Details of Disease

General Information of Disease (ID: DISP3EVR)

Disease Name	Ataxia-telangiectasia
Synonyms	ataxia - telangiectasia variant; immunodeficiency with ataxia telangiectasia; AT, complementation group C; AT; AT, complementation group D; AT1; ataxia-telangiectasia; cerebello-oculocutaneous telangiectasia; AT, complementation group A; AT, complementation group E; ataxia telangiectasia syndrome; boder-Sedgwick syndrome; Louis-Bar syndrome; ataxia - telangiectasia; Louis Bar syndrome; ataxia telangiectasia
Disease Class	4A01: Adaptive immunity immunodeficiency
Definition	Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS4V9SY: Inherited primary ovarian failure DISKR6QJ: Combined immunodeficiency DISP3EVR: Ataxia-telangiectasia
ICD Code	ICD-11 ICD-11: 4A01.31 ICD-10 ICD-10: Q82.8 Expand ICD-11 '4A01.31 Expand ICD-10 'Q82.8
Disease Identifiers	MONDO ID MONDO_0008840 MESH ID D001260 UMLS CUI C0004135 OMIM ID 208900 MedGen ID 439 Orphanet ID 100 SNOMED CT ID 68504005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Dexamethasone sodium phosphate	DMIG8DW	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
EDS-EP	DM5LSN1	Phase 3	NA	[2]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BZ6	DMF8UWE	Investigative	Small molecular drug	[3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 44 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC30A8	TTXIGT7	Limited	Biomarker	[4]
GAA	TTLPC70	moderate	Genetic Variation	[5]
ACAT1	TTK3C21	Strong	Genetic Variation	[6]
ARSA	TTYQANR	Strong	Genetic Variation	[7]
ATR	TT8ZYBQ	Strong	Genetic Variation	[8]
ATXN3	TT6A17J	Strong	Genetic Variation	[9]
CCNB1	TT9P6OW	Strong	Biomarker	[10]
CD38	TTPURFN	Strong	Biomarker	[11]
CES1	TTMF541	Strong	Genetic Variation	[12]
CHEK1	TTTU902	Strong	Biomarker	[13]
CHEK2	TT9ABMF	Strong	Altered Expression	[14]
CYSLTR1	TTGKOY9	Strong	Genetic Variation	[7]
DHFR	TTYZVDJ	Strong	Biomarker	[15]
DLG4	TT9PB26	Strong	Biomarker	[16]
ENAH	TTY36UA	Strong	Biomarker	[17]
ENPP2	TTSCIM2	Strong	Altered Expression	[18]
FABP1	TTIV96N	Strong	Genetic Variation	[19]
FANCA	TTV5HJS	Strong	Biomarker	[20]
FCER1G	TTDGEC0	Strong	Genetic Variation	[21]
FCGRT	TTKLPHO	Strong	Biomarker	[22]
FSHR	TTZFDBT	Strong	Biomarker	[23]
GPR132	TTNBW4F	Strong	Biomarker	[24]
GRIA4	TTPJR0G	Strong	Biomarker	[25]
IRS2	TTF95B8	Strong	Biomarker	[26]
ISG15	TTVOH3T	Strong	Biomarker	[27]
JAK3	TTT7PJU	Strong	Biomarker	[28]
PNKP	TTHR3IE	Strong	Altered Expression	[29]
PPM1D	TTENJAB	Strong	Biomarker	[30]
PRKDC	TTK3PY9	Strong	Biomarker	[14]
PRSS1	TT2WR1T	Strong	Genetic Variation	[31]
PTGDR2	TTQDMX5	Strong	Genetic Variation	[32]
SERPINA1	TTA7UJC	Strong	Genetic Variation	[33]
SGCA	TTS9Q5V	Strong	Genetic Variation	[34]
SLC15A1	TT5LF3C	Strong	Biomarker	[35]
SLC1A5	TTF7WRM	Strong	Biomarker	[36]
SLC38A1	TT1YE9Z	Strong	Biomarker	[36]
SLC6A12	TTQBMPI	Strong	Genetic Variation	[37]
TBXAS1	TTKNWZ4	Strong	Altered Expression	[38]
TERF1	TT1Y6J2	Strong	Biomarker	[39]
TPO	TT52XDZ	Strong	Biomarker	[40]
TRB	TT84HCW	Strong	Biomarker	[41]
TSHR	TT6NYJA	Strong	Biomarker	[42]
ATM	TTKBM7V	Definitive	Autosomal recessive	[43]
TBXA2R	TT2O84V	Definitive	Genetic Variation	[44]
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⏷ Show the Full List of 44 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A10	DTYBI73	Limited	Biomarker	[4]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HPRT1	DEVXTP5	Strong	Genetic Variation	[45]
MARS1	DE0K52I	Strong	Biomarker	[46]
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This Disease Is Related to 91 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C12orf75	OTFVI3EY	Limited	Genetic Variation	[47]
CSN2	OT22C0PD	Limited	Genetic Variation	[48]
MRE11	OTGU8TZM	Disputed	Genetic Variation	[49]
GLYAT	OT3WWYXD	moderate	Genetic Variation	[5]
NEIL3	OTBCI2NS	moderate	Biomarker	[50]
OR2AG1	OTEITRP4	moderate	Genetic Variation	[51]
AAGAB	OTRGGM2Z	Strong	Biomarker	[52]
APTX	OTPAS5G8	Strong	Biomarker	[53]
ATP6	OTPHOGLX	Strong	Genetic Variation	[54]
ATRIP	OT78O9LF	Strong	Biomarker	[46]
BIK	OTTH1T3D	Strong	Biomarker	[55]
BLM	OTEJOAJX	Strong	Altered Expression	[56]
BTF3	OT5ZZFJL	Strong	Altered Expression	[57]
C11orf65	OTKOIR0G	Strong	CausalMutation	[58]
CANT1	OT1TPWQR	Strong	Biomarker	[59]
CCL24	OT9LGHV0	Strong	Altered Expression	[32]
CCNB2	OTIEXTDK	Strong	Altered Expression	[60]
CCNH	OTKDU3SR	Strong	Biomarker	[52]
CD5L	OTPY4WQR	Strong	Altered Expression	[61]
CENPV	OTPQ0KT9	Strong	Biomarker	[62]
CLSPN	OTZZXNDK	Strong	Biomarker	[63]
CNKSR3	OTXP4QH8	Strong	Biomarker	[64]
COL26A1	OTMS7RNF	Strong	Genetic Variation	[65]
CRYGD	OTW29JC4	Strong	Biomarker	[17]
CUL5	OTMTZD47	Strong	Genetic Variation	[66]
DCBLD2	OTB71I02	Strong	Genetic Variation	[67]
DTD1	OT63V2KK	Strong	Genetic Variation	[68]
DYNC2H1	OTLC8K6B	Strong	Biomarker	[69]
ETV6	OTCZMG61	Strong	Genetic Variation	[70]
EXO1	OTI87RS5	Strong	Biomarker	[71]
FANCC	OTTIDM3P	Strong	Genetic Variation	[72]
FANCD2	OTVEB5LF	Strong	Biomarker	[73]
FEV	OTYEC4IR	Strong	Genetic Variation	[74]
FLCN	OTVM78XM	Strong	Altered Expression	[75]
FSIP1	OTYLL6GM	Strong	Genetic Variation	[76]
GADD45A	OTDRV63V	Strong	Biomarker	[60]
GTF2H3	OT87W5QJ	Strong	Biomarker	[52]
GTF2H4	OTPD1DIU	Strong	Genetic Variation	[74]
GYPB	OTESHUIX	Strong	Genetic Variation	[77]
GYPE	OTBHAG6A	Strong	Genetic Variation	[77]
H1-0	OTRLJK4Z	Strong	Biomarker	[78]
H2AX	OT18UX57	Strong	Altered Expression	[79]
HERPUD1	OT9EROL6	Strong	Biomarker	[80]
HESX1	OT5E2Z4G	Strong	Biomarker	[17]
HINFP	OTLNEEPK	Strong	Biomarker	[81]
IFT172	OT12DW08	Strong	Biomarker	[82]
IFT80	OTMH0MBI	Strong	Biomarker	[83]
IL2RG	OTRZ3OMY	Strong	Genetic Variation	[84]
INTU	OTXB13E6	Strong	Biomarker	[85]
IYD	OT8BQWTE	Strong	Altered Expression	[86]
KAT5	OTL7257A	Strong	Biomarker	[87]
KIAA0753	OTMFT2I9	Strong	Genetic Variation	[88]
KPNA4	OTP0EX18	Strong	Genetic Variation	[89]
LIG1	OTEEQS43	Strong	Biomarker	[90]
LIG3	OT48SKET	Strong	Biomarker	[91]
LIG4	OT40DNXU	Strong	Biomarker	[92]
LRRC59	OT6BQJ5E	Strong	Biomarker	[52]
MDC1	OTEUQH4J	Strong	Altered Expression	[93]
MTCP1	OT4O23TK	Strong	Altered Expression	[94]
NABP2	OTQU8081	Strong	Biomarker	[95]
NBN	OT73B5MD	Strong	Biomarker	[96]
NCOR2	OTY917X0	Strong	Biomarker	[97]
NHEJ1	OTYOO05J	Strong	Genetic Variation	[98]
NLRP2	OTJA81JU	Strong	Biomarker	[96]
NPAT	OT1ZU6JB	Strong	Biomarker	[66]
PARP10	OTILI1DU	Strong	Biomarker	[99]
PSMC1	OTLHD56E	Strong	Biomarker	[100]
PSME3	OTSTC4YY	Strong	Genetic Variation	[62]
RAB1A	OTKPHRD0	Strong	Genetic Variation	[101]
RAD50	OTYMU9G1	Strong	Biomarker	[102]
RANBP9	OTM8COM5	Strong	Biomarker	[103]
RNF168	OT6AZXX8	Strong	Genetic Variation	[104]
RNPC3	OTW5MKC1	Strong	Biomarker	[17]
SLFN11	OTJWFPMY	Strong	Altered Expression	[105]
SMAP2	OTPGVRKO	Strong	Genetic Variation	[106]
SMC1A	OT9ZMRK9	Strong	Posttranslational Modification	[100]
SNRPN	OTQB1ID1	Strong	Biomarker	[107]
SPSB1	OTGY26U4	Strong	Biomarker	[95]
SPTBN2	OTDMJ75N	Strong	Biomarker	[64]
SSB	OTCCTPBR	Strong	Biomarker	[108]
STMN2	OT0FUHLH	Strong	Biomarker	[16]
SUMF2	OT37I8JL	Strong	Genetic Variation	[109]
TG	OT3ELHIJ	Strong	Genetic Variation	[110]
TMEM196	OTPFLB1R	Strong	Genetic Variation	[111]
TRAT1	OTMPUNPD	Strong	Genetic Variation	[112]
TREX1	OTQG7K12	Strong	Biomarker	[113]
TRIM29	OT2DNESG	Strong	Genetic Variation	[114]
TTC21B	OTXXA87U	Strong	Biomarker	[69]
ATM	OTQVOHLT	Definitive	Autosomal recessive	[43]
HLA-DPA1	OT7OG7Y2	Definitive	Genetic Variation	[44]
HLA-DRB3	OT5PM9N7	Definitive	Genetic Variation	[44]
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⏷ Show the Full List of 91 DOT(s)

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