Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   ataxia-telangiectasia
  

Disease ID 258
Disease ataxia-telangiectasia
Definition
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Synonym
at
at, complementation group a
at, complementation group c
at, complementation group d
at, complementation group e
at1
ataxia telangiectasia
ataxia telangiectasia (atm)
ataxia telangiectasia [disease/finding]
ataxia telangiectasia syndrome
ataxia, telangiectasia
ataxia-telangiectasia syndrome
ataxia-telangiectasia syndrome (disorder)
atc
atd
ate
atm
louis bar syndrome
louis-bar syndrome
syndrome, ataxia telangiectasia
syndrome, louis-bar
telangiectasia, cerebello-oculocutaneous
Orphanet
OMIM
DOID
UMLS
C0004135
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
SLC33A1  |  9197  |  OMIM
ATM  |  472  |  CLINVAR;GHR;ORPHANET;OMIM;UNIPROT;CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
472  |  ATM  |  infer
629  |  CFB  |  infer
3075  |  CFH  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:248)
4257  |  MGST1  |  DISEASES
4792  |  NFKBIA  |  DISEASES
973  |  CD79A  |  DISEASES
23064  |  SETX  |  DISEASES
6198  |  RPS6KB1  |  DISEASES
3558  |  IL2  |  DISEASES
57379  |  AICDA  |  DISEASES
80329  |  ULBP1  |  DISEASES
1432  |  MAPK14  |  DISEASES
4292  |  MLH1  |  DISEASES
4436  |  MSH2  |  DISEASES
6697  |  SPR  |  DISEASES
8317  |  CDC7  |  DISEASES
8161  |  COIL  |  DISEASES
7374  |  UNG  |  DISEASES
1026  |  CDKN1A  |  DISEASES
6310  |  ATXN1  |  DISEASES
6691  |  SPINK2  |  DISEASES
891  |  CCNB1  |  DISEASES
23416  |  KCNH3  |  DISEASES
3364  |  HUS1  |  DISEASES
6426  |  SRSF1  |  DISEASES
7274  |  TTPA  |  DISEASES
9585  |  KIF20B  |  DISEASES
11073  |  TOPBP1  |  DISEASES
5700  |  PSMC1  |  DISEASES
4001  |  LMNB1  |  DISEASES
9891  |  NUAK1  |  DISEASES
2196  |  FAT2  |  DISEASES
55011  |  PIH1D1  |  DISEASES
6416  |  MAP2K4  |  DISEASES
7515  |  XRCC1  |  DISEASES
3978  |  LIG1  |  DISEASES
867  |  CBL  |  DISEASES
55247  |  NEIL3  |  DISEASES
9759  |  HDAC4  |  DISEASES
64374  |  SIL1  |  DISEASES
10111  |  RAD50  |  DISEASES
4683  |  NBN  |  DISEASES
4885  |  NPTX2  |  DISEASES
1119  |  CHKA  |  DISEASES
10926  |  DBF4  |  DISEASES
38  |  ACAT1  |  DISEASES
55089  |  SLC38A4  |  DISEASES
1017  |  CDK2  |  DISEASES
3480  |  IGF1R  |  DISEASES
3073  |  HEXA  |  DISEASES
5428  |  POLG  |  DISEASES
90381  |  TICRR  |  DISEASES
7157  |  TP53  |  DISEASES
207  |  AKT1  |  DISEASES
10262  |  SF3B4  |  DISEASES
7013  |  TERF1  |  DISEASES
79780  |  CCDC82  |  DISEASES
4863  |  NPAT  |  DISEASES
472  |  ATM  |  DISEASES
2893  |  GRIA4  |  DISEASES
7070  |  THY1  |  DISEASES
2177  |  FANCD2  |  DISEASES
2176  |  FANCC  |  DISEASES
8365  |  HIST1H4H  |  DISEASES
27349  |  MCAT  |  DISEASES
50852  |  TRAT1  |  DISEASES
22824  |  HSPA4L  |  DISEASES
6228  |  RPS23  |  DISEASES
65268  |  WNK2  |  DISEASES
120114  |  FAT3  |  DISEASES
7486  |  WRN  |  DISEASES
3251  |  HPRT1  |  DISEASES
5702  |  PSMC3  |  DISEASES
23300  |  ATMIN  |  DISEASES
4314  |  MMP3  |  DISEASES
3479  |  IGF1  |  DISEASES
993  |  CDC25A  |  DISEASES
3667  |  IRS1  |  DISEASES
7386  |  UQCRFS1  |  DISEASES
57099  |  AVEN  |  DISEASES
3354  |  HTR1E  |  DISEASES
836  |  CASP3  |  DISEASES
5883  |  RAD9A  |  DISEASES
9943  |  OXSR1  |  DISEASES
55929  |  DMAP1  |  DISEASES
63967  |  CLSPN  |  DISEASES
5591  |  PRKDC  |  DISEASES
55236  |  UBA6  |  DISEASES
1662  |  DDX10  |  DISEASES
163  |  AP2B1  |  DISEASES
25988  |  HINFP  |  DISEASES
4684  |  NCAM1  |  DISEASES
6210  |  RPS15A  |  DISEASES
10992  |  SF3B2  |  DISEASES
165918  |  RNF168  |  DISEASES
1730  |  DIAPH2  |  DISEASES
7156  |  TOP3A  |  DISEASES
995  |  CDC25C  |  DISEASES
5932  |  RBBP8  |  DISEASES
84126  |  ATRIP  |  DISEASES
11284  |  PNKP  |  DISEASES
6794  |  STK11  |  DISEASES
84875  |  PARP10  |  DISEASES
29933  |  GPR132  |  DISEASES
6667  |  SP1  |  DISEASES
8338  |  HIST2H2AC  |  DISEASES
5727  |  PTCH1  |  DISEASES
286410  |  ATP11C  |  DISEASES
342865  |  VSTM2B  |  DISEASES
5501  |  PPP1CC  |  DISEASES
25788  |  RAD54B  |  DISEASES
55775  |  TDP1  |  DISEASES
7204  |  TRIO  |  DISEASES
10524  |  KAT5  |  DISEASES
1978  |  EIF4EBP1  |  DISEASES
3010  |  HIST1H1T  |  DISEASES
7818  |  DAP3  |  DISEASES
7518  |  XRCC4  |  DISEASES
9031  |  BAZ1B  |  DISEASES
23650  |  TRIM29  |  DISEASES
9623  |  TCL1B  |  DISEASES
8360  |  HIST1H4D  |  DISEASES
6919  |  TCEA2  |  DISEASES
545  |  ATR  |  DISEASES
467  |  ATF3  |  DISEASES
3005  |  H1F0  |  DISEASES
1869  |  E2F1  |  DISEASES
8294  |  HIST1H4I  |  DISEASES
8363  |  HIST1H4J  |  DISEASES
9745  |  ZNF536  |  DISEASES
8368  |  HIST1H4L  |  DISEASES
4649  |  MYO9A  |  DISEASES
79840  |  NHEJ1  |  DISEASES
3981  |  LIG4  |  DISEASES
8362  |  HIST1H4K  |  DISEASES
121504  |  HIST4H4  |  DISEASES
5893  |  RAD52  |  DISEASES
2547  |  XRCC6  |  DISEASES
7516  |  XRCC2  |  DISEASES
8359  |  HIST1H4A  |  DISEASES
773  |  CACNA1A  |  DISEASES
4638  |  MYLK  |  DISEASES
5599  |  MAPK8  |  DISEASES
8367  |  HIST1H4E  |  DISEASES
2993  |  GYPA  |  DISEASES
7150  |  TOP1  |  DISEASES
2475  |  MTOR  |  DISEASES
916  |  CD3E  |  DISEASES
4508  |  MT-ATP6  |  DISEASES
1813  |  DRD2  |  DISEASES
4515  |  MTCP1  |  DISEASES
55157  |  DARS2  |  DISEASES
10638  |  SPHAR  |  DISEASES
142  |  PARP1  |  DISEASES
11221  |  DUSP10  |  DISEASES
81788  |  NUAK2  |  DISEASES
4194  |  MDM4  |  DISEASES
79465  |  ULBP3  |  DISEASES
554313  |  HIST2H4B  |  DISEASES
8337  |  HIST2H2AA3  |  DISEASES
8370  |  HIST2H4A  |  DISEASES
79184  |  BRCC3  |  DISEASES
57038  |  RARS2  |  DISEASES
959  |  CD40LG  |  DISEASES
642489  |  FKBP1C  |  DISEASES
1647  |  GADD45A  |  DISEASES
3725  |  JUN  |  DISEASES
23626  |  SPO11  |  DISEASES
5429  |  POLH  |  DISEASES
25  |  ABL1  |  DISEASES
546  |  ATRX  |  DISEASES
9025  |  RNF8  |  DISEASES
6118  |  RPA2  |  DISEASES
7539  |  ZFP37  |  DISEASES
7507  |  XPA  |  DISEASES
3014  |  H2AFX  |  DISEASES
80067  |  DCAF17  |  DISEASES
3376  |  IARS  |  DISEASES
259215  |  LY6G6F  |  DISEASES
8660  |  IRS2  |  DISEASES
9656  |  MDC1  |  DISEASES
2395  |  FXN  |  DISEASES
8366  |  HIST1H4B  |  DISEASES
8361  |  HIST1H4F  |  DISEASES
8364  |  HIST1H4C  |  DISEASES
4609  |  MYC  |  DISEASES
64421  |  DCLRE1C  |  DISEASES
353  |  APRT  |  DISEASES
28984  |  RGCC  |  DISEASES
9636  |  ISG15  |  DISEASES
54840  |  APTX  |  DISEASES
80173  |  IFT74  |  DISEASES
675  |  BRCA2  |  DISEASES
5884  |  RAD17  |  DISEASES
7054  |  TH  |  DISEASES
2280  |  FKBP1A  |  DISEASES
7158  |  TP53BP1  |  DISEASES
26278  |  SACS  |  DISEASES
11200  |  CHEK2  |  DISEASES
5888  |  RAD51  |  DISEASES
6545  |  SLC7A4  |  DISEASES
2175  |  FANCA  |  DISEASES
9605  |  VPS9D1  |  DISEASES
57634  |  EP400  |  DISEASES
7520  |  XRCC5  |  DISEASES
9244  |  CRLF1  |  DISEASES
2113  |  ETS1  |  DISEASES
8065  |  CUL5  |  DISEASES
983  |  CDK1  |  DISEASES
2643  |  GCH1  |  DISEASES
174  |  AFP  |  DISEASES
2737  |  GLI3  |  DISEASES
133746  |  JMY  |  DISEASES
7913  |  DEK  |  DISEASES
116372  |  LYPD1  |  DISEASES
23353  |  SUN1  |  DISEASES
22976  |  PAXIP1  |  DISEASES
1120  |  CHKB  |  DISEASES
2011  |  MARK2  |  DISEASES
80059  |  LRRTM4  |  DISEASES
1111  |  CHEK1  |  DISEASES
79156  |  PLEKHF1  |  DISEASES
85300  |  ATCAY  |  DISEASES
11171  |  STRAP  |  DISEASES
23533  |  PIK3R5  |  DISEASES
27244  |  SESN1  |  DISEASES
1029  |  CDKN2A  |  DISEASES
65065  |  NBEAL1  |  DISEASES
79022  |  TMEM106C  |  DISEASES
7465  |  WEE1  |  DISEASES
23049  |  SMG1  |  DISEASES
8315  |  BRAP  |  DISEASES
27113  |  BBC3  |  DISEASES
8318  |  CDC45  |  DISEASES
6920  |  TCEA3  |  DISEASES
5985  |  RFC5  |  DISEASES
4193  |  MDM2  |  DISEASES
672  |  BRCA1  |  DISEASES
5164  |  PDK2  |  DISEASES
4067  |  LYN  |  DISEASES
11075  |  STMN2  |  DISEASES
917  |  CD3G  |  DISEASES
63970  |  TP53AIP1  |  DISEASES
3748  |  KCNC3  |  DISEASES
9973  |  CCS  |  DISEASES
4857  |  NOVA1  |  DISEASES
30837  |  SOCS7  |  DISEASES
10775  |  POP4  |  DISEASES
5886  |  RAD23A  |  DISEASES
118425  |  PCAT4  |  DISEASES
11257  |  TP53TG1  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
ATM  |  11q22.3
Disease ID 258
Disease ataxia-telangiectasia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:37)
HP:0000147  |  Polycystic ovaries
HP:0000823  |  Delayed puberty
HP:0100585  |  Telangiectasia of the skin
HP:0000496  |  Abnormality of eye movement
HP:0004322  |  Short stature
HP:0001251  |  Ataxia
HP:0007495  |  Prematurely aged appearance
HP:0004313  |  Decreased antibody level in blood
HP:0000819  |  Diabetes mellitus
HP:0000486  |  Strabismus
HP:0001250  |  Seizures
HP:0002715  |  Abnormality of the immune system
HP:0100543  |  Cognitive impairment
HP:0001260  |  Dysarthria
HP:0001888  |  Lymphopenia
HP:0001257  |  Spasticity
HP:0002664  |  Neoplasm
HP:0003220  |  Abnormality of chromosome stability
HP:0002910  |  Elevated hepatic transaminases
HP:0005978  |  Type II diabetes mellitus
HP:0007565  |  Multiple cafe-au-lait spots
HP:0005599  |  Hypopigmentation of hair
HP:0002167  |  Neurological speech impairment
HP:0008065  |  Aplasia/Hypoplasia of the skin
HP:0002205  |  Recurrent respiratory infections
HP:0000639  |  Nystagmus
HP:0010515  |  Aplasia/Hypoplasia of the thymus
HP:0002216  |  Premature graying of hair
HP:0000035  |  Abnormality of the testis
HP:0005374  |  Cellular immunodeficiency
HP:0100022  |  Abnormality of movement
HP:0001508  |  Failure to thrive
HP:0100579  |  Mucosal telangiectasiae
HP:0003202  |  Skeletal muscle atrophy
HP:0002721  |  Immunodeficiency
HP:0001288  |  Gait disturbance
HP:0001337  |  Tremor
Text Mined Phenotype(Waiting for update.)
Disease ID 258
Disease ataxia-telangiectasia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:37)
C2707258  |  infections
C1961099  |  t acute lymphoblastic leukemia
C1744558  |  t cell deficiency
C0876973  |  pulmonary infections
C0855211  |  testicular seminoma
C0740279  |  cerebellar atrophy
C0678222  |  breast cancer
C0398701  |  igg2 deficiency
C0341714  |  renal lymphoma
C0278701  |  gastric adenocarcinoma
C0235031  |  neurological symptoms
C0235031  |  neurologic symptoms
C0235031  |  nervous system symptoms
C0231341  |  premature aging
C0206658  |  smooth muscle tumors
C0206062  |  interstitial lung disease
C0178650  |  gammopathy
C0162539  |  igg subclass deficiency
C0154251  |  lipid metabolism disorder
C0151313  |  sensory neuropathy
C0037284  |  skin lesion
C0024299  |  lymphomas
C0024299  |  lymphoma
C0024115  |  lung disease
C0023492  |  t-cell leukemia
C0023467  |  acute myeloid leukemia
C0021053  |  immunologic disorders
C0021053  |  immune disorders
C0021051  |  immunodeficiency
C0020455  |  hypergammaglobulinemia
C0019829  |  hodgkin disease
C0019348  |  herpes simplex virus infection
C0019214  |  hepatosplenomegaly
C0019156  |  hepatic veno-occlusive disease
C0011849  |  diabetes mellitus
C0006272  |  bronchiolitis obliterans
C0001418  |  adenocarcinoma
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:52)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1137887NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108256340GA,C
rs121434220NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108330233CT
rs139770721NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108315911GA
rs1800054NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227849CG,T
rs180005421396839472ATMumls:C0004135BeFreeEight coding SNPs were chosen in ATM (Ser49Cys), BID (Ser56Cys), CASP8 (Asp302His), CASP10 (Val410Ile), LGALS3 (Pro64His), RASSF1 (Ser133Ala), TP53 (Arg72Pro), and TP53AIP1 (Ala7Val), and two non-coding SNPs were selected in BCL2 (-938C/A) and HDM2 (SNP309).0.7086891972013ATM11108227849CG,T
rs19392213623538518959CD40LGumls:C0004135BeFreeIn contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.0.0005428842014CD40LGX136659390CT
rs1939221362353851857379AICDAumls:C0004135BeFreeIn contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype.0.0002714422014CD40LGX136659390CT
rs201686625NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108248927TG
rs202206540NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108316069GA
rs28904921NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108329202TG
rs532480170NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108316015CA,T
rs557012154NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108244927CT
rs55861249NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227806CA,T
rs564652222NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108325416CT
rs587776549NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108272813ATCTGAT
rs587776551NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108281168GA
rs587776552NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108270483GTAA-
rs587778077NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108304830-A
rs587779815NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108250804CT
rs587779817NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108251029GA-
rs587779818NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227873GA
rs587779833NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108279578CG
rs587779834NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108284282G-
rs587779844NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108301698CT
rs587779846NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108301760C-
rs587780612NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108247086AAAG-
rs587780624NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108235815ATCTC-
rs587781347NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108250867AA-
rs587781558NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108271147GA,C,T
rs587781672NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108329027GT
rs587781722NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108310305CT
rs587781730NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108307934-A
rs587781927NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108293479TC
rs587782276NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108287598AG
rs730881346NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108257471TG
rs751357509NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108251026AG-
rs764389018NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108301658CT
rs772821016NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108244873CT
rs774185390NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227843CG
rs780619951NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108259022CT
rs781404312NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227627GA
rs786202695NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108268491GTGT-
rs786203606NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227626TC
rs786204088NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108227697GA
rs786204433NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108304822CT
rs786204543NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108244096T-
rs786204737NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108250989T-
rs786204751NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108304693CT
rs796051856NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108329210CTTAGG-
rs797045030NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108315865-A
rs797045114NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108288978G-
rs863225466NA472ATMumls:C0004135CLINVARNA0.708689197NAATM11108320021GA-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)