Details of Disease

General Information of Disease (ID: DISGW6Q8)

• Disease Name: Fanconi's anemia
• Synonyms: Fanconi's anaemia; Panmyelopathy, Fanconi; Fanconi's anemia; Fanconi panmyelopathy; Fanconi pancytopenia; primary erythroid hypoplasia; pancytopenia, congenital; Fanconi anemia
• Disease Class: 3A70: Aplastic anaemia
• Definition: Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
• Disease Hierarchy:
  DISLXQHV: Telomere syndrome
  DIS582WT: Bone marrow disorder
  DIS3LICD: Congenital limb malformation
  DISMFQKM: Developmental anomaly of metabolic origin
  DISHPNVX: Dysplasia
  DISO9M7N: Inherited aplastic anemia
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISTW0J6: Congenital anemia
  DISN7YWO: DNA repair disease
  DISGW6Q8: Fanconi's anemia
• ICD Code: ICD-11: ICD-11: 3A70.0
• Disease Identifiers:
  MONDO ID: MONDO_0019391
  MESH ID: D005199
  UMLS CUI: C0015625
  MedGen ID: 41967
  Orphanet ID: 84
  SNOMED CT ID: 30575002

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
RP-L102	DMSJU5B	Phase 2	Gene therapy	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 119 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UBE2T	OTPDJDBA	Supportive	Autosomal recessive	[2]
XRCC2	OTJB2PV4	Supportive	Autosomal recessive	[3]
BLM	OTEJOAJX	Limited	Biomarker	[38]
FAAP100	OT7VJXAT	Limited	Biomarker	[39]
FAAP20	OTDI1MIV	Limited	Biomarker	[40]
MECOM	OTP983W8	Limited	Genetic Variation	[41]
RNF8	OTRR43PZ	Limited	Biomarker	[42]
RPS19	OTBKGP48	Limited	Genetic Variation	[43]
SNU13	OTH56TIH	Limited	Biomarker	[6]
GAS2	OT50JKXQ	Disputed	Genetic Variation	[44]
BRCA1	OT5BN6VH	Supportive	Autosomal recessive	[45]
BRCA2	OTF1XSV1	Supportive	Autosomal recessive	[7]
ERCC4	OTFIOPG1	Supportive	Autosomal recessive	[46]
FANCA	OTPEFJD4	Supportive	Autosomal recessive	[7]
FANCB	OTMZTXB5	Supportive	Autosomal recessive	[7]
FANCC	OTTIDM3P	Supportive	Autosomal recessive	[7]
FANCD2	OTVEB5LF	Supportive	Autosomal recessive	[7]
FANCE	OTKRPBW1	Supportive	Autosomal recessive	[7]
FANCF	OT3WA9N1	Supportive	Autosomal recessive	[7]
FANCG	OT7MC8TZ	Supportive	Autosomal recessive	[7]
FANCI	OTW8E3SC	Supportive	Autosomal recessive	[7]
FANCL	OTJC7QPQ	Supportive	Autosomal recessive	[7]
FANCM	OTNJG99Z	Supportive	Autosomal recessive	[7]
MAD2L2	OT24ZO59	Supportive	Autosomal recessive	[34]
PALB2	OT6DNDBG	Supportive	Autosomal recessive	[7]
RAD51	OTNVWGC1	Supportive	Autosomal recessive	[8]
RAD51C	OTUD6SY5	Supportive	Autosomal recessive	[7]
RFWD3	OTDUULBQ	Supportive	Autosomal recessive	[47]
SLX4	OTF6236I	Supportive	Autosomal recessive	[7]
RECQL4	OT59LSW7	moderate	Genetic Variation	[48]
ATAD5	OTI8ABKF	Strong	Biomarker	[49]
BABAM1	OTCFPER6	Strong	Biomarker	[50]
BCL2L12	OTS6IFZY	Strong	Biomarker	[51]
BCS1L	OT5PY5CY	Strong	Genetic Variation	[52]
BIK	OTTH1T3D	Strong	Biomarker	[53]
BMF	OT90NSLI	Strong	Biomarker	[54]
BRAP	OTB7BAFQ	Strong	Genetic Variation	[55]
BRMS1	OTV5A6LL	Strong	Biomarker	[56]
CBLL2	OTB4AD3V	Strong	Biomarker	[57]
CD48	OT83ZNPP	Strong	Biomarker	[58]
CDK10	OTKP7TTR	Strong	Genetic Variation	[59]
CENPX	OTG1RAKJ	Strong	Biomarker	[60]
CHMP1A	OTVQ5UWX	Strong	Genetic Variation	[59]
CIITA	OTRJNZFO	Strong	Altered Expression	[61]
COL11A2	OT3BQUBH	Strong	Biomarker	[62]
COX4I1	OTU0FC24	Strong	Genetic Variation	[63]
CPNE3	OTCR3WG2	Strong	Altered Expression	[64]
CT55	OTQC0H27	Strong	Biomarker	[65]
CTBP1	OTVYH2DH	Strong	Altered Expression	[66]
CUL4B	OT2QX4DO	Strong	Biomarker	[67]
DCLRE1A	OT68PVSD	Strong	Biomarker	[68]
DCLRE1B	OT2LFW7A	Strong	Biomarker	[69]
DDX11	OT1WR3MD	Strong	Biomarker	[70]
DNA2	OT4DJFFU	Strong	Biomarker	[71]
DONSON	OTN5HE0W	Strong	Genetic Variation	[72]
EFCAB6	OT5G7GKB	Strong	Genetic Variation	[73]
ELOVL6	OTB26UJJ	Strong	Genetic Variation	[74]
ERCC1	OTNPYQHI	Strong	Biomarker	[75]
EXO1	OTI87RS5	Strong	Biomarker	[68]
FAAP24	OTW6CO2I	Strong	Biomarker	[76]
FAH	OTGZA1YR	Strong	Genetic Variation	[77]
FAM120B	OTGYUFOJ	Strong	Genetic Variation	[78]
GABRB1	OT4L2SSB	Strong	Altered Expression	[79]
GABRG1	OT1NGUYY	Strong	Biomarker	[80]
GINS2	OT974IYI	Strong	Biomarker	[81]
GOLGA4	OTCMEHNJ	Strong	Altered Expression	[82]
GYPA	OTABU4YV	Strong	Genetic Variation	[83]
GYPB	OTESHUIX	Strong	Genetic Variation	[84]
GYPE	OTBHAG6A	Strong	Genetic Variation	[84]
H2AX	OT18UX57	Strong	Biomarker	[85]
HBG2	OT4J48JJ	Strong	Biomarker	[86]
IKZF1	OTCW1FKL	Strong	Genetic Variation	[87]
IL17RB	OT0KDNSF	Strong	Biomarker	[67]
IL3	OT0CQ35N	Strong	Biomarker	[21]
KAT5	OTL7257A	Strong	Biomarker	[88]
MCM10	OTV0O3JN	Strong	Biomarker	[25]
MCM4	OT19PNNG	Strong	Biomarker	[89]
MEF2C	OTZGF1Y5	Strong	Altered Expression	[26]
MKS1	OT83W5PB	Strong	Biomarker	[5]
MRE11	OTGU8TZM	Strong	Biomarker	[90]
MRPL36	OTZ9QV3U	Strong	Genetic Variation	[91]
MUL1	OT2JC9YR	Strong	Biomarker	[57]
MX1	OT6X8G5T	Strong	Biomarker	[92]
MYH4	OT4657W4	Strong	Altered Expression	[26]
NBN	OT73B5MD	Strong	Biomarker	[90]
NEIL1	OTHBU5DJ	Strong	Altered Expression	[93]
NEIL3	OTBCI2NS	Strong	Biomarker	[94]
NLN	OTFRITPU	Strong	Biomarker	[95]
NLRP2	OTJA81JU	Strong	Biomarker	[90]
OCRL	OTQ3L42N	Strong	Genetic Variation	[96]
OPN4	OT1LZ7TS	Strong	Biomarker	[95]
PARPBP	OTPZDGW7	Strong	Biomarker	[97]
PHF1	OTW2PSIR	Strong	Genetic Variation	[98]
PMS2	OTNLWTMI	Strong	Biomarker	[99]
POLD1	OTWO4UCJ	Strong	Altered Expression	[100]
PRDX6	OTS8KC8A	Strong	Biomarker	[29]
PRKN	OTJBN41W	Strong	Biomarker	[57]
PSMA7	OTPHI6ST	Strong	Genetic Variation	[101]
PSPH	OTV1PVAX	Strong	Altered Expression	[102]
RAD18	OTQ9PLNT	Strong	Altered Expression	[103]
RAD50	OTYMU9G1	Strong	Biomarker	[90]
RAD51D	OTKOU5XN	Strong	Genetic Variation	[104]
RAD52	OT0OTDHI	Strong	Biomarker	[105]
RBBP8	OTRHJ3GI	Strong	Biomarker	[106]
REV1	OTHIKICX	Strong	Biomarker	[107]
REV3L	OT0OP8EJ	Strong	Genetic Variation	[108]
RNF168	OT6AZXX8	Strong	Biomarker	[109]
RNF4	OTCMXQRE	Strong	Biomarker	[110]
ROMO1	OTIEYVBW	Strong	Altered Expression	[111]
RUVBL1	OTWV19L7	Strong	Biomarker	[112]
RUVBL2	OTGWJ4T4	Strong	Biomarker	[112]
SETBP1	OTKGCOSR	Strong	Genetic Variation	[113]
SPTAN1	OT6VY3A3	Strong	Biomarker	[114]
SYF2	OTY2ZW1H	Strong	Biomarker	[29]
TELO2	OT2YQ9L8	Strong	Biomarker	[115]
TIGAR	OTR7NMRJ	Strong	Biomarker	[116]
TIMM8A	OTDX9687	Strong	Biomarker	[117]
BRIP1	OT38QBD4	Definitive	Autosomal recessive	[35]
NDUFAF6	OTRJMIGT	Definitive	Genetic Variation	[118]

This Disease Is Related to 37 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALDH2	TTFLN4T	Limited	Genetic Variation	[4]
CHEK1	TTTU902	Limited	Biomarker	[5]
DLK1	TTF4AVB	Limited	Biomarker	[6]
BRCA2	TTUARD6	Supportive	Autosomal recessive	[7]
FANCA	TTV5HJS	Supportive	Autosomal recessive	[7]
FANCF	TTNZKFJ	Supportive	Autosomal recessive	[7]
RAD51	TTC0G1L	Supportive	Autosomal recessive	[8]
UBE2T	TT0A1R8	Supportive	Autosomal recessive	[2]
RAD51	TTC0G1L	moderate	Genetic Variation	[9]
USP1	TTG9MT5	moderate	Biomarker	[10]
ATR	TT8ZYBQ	Strong	Posttranslational Modification	[11]
BACH1	TT2ME4S	Strong	Biomarker	[12]
CD34	TTZAVYN	Strong	Biomarker	[13]
CTNS	TT1W2ZS	Strong	Altered Expression	[14]
CYP11A1	TTSYVO6	Strong	Biomarker	[15]
FANCF	TTNZKFJ	Strong	Genetic Variation	[16]
GGH	TTZJRL0	Strong	Biomarker	[17]
GLRX	TTRJCNG	Strong	Biomarker	[18]
GPR132	TTNBW4F	Strong	Biomarker	[19]
HNF4A	TT2F3CD	Strong	Genetic Variation	[20]
IL3RA	TTENHJ0	Strong	Biomarker	[21]
INHBA	TTVB30D	Strong	Altered Expression	[22]
KITLG	TTDJ51N	Strong	Biomarker	[23]
MAPKAPK2	TTMUG9D	Strong	Biomarker	[24]
MCM6	TTQGKSD	Strong	Biomarker	[25]
MYH2	TTBIL13	Strong	Altered Expression	[26]
NPM1	TTHBS98	Strong	Biomarker	[27]
PLK2	TT976FS	Strong	Biomarker	[18]
PMS1	TTX1ISF	Strong	Biomarker	[28]
PRTN3	TT5MLC4	Strong	Biomarker	[29]
SCT	TTOBVIN	Strong	Genetic Variation	[30]
SLC1A3	TT8WRDA	Strong	Altered Expression	[31]
SPTBN1	TTS9BDA	Strong	Genetic Variation	[32]
TNF	TTF8CQI	Strong	Biomarker	[33]
TP53BP1	TTX4UE9	Strong	Biomarker	[34]
UBE2T	TT0A1R8	Strong	Genetic Variation	[17]
BRIP1	TTZV7LJ	Definitive	Autosomal recessive	[35]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH5	DEIOH6A	Strong	Biomarker	[36]
HPRT1	DEVXTP5	Strong	Genetic Variation	[37]
ME1	DE97WM8	Strong	Biomarker	[5]

References

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• [2] Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. Am J Hum Genet. 2015 Jun 4;96(6):1001-7. doi: 10.1016/j.ajhg.2015.04.022.
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