Genetic Diseases Involved with Pathiobiology of Aging

There are a number of genetic diseases, enzymes and genes which seem to be involved in aging. Progeria and Werner Syndrome show characteristics of accelerated aging. Xeroderma Pigmentosum and Cockayne syndrome show defects in the nucleotide exicision repair pathway for DNA damage, particularly that caused by ultraviolet radiation. Other diseases such as Ataxia-Telangiectasia and Bloom syndrome show increased cancer rates usually because of excessive sensitivity to chromsome breakage. Pointers to the references from the Online Mendelian Inheritance of Man (OMIM) are as follows:

1. Autosomal Dominant

2. Autosomal Recessives

3.Intrinsic Mutagenesis" Hypothesis of Aging

4.Increased Frequencies of Nonconstitutional Chromosomal Aberrations.

5. Characterized by an Increased Susceptibility to One or More Types of Neoplasms

  • ** Adrenoleukodystrophy; ALD [300100]
  • Adenomatous Poliposis of the Colon; APC [175100]
  • * Anal Canal Carcinoma [105580]
  • * Anemia, Congenital Hypoplastic, of Blackfan and Diamond
  • ! Aryl Hydrocarbon Hydroxylase Inducibility [108340]
  • Ataxia-Telangiectasia (Groups AB&E); AT (11q22.3) [208900]
  • * Ataxia-Telangiectasia (Group D); ATDC [208905]
  • * B-Cell Malignacy, Low Grade [109543]
  • * Beckwith-Wiedemann Syndrome; BWS [130650]
  • * Berlin Breakage Syndrome [600885]
  • Bloom Syndrome; BLM [210900]
  • * Breast Cancer, Ductal, 1; BRCD1 [211410]
  • * Bruton Agammaglobulinemia Tyrosine Kinase; BTK, X-linked [300300]
  • Cancer of Colon [114500]
  • * Cancer, Hepatocellular [114550]
  • * Cancer of Lung [211980]
  • * Colon Cancer, Familial, Nonpollyposis [120435]
  • * Dubowitz Syndrome [223370]
  • * Dyskeratosis Congenita; DKC, X-linked recessive [305000]
  • Ewings Sarcoma; ES; EWS [133450]
  • Fanconi Pancytopenia, Type 2; HUMFA [227660]
  • ** Fanconi-like Syndrome [227850]
  • Fibrocystic Pulmonary Dysplasia [135000]
  • * Fragile Site, Folic Acid Type, Rare, FRA(X)(q27.3); FRAXA [309550]
  • * Glioma of Brain [137800] (vs. recessive)
  • * Gonadal Dysgenesis, XY Female Type; GDXY, X-linked [306100]
  • ? Hashimoto Struma [140300]
  • Hemochromatosis; HFE [235200]
  • * Hypernephroma [144700]
  • * Immunodeficiency, X-linked Progressive Combined Variable [308240]
  • Leiomyomata, Hereditary Multiple, of skin [150800]
  • * Leukemia, Chronic Myeloid; CML [151410]
  • * Li-Fraumeni Syndrome; LFS [151623]
  • * Leukemia, Chronic Lymphatic, Type 2 [151430]
  • * Leukemia, Acute T-Cell; ATL [151390]
  • * Melanoma, Malignant [155600]
  • !* Mixed Polyposis Syndrome, Hereditary [601228]
  • * Microcephaly With Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies [251260]
  • * Muir-Torre Syndrome [158320]
  • * Neurofibromatosis, Type I; NF1 [162200]
  • * Neuroblastoma; NB [256700]
  • Noonan Syndrome; NS1, Male Turner Syndrome [163950]
  • Paragangliomata; PGL [168000]
  • * Pheochromocytoma and Amyloid-Producing Medullary Thyroid Carcinoma [171400]
  • Poroceratosis of Mibelli [175800]
  • * Polyposis Coli, Juvenile Type [174900]
  • * Polyposis, Generalized Juvenile, with Pulmonary Arteriovenous Malformation [175050]
  • Polyposis, Hamartomatous Intestinal [175200]
  • !* Proteus Syndrome [176920]
  • * Pulmonary Fibrosis, Idiopathic; Hamman-Rich Disease [178500]
  • !* Renal Cell Carcinoma, Papillary, X-linked [312390]
  • !* Retinoblastoma; RB1 [180200]
  • * Rhabdomyosarcoma-1; RMS1 [268210]
  • * Rothmund-Thomson Syndrome; RTS [268400]
  • ** Seborrheic Keratoses [182000]
  • * Small-Cell Cancer of the Lung; SCCL [182280]
  • !* T-Cell Acute Lymphoblastic Leukemia-2; TAL2 [186855]
  • * Testicular Tumors [273300]
  • Trisomy 21, Down Syndrome [190685]
  • Thrombocythemia, Essential [187950]
  • * Tuberous Sclerosis-2; TSC2 [191092]
  • * V-Kit Hardy-Zuckerman 4 Feline Sarcoma, Viral Oncogene Homolog; KIT [164920]
  • * V-Fes Feline Sarcoma Viral/V-FPS Fujinami Avian Sarcoma Viral Oncogene Homolog; FES [190030]
  • * Waardenburg Syndrome; WS1 [193500]
  • Werner Syndrome; WRN [277700]
  • Wilms Tumor; WT1 [194070]
  • * Wilskott-Aldrich Syndrome; WAS, X-linked, [301000]
  • Xeroderma Pigmentosum (mild form) [194400]
  • Xeroderma Pigmentosum I, Group A; XPAC (9q34.1) [278700]
  • Xeroderma Pigmentosum II, Group B; XP-B/ERCC6 [278710](unavailable)
  • Xeroderma Pigmentosum III,Complementation Group C; XPC (3p25) [278720]
  • * Xeroderma Pigmentosum IV, Group D; XP4 [278730]
  • * Xeroderma Pigmentosum V, Group E; XP5/XPE [278740]
  • * Xeroderma Pigmentosum VI, Group F; XP6/XPF [278760]
  • * Xeroderma Pigmentosum VII, Group G; XPG/ERCC5 [278780]
  • * Xeroderma Pigmentosum with normal DNA repair rates [278750]
  • * Xeroderma Idiocy of De Sanctis; XPD [278800]

    • 6.Genetic Syndromes Characterized by Premature Graying or Loss of Hair or Both.

    7.Sex-linked:

    8.There is the Possibility of Defect in a Stem-Cell Population or in the Kinetics of Stem-Cell Proliferation.

    9.By Dementia or Certain Types of Relevant Degenerative Neuropatology, or Bouth

  • * Acricallosal Syndrome; ACLS [200990]
  • Adie Syndrome [103100]
  • * Adrenoleukodystrophy; ALD, X-linked [300100]
  • * Alzheimer Disease; AD [104300]
  • * Alzheimer Disease, Familial, type 3; AD3 [104311]
  • !* Angelman Syndrome; AS [105830]
  • * Aspartylglycosaminuria [208400]
  • !* Cat Ere Syndrome; CES [115470]
  • * Cerebral Calcification, Nonarteriosclerotic, Fahr Disease [213600]
  • * Ceroid-Lipofuscinosis, Neuronal 3, Juvenile; CLN3 [204200]
  • * Charcot-Marie-Tooth Disease 1B; CMT1B, X-linked [118200]
  • * Choroideremia; CHM, X-linked [303100]
  • * Chondrodysplasia Punctata, X-linked Recessive; CPXR; CDPX1 [302950]
  • * Citrullinuria [215700]
  • * Clasped Thumb and Mental Retardation, X-linked [303350]
  • Cockaynes's Syndrome, Type 1; CKN1 (Chr 5) [216400]
  • Cockayne Syndrome, Type 3 [216411]
  • * Cornelia De Lange Syndrome; CDL [122470]
  • * Corpus Callosum, Agenesis of, with Chorioretinal Abnormality, X-linked [304050]
  • *! Cri-Du-Chat Syndrome [123450]
  • * Deafness 1, Progressive; DFN1, X-linked [304700]
  • * Deafness, Conductive, With Stapes Fixation, X-linked [304400]
  • * Dubowitz Syndrome [223370]
  • * Dystrophia Myotonica; DM [160900]
  • * Dyskeratosis Congenita; DKC, X-linked recessive [305000]
  • * Ectodermal Dysplasia, Anhidrotic; EDA, X-linked [305100]
  • * Fanconi Anemia, Complementation Group A; FACA [227650]
  • * Fanconi Anemia, Complimentation Group C; FACC [227645]
  • * Fanconi Anemia, Complementation Group E [600901]
  • * Fanconi Pancytopenia, Complimentation Group D [227646]
  • * FG Syndrome, X-linked [305450]
  • * Fragile Site, Folic Acid Type, Rare, FRA(X)(q27.3); FRAXA, X-linked [309550]
  • * Fryns Syndrome; FRNS [229850]
  • * Glycinemia, Ketotic, I [232000]
  • * Hemoglobin H-related Mental Retardation; HBHR [141750]
  • * Hisdidinemia [235800]
  • * Huntington Disease; HD [143100]
  • Hydrocephalus Due to Congential Stenosis of Aqueduct of Sylvius; HSAS1; HSAS; HYCX [307000]
  • * Hyperglycerolemia, X-linked [307030]
  • * Hypoxantine Guanine Phosphoribosyltransferase 1; HPRT1, X-linked [308000]
  • * Hypomelanosis of ITO; HMI (also heterogeneous) [146150]
  • * Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity of Limbs [308050]
  • * Immune Deficiency, Variable, With Centromeric Instability of Chromosomes 1,9 and 16 [242860]
  • * Infantile Spasms, X-linked [308350]
  • * Johanson-Blizzard Syndrome; JBS [243800]
  • * Langer-Giedion Syndrome; LGS [150230]
  • * Laurence-Moon Syndrome [245800]
  • * Lissencephaly Syndrome [247200]
  • * Maple Syrup Urine Disease, Type IB [248611]
  • * Mcdonough Syndrome [248950]
  • * Menkes Syndrome, X-linked, recessive [309400]
  • * Mental Retardation, X-linked, Renpenning Type [309500]
  • * Mental Retardation, X-linked, Snyder-Robinson Type [309583]
  • * Mental Retardation, X-linked, With Hypotonia [309600]
  • !* Microphthalmia, X-linked [309700]
  • * Monosomy 9p-Syndrome [158170]
  • * Mucopolysaccharidosis Type II; MPS II; MPS2, X-linked [309900]
  • * Mucopolysaccharidosis Type I; MPS I [252800]
  • * Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne and Becker Types; DMD, X-linked [310200]
  • * Neurofibromatosis, Type I; NF1 [162200]
  • * Niemann-Pick Disease; NPD [257200]
  • * Norrie Disease; NDP, X-linked, [310600]
  • * ! Nondisjunction [257300]
  • * Optic Atrophy--Spastic Paraplegia Syndrome, X-linked, [311100]
  • * Optic Atrophy, Non-leber Type, with Early Onset; OPA2, X-linked [311050]
  • * Pachygyria With Mental Retardatioin and Seizures [600176]
  • Parkinsonism [168600]
  • * Parietal Foramina, Symmetric; PFM [168500]
  • * Phenylketonuria; PKU1 [261600]
  • * Porphyria, Acute Intermittent; AIP [176000]
  • * ! Prader-Willi Syndrome; PWS [176270]
  • * Oral-Facial-Digital Syndrome Type I, X-linked [311200]
  • * Rett Syndrome; RTT, X-linked dominant [312750]
  • * Rubinstein Syndrome [180849]
  • * Sandhoff Disease [268800]
  • * Spastic Paraplegia, X-linked, Complicated, [312900]
  • * Spastic Athetotic Paraplegia, X-linked [312890]
  • * Stature; STA; Tooth Size; TS; TSY, Y-linked [475000]
  • * Tay-Sachs Disease; TSD [272800]
  • * Tuberous Sclerosis-2; TSC2 [191092]
  • * Tyrosine Transaminase Deficiency [276600]
  • * Vitiligo, Progressive, With Mental Retardation and Urethral Duplication [277465]
  • * Wilms Tumor; WT1 [194070]
  • *! Wagr Syndrome [194072]
  • * Williams-Beuren Syndrome; WBS [194050]
  • * Wilson Disease; WND [277900]
  • Xeroderma Pigmentosum I, Group A; XPAC (9q34.1) [278700]

    • 10.Chromosomal Aneuploidies

    Genetic Syndromes Characterized by Osteoporosis

    Genetic Immunodefficiency

    Genetic Syndromes Characterized by a Disorder of Lipid Metabolism

  • * Cocayne Syndrome, Type I; CKN1 [216400]
  • Hypercholesterolemia, Familial; FHC [143890]
  • * Apolipoprotein C-II Deficiency, Type I Hyperlipoproteinemia Due To [2007750]
  • * Glycogen Storage Disease VIII, X-linked [306000]
  • * Glycinemia, Ketotic, I [232000]
  • * Niemann-Pick Disease; NPD [257200]

    • ! Mode of inheritance not to be certain.
    * These diseases was added by myself.
    ** It means I couldn't find any evidences and I am not sure that this disease must be in the group, [except for G.M. Martin's Classification].
    ? This aspect of phenotype is questionable.

    Author: Olga Kochkina Email: okochkina@ilr.genebee.msu.su
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