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| Genetic Disorders by Chromosome | ||||
|---|---|---|---|---|
| Chromosome | Gene / Mutation Info | Protein | Disease | Inheritance / Notes |
| Chromosome 1 | GBA | Glucocerebrosidase | Gaucher Disease | A-Recessive |
| Chromosome 1 | LDLR | LDL Receptor | Familial Hypercholesterolemia | A-Dominant |
| Chromosome 1 | MPZ | Myelin Protein Zero | Charcot-Marie-Tooth Disease Type 1B | A-Dominant |
| Chromosome 2 | ||||
| Chromosome 2 | ALMS1 | – | Alström Syndrome | A-Recessive |
| Chromosome 2 | TBX5 | – | Holt-Oram Syndrome | A-Dominant |
| Chromosome 3 | ||||
| Chromosome 3 | VHL | Von Hippel-Lindau protein | Von Hippel-Lindau Syndrome | A-Dominant |
| Chromosome 4 | ||||
| Chromosome 4 | HTT | Huntingtin | Huntington's Disease | A-Dominant |
| Chromosome 4 | FGFR3 | Fibroblast Growth Factor Receptor 3 | Achondroplasia | A-Dominant |
| Chromosome 4 | Microdeletion at 4p16.3 | – | Wolf-Hirschhorn Syndrome | Chromosomal Deletion |
| Chromosome 4 | PKD2 | Polycystin-2 | Polycystic Kidney Disease Type 2 | A-Dominant |
| Chromosome 5 | ||||
| Chromosome 5 | APC | Adenomatous Polyposis Coli protein | Familial Adenomatous Polyposis | A-Dominant |
| Chromosome 5 | SMN1 | Survival Motor Neuron 1 | Spinal muscular atrophy | A-Recessive |
| Chromosome 5 | Deletion at 5p15.2 | – | Cri-du-chat Syndrome | Chromosomal Deletion |
| Chromosome 6 | ||||
| Chromosome 6 | HFE | HFE protein | Hemochromatosis | A-Recessive |
| Chromosome 6 | BCKDHB | Branched Chain Ketoacid Dehydrogenase E1 Beta Subunit | Maple Syrup Urine Disease | A-Recessive |
| Chromosome 7 | ||||
| Chromosome 7 | CFTR | Cystic Fibrosis Transmembrane Conductance Regulator | Cystic Fibrosis | A-Recessive |
| Chromosome 7 | Microdeletion at 7q11.23, ELN | Elastin | Williams Syndrome | Chromosomal Deletion |
| Chromosome 7 | DHCR7 | 7-Dehydrocholesterol Reductase | Smith-Lemli-Opitz Syndrome | A-Recessive |
| Chromosome 8 | ||||
| Chromosome 8 | WRN | Werner protein | Werner Syndrome | A-Recessive |
| Chromosome 8 | MYC gene translocation | MYC protein | Burkitt Lymphoma | Somatic Mutation |
| Chromosome 9 | ||||
| Chromosome 9 | FXN | Frataxin | Friedreich ataxia | A-Recessive |
| Chromosome 9 | TSC1 | Hamartin | Tuberous Sclerosis | A-Dominant |
| Chromosome 9 | CDKN2A | p16/INK4a | Familial melanoma, pancreatic cancer | A-Dominant |
| Chromosome 9 | IKBKAP | Elongator complex protein 1 | Familial Dysautonomia | A-Recessive |
| Chromosome 10 | ||||
| Chromosome 10 | PTEN | Phosphatase and Tensin Homolog | Cowden Syndrome | A-Dominant |
| Chromosome 10 | RET | Ret proto-oncogene | MEN Type 2 | A-Dominant |
| Chromosome 11 | ||||
| Chromosome 11 | HBB | Hemoglobin subunit beta | Sickle Cell Disease | A-Recessive |
| Chromosome 11 | WT1 | Wilms Tumor Protein | Wilms Tumor | Sporadic or A-Dominant |
| Chromosome 11 | Imprinting defect at 11p15 | – | Beckwith-Wiedemann Syndrome | Imprinting Disorder |
| Chromosome 12 | ||||
| Chromosome 12 | PAH | Phenylalanine Hydroxylase | Phenylketonuria | A-Recessive |
| Chromosome 12 | PTPN11 | Protein Tyrosine Phosphatase, Non-Receptor Type 11 | Noonan Syndrome | A-Dominant |
| Chromosome 13 | ||||
| Chromosome 13 | RB1 | Retinoblastoma protein | Retinoblastoma | A-Dominant |
| Chromosome 13 | Trisomy 13 | – | Patau Syndrome | Trisomy |
| Chromosome 13 | ATP7B | ATPase Copper Transporting Beta | Wilson Disease | A-Recessive |
| Chromosome 14 | ||||
| Chromosome 14 | PSEN1 | Presenilin-1 | Early-Onset Alzheimer’s | A-Dominant |
| Chromosome 14 | DMPK | Dystrophia Myotonica Protein Kinase | Congenital Myotonic Dystrophy | A-Dominant |
| Chromosome 15 | ||||
| Chromosome 15 | 15q11-q13 paternal del / UPD | – | Prader-Willi Syndrome | Imprinting Disorder |
| Chromosome 15 | 15q11-q13 maternal del / UPD, UBE3A | Ubiquitin Protein Ligase E3A | Angelman Syndrome | Imprinting Disorder |
| Chromosome 15 | FBN1 | Fibrillin-1 | Marfan Syndrome | A-Dominant |
| Chromosome 15 | HEXA | Hexosaminidase A | Tay-Sachs Disease | A-Recessive |
| Chromosome 16 | ||||
| Chromosome 16 | PKD1 | Polycystin-1 | PKD Type 1 | A-Dominant |
| Chromosome 16 | CREBBP | CREB Binding Protein | Rubinstein-Taybi Syndrome | A-Dominant |
| Chromosome 17 | ||||
| Chromosome 17 | NF1 | Neurofibromin 1 | NF1 | A-Dominant |
| Chromosome 17 | PMP22 deletion | Peripheral Myelin Protein 22 | HNPP | A-Dominant |
| Chromosome 17 | PMP22 duplication at 17p12 | Peripheral Myelin Protein 22 | Charcot-Marie-Tooth disease Type 1A | A-Dominant |
| Chromosome 17 | NF1 at 17q11.2 | Neurofibromin 1 | Neurofibromatosis Type 1 | A-Dominant |
| Chromosome 17 | TP53 | Tumor Protein p53 | Li-Fraumeni syndrome | A-Dominant |
| Chromosome 17 | BRCA1 | Breast Cancer Type 1 Susceptibility Protein | Hereditary breast and ovarian cancer | A-Dominant |
| Chromosome 17 | ASPA | Aspartoacylase | Canavan Disease | A-Recessive |
| Chromosome 18 | ||||
| Chromosome 18 | Trisomy 18 | – | Edwards Syndrome | Trisomy |
| Chromosome 18 | STK11 | Serine/Threonine Kinase 11 | Peutz-Jeghers Syndrome | A-Dominant |
| Chromosome 19 | ||||
| Chromosome 19 | LDLR | LDL Receptor | Familial Hypercholesterolemia | A-Dominant |
| Chromosome 19 | DMPK | Dystrophia Myotonica Protein Kinase | Myotonic Dystrophy Type 1 | A-Dominant |
| Chromosome 20 | ||||
| Chromosome 20 | FGFR2 | Fibroblast Growth Factor Receptor 2 | Apert Syndrome | A-Dominant |
| Chromosome 20 | MITF | Microphthalmia-associated Transcription Factor | Waardenburg Syndrome Type 2A | A-Dominant |
| Chromosome 21 | ||||
| Chromosome 21 | Trisomy 21 | – | Down Syndrome | Trisomy |
| Chromosome 21 | APP | Amyloid beta A4 protein | Early-onset Alzheimer's disease | A-Dominant |
| Chromosome 21 | SOD1 | Superoxide Dismutase 1 | ALS | A-Dominant |
| Chromosome 22 | ||||
| Chromosome 22 | 22q11.2 | – | DiGeorge Syndrome | Chromosomal Deletion |
| Chromosome 22 | NF2 | Merlin | NF2 | A-Dominant |
| X | ||||
| X | FMR1 | Fragile X Mental Retardation Protein 1 | Fragile X Syndrome | X-linked Dominant |
| X | DMD | Dystrophin | Duchenne Muscular Dystrophy | X-linked Recessive |
| X | F8 | Coagulation Factor VIII | Hemophilia A | X-linked Recessive |
| X | F9 | Coagulation Factor IX | Hemophilia B | X-linked Recessive |
| X | OPN1LW, OPN1MW, OPN1SW | Opsins (L, M, S) | Color Blindness | X-linked Recessive |
| X | MECP2 | Methyl CpG Binding Protein 2 | Rett Syndrome | X-linked Dominant |
| X | Missing or partial X | – | Turner Syndrome | Monosomy X |
| X | GLA | Alpha-Galactosidase A | Fabry Disease | X-linked Recessive |
| X | OTC | Ornithine Transcarbamylase | OTC Deficiency | X-linked Recessive |
| X | ABCD1 | ATP-binding cassette sub-family D member 1 | Adrenoleukodystrophy | X-linked Recessive |
| Y | ||||
| Y | Various genes | – | Male infertility | Y-linked |
| Y | SRY mutation or deletion | Sex-determining Region Y protein | Swyer Syndrome | Y-linked Disorder |
| Miscellaneous | ||||
| – | 47,XXY | – | Klinefelter Syndrome | XXY (Sex Chromosome Aneuploidy) |
| – | 47,XXX | – | Triple X Syndrome | XXX (Sex Chromosome Aneuploidy) |
| – | 47,XYY | – | XYY Syndrome | XYY (Sex Chromosome Aneuploidy) |
| – | Partial deletion of 11q | – | Jacobsen Syndrome | Chromosomal Deletion |
| – | t(15;17) | PML-RARA | Acute Promyelocytic Leukemia | Promyelocytic leukemia (PML) & Retinoic acid receptor alpha (RARA) fusion RARα: nuclear receptor involved in myeloid differentiatio |
| – | t(8;14) | MYC-Ig Heavy chain | Burkitt Lymphoma | MYC: transcription factor regulating cell growth IGH: immunoglobulin heavy chain (high expression in B cells) |
| – | t(9;22, Ph+) | BCR-ABL | Chronic Myeloid Leukemia | Somatic Translocation |
| – | t(11;14) | Cyclin D1-Ig Heavy Chain | Mantle cell lymphoma | Cyclin D1 overexpression → cell cycle progression |
| – | t(11;22) | EWSR1-FLI1 | Ewing Sarcoma | Diaphysis, young white men Lamellated periosteal reaction ("onion skinning") Poorly defined lytic lesion with "moth-eaten" appearance Sheets of small, round, blue tumor cells |
| – | COL5A1, COL5A2, COL3A1 | Various Collagens | Ehlers-Danlos Syndrome | Varies (often A-Dominant) |
| – | COL1A1, COL1A2 | Type I Collagen | Osteogenesis Imperfecta | A-Dominant |
| – | CYP21A2 (chr6) | 21-Hydroxylase | CAH | A-Recessive |
| — | TERT | Telomerase Reverse Transcriptase | Various cancers (e.g. melanoma, glioma) | Somatic Mutation |
| — | ATP7A | Menkes protein | Menkes diesease | X-linked recessive connective tissue disease caused by impaired copper absorption and transport ATP7A (Absent copper), vs ATP7B in Wilson disease (copper Buildup) |
| — | MEFV | – | Familial Mediterranean Fever | A-Recessive |
| — | TSC2 | Tuberin | Tuberous Sclerosis | A-Dominant |
| — | HGD | Homogentisate 1,2-Dioxygenase | Alkaptonuria | A-Recessive |
| — | PTCH1 | – | Basal cell carcinoma | – |
| — | UL-97 | Viral kinase | CMV resistance to ganciclovir | Viral Mutation |
| — | SHOX | – | Turner syndrome | Pseudoautosomal |
| — | TTN | Titin | Dilated cardiomyopathy | A-Dominant |
| — | WAS | Wiskott-Aldrich Syndrome Protein | Wiskott-Aldrich Syndrome | X-linked Recessive |
| — | HOX | Homeobox proteins | Developmental anomalies | Varies |
| — | FOXP3 | – | IPEX syndrome | X-linked Recessive |
| — | RAG | Recombination Activating | SCID (Omenn syndrome) | A-Recessive |
| — | NOD2 | – | Crohn disease | Polygenic |
| — | MTHFR | Methylenetetrahydrofolate reductase | Hyperhomocysteinemia | A-Recessive |
| — | SERPINA1 | Alpha-1 antitrypsin | Alpha-1 antitrypsin deficiency | A-Codominant |
| — | WT1 deletion | – | WAGR syndrome | Chromosomal Deletion |
| — | WT1 mutation | – | Denys-Drash syndrome | A-Dominant |
| — | CD40LG | CD40 Ligand | Hyper IgM syndrome | X-linked Recessive |
| — | STAT3 | Signal Transducer and Activator of Transcription 3 | Hyper-IgE syndrome (Job syndrome) | A-Dominant |
| — | FLG | Filaggrin | Atopic dermatitis, Ichthyosis vulgaris | A-Dominant |
| — | PTPN22 | Protein Tyrosine Phosphatase, Non-Receptor Type 22 | Autoimmune diseases (e.g. RA, T1DM) | Polygenic |
| — | DCC | Deleted in Colorectal Cancer protein | Colorectal cancer progression | Somatic Mutation |
| — | PAX | Paired box proteins | Eye, renal, CNS malformations | A-Dominant |
| — | MGMT | O6-methylguanine-DNA methyltransferase | Glioblastoma resistance to alkylating agents | Somatic/Sporadic |
| — | KIT | c-Kit (CD117) | Gastrointestinal stromal tumors | Somatic Mutation |
| — | KCNQ1 | Potassium Voltage-Gated Channel Subfamily Q Member 1 | Long QT syndrome type 1 | A-Dominant |