Details of Disease

General Information of Disease (ID: DIS6QM6U)

• Disease Name: Lysosomal storage disease
• Synonyms: phospholipidosis; lysosome disorder; lysosome disease; lysosomal storage metabolism disorder; lysosomal storage disorder; lysosomal disorder; lysosomal disease; inborn lysosomal enzyme disorder; disorder of lysosomal enzymes; disorder of lysosomal enzyme
• Disease Class: 5C56: Lysosomal disease
• Definition: A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
• Disease Hierarchy:
  DISWD40R: Disease
  DISO5FAY: Inborn error of metabolism
  DIS6QM6U: Lysosomal storage disease
• ICD Code:
  ICD-11: ICD-11: 5C56.Z
  ICD-10: ICD-10: E75-E77
• Disease Identifiers:
  MONDO ID: MONDO_0002561
  MESH ID: D016464
  UMLS CUI: C0085078
  MedGen ID: 43098
  Orphanet ID: 68366
  SNOMED CT ID: 23585005

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
UX-003	DM8LWPR	Phase 3	NA	[1]

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
ALD-601	DMCMNWB	Discontinued in Phase 1	NA	[2]
NZ-1002	DMINSRW	Terminated	NA	[3]

This Disease is Treated as An Indication in 4 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
SBC-106	DM39FUU	Investigative	NA	[4]
UX-002	DMP5EAV	Investigative	NA	[4]
UX-004	DMT8RLT	Investigative	NA	[4]
UX-005	DMUFVCV	Investigative	NA	[4]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 30 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABHD6	TTSINOV	Limited	Genetic Variation	[5]
CLCN6	TTCJRDO	Limited	Biomarker	[6]
CLN6	TTJCOQ7	Limited	Biomarker	[7]
FCGR2B	TT5RWKQ	Limited	Biomarker	[8]
HEXB	TTKIBKM	Limited	Genetic Variation	[9]
HSD17B1	TTIWB6L	Limited	Genetic Variation	[10]
CTSB	TTF2LRI	moderate	Biomarker	[11]
ARSA	TTYQANR	Strong	Biomarker	[12]
ARSB	TTESQTG	Strong	Biomarker	[13]
CHIT1	TTDYX6T	Strong	Biomarker	[14]
CLCN7	TTST1AJ	Strong	Biomarker	[15]
CLN3	TTORF9W	Strong	Genetic Variation	[16]
GALC	TT5IZRB	Strong	Genetic Variation	[17]
GALNS	TTT9YPO	Strong	Genetic Variation	[18]
GLA	TTIS03D	Strong	Genetic Variation	[19]
GUSB	TTHS7CM	Strong	Genetic Variation	[20]
HEXA	TTJI5JW	Strong	Genetic Variation	[21]
IDS	TTNY2AP	Strong	Genetic Variation	[22]
IDUA	TT0IUKX	Strong	Biomarker	[23]
LIPA	TTS8T1M	Strong	Genetic Variation	[24]
MAN2B1	TTC12RO	Strong	Altered Expression	[25]
MGAM	TTXWASR	Strong	Genetic Variation	[26]
NAGLU	TTDM6HZ	Strong	Genetic Variation	[27]
PPT1	TTSQC14	Strong	Biomarker	[28]
SGSH	TTPJ2SH	Strong	Biomarker	[29]
SLC17A5	TTFSUIA	Strong	Genetic Variation	[30]
SMPD1	TTJTM88	Strong	Genetic Variation	[31]
SNCA	TT08OSU	Strong	Biomarker	[32]
TPP1	TTOVYPT	Strong	Biomarker	[33]
TTK	TTP7EGM	Strong	Genetic Variation	[34]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC38A9	DTF7MYK	No Known	Unknown	[35]
SLC29A3	DTZAWTH	Limited	Genetic Variation	[36]

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Altered Expression	[37]
ARSK	DEEGA13	Strong	Biomarker	[38]
MANBA	DEMH6UB	Strong	Biomarker	[39]
SI	DE5EO4Y	Strong	Genetic Variation	[26]

This Disease Is Related to 44 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC38A9	OTM53KEI	No Known	Unknown	[35]
ARSG	OTT7TDW7	Limited	Biomarker	[40]
BNIP3L	OTJKOMXE	Limited	Altered Expression	[41]
BTN1A1	OTSQWC36	Limited	Biomarker	[42]
CAPN3	OTCHG3YK	Limited	Genetic Variation	[43]
CAPN8	OTXTW2I4	Limited	Genetic Variation	[43]
CD1B	OT4D5EG7	Limited	Biomarker	[44]
COX4I1	OTU0FC24	Limited	Altered Expression	[41]
EEA1	OTIBXC1B	Limited	Biomarker	[11]
ELF4	OT167PR5	Limited	Biomarker	[11]
FHL3	OTMPRLZ5	Limited	Genetic Variation	[11]
FIG4	OT501PY9	Limited	Biomarker	[45]
FUCA1	OTW71IK4	Limited	Genetic Variation	[46]
HHEX	OTLIUVYX	Limited	Genetic Variation	[47]
HYAL1	OT2SJN0X	Limited	Genetic Variation	[48]
KCTD7	OTRU3EOK	Limited	Genetic Variation	[49]
OSTM1	OTKNJDH7	Limited	Genetic Variation	[50]
PIK3R4	OTRL8QP8	Limited	Biomarker	[51]
PIP4K2A	OTO9JO9U	Limited	Altered Expression	[52]
PLP1	OT8CM9CX	Limited	Biomarker	[53]
SLC66A1	OTUM63MK	Limited	Biomarker	[54]
STX8	OTFOJCHI	Limited	Biomarker	[55]
TBCK	OTP38GVK	Limited	Biomarker	[56]
FUT1	OTODG57A	moderate	Genetic Variation	[57]
GNPTG	OTYO6ONR	moderate	Genetic Variation	[58]
NEU1	OTH9BY8Y	moderate	Altered Expression	[59]
AGA	OTNWT1WB	Strong	Genetic Variation	[60]
ASAH1	OT1DNGXL	Strong	Biomarker	[61]
ATP13A2	OTKWBUGK	Strong	Altered Expression	[62]
CAV2	OT1FGRQX	Strong	Biomarker	[63]
CLN8	OT0D4CB5	Strong	Biomarker	[64]
DNASE1L3	OTEUIMC2	Strong	Biomarker	[11]
ELF3	OTUTLEQO	Strong	Biomarker	[65]
GNPTAB	OT2Z03OB	Strong	Genetic Variation	[66]
GNS	OTNFKYGB	Strong	Biomarker	[67]
MFSD8	OT455EIC	Strong	Genetic Variation	[68]
MPEG1	OT7DAO0F	Strong	Genetic Variation	[34]
NPC1	OTRIPICX	Strong	Biomarker	[69]
NPC2	OTE9UEJC	Strong	Genetic Variation	[70]
OGA	OT7ZBWT1	Strong	Genetic Variation	[47]
PPT2	OTD5VJ9A	Strong	Biomarker	[71]
PSAP	OTUOEKY7	Strong	Genetic Variation	[72]
RPS27	OTFXKY7P	Strong	Genetic Variation	[34]
SUMF1	OTALXO2A	Strong	Genetic Variation	[73]

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