THES2
MCID: TRC078
MIFTS: 35

Trichohepatoenteric Syndrome 2 (THES2)

Categories: Blood diseases, Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases

Aliases & Classifications for Trichohepatoenteric Syndrome 2

MalaCards integrated aliases for Trichohepatoenteric Syndrome 2:

Name: Trichohepatoenteric Syndrome 2 57 12 72 29 13 6 15 70
Thes2 57 12 72
Syndrome, Trichohepatoenteric, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first few months of life patients may need lifelong total parenteral nutrition


HPO:

31
trichohepatoenteric syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trichohepatoenteric Syndrome 2

OMIM® : 57 Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012). For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (222470). (614602) (Updated 20-May-2021)

MalaCards based summary : Trichohepatoenteric Syndrome 2, also known as thes2, is related to optic disc anomalies with retinal and/or macular dystrophy and gastrointestinal defects and immunodeficiency syndrome, and has symptoms including thin, sparse hair An important gene associated with Trichohepatoenteric Syndrome 2 is SKIV2L (Ski2 Like RNA Helicase). Affiliated tissues include liver, and related phenotypes are decreased serum iron and failure to thrive

Disease Ontology : 12 A trichohepatoenteric syndrome that has material basis in homozygous or compound heterozygous mutation in SKIV2L on chromosome 6p21.33.

UniProtKB/Swiss-Prot : 72 Trichohepatoenteric syndrome 2: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients.

Related Diseases for Trichohepatoenteric Syndrome 2

Graphical network of the top 20 diseases related to Trichohepatoenteric Syndrome 2:



Diseases related to Trichohepatoenteric Syndrome 2

Symptoms & Phenotypes for Trichohepatoenteric Syndrome 2

Human phenotypes related to Trichohepatoenteric Syndrome 2:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 decreased serum iron 31 occasional (7.5%) HP:0040303
2 failure to thrive 31 HP:0001508
3 hepatomegaly 31 HP:0002240
4 hypertelorism 31 HP:0000316
5 prominent forehead 31 HP:0011220
6 immunodeficiency 31 HP:0002721
7 hepatitis 31 HP:0012115
8 intrauterine growth retardation 31 HP:0001511
9 cirrhosis 31 HP:0001394
10 wide nose 31 HP:0000445
11 sparse hair 31 HP:0008070
12 woolly hair 31 HP:0002224
13 trichorrhexis nodosa 31 HP:0009886
14 diarrhea 31 HP:0002014
15 small for gestational age 31 HP:0001518
16 brittle hair 31 HP:0002299
17 uncombable hair 31 HP:0030056
18 colitis 31 HP:0002583
19 villous atrophy 31 HP:0011473
20 pili canaliculi 31 HP:0002235

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Eyes:
hypertelorism

Prenatal Manifestations:
intrauterine growth retardation

Abdomen Gastrointestinal:
colitis
villous atrophy
diarrhea, severe and intractable

Growth Height:
decreased height

Immunology:
immune deficiency

Laboratory Abnormalities:
decreased serum iron (in some patients)

Abdomen Liver:
hepatomegaly
cirrhosis
hepatitis, chronic, nonspecific
iron deposition (in some patients)

Head And Neck Face:
prominent forehead
square forehead
prominent cheeks

Skin Nails Hair Hair:
woolly hair
trichorrhexis nodosa
brittle hair
uncombable hair
thin, sparse hair
more
Growth Weight:
low birth weight

Head And Neck Nose:
flat, broad nose

Cardiovascular Heart:
cardiac abnormalities

Clinical features from OMIM®:

614602 (Updated 20-May-2021)

UMLS symptoms related to Trichohepatoenteric Syndrome 2:


thin, sparse hair

Drugs & Therapeutics for Trichohepatoenteric Syndrome 2

Search Clinical Trials , NIH Clinical Center for Trichohepatoenteric Syndrome 2

Genetic Tests for Trichohepatoenteric Syndrome 2

Genetic tests related to Trichohepatoenteric Syndrome 2:

# Genetic test Affiliating Genes
1 Trichohepatoenteric Syndrome 2 29 SKIV2L

Anatomical Context for Trichohepatoenteric Syndrome 2

MalaCards organs/tissues related to Trichohepatoenteric Syndrome 2:

40
Liver

Publications for Trichohepatoenteric Syndrome 2

Articles related to Trichohepatoenteric Syndrome 2:

# Title Authors PMID Year
1
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. 57 6
22444670 2012
2
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
3
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
4
Tricho-hepato-enteric syndrome presenting with mild colitis. 57
18982349 2009
5
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea. 61
30844479 2019

Variations for Trichohepatoenteric Syndrome 2

ClinVar genetic disease variations for Trichohepatoenteric Syndrome 2:

6 (show top 50) (show all 95)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SKIV2L NM_006929.5(SKIV2L):c.848G>A (p.Trp283Ter) SNV Pathogenic 30069 rs751026211 GRCh37: 6:31929382-31929382
GRCh38: 6:31961605-31961605
2 SKIV2L NM_006929.5(SKIV2L):c.2572del (p.Gly857_Val858insTer) Deletion Pathogenic 30070 rs1582171003 GRCh37: 6:31935143-31935143
GRCh38: 6:31967366-31967366
3 SKIV2L NM_006929.5(SKIV2L):c.1635_1636insA (p.Gly546fs) Insertion Pathogenic 30071 rs1562659544 GRCh37: 6:31931498-31931499
GRCh38: 6:31963721-31963722
4 SKIV2L NM_006929.5(SKIV2L):c.2341-2A>G SNV Pathogenic 561107 rs781763471 GRCh37: 6:31934779-31934779
GRCh38: 6:31967002-31967002
5 SKIV2L NM_006929.5(SKIV2L):c.3561_3581del (p.Ser1189_Leu1195del) Deletion Pathogenic 800925 rs1582192007 GRCh37: 6:31937310-31937330
GRCh38: 6:31969533-31969553
6 SKIV2L NM_006929.5(SKIV2L):c.904C>T (p.Gln302Ter) SNV Pathogenic 869409 GRCh37: 6:31929438-31929438
GRCh38: 6:31961661-31961661
7 SKIV2L NM_006929.5(SKIV2L):c.2662_2663del (p.Arg888fs) Deletion Pathogenic 869410 GRCh37: 6:31935570-31935571
GRCh38: 6:31967793-31967794
8 SKIV2L NM_006929.5(SKIV2L):c.3187C>T (p.Arg1063Ter) SNV Pathogenic 1027691 GRCh37: 6:31936654-31936654
GRCh38: 6:31968877-31968877
9 SKIV2L NM_006929.5(SKIV2L):c.235C>T (p.Arg79Ter) SNV Pathogenic 1033166 GRCh37: 6:31927895-31927895
GRCh38: 6:31960118-31960118
10 SKIV2L NM_006929.5(SKIV2L):c.1404-2A>G SNV Likely pathogenic 929470 GRCh37: 6:31931188-31931188
GRCh38: 6:31963411-31963411
11 SKIV2L NM_006929.5(SKIV2L):c.1647+1G>A SNV Likely pathogenic 929471 GRCh37: 6:31931511-31931511
GRCh38: 6:31963734-31963734
12 SKIV2L NM_006929.5(SKIV2L):c.1297C>T (p.Arg433Cys) SNV Likely pathogenic 828128 rs750250320 GRCh37: 6:31930762-31930762
GRCh38: 6:31962985-31962985
13 SKIV2L NM_006929.5(SKIV2L):c.2977dup (p.Met993fs) Duplication Likely pathogenic 689443 rs1582187890 GRCh37: 6:31936222-31936223
GRCh38: 6:31968445-31968446
14 SKIV2L NM_006929.5(SKIV2L):c.757C>T (p.Arg253Ter) SNV Conflicting interpretations of pathogenicity 631978 rs768503878 GRCh37: 6:31929131-31929131
GRCh38: 6:31961354-31961354
15 SKIV2L NM_006929.5(SKIV2L):c.1120C>T (p.Arg374Ter) SNV Uncertain significance 235728 rs200818962 GRCh37: 6:31930271-31930271
GRCh38: 6:31962494-31962494
16 SKIV2L NM_006929.5(SKIV2L):c.3637dup (p.Ala1213fs) Duplication Uncertain significance 631979 rs1554292539 GRCh37: 6:31937382-31937383
GRCh38: 6:31969605-31969606
17 SKIV2L NM_006929.5(SKIV2L):c.422C>T (p.Ala141Val) SNV Uncertain significance 356315 rs146543642 GRCh37: 6:31928276-31928276
GRCh38: 6:31960499-31960499
18 SKIV2L NM_006929.5(SKIV2L):c.-14G>A SNV Uncertain significance 356309 rs886061304 GRCh37: 6:31926956-31926956
GRCh38: 6:31959179-31959179
19 SKIV2L NM_006929.5(SKIV2L):c.3719C>T (p.Ala1240Val) SNV Uncertain significance 356355 rs774251531 GRCh37: 6:31937470-31937470
GRCh38: 6:31969693-31969693
20 SKIV2L NM_006929.5(SKIV2L):c.1151C>T (p.Thr384Ile) SNV Uncertain significance 356324 rs886061307 GRCh37: 6:31930302-31930302
GRCh38: 6:31962525-31962525
21 SKIV2L NM_006929.5(SKIV2L):c.2703C>T (p.Leu901=) SNV Uncertain significance 356341 rs748012447 GRCh37: 6:31935611-31935611
GRCh38: 6:31967834-31967834
22 SKIV2L NM_006929.5(SKIV2L):c.901C>T (p.Pro301Ser) SNV Uncertain significance 356321 rs565958554 GRCh37: 6:31929435-31929435
GRCh38: 6:31961658-31961658
23 SKIV2L NM_006929.5(SKIV2L):c.2401A>G (p.Met801Val) SNV Uncertain significance 356338 rs369020218 GRCh37: 6:31934841-31934841
GRCh38: 6:31967064-31967064
24 SKIV2L NM_006929.5(SKIV2L):c.382G>A (p.Ala128Thr) SNV Uncertain significance 903950 GRCh37: 6:31928236-31928236
GRCh38: 6:31960459-31960459
25 SKIV2L NM_006929.5(SKIV2L):c.1927C>T (p.Leu643Phe) SNV Uncertain significance 904017 GRCh37: 6:31932075-31932075
GRCh38: 6:31964298-31964298
26 SKIV2L NM_006929.5(SKIV2L):c.1965G>C (p.Leu655=) SNV Uncertain significance 904018 GRCh37: 6:31932113-31932113
GRCh38: 6:31964336-31964336
27 SKIV2L NM_006929.5(SKIV2L):c.2052C>G (p.His684Gln) SNV Uncertain significance 904019 GRCh37: 6:31933640-31933640
GRCh38: 6:31965863-31965863
28 SKIV2L NM_006929.5(SKIV2L):c.990C>T (p.Val330=) SNV Uncertain significance 905832 GRCh37: 6:31929757-31929757
GRCh38: 6:31961980-31961980
29 SKIV2L NM_006929.5(SKIV2L):c.1020T>C (p.Val340=) SNV Uncertain significance 905833 GRCh37: 6:31929787-31929787
GRCh38: 6:31962010-31962010
30 SKIV2L NM_006929.5(SKIV2L):c.2442G>C (p.Trp814Cys) SNV Uncertain significance 905890 GRCh37: 6:31934882-31934882
GRCh38: 6:31967105-31967105
31 SKIV2L NM_006929.5(SKIV2L):c.2464C>G (p.Gln822Glu) SNV Uncertain significance 905891 GRCh37: 6:31934904-31934904
GRCh38: 6:31967127-31967127
32 SKIV2L NM_006929.5(SKIV2L):c.2479-7T>C SNV Uncertain significance 905892 GRCh37: 6:31935043-31935043
GRCh38: 6:31967266-31967266
33 SKIV2L NM_006929.5(SKIV2L):c.1132G>A (p.Gly378Arg) SNV Uncertain significance 906344 GRCh37: 6:31930283-31930283
GRCh38: 6:31962506-31962506
34 SKIV2L NM_006929.5(SKIV2L):c.1145T>A (p.Leu382Gln) SNV Uncertain significance 906345 GRCh37: 6:31930296-31930296
GRCh38: 6:31962519-31962519
35 SKIV2L NM_006929.5(SKIV2L):c.1177G>A (p.Ala393Thr) SNV Uncertain significance 906346 GRCh37: 6:31930328-31930328
GRCh38: 6:31962551-31962551
36 SKIV2L NM_006929.5(SKIV2L):c.1243C>T (p.Arg415Trp) SNV Uncertain significance 906347 GRCh37: 6:31930522-31930522
GRCh38: 6:31962745-31962745
37 SKIV2L NM_006929.5(SKIV2L):c.1341C>T (p.His447=) SNV Uncertain significance 906348 GRCh37: 6:31930806-31930806
GRCh38: 6:31963029-31963029
38 SKIV2L NM_006929.5(SKIV2L):c.2566T>C (p.Leu856=) SNV Uncertain significance 906408 GRCh37: 6:31935137-31935137
GRCh38: 6:31967360-31967360
39 SKIV2L NM_006929.5(SKIV2L):c.3213G>A (p.Ala1071=) SNV Uncertain significance 356347 rs374744199 GRCh37: 6:31936680-31936680
GRCh38: 6:31968903-31968903
40 SKIV2L NM_006929.5(SKIV2L):c.3430C>T (p.Arg1144Trp) SNV Uncertain significance 356350 rs146401600 GRCh37: 6:31937087-31937087
GRCh38: 6:31969310-31969310
41 SKIV2L NM_006929.5(SKIV2L):c.1694C>T (p.Ala565Val) SNV Uncertain significance 356327 rs746401418 GRCh37: 6:31931736-31931736
GRCh38: 6:31963959-31963959
42 SKIV2L NM_006929.5(SKIV2L):c.1890C>T (p.Arg630=) SNV Uncertain significance 356330 rs779331758 GRCh37: 6:31932038-31932038
GRCh38: 6:31964261-31964261
43 SKIV2L NM_006929.5(SKIV2L):c.120G>A (p.Glu40=) SNV Uncertain significance 356310 rs886061305 GRCh37: 6:31927171-31927171
GRCh38: 6:31959394-31959394
44 SKIV2L NM_006929.5(SKIV2L):c.3666G>A (p.Leu1222=) SNV Uncertain significance 356353 rs142860816 GRCh37: 6:31937417-31937417
GRCh38: 6:31969640-31969640
45 SKIV2L NM_006929.5(SKIV2L):c.2068C>T (p.Arg690Trp) SNV Uncertain significance 356333 rs751980634 GRCh37: 6:31933656-31933656
GRCh38: 6:31965879-31965879
46 SKIV2L NM_006929.5(SKIV2L):c.2446G>A (p.Glu816Lys) SNV Uncertain significance 356339 rs746407907 GRCh37: 6:31934886-31934886
GRCh38: 6:31967109-31967109
47 SKIV2L NM_006929.5(SKIV2L):c.954C>T (p.Ala318=) SNV Uncertain significance 356322 rs577271106 GRCh37: 6:31929721-31929721
GRCh38: 6:31961944-31961944
48 SKIV2L NM_006929.5(SKIV2L):c.3467A>T (p.Gln1156Leu) SNV Uncertain significance 356351 rs747936095 GRCh37: 6:31937124-31937124
GRCh38: 6:31969347-31969347
49 SKIV2L NM_006929.5(SKIV2L):c.3711C>T (p.Ile1237=) SNV Uncertain significance 356354 rs565424838 GRCh37: 6:31937462-31937462
GRCh38: 6:31969685-31969685
50 SKIV2L NM_006929.5(SKIV2L):c.132C>T (p.Pro44=) SNV Uncertain significance 356311 rs886061306 GRCh37: 6:31927792-31927792
GRCh38: 6:31960015-31960015

UniProtKB/Swiss-Prot genetic disease variations for Trichohepatoenteric Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 SKIV2L p.Val341Gly VAR_067721 rs281875237

Expression for Trichohepatoenteric Syndrome 2

Search GEO for disease gene expression data for Trichohepatoenteric Syndrome 2.

Pathways for Trichohepatoenteric Syndrome 2

GO Terms for Trichohepatoenteric Syndrome 2

Cellular components related to Trichohepatoenteric Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ski complex GO:0055087 8.62 TTC37 SKIV2L

Biological processes related to Trichohepatoenteric Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.96 TTC37 SKIV2L
2 RNA catabolic process GO:0006401 8.62 TTC37 SKIV2L

Sources for Trichohepatoenteric Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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