MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:12333
Name:TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
Definition:
Alternative IDs:DO:DOID:2960
ParentIDs:MESH:D004476|MESH:D006201|MESH:D008607|MESH:D009260|MESH:D010787|MESH:D054463
TreeNumbers:C10.597.606.360/601675 |C16.131.077.350/601675 |C16.131.077.899/601675 |C16.131.831.350/601675 |C16.131.831.874/601675 |C16.320.850.250/601675 |C16.320.850.895/601675 |C17.800.329/601675 |C17.800.529/601675 |C17.800.600/601675 |C17.800.804.350/601675 |C17.800.804.8
Synonyms:ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION |PIBIDS SYNDROME |TAY SYNDROME |TRICHOTHIODYSTROPHY, PHOTOSENSITIVE |TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS;ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY |TTD1 |TTDP
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease
Reference: MedGen: 601675
MeSH: 601675
OMIM: 601675;
MSeqDR LSDB:  
Genes: ERCC2; ERCC3; GTF2H5;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0010719Abnormality of hair texture
3 HP:0000271Abnormality of the face
4 HP:0000765Abnormality of the thorax
5 HP:0002099Asthma
6 HP:0002671Basal cell carcinoma
7 HP:0002299Brittle hair
8 HP:0000518Cataract
NAMDC:  Cataracts
9 HP:0002028Chronic diarrhea
10 HP:0007479Congenital nonbullous ichthyosiform erythroderma
11 HP:0000992Cutaneous photosensitivity
12 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
13 HP:0000958Dry skin
14 HP:0001019Erythroderma
15 HP:0002213Fine hair
16 HP:0001371Flexion contracture
17 HP:0001808Fragile nails
18 HP:0001480Freckling
19 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
20 HP:0004315IgG deficiency
21 HP:0001249Intellectual disability
22 HP:0005214Intestinal obstruction
23 HP:0001097Keratoconjunctivitis siccaHP:0040283
24 HP:0007519Lack of subcutaneous fatty tissue
25 HP:0002024Malabsorption
26 HP:0000252Microcephaly
27 HP:0000482MicrocorneaHP:0040283
28 HP:0000568MicrophthalmiaHP:0040283
29 HP:0008404Nail dystrophy
30 HP:0000639Nystagmus
31 HP:0000613Photophobia
32 HP:0000411Protruding earHP:0040283
33 HP:0002719Recurrent infections
34 HP:0000278Retrognathia
35 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
36 HP:0001518Small for gestational age
37 HP:0001792Small nail
38 HP:0008070Sparse hair
39 HP:0002860Squamous cell carcinoma
40 HP:0000486Strabismus
41 HP:0009886Trichorrhexis nodosa
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)2068ERCC2Conflicting interpretations of pathogenicity-1RCV001761786|RCV001788837|RCV002077207; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585497545854975TC45854975-
NM_000400.4(ERCC2):c.2191-4G>A2068ERCC2Conflicting interpretations of pathogenicityrs201840907RCV000967520|RCV001135983|RCV001294171; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585498345854983CT19:g.45854983C>T-
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)2068ERCC2Pathogenicrs121913018RCV000018270|RCV001851906; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585548445855484CG19:g.45855484C>GClinGen:CA126881,UniProtKB:P18074#VAR_003631,OMIM:126340.0003C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)2068ERCC2Pathogenicrs121913026RCV000018283|RCV000255624|RCV000677676|RCV000763052|RCV001199920|RCV001265586|RCV001449816; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364,Or194585549345855493GA19:g.45855493G>AClinGen:CA126893,UniProtKB:P18074#VAR_003630,OMIM:126340.0014C1853102 610756 Cerebrooculofacioskeletal syndrome 2;
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)2068ERCC2Conflicting interpretations of pathogenicityrs144564120RCV000120774|RCV000255243|RCV000761018|RCV000990227|RCV000778547|RCV001329855; NMedGen:CN169374|MedGen:CN517202|MedGen:C2826055|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN239291|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585550745855507GC19:g.45855507G>CClinGen:CA158773CN517202 not provided;
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg)2068ERCC2Pathogenicrs121913022RCV000018276; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585552045855520CG19:g.45855520C>GClinGen:CA126887,UniProtKB:P18074#VAR_008199,OMIM:126340.0008C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)2068ERCC2Benignrs1052555RCV000249244|RCV000334441|RCV001514551|RCV001658170|RCV001658171; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585552445855524GA19:g.45855524G>AClinGen:CA9512874CN169374 not specified;
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)2068ERCC2Pathogenic/Likely pathogenicrs41556519RCV000018284|RCV000518900|RCV000623275|RCV000763053; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670; MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,194585561045855610GA19:g.45855610G>AClinGen:CA257630,UniProtKB:P18074#VAR_008198,OMIM:126340.0015C0950123 Inborn genetic diseases;
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)2068ERCC2Pathogenicrs121913021RCV000018275; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585583845855838GA19:g.45855838G>AClinGen:CA126885,UniProtKB:P18074#VAR_008194,OMIM:126340.0007C1866504 601675 Trichothiodystrophy 1, photosensitive;
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)2068ERCC2Likely pathogenic-1RCV001799560; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585583845855838GC45855838-
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile)2068ERCC2Uncertain significance-1RCV001788953|RCV002034629; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585585245855852GA45855852-
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)2068ERCC2Uncertain significancers200665173RCV000120771|RCV000662070|RCV000662071|RCV000662069|RCV000764209|RCV001329853|RCV001854613; NMedGen:CN169374|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:00111194585601945856019CG19:g.45856019C>GClinGen:CA158764C0220722 214150 Cerebro-oculo-facio-skeletal syndrome;
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)2068ERCC2Pathogenicrs376556895RCV000312948|RCV000489442|RCV000763054|RCV001195426; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:00196194585605945856059CGNC_000019.9:g.45856059C>GClinGen:CA9513025,UniProtKB:P18074#VAR_003626C1853102 610756 Cerebrooculofacioskeletal syndrome 2;
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)2068ERCC2Uncertain significancers376556895RCV001292729|RCV001780237; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585605945856059CT45856059-
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg)2068ERCC2Uncertain significance-1RCV001788967; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585606345856063CT45856063-
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)2068ERCC2Uncertain significancers759116129RCV001131685|RCV001292642; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585607445856074AG19:g.45856074A>G-
NM_000400.4(ERCC2):c.1832-3C>G2068ERCC2Uncertain significancers1971859134RCV001292783|RCV001863173; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585607745856077GC45856077-
NM_000400.4(ERCC2):c.1758+32C>G2068ERCC2Benignrs238417RCV000253904|RCV001658167|RCV001658169|RCV001682974|RCV001658168; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194585646845856468GC19:g.45856468G>CClinGen:CA9513108CN169374 not specified;
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)2068ERCC2Uncertain significancers1972045362RCV001294170; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586058145860582CCTCCAGGATCTT45860581-
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)2068ERCC2Conflicting interpretations of pathogenicityrs121913016RCV000018267|RCV000120764|RCV000171546|RCV000897210; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN169374|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194586062645860626GC19:g.45860626G>CClinGen:CA158746,UniProtKB:P18074#VAR_003623,OMIM:126340.0001CN169374 not specified;
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)2068ERCC2Conflicting interpretations of pathogenicityrs141457460RCV001136105|RCV001294169; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586077045860770CT19:g.45860770C>T-
NM_000400.4(ERCC2):c.1238-1192G>A2068ERCC2Uncertain significancers180850149RCV001292819; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586214945862149CT45862149-
NM_000400.4(ERCC2):c.1119-85G>A2068ERCC2Uncertain significancers148028467RCV001292605; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586498545864985CT45864985-
NM_000400.4(ERCC2):c.1118+4C>T2068ERCC2Uncertain significance-1RCV001834549; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586699745866997GA45866997-
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)2068ERCC2Benign/Likely benignrs1799793RCV000120789|RCV000990231|RCV001514552|RCV001657759|RCV001657760; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586725945867259CT19:g.45867259C>TClinGen:CA158818,UniProtKB:P18074#VAR_011414CN169374 not specified;
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)2068ERCC2Uncertain significancers137910235RCV000120788|RCV000224777|RCV001262008|RCV001294173; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586772145867721GA19:g.45867721G>AClinGen:CA158815CN517202 not provided;
NM_000400.4(ERCC2):c.595-10G>A2068ERCC2Uncertain significancers761737358RCV001331198|RCV001871815; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194586781545867815CT45867815-
NM_000400.4(ERCC2):c.594+2_594+5del2068ERCC2Pathogenic/Likely pathogenicrs762309206RCV000454337|RCV000454224|RCV000599593; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586809145868094CCTCAC19:g.45868091_45868094delClinGen:CA9513732CN517202 not provided;
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)2068ERCC2Uncertain significancers139884931RCV001294172|RCV001863180; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194586813745868137GA45868137-
NM_000400.4(ERCC2):c.491A>G (p.His164Arg)2068ERCC2Uncertain significance-1RCV001788959; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586819945868199TC45868199-
NM_000400.4(ERCC2):c.468A>C (p.Arg156=)2068ERCC2Benignrs238406RCV000242247|RCV000323397|RCV001658176|RCV001514553|RCV001658175; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194586830945868309TG19:g.45868309T>GClinGen:CA9513781CN169374 not specified;
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)2068ERCC2Pathogenicrs121913020RCV000018273|RCV000018274|RCV000424822; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587191345871913CT19:g.45871913C>TClinGen:CA126883,UniProtKB:P18074#VAR_003622,OMIM:126340.0006CN517202 not provided;
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)2068ERCC2Likely pathogenicrs760820378RCV001329857; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194587191445871914GA45871914-
NM_000400.4(ERCC2):c.247-35G>A2068ERCC2Benignrs1799783RCV000250105|RCV001618382|RCV001658172|RCV001658174|RCV001658173; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194587203645872036CT19:g.45872036C>TClinGen:CA9513854CN169374 not specified;
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)2068ERCC2Conflicting interpretations of pathogenicityrs147972150RCV000120770|RCV000893772|RCV001292799|RCV001136196|RCV001329858; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194587344945873449TC19:g.45873449T>CClinGen:CA158761CN169374 not specified;
NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)136647MPLKIPPathogenicrs768342562RCV000202381; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:67074017269240172693GGT7:g.40172692_40172693insTClinGen:CA211162C1866504 601675 Trichothiodystrophy 1, photosensitive;
MSeqDR Portal