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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Hair Diseases (D006201)
Parent Node: Intellectual Disability (D008607)
Parent Node: Nail Diseases (D009260)
Parent Node: Photosensitivity Disorders (D010787)
Parent Node: Trichothiodystrophy Syndromes (D054463)
..Starting node ..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
Child Nodes:
Sister Nodes:
..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
..Sabinas brittle hair syndrome (C536320)
..Trichorrhexis nodosa syndrome (C536556)
..Trichothiodystrophy with Sun Sensitivity (C564733)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11248

Name:

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C10.597.606.643/601675 |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:

IBIDS SYNDROME, INCLUDED |ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED |RETARDATION, INCLUDED |TAY SYNDROME, INCLUDED |TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED

Slim Mappings:

Reference:

MedGen: 601675
MeSH: 601675
OMIM: 601675;

Genes: ERCC2; ERCC3; GTF2H5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000765	Abnormal thorax morphology
3	HP:0010719	Abnormality of hair texture
4	HP:0000271	Abnormality of the face
5	HP:0002099	Asthma
6	HP:0002671	Basal cell carcinoma
7	HP:0002299	Brittle hair
8	HP:0000518	Cataract
9	HP:0002028	Chronic diarrhea
10	HP:0007479	Congenital nonbullous ichthyosiform erythroderma
11	HP:0000992	Cutaneous photosensitivity
12	HP:0004315	Decreased circulating IgG level
13	HP:0000750	Delayed speech and language development
14	HP:0000958	Dry skin
15	HP:0001019	Erythroderma
16	HP:0002213	Fine hair
17	HP:0001371	Flexion contracture
18	HP:0001808	Fragile nails
19	HP:0001480	Freckling
20	HP:0000135	Hypogonadism
21	HP:0001249	Intellectual disability
22	HP:0005214	Intestinal obstruction
23	HP:0001097	Keratoconjunctivitis sicca	HP:0040283
24	HP:0002024	Malabsorption
25	HP:0000252	Microcephaly
26	HP:0000482	Microcornea	HP:0040283
27	HP:0000568	Microphthalmia	HP:0040283
28	HP:0008404	Nail dystrophy
29	HP:0000639	Nystagmus
30	HP:0007519	obsolete Lack of subcutaneous fatty tissue
31	HP:0000613	Photophobia
32	HP:0000411	Protruding ear	HP:0040283
33	HP:0002719	Recurrent infections
34	HP:0000278	Retrognathia
35	HP:0004322	Short stature
36	HP:0001518	Small for gestational age
37	HP:0001792	Small nail
38	HP:0008070	Sparse hair
39	HP:0002860	Squamous cell carcinoma
40	HP:0000486	Strabismus
41	HP:0009886	Trichorrhexis nodosa

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro)	2068	ERCC2	Pathogenic	121913018	RCV000018270;	N	MedGen:C1866504,OMIM:601675	19	45855484	45855484	NM_000400.3:c.2173G>C	NP_000391.1:p.Ala725Pro	NC_000019.9:g.45855484C>G	OMIM Allelic Variant:126340.0003	C1866504 601675 Photosensitive trichothiodystrophy
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp)	2068	ERCC2	Pathogenic	121913026	RCV000018283;	N	MedGen:C1866504,OMIM:601675	19	45855493	45855493	NM_000400.3:c.2164C>T	NP_000391.1:p.Arg722Trp	NC_000019.9:g.45855493G>A	OMIM Allelic Variant:126340.0014	C1866504 601675 Photosensitive trichothiodystrophy
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg)	2068	ERCC2	Pathogenic	121913022	RCV000018276;	N	MedGen:C1866504,OMIM:601675	19	45855520	45855520	NM_000400.3:c.2137G>C	NP_000391.1:p.Gly713Arg	NC_000019.9:g.45855520C>G	OMIM Allelic Variant:126340.0008	C1866504 601675 Photosensitive trichothiodystrophy
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys)	2068	ERCC2	Pathogenic	121913021	RCV000018275;	N	MedGen:C1866504,OMIM:601675	19	45855838	45855838	NM_000400.3:c.1972C>T	NP_000391.1:p.Arg658Cys	NC_000019.9:g.45855838G>A	OMIM Allelic Variant:126340.0007	C1866504 601675 Photosensitive trichothiodystrophy
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val)	2068	ERCC2	Pathogenic	121913016	RCV000018267; RCV000171546; RCV000120764;	N	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004; MedGen:C1866504,OMIM:601675; MedGen:CN169374	19	45860626	45860626	NM_000400.3:c.1381C>G	NP_000391.1:p.Leu461Val	NC_000019.9:g.45860626G>C	OMIM Allelic Variant:126340.0001	CN169374 not specified; C1866504 601675 Photosensitive trichothiodystrophy; C0268138 278730 Xeroderma pigmentosum, group D
NM_000400.3(ERCC2):c.335G>A (p.Arg112His)	2068	ERCC2	Pathogenic	121913020	RCV000018274; RCV000018273;	N	MedGen:C0268138,OMIM:278730,SNOMED CT:68637004; MedGen:C1866504,OMIM:601675	19	45871913	45871913	NM_000400.3:c.335G>A	NP_000391.1:p.Arg112His	NC_000019.9:g.45871913C>T	OMIM Allelic Variant:126340.0006	C1866504 601675 Photosensitive trichothiodystrophy; C0268138 278730 Xeroderma pigmentosum, group D
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro)	404672	GTF2H5	Pathogenic	121434365	RCV000002185;	N	MedGen:C1866504,OMIM:601675	6	158613035	158613035	NM_207118.2:c.62T>C	NP_997001.1:p.Leu21Pro	NC_000006.11:g.158613035T>C	OMIM Allelic Variant:608780.0002	C1866504 601675 Photosensitive trichothiodystrophy
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter)	404672	GTF2H5	Pathogenic	121434364	RCV000002184;	N	MedGen:C1866504,OMIM:601675	6	158613139	158613139	NM_207118.2:c.166C>T	NP_997001.1:p.Arg56Ter	NC_000006.11:g.158613139C>T	OMIM Allelic Variant:608780.0001	C1866504 601675 Photosensitive trichothiodystrophy
NM_138701.3(MPLKIP):c.505dupA (p.Thr169Asnfs)	136647	MPLKIP	Pathogenic	768342562	RCV000202381;	N	MedGen:C1866504,OMIM:601675	7	40172693	40172693	NM_138701.3:c.505dupA	NP_619646.1:p.Thr169Asnfs	NC_000007.13:g.40172693dupT	-	C1866504 601675 Photosensitive trichothiodystrophy