Details of Disease

Disease Name

Trichohepatoenteric syndrome

Syndromatic diarrhoea; Syndromatic diarrhea; THES1; SD/THE; phenotypic diarrhoea; syndromic diarrhea; Trichohepatoenteric syndrome type 1; phenotypic diarrhea; Tricho-hepato-enteric syndrome; syndromic diarrhoea; syndromic diarrhea/Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome

Definition

A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)

Disease Hierarchy

DISGPMUQ: Intestinal disorder

DISKP5TO: Type 1 interferonopathy of childhood

DIS8I9FS: Hereditary disorder of connective tissue

DISNGCMN: Inborn error of immunity

DISL3ODF: Trichohepatoenteric syndrome

Disease Identifiers

MONDO ID

MONDO_0009105

MESH ID

C565627

UMLS CUI

C1857276

MedGen ID

347405

Orphanet ID

84064

SNOMED CT ID

703406006

General Information of Disease (ID: DISL3ODF)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 47 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OTC	TT5KIO9	moderate	Biomarker	[1]
ABCB4	TTJUXV6	Strong	Genetic Variation	[2]
AGPAT2	TT9AYVR	Strong	Genetic Variation	[3]
ARHGEF3	TT1R5DZ	Strong	Genetic Variation	[4]
AVP	TTJ8EWH	Strong	Biomarker	[5]
AVPR2	TTK8R02	Strong	Biomarker	[6]
CHRM1	TTZ9SOR	Strong	Altered Expression	[7]
CRBN	TTDKGTC	Strong	Genetic Variation	[8]
CYP11A1	TTSYVO6	Strong	Genetic Variation	[9]
CYP11B1	TTIQUX7	Strong	Biomarker	[10]
CYP11B2	TT9MNE2	Strong	Biomarker	[10]
DRD3	TT4C8EA	Strong	Biomarker	[11]
FSHB	TT13GFV	Strong	Biomarker	[12]
GBA	TT1B5PU	Strong	Biomarker	[13]
GHRHR	TTG4R8V	Strong	Genetic Variation	[14]
GRIK2	TT0K5RG	Strong	Genetic Variation	[15]
HMOX2	TTWZRL4	Strong	Genetic Variation	[16]
HSD11B2	TT9H85R	Strong	Genetic Variation	[17]
IDS	TTNY2AP	Strong	Genetic Variation	[18]
KCNJ1	TTJ13ST	Strong	Genetic Variation	[19]
KCNJ2	TTH7UO3	Strong	Genetic Variation	[20]
KCNQ1	TT846HF	Strong	Genetic Variation	[21]
KCNQ2	TTPXI3S	Strong	Altered Expression	[22]
MAG	TT9XFON	Strong	Biomarker	[23]
MC2R	TTPWFDX	Strong	Genetic Variation	[24]
MC4R	TTD0CIQ	Strong	Genetic Variation	[25]
MECP2	TTTAU9R	Strong	Biomarker	[26]
MRC1	TTKV8W5	Strong	Genetic Variation	[27]
NSD1	TTTSJ3H	Strong	Genetic Variation	[28]
PDE3A	TT06AWU	Strong	Genetic Variation	[29]
POLA1	TTGPJ0U	Strong	Genetic Variation	[30]
POR	TTOQ9GZ	Strong	Genetic Variation	[31]
PORCN	TTNFBTO	Strong	Genetic Variation	[32]
PROKR2	TTM67AX	Strong	Genetic Variation	[33]
PTH	TT6F7GZ	Strong	Biomarker	[34]
RET	TT4DXQT	Strong	Genetic Variation	[35]
SCN4A	TT84DRB	Strong	Genetic Variation	[36]
SCN5A	TTZOVE0	Strong	Genetic Variation	[37]
SLC25A4	TTU5A6Q	Strong	Biomarker	[38]
SLC26A4	TT7X02I	Strong	Biomarker	[39]
ST3GAL5	TTVF2BJ	Strong	Biomarker	[40]
TKT	TT04R7I	Strong	Genetic Variation	[41]
TOR1A	TTF85KW	Strong	Genetic Variation	[42]
UBE3A	TTUZX6V	Strong	Genetic Variation	[43]
WNT7A	TT8NARC	Strong	Genetic Variation	[44]
ZNF217	TTY3BRA	Strong	Biomarker	[45]
THRB	TTGER3L	Definitive	Genetic Variation	[46]
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⏷ Show the Full List of 47 DTT(s)

This Disease Is Related to 5 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	DTQ8MP1	Strong	Biomarker	[47]
SLC25A10	DTJYKDQ	Strong	Biomarker	[48]
SLC35A2	DT0567K	Strong	Biomarker	[49]
SLC4A4	DTWDEIL	Strong	Genetic Variation	[50]
SLC9A6	DTN0JXW	Strong	Biomarker	[51]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Strong	Genetic Variation	[52]
CHST3	DEQIZP2	Strong	Biomarker	[53]
DHCR7	DEL7GFA	Strong	Genetic Variation	[54]
DIO3	DET89OV	Strong	Biomarker	[55]
------------------------------------------------------------------------------------

This Disease Is Related to 125 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GOLGA6A	OTHU9MRX	Limited	Genetic Variation	[56]
LMOD1	OTZ2MEMG	Disputed	Genetic Variation	[57]
MYH11	OTVNVWY3	Disputed	Genetic Variation	[57]
SKIC2	OTTNLMVM	Supportive	Autosomal recessive	[58]
SKIC3	OTTB3AVE	Supportive	Autosomal recessive	[59]
COL4A5	OTHG60RE	moderate	Biomarker	[60]
LGALS13	OTEV3DD7	moderate	Altered Expression	[61]
POLR3B	OT3FS9MB	moderate	Biomarker	[62]
ABRAXAS2	OTAW1I4C	Strong	Biomarker	[63]
ACSL3	OT3MWER1	Strong	Biomarker	[64]
ACTG2	OTRDWUO0	Strong	Genetic Variation	[65]
ADAMTS18	OTRMFI04	Strong	Genetic Variation	[66]
ADNP	OTEGICWR	Strong	Genetic Variation	[67]
AMH	OT5FH4BD	Strong	Altered Expression	[68]
AQP4	OTA9MYD5	Strong	Biomarker	[69]
ATP6	OTPHOGLX	Strong	Genetic Variation	[70]
ATP8	OTYQQR53	Strong	Biomarker	[70]
BBS2	OTPF9JIB	Strong	Biomarker	[71]
BCKDHA	OT0LHOZB	Strong	Biomarker	[63]
BTBD9	OTWQ6GA3	Strong	Biomarker	[72]
BUB1B	OT8KME51	Strong	Genetic Variation	[73]
BUD13	OTXG6MX5	Strong	Genetic Variation	[4]
CCNDBP1	OTBWG1M0	Strong	Genetic Variation	[74]
CDC73	OT6JASZ1	Strong	Genetic Variation	[75]
CLRN1	OT1ADI7Q	Strong	Biomarker	[76]
CNBP	OTTGM9NK	Strong	Biomarker	[77]
CNNM4	OTUXJRM1	Strong	Genetic Variation	[78]
CNTN3	OTC1274J	Strong	Biomarker	[73]
CNTN4	OTULXVE0	Strong	Biomarker	[8]
CRKL	OTOYSD1R	Strong	Biomarker	[79]
DARS2	OTVPFTBG	Strong	Genetic Variation	[80]
DISP1	OTLDFZSY	Strong	Biomarker	[81]
DLX5	OTEEFBEU	Strong	Genetic Variation	[82]
DLX6	OT0FIJHY	Strong	Genetic Variation	[82]
EDA	OTAKS5WS	Strong	Genetic Variation	[83]
EIF2S3	OTARRES9	Strong	Genetic Variation	[84]
EPPK1	OT7BAU8C	Strong	Biomarker	[85]
ERCC3	OTVAW3P1	Strong	Genetic Variation	[86]
EYA1	OTHU807A	Strong	Genetic Variation	[87]
FANCC	OTTIDM3P	Strong	Genetic Variation	[88]
FGD1	OTV3T64P	Strong	Biomarker	[89]
FH	OTEQWU6Q	Strong	Genetic Variation	[90]
FIP1L1	OTF91GTL	Strong	Biomarker	[91]
FLCN	OTVM78XM	Strong	Genetic Variation	[92]
FMR1	OTWEV0T5	Strong	Genetic Variation	[93]
FOXL2	OTFRQUYL	Strong	Genetic Variation	[94]
FTL	OTYQA8A6	Strong	Genetic Variation	[16]
FTSJ1	OTNE7W96	Strong	Biomarker	[49]
GALT	OTCATU66	Strong	Biomarker	[95]
GATA2	OTBP2QQ2	Strong	Genetic Variation	[96]
GBA2	OTOZXG5D	Strong	Genetic Variation	[13]
GOSR2	OTYHIYN2	Strong	Genetic Variation	[97]
HLA-DRB5	OTUX5TWM	Strong	Biomarker	[98]
HMGN1	OTSMGH99	Strong	Biomarker	[99]
HPSE2	OTGEPP8V	Strong	Biomarker	[100]
INSL4	OTK9F0LX	Strong	Biomarker	[101]
KANSL1	OTYNSNNZ	Strong	Genetic Variation	[102]
LARP7	OTLLOZTL	Strong	Genetic Variation	[103]
LGI1	OTPS77HO	Strong	Genetic Variation	[104]
LIG1	OTEEQS43	Strong	Biomarker	[105]
LMX1B	OTM8145D	Strong	Genetic Variation	[106]
LOXL1	OTA0NEJU	Strong	Genetic Variation	[107]
LPIN2	OTRRTMXX	Strong	Genetic Variation	[108]
LYST	OTIUB1B3	Strong	Biomarker	[109]
MAEL	OTZ2VU30	Strong	Biomarker	[110]
MAFB	OTH2N3T8	Strong	Genetic Variation	[111]
MAP6	OTPUI00F	Strong	Genetic Variation	[112]
MARK4	OT6Z2TGV	Strong	Altered Expression	[113]
MEN1	OTN6U6V0	Strong	Genetic Variation	[112]
MEST	OT8Q4U8Y	Strong	Biomarker	[114]
MFRP	OTHY9ZA5	Strong	Genetic Variation	[115]
MKKS	OTLF5T11	Strong	Biomarker	[116]
MKRN3	OTAFO4YR	Strong	Genetic Variation	[117]
MLH3	OT91PPBI	Strong	Altered Expression	[118]
MSH6	OT46FP09	Strong	Biomarker	[119]
MYO5B	OTCKL3W3	Strong	Biomarker	[120]
NDUFAB1	OTF906UR	Strong	Biomarker	[95]
NIPBL	OTF6OOLU	Strong	Biomarker	[121]
NPHS2	OTLCNUII	Strong	Genetic Variation	[122]
NSD2	OTQ6SW4R	Strong	Biomarker	[123]
NUFIP2	OTZBZ224	Strong	Altered Expression	[124]
OCRL	OTQ3L42N	Strong	Genetic Variation	[125]
PAX2	OTKP1N8F	Strong	Genetic Variation	[126]
PDLIM5	OTLQVV22	Strong	Genetic Variation	[127]
PEX2	OTKOEYRM	Strong	Genetic Variation	[128]
PIGA	OT51UWUR	Strong	Genetic Variation	[129]
PKP1	OT9HSQ8F	Strong	Genetic Variation	[130]
PMS2	OTNLWTMI	Strong	Biomarker	[119]
POLR3A	OT5MSK10	Strong	Biomarker	[131]
PQBP1	OTXCBEAH	Strong	Biomarker	[49]
PROK2	OT70IFEZ	Strong	Genetic Variation	[33]
PTHLH	OTI1JF13	Strong	Biomarker	[132]
PUF60	OTG90DYF	Strong	Genetic Variation	[133]
RAI1	OTKLQU00	Strong	Biomarker	[134]
RBBP8	OTRHJ3GI	Strong	Genetic Variation	[135]
RFX6	OT8H77DL	Strong	Genetic Variation	[136]
RO60	OTLGM5A8	Strong	Biomarker	[137]
SETBP1	OTKGCOSR	Strong	Genetic Variation	[138]
SETX	OTG3JNOQ	Strong	Biomarker	[139]
SGCE	OT9F17JB	Strong	Genetic Variation	[140]
SHROOM4	OT33GO6E	Strong	Biomarker	[49]
SKI	OT4KJ8F6	Strong	Genetic Variation	[141]
SMARCE1	OTAX4ITH	Strong	Biomarker	[142]
SMC1A	OT9ZMRK9	Strong	Genetic Variation	[143]
SMC3	OTWGFRHD	Strong	Genetic Variation	[143]
SMOC1	OTJG2JQY	Strong	Genetic Variation	[144]
SOX10	OTF25ULQ	Strong	Genetic Variation	[145]
SPINK5	OT61IIAO	Strong	Genetic Variation	[146]
STRA6	OT2IDF27	Strong	Genetic Variation	[147]
SUCLA2	OTMZD4PW	Strong	Genetic Variation	[148]
SYCE1	OTTOIXW8	Strong	Biomarker	[110]
TBCE	OTGBSTKS	Strong	Genetic Variation	[149]
TBX1	OTQLBPRA	Strong	Biomarker	[150]
TCN2	OT41D0L3	Strong	Biomarker	[151]
TCOF1	OT4BOYTM	Strong	Genetic Variation	[152]
TECTA	OT5E0NE2	Strong	Genetic Variation	[153]
TMEM67	OTME92T5	Strong	Biomarker	[154]
TREX1	OTQG7K12	Strong	Genetic Variation	[155]
TRIM21	OTA4UJCF	Strong	Biomarker	[137]
TRPS1	OT7XPPEL	Strong	Genetic Variation	[156]
TSHZ3	OTAN7RY5	Strong	Biomarker	[157]
TSPY1	OTPY57X4	Strong	Biomarker	[158]
TTC7A	OTDHLPQM	Strong	Genetic Variation	[159]
TTF1	OT4K90WD	Strong	Genetic Variation	[160]
TNXB	OTVBWAV5	Definitive	Biomarker	[161]
------------------------------------------------------------------------------------


⏷ Show the Full List of 125 DOT(s)

References

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