Details of Disease

General Information of Disease (ID: DISE8W3A)

• Disease Name: Fragile X syndrome
• Synonyms: primary ovarian insufficiency, fragile X-associated; fra(X) syndrome; X-linked mental retardation and macroorchidism; intellectual disability, X-linked, associated with Marxq28; fragile 10 syndrome; marker 10 syndrome; fragile 10 intellectual disability syndrome; X-linked intellectual disability and macroorchidism; fragile 10 premature ovarian failure; mental retardation, X-linked, associated with Marxq28; fragile 10 mental retardation syndrome; Martin-Bell syndrome; fragile X mental retardation syndrome; fragile X syndrome; FRAXA syndrome; FraX syndrome; fragile X intellectual disability syndrome; marker X syndrome; FXS; Fragile X syndrome, X-linked dominant
• Disease Class: LD55: Fragile X chromosome
• Definition: A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISE8W3A: Fragile X syndrome
• ICD Code:
  ICD-11: ICD-11: LD55
  ICD-10: ICD-10: Q99.2
  Expand ICD-11: 'LD55
  Expand ICD-10: 'Q99.2
  Expand ICD-9: 332759.83
• Disease Identifiers:
  MONDO ID: MONDO_0010383
  MESH ID: D005600
  UMLS CUI: C0016667
  OMIM ID: 300624
  MedGen ID: 8912
  Orphanet ID: 908
  SNOMED CT ID: 613003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Baclofen	DM0QV1J	Approved	Small molecular drug	[1]
Trofinetide	DMPZ97S	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 9 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Arabaclofen	DMZB9RI	Phase 3	Small molecular drug	[3]
Arbaclofen placarbil	DMO628K	Phase 3	Small molecular drug	[4]
OV101	DMA6LR3	Phase 3	NA	[5]
AFQ056	DMMHSLC	Phase 2/3	Small molecular drug	[6]
Lithium	DMZ3OU6	Phase 2	Small molecular drug	[7]
NNZ-2256	DM5K66F	Phase 2	NA	[8]
RG-7090	DMX8JYN	Phase 2	Small molecular drug	[9]
SSTarbaclofen	DMRGTZ2	Phase 2	NA	[10]
McN3377	DMTCADJ	Phase 1/2	Small molecular drug	[11]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
CTEP	DMYRVZ8	Investigative	Small molecular drug	[12]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 27 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F9	TTFEZ5Q	Limited	Biomarker	[13]
PGD	TTZ3IFB	Limited	Biomarker	[14]
PTBP1	TTWMX0U	Limited	Altered Expression	[15]
KCNQ2	TTPXI3S	moderate	Biomarker	[16]
SCN2A	TTLJTUF	moderate	Biomarker	[16]
ADCY1	TTV1ZSQ	Strong	Biomarker	[17]
ATXN3	TT6A17J	Strong	Biomarker	[18]
BMPR2	TTGKF90	Strong	Biomarker	[19]
CFP	TTLA0VS	Strong	Biomarker	[20]
DLG4	TT9PB26	Strong	Biomarker	[21]
FOSL1	TTY8LZG	Strong	Genetic Variation	[22]
GABRD	TTGXH6N	Strong	Altered Expression	[23]
GRIA2	TTWM461	Strong	Genetic Variation	[24]
GRIK1	TT0MYE2	Strong	Biomarker	[25]
GRM1	TTVBPDM	Strong	Biomarker	[26]
IDS	TTNY2AP	Strong	Genetic Variation	[27]
KCNT1	TTGJFK1	Strong	Biomarker	[28]
LIMK1	TTWL9TY	Strong	Biomarker	[19]
PCSK9	TTNIZ2B	Strong	Biomarker	[29]
PDE2A	TTJGW1Z	Strong	Biomarker	[30]
PDE4D	TTSKMI8	Strong	Biomarker	[31]
RGS4	TTGTKX9	Strong	Biomarker	[32]
RIC8A	TTDFTJG	Strong	Biomarker	[33]
SDC2	TT5H2F0	Strong	Biomarker	[34]
SLC36A1	TTUYIZW	Strong	Altered Expression	[35]
ST14	TTPRO7W	Strong	Biomarker	[36]
UBE3A	TTUZX6V	Strong	Genetic Variation	[37]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[38]

This Disease Is Related to 48 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AFF2	OTMF1PZW	Limited	Biomarker	[16]
CPEB1	OTLCXC6H	Limited	Biomarker	[39]
MAK16	OTD546E5	Limited	Altered Expression	[15]
PNO1	OT010GIS	Limited	Altered Expression	[15]
RBMS3	OTFSC9MR	Limited	Altered Expression	[15]
SRRM2	OTSIMMC9	Limited	Altered Expression	[15]
CAPRIN1	OTEJAMS3	moderate	Biomarker	[16]
CYFIP2	OTCAY35T	moderate	Biomarker	[40]
MBD5	OTFHT4MO	moderate	Biomarker	[41]
NRXN1	OTJN1JQA	moderate	Biomarker	[16]
RAI1	OTKLQU00	moderate	Genetic Variation	[41]
ADARB1	OTGKSZEV	Strong	Altered Expression	[42]
ARHGEF9	OTB1FLIW	Strong	Genetic Variation	[43]
CHMP4A	OTBCSG50	Strong	Altered Expression	[44]
CLSTN1	OTQN35G2	Strong	Biomarker	[45]
CYFIP1	OTOBEH24	Strong	Biomarker	[40]
DGKK	OTHIMF7L	Strong	Biomarker	[46]
DLG3	OTH591WK	Strong	Genetic Variation	[47]
DSCAM	OTL7PRMK	Strong	Biomarker	[48]
DSTN	OTMXO4YB	Strong	Biomarker	[49]
FXR1	OTEMQ1SR	Strong	Biomarker	[50]
FXR2	OTQX7ATF	Strong	Biomarker	[50]
ICAM5	OTDGGAFH	Strong	Biomarker	[45]
INPP5K	OTQFLQKA	Strong	Genetic Variation	[51]
LGALS4	OTKQCG0H	Strong	Genetic Variation	[52]
MED18	OT6M6CQ8	Strong	Genetic Variation	[53]
NBEA	OTYLY5TY	Strong	Biomarker	[54]
NCS1	OT6JHAWM	Strong	Biomarker	[33]
NFE2L1	OT1QHOS2	Strong	Biomarker	[55]
NNAT	OTNRLO7G	Strong	Altered Expression	[28]
NRF1	OTOXWNV8	Strong	Biomarker	[55]
PKP4	OTQHOF8L	Strong	Biomarker	[56]
PPP2R5E	OT8GPFT5	Strong	Biomarker	[57]
PTPN5	OT2H1KDK	Strong	Biomarker	[58]
PVALB	OTZW1WVQ	Strong	Biomarker	[59]
RABEP2	OTO61X27	Strong	Genetic Variation	[22]
RANGAP1	OTZGD3LJ	Strong	Biomarker	[60]
SHANK1	OTK8PV0S	Strong	Altered Expression	[28]
SHC2	OTTWMRNQ	Strong	Genetic Variation	[61]
SKI	OT4KJ8F6	Strong	Biomarker	[62]
SNRPN	OTQB1ID1	Strong	Genetic Variation	[63]
STATH	OTQHBHM9	Strong	Genetic Variation	[64]
STXBP1	OTRYA8C3	Strong	Biomarker	[65]
SYN1	OTMNPWC1	Strong	Altered Expression	[66]
TDRD3	OTG83E2C	Strong	Genetic Variation	[67]
TOP3B	OTNFEUOO	Strong	Biomarker	[68]
ARSD	OTAHW9M8	Definitive	Biomarker	[69]
FMR1	OTWEV0T5	Definitive	X-linked	[70]

References

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