MCID: RTH005
MIFTS: 19

Rothmund-Thomson Syndrome Type 2

Categories: Eye diseases, Skin diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Rothmund-Thomson Syndrome Type 2

Summaries for Rothmund-Thomson Syndrome Type 2

MalaCards based summary : Rothmund-Thomson Syndrome Type 2, is also known as poikiloderma of rothmund-thomson type 2. An important gene associated with Rothmund-Thomson Syndrome Type 2 is RECQL4 (RecQ Like Helicase 4). Affiliated tissues include skin and eye, and related phenotypes are hypogonadism and cataract

Related Diseases for Rothmund-Thomson Syndrome Type 2

Diseases in the Rothmund-Thomson Syndrome family:

Rothmund-Thomson Syndrome Type 1 Rothmund-Thomson Syndrome Type 2

Symptoms & Phenotypes for Rothmund-Thomson Syndrome Type 2

Human phenotypes related to Rothmund-Thomson Syndrome Type 2:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
4 hypoplasia of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000685
5 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
6 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
7 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
8 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
9 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
10 poikiloderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001029
11 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
12 neutropenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001875
13 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
14 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
15 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
16 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
17 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
18 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
19 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
20 osteosarcoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002669
21 basal cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002671
22 squamous cell carcinoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002860
23 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
24 hypoplasia of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002984
25 prematurely aged appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0007495
26 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
27 short thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009778
28 concave nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0011120

Drugs & Therapeutics for Rothmund-Thomson Syndrome Type 2

Search Clinical Trials , NIH Clinical Center for Rothmund-Thomson Syndrome Type 2

Genetic Tests for Rothmund-Thomson Syndrome Type 2

Anatomical Context for Rothmund-Thomson Syndrome Type 2

MalaCards organs/tissues related to Rothmund-Thomson Syndrome Type 2:

41
Skin, Eye

Publications for Rothmund-Thomson Syndrome Type 2

Variations for Rothmund-Thomson Syndrome Type 2

Expression for Rothmund-Thomson Syndrome Type 2

Search GEO for disease gene expression data for Rothmund-Thomson Syndrome Type 2.

Pathways for Rothmund-Thomson Syndrome Type 2

GO Terms for Rothmund-Thomson Syndrome Type 2

Sources for Rothmund-Thomson Syndrome Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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