................GJB; WFS1; PSPC1: ZNF198; LATS2; SGCG
Defensin DEF genes, .................................SPAG11, other 8p
Diabetes Melitus and Obesity ..............................PPARG
Diamond-Blackfan anemia (DBA) ...........CSMD1, MCPH1, ANGPT2 and AGPAT5.
DiGeorge/Velocardiofacial ...................................22q11
Distal spinal muscular atrophy .............................IGHMBP2
DPYD deficiency ...............................................DPYD
Duchenne/Becker .............................................DMD
Dyskeratosis congenita (DC) .........................TERT, DKC1
Dyslexia ................................DCDC2, KAAG1, KIAA0319, VMP, ROBO1, ROBO2
Ehlers-Danlos syndrome III & IV ..................TNXB, COL3A1,
Epilepsy KCNQ3, ...........................CHRNA4, EPM2A, EPM2B and CHRNB2
Fabry Disease ..................................................GLA
Faciogenital dysplasia, X-linked skeletal dysplasia ....FGD1
Factor IX Deficiency ...........................................F9
Familial Medditeranean Fever ..............................MEFV
Fanconi Anemia ............................................FANCD2-PALB2
Fanconi Anemia group A ....................................FANCA
Fanconi Anemia group B .....................................FANCB
Fragile sites ..................................................FHIT, WWOX
Fructose intolerance ..........................................ALDOB
Fumarase Deficiency ............................................FH
Gitelman syndrome ..........................................SLC12A3
GLUT1 deficiency syndrome ..............................SLC2A1
Glycine encephalopathy .....................................GLDC
Growth failure ..............................................GF1R, IGFBPS
Growth Hormone Deficiency ................GH1, PROP1, PIT1, GHRHR, HESX1
Growth hormone insensitivty ....................GHR, IGF, JAK2, STAT5B
Haemophilia A .................................................FVIII
Hereditary angioedema (HAE) ..........................SerpinG1
Hereditary spastic paraplegia .......................SPG3A ; SPG4
Hereditary spastic paraplegia ........................REEP1, SPG7
Hereditary spastic paraplegia region S..PAST; LOC84661; SLC30A6; TUBGCP5; NIPA2; NIPA1
Hirschsprung ........................................RET; GDNF; EDN3; ZFHX1B
Holopresencephaly ........................PTCH; SHH; SIX2; SIX3; TGIF; ZIC2
Hunter syndrome ..............................................IDS
Hypercholesterolemia (LDLR) ..............................LDLR
Hyperekplexia - Startle disease ...............GLRB, GLRA1 and SLC6A5
Hyperinsulinemic Hypoglcemia 1, familial (HHF1) .....ABCC8
Hyperlipoproteinemia type I ................................LPL
Hypertrophic cardiomyopathy ............................MYBPC3
Hypertrophic cardiomyopathy ............................TNNT2
Hypocalciuric hypercalcemia, familial .....................CASR
Ichthyosis, x-linked ...........................................STS
Intersex X, Y, ..............................NR0B1; SOX9; WNT4; CYP21A2; CYP21P
Kallmann-1 ................................................KAL; STS; OA1
Kallmann-2 ....................................FGFR1; GPR54;GNRH1; GNRHR; NELF
Langer-Giedion syndrome (LGS) .....................EXT1, EXT2
Leber congenital amaurosis (LCA) ............AIPL1, CRB1, CRX, RPE65
Leber congenital amaurosis (LCA) ..........CEP290, GUCY2D, RDH, RPGRIP1
Leukodystrophy ......................................LMNB1/PLP1/Notch3
Limb girdle muscular dystrophies ......................CAPN3
Limb malformations-1 .............................GLI3, HOXD13, ROR2
Limb malformations-2 / Heart ...................SALL1, SALL4, TBX5
LMNA (several syndromes) ...............................LMNA
LPAC syndrome (ABCB4 gene) .......................ABCB4
Macular Dystrophy .................................OPA, VMD2 and RDS
Marfan Syndrome ............................................FBN1
Menkes Disease ..............................................ATP7A
mHMGS deficiency ..........................................HMGCS2
Mitochondrial Diseases ................................Mitochondrial DNA
MODY .................................................HNF4A, GCK, TCF1 and TCF2.
Multiple endocrine neoplasia (MEN) ...................MEN1
Multiple osteochondromas ............................EXT1, EXT2
Myelodysplastic syndrome (MDS) .........Chromosomes 5, 7,8,11,12,17,20 & 21
Myoclonic epilepsy ...........................................SCN1A
Neurodegenerative disorders ............................MAPT
Neurometabolic disorders ..................MLC1, L2HGDH, D2HGDH, JLYCD, ASPA
Obesity ................................................LEP, LEPR, POMC, SIM1, MC4R
Obesity and Diabetes Melitus ............................PPARG
Ophthalmogenetic Anomalies ......................FOXL2 ; OA1 ; TWIST
OPITZ syndrome, x-linked ..................................MID1
Ornithine cabamoyltransferase ............................OTC
Osler-Weber-Rendu yndrome ....................ENG, ALK1 ; BMPR2
Osteogenesis imperfecta (OI) .....................COL1A1; COL1A2
Pancreatitis, chronic ...............................PRSS1, PRSS2, SPINK1
Parkinson (Familial) ...........................PARK2; LRRK2; PINK1; UCHL1; DJ1
Pelizaeus-Merzbacher Disease ...........................PLP1
Pendred .......................................................SLC26A4
Pituitary Adenoma Predisposition (PAP) / MEN ....MEN1; AIP
Primary ciliary dyskinesia (PCD) ...........................DNAH5
PROS1 deficienty .............................................PROS1
Pseudoxanthoma elasticum ................................ABCC6
Pyruvate kinase (PK) deficiency ......................PKLR; LMNA
Retinitis Pigmentosa ...................................RPE65; RP1; RHO
Retinitis Pigmentosa (RP) ....................RHO, IMPDH1, RP1 and PRPF31
Simpson-Golabi-Behmel syndrome .....................GPC3; GPC4
Spinal Muscular Atrophy (SMA) .........................SMN1; SMN2
Spinal Muscular Atrophy (SMA) .........................carrier SMN1
Stargardt macular dystrophy .................................ABCA4
Startle disease - Hyperekplexia ...................GLRB, GLRA1 and SLC6A5
Tay-Sachs disease ................................................HEXA
Thiopurine S-methyltransferase (TPMT) ............TPMT and DPYD
Trichorhinophalangeal syndrome type I ...................TRPS1
Tuberous sclerosis ................................................TSC2
Tuberous Sclerosis ................................................TSC1
Turner / Klinefelter / Triple X (Leri-Weill Syndrome) .SHOX / SHOX region
Typical hemolytic uremic syndrome (aHUS) ........CFH, MCP / CD46 and CFI
Waardenburg syndrome (WS) ..............................MITF and PAX3
Wilson disease ......................................................ATP7B
X-linked hypohidrotic ectodermal dysplasia .................ED1
X-linked hypophosphatemia ................................PHEX, FGF23
X-linked lymphoproliferative ...............................SH2D1A


B: Neurogenetics & Mental Reterdation


Syndrome&Diseases ..............................Genes or Chromosomal Areas

Atypical RETT syndrome, RETT (like) syndrome .....NTNG1; CDKL5; ARX
Canavan ................................................................ASPA
Coffin-Lowry syndrome .....................................RPS6KA3 and PQBP1
Cornelia de Lange syndrome .....................................NIPBL
Creatine transporter, X-linked ....................................SLC6A8
Dandy-Walker Malformation ...............................ZIC1, ZIC4 and VLDLR
Langer-Giedion syndrome ..........................................TRPS1
Lissencenphaly .......................................PAFAH1B1 ; DCX ; FLNA ; POMGnT1 ; POMT1
Mental retardation syndromes 1 .........................07q11.23; 17p11; 17p13
Mental retardation syndromes 2 ...............................4p, 5p, 11p, 8p
Mental retardation, X-linked ..................................DCX; ARX; 9 other genes
Monosomy ...........................................................1p36 01p36.33
Monosomy .............................................................22q13 22q13
Phenylketonuria (PAH) ................................................PAH
Prader Willi / Angelman syndrome ..........................PWS/AS critical region
RETT Syndrome ........................................................MECP2
Rubinstein –Taybi Syndrome CREBBP and three probes for ...EP300
Sotos Syndrome .........................................................NSD1
Williams-Beuren Syndrome .............................................ELN



C: Hereditary cancer


Syndrome&Diseases ....................................Genes or Chromosomal Areas


Ataxia telangiectasia .........................................................ATM
Birt-Hogg-Dube syndrome .................................................FLCN
Breast cancer BRCA1 (confirmation) ...................................BRCA1
Breast cancer BRCA2 .......................................................BRCA2
Breast cancer BRCA2 + CHEK2 ....................................BRCA2, CHEK2
Breast cancer BRIP1-CHEK1 ........................................BRIP1, CHEK1
Breast cancer susceptibility .....................CHEK2; ATM; BRCA1&2; PTEN; XBP1; TP53
Colon cancer (polyposis) ...................................................APC
Colon cancers (HNPCC) ........................................MLH1 / MSH2 MSH2; MLH1
Colon cancers (HNPCC) ..................................MSH6 / PMS2 MSH6; PMS2; MUTYH
Fanconi Anemia ..........................................................FANCD2-PALB2
Fanconi Anemia group A ....................................................FANCA
Fanconi Anemia group B ....................................................FANCB
Gorlin syndrome ................................................................PTCH
Juvenile polyposis syndrome ......................................BMPR1A, SMAD4, PTEN
Li-Fraumeni Syndrome ........................................................TP53
Metastasis .........................................................................CDH1
Multiple endocrine neoplasia .................................................MEN1
Neurofibromatosis type 1...................................................NF1 area
Neurofibromatosis type 1 .....................................................NF1
Neurofibromatosis type 2 .....................................................NF2
Peutz-Jeghers Syndrome ....................................................STK11
Pituitary Adenoma Predisposition (PAP) ...........................MEN MEN1; AIP
Retinoblastoma ..................................................................RB1
Tuberous Sclerosis .............................................................TSC1
Tuberous sclerosis ..............................................................TSC2
Various types of tumors ............................................9p21 / CDKN2A / CDKN2B
Von Hippel-Lindau Syndrome ................................................VHL
Wilms tumor .......................................................................WT1 



                                    (Modified: from MLPA&Holand)