Details of Disease

General Information of Disease (ID: DISTUD1F)

Disease Name	Adrenoleukodystrophy
Synonyms	diffuse sclerosis; adrenoleukodystrophy, X-linked recessive; Bronze-Schilder disease; X-linked adrenoleukodystrophy; encephalitis periaxialis, Schilder's; diffuse cerebral sclerosis of Schilder; adrenomyeloneuropathy, adult, X-linked recessive; X-Linked Adrenoleukodystrophy; Siemerling-Creutzfeldt disease; encephalitis periaxialis concentrica; X-linked ALD; adrenoleukodystrophy, X-linked; adrenoleukodystrophy; X-ALD; ALD; ABCD1 deficiency; sudanophilic cerebral sclerosis; adrenomyeloneuropathy, adult
Disease Class	8A44: Leukodystrophy
Definition	A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISVK0F8: Disorder of peroxisomal transporter DISFS818: Adrenal gland disorder DIS3PN9X: X-linked disease DISFWL8F: Hereditary dementia DISTUD1F: Adrenoleukodystrophy
ICD Code	ICD-11 ICD-11: 8A44.1 Expand ICD-11 '8A44.1
Disease Identifiers	MONDO ID MONDO_0018544 MESH ID D000326 UMLS CUI C0162309 OMIM ID 300100 MedGen ID 57667 Orphanet ID 43 SNOMED CT ID 65389002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Lenti-D	DMQG4CU	Phase 3	NA	[1]
SOM1201	DMDLI5I	Phase 1	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 29 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACAA2	TTM3F49	moderate	Biomarker	[3]
CES1	TTMF541	moderate	Altered Expression	[4]
GADD45B	TTMDW9L	moderate	Altered Expression	[5]
GRHL2	TTUGH4C	moderate	Biomarker	[6]
MAG	TT9XFON	moderate	Biomarker	[7]
PCSK7	TTD30LY	moderate	Biomarker	[8]
PPID	TTNAFOU	moderate	Biomarker	[9]
PPIF	TTRFQTB	moderate	Biomarker	[9]
PRSS1	TT2WR1T	moderate	Genetic Variation	[10]
SCAP	TTL6U2P	moderate	Biomarker	[11]
SGCA	TTS9Q5V	moderate	Biomarker	[12]
SLC40A1	TT6Y1PG	moderate	Altered Expression	[13]
SOD2	TT9O4C5	moderate	Genetic Variation	[14]
ABCA4	TTLB52K	Strong	Genetic Variation	[15]
ABCG2	TTIMJ02	Strong	Genetic Variation	[16]
CD1A	TTBGTFN	Strong	Genetic Variation	[17]
DEPTOR	TTLYP6D	Strong	Biomarker	[18]
DGAT2	TTRHEQ4	Strong	Altered Expression	[19]
DMPK	TTZQTY2	Strong	Genetic Variation	[20]
HAMP	TTRV5YJ	Strong	Biomarker	[21]
HMOX1	TTI6V2A	Strong	Biomarker	[22]
HSD17B13	TTDJYZR	Strong	Genetic Variation	[23]
HSD17B4	TTL1WGS	Strong	Biomarker	[24]
LBP	TTVQJLY	Strong	Altered Expression	[25]
MOG	TTQAFX5	Strong	Biomarker	[26]
PNPLA3	TTEUAEH	Strong	Genetic Variation	[27]
ST14	TTPRO7W	Strong	Biomarker	[28]
ST8SIA4	TTDP8YM	Strong	Genetic Variation	[29]
TM6SF2	TTE1OHM	Strong	Genetic Variation	[30]
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⏷ Show the Full List of 29 DTT(s)

This Disease Is Related to 6 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A5	DT0TQS3	moderate	Biomarker	[31]
ABCB6	DTF9Y2V	Strong	Genetic Variation	[32]
ABCD2	DT4MBHD	Strong	Biomarker	[33]
ABCD3	DTGLZO4	Strong	Altered Expression	[34]
ABCD4	DTI8AFW	Strong	Biomarker	[35]
ABCD1	DTKM9DZ	Definitive	X-linked	[36]
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⏷ Show the Full List of 6 DTP(s)

This Disease Is Related to 6 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH1C	DEM1HNL	Limited	Genetic Variation	[14]
GPT	DER5HFI	Limited	Biomarker	[37]
ADH5	DEIOH6A	moderate	Genetic Variation	[38]
CHST3	DEQIZP2	moderate	Altered Expression	[39]
CYP4F2	DE3GT9C	moderate	Genetic Variation	[40]
AKR1A1	DED2FW3	Strong	Biomarker	[41]
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⏷ Show the Full List of 6 DME(s)

This Disease Is Related to 46 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOL3	OT1K0L0D	Limited	Altered Expression	[42]
ABR	OTZQK8JF	moderate	Biomarker	[43]
ACAA1	OTVKRET0	moderate	Biomarker	[3]
ACSBG2	OTRPANSO	moderate	Altered Expression	[44]
AFM	OTPOR8IO	moderate	Biomarker	[45]
AQP2	OTQLBKK6	moderate	Genetic Variation	[27]
CHMP2B	OTZA7RJB	moderate	Altered Expression	[13]
CLTC	OTBFASMA	moderate	Biomarker	[46]
CSH1	OT33HTRR	moderate	Biomarker	[47]
CSH2	OTW8JVAN	moderate	Biomarker	[47]
DMRT1	OT5PU9U1	moderate	Altered Expression	[13]
EIF2B2	OTQQMHM1	moderate	Genetic Variation	[48]
ENDOU	OTB7OF7Y	moderate	Altered Expression	[49]
ERCC8	OT0T4WKI	moderate	Biomarker	[47]
EXOSC6	OTAC10N6	moderate	Altered Expression	[49]
FBL	OTRODIE5	moderate	Biomarker	[50]
GGTLC1	OTWJKUHQ	moderate	Genetic Variation	[51]
GTF2A1L	OTDQHVAI	moderate	Biomarker	[45]
HADH	OTJDOL20	moderate	Genetic Variation	[52]
HADHB	OT4Y1I62	moderate	Biomarker	[3]
LPIN1	OTQ75KF2	moderate	Biomarker	[53]
MBOAT7	OTHRCBLK	moderate	Genetic Variation	[51]
NVL	OTWTGVTI	moderate	Genetic Variation	[27]
PEX1	OTQJF0V7	moderate	Biomarker	[54]
PEX6	OTFAK5EF	moderate	Genetic Variation	[55]
PIPOX	OTWTCOTN	moderate	Biomarker	[56]
PLIN3	OT9ZA7MR	moderate	Biomarker	[57]
STON1	OT2HPUAI	moderate	Biomarker	[45]
TJP1	OTBDCUPK	moderate	Altered Expression	[58]
ACSBG1	OTM040MW	Strong	Biomarker	[59]
AMN	OTS1TJXG	Strong	Genetic Variation	[60]
BCAP31	OTKSACR4	Strong	Biomarker	[61]
CD1B	OT4D5EG7	Strong	Genetic Variation	[17]
CD1C	OT4XINUJ	Strong	Genetic Variation	[17]
ELOVL1	OTIDTQ8R	Strong	Biomarker	[62]
HFE	OTDD93KB	Strong	Genetic Variation	[63]
PEX13	OTXUAYEW	Strong	Biomarker	[64]
PIWIL2	OT1PXQIF	Strong	Genetic Variation	[65]
POTEF	OTV3WXYE	Strong	Biomarker	[66]
RASGRF2	OT67DAGF	Strong	Genetic Variation	[67]
RHEB	OTFLTSEC	Strong	Biomarker	[68]
SNX10	OT05B7BT	Strong	Biomarker	[69]
SRSF4	OTLI7CU1	Strong	Biomarker	[66]
ABCD1	OT3FL9W0	Definitive	X-linked	[36]
NCAN	OT8OO6ZE	Definitive	Genetic Variation	[70]
PEX26	OT5AM0BM	Definitive	Biomarker	[71]
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⏷ Show the Full List of 46 DOT(s)

References

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2	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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