MCID: RTH001
MIFTS: 56

Rothmund-Thomson Syndrome malady

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

Aliases & Classifications for Rothmund-Thomson Syndrome

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Aliases & Descriptions for Rothmund-Thomson Syndrome:

Name: Rothmund-Thomson Syndrome 49 10 11 21 45 22 23 47 12 67 36 24 65
Rts 10 45 23 67
Poikiloderma Atrophicans and Cataract 45 23
Poikiloderma Congenitale 45 23
 
Congenital Poikiloderma 10 23
Poikiloderma Congenitale of Rothmund-Thomson 23
Poikiloderma of Rothmund-Thomson 45
Erythrokeratodermia Variabilis 65

Characteristics:

HPO:

61
rothmund-thomson syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 268400
Disease Ontology10 DOID:2732
ICD1027 Q82.8
MeSH36 D011038
NCIt42 C3335
MedGen34 C0032339
UMLS65 C0032339

Summaries for Rothmund-Thomson Syndrome

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NIH Rare Diseases:45 Rothmund-thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma. gastrointestinal problems or blood disorders may also occur. it is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the recql4 gene. in some cases, the genetic cause is unknown. treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer. last updated: 3/10/2016

MalaCards based summary: Rothmund-Thomson Syndrome, also known as rts, is related to baller-gerold syndrome and rothmund-thomson syndrome type 1, and has symptoms including abnormal hair quantity, abnormal blistering of the skin and aplasia/hypoplasia of the skin. An important gene associated with Rothmund-Thomson Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways are Prion diseases and Melanocyte Development and Pigmentation. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are tumorigenesis and embryo.

Genetics Home Reference:23 Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.

OMIM:49 Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper-... (268400) more...

UniProtKB/Swiss-Prot:67 Rothmund-Thomson syndrome: Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.

Wikipedia:68 Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma... more...

GeneReviews summary for NBK1237

Related Diseases for Rothmund-Thomson Syndrome

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Graphical network of the top 20 diseases related to Rothmund-Thomson Syndrome:



Diseases related to rothmund-thomson syndrome

Symptoms for Rothmund-Thomson Syndrome

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Symptoms by clinical synopsis from OMIM:

268400

Clinical features from OMIM:

268400

HPO human phenotypes related to Rothmund-Thomson Syndrome:

(show all 100)
id Description Frequency HPO Source Accession
1 abnormal hair quantity hallmark (90%) HP:0011362
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
4 irregular hyperpigmentation hallmark (90%) HP:0007400
5 short stature hallmark (90%) HP:0004322
6 hypopigmented skin patches hallmark (90%) HP:0001053
7 poikiloderma hallmark (90%) HP:0001029
8 cutaneous photosensitivity hallmark (90%) HP:0000992
9 cutis marmorata hallmark (90%) HP:0000965
10 skin ulcer typical (50%) HP:0200042
11 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
12 cognitive impairment typical (50%) HP:0100543
13 sarcoma typical (50%) HP:0100242
14 external ear malformation typical (50%) HP:0008572
15 opacification of the corneal stroma typical (50%) HP:0007759
16 abnormality of the hip bone typical (50%) HP:0003272
17 scoliosis typical (50%) HP:0002650
18 frontal bossing typical (50%) HP:0002007
19 joint hypermobility typical (50%) HP:0001382
20 limitation of joint mobility typical (50%) HP:0001376
21 joint dislocation typical (50%) HP:0001373
22 abnormality of the fingernails typical (50%) HP:0001231
23 hyperkeratosis typical (50%) HP:0000962
24 dry skin typical (50%) HP:0000958
25 carious teeth typical (50%) HP:0000670
26 cataract typical (50%) HP:0000518
27 deeply set eye typical (50%) HP:0000490
28 micrognathia typical (50%) HP:0000347
29 short philtrum typical (50%) HP:0000322
30 hypertelorism typical (50%) HP:0000316
31 epicanthus typical (50%) HP:0000286
32 microcephaly typical (50%) HP:0000252
33 abnormality of the genital system typical (50%) HP:0000078
34 decreased corneal thickness occasional (7.5%) HP:0100689
35 abnormal immunoglobulin level occasional (7.5%) HP:0010701
36 reduced number of teeth occasional (7.5%) HP:0009804
37 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
38 neoplasm of the skin occasional (7.5%) HP:0008069
39 neoplasm of the stomach occasional (7.5%) HP:0006753
40 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
41 patellar aplasia occasional (7.5%) HP:0006443
42 abnormality of the sacrum occasional (7.5%) HP:0005107
43 reduced bone mineral density occasional (7.5%) HP:0004349
44 abnormality of the ulna occasional (7.5%) HP:0002997
45 myelodysplasia occasional (7.5%) HP:0002863
46 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
47 premature graying of hair occasional (7.5%) HP:0002216
48 abnormality of the bronchi occasional (7.5%) HP:0002109
49 malabsorption occasional (7.5%) HP:0002024
50 pyloric stenosis occasional (7.5%) HP:0002021
51 nausea and vomiting occasional (7.5%) HP:0002017
52 anemia occasional (7.5%) HP:0001903
53 abnormality of neutrophils occasional (7.5%) HP:0001874
54 craniosynostosis occasional (7.5%) HP:0001363
55 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
56 abnormality of the adrenal glands occasional (7.5%) HP:0000834
57 hypertension occasional (7.5%) HP:0000822
58 ptosis occasional (7.5%) HP:0000508
59 glaucoma occasional (7.5%) HP:0000501
60 sensorineural hearing impairment occasional (7.5%) HP:0000407
61 oral cleft occasional (7.5%) HP:0000202
62 nephropathy occasional (7.5%) HP:0000112
63 kyphoscoliosis rare (5%) HP:0002751
64 congenital hip dislocation rare (5%) HP:0001374
65 intellectual disability rare (5%) HP:0001249
66 small hand HP:0200055
67 increased number of teeth HP:0011069
68 short thumb HP:0009778
69 sparse hair HP:0008070
70 juvenile zonular cataracts HP:0007713
71 forearm reduction defects HP:0006368
72 agenesis of permanent teeth HP:0006349
73 dermal atrophy HP:0004334
74 short stature HP:0004322
75 short palm HP:0004279
76 short nose HP:0003196
77 squamous cell carcinoma HP:0002860
78 basal cell carcinoma HP:0002671
79 osteosarcoma HP:0002669
80 premature graying of hair HP:0002216
81 frontal bossing HP:0002007
82 short foot HP:0001773
83 talipes equinovarus HP:0001762
84 annular pancreas HP:0001734
85 abnormality of the nail HP:0001597
86 alopecia HP:0001596
87 anteriorly placed anus HP:0001545
88 poikiloderma HP:0001029
89 telangiectasia HP:0001009
90 cutaneous photosensitivity HP:0000992
91 osteoporosis HP:0000939
92 microdontia HP:0000691
93 delayed eruption of teeth HP:0000684
94 microphthalmia HP:0000568
95 glaucoma HP:0000501
96 strabismus HP:0000486
97 microcornea HP:0000482
98 mandibular prognathia HP:0000303
99 hypogonadism HP:0000135
100 cryptorchidism HP:0000028

UMLS symptoms related to Rothmund-Thomson Syndrome:


exanthema

Drugs & Therapeutics for Rothmund-Thomson Syndrome

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Drugs for Rothmund-Thomson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Calcium, Dietary4678

Interventional clinical trials:

idNameStatusNCT IDPhase
1Calcium Absorption in Patients With Rothmund-Thomson SyndromeEnrolling by invitationNCT01304407

Search NIH Clinical Center for Rothmund-Thomson Syndrome


Cochrane evidence based reviews: rothmund-thomson syndrome

Genetic Tests for Rothmund-Thomson Syndrome

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Genetic tests related to Rothmund-Thomson Syndrome:

id Genetic test Affiliating Genes
1 Rothmund-Thomson Syndrome22 RECQL4

Anatomical Context for Rothmund-Thomson Syndrome

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MalaCards organs/tissues related to Rothmund-Thomson Syndrome:

33
Skin, Bone, Eye, Adrenal gland, Prostate, Neutrophil, Breast

Animal Models for Rothmund-Thomson Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Rothmund-Thomson Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.1BLM, EP300, MAPK1, RECQL4, WRN
2MP:00053807.2BLM, CDC45, DDX11, EP300, HELLS, MAPK1
3MP:00053846.0BLM, CDC45, DDX11, EP300, HELLS, MAPK1

Publications for Rothmund-Thomson Syndrome

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Articles related to Rothmund-Thomson Syndrome:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype? (25751344)
2015
2
Leg ulcer in a patient with Rothmund-Thomson syndrome. (26543707)
2015
3
The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis. (24960165)
2014
4
Atypical plantar keratoderma, pachyonychia and clinodactyly in a patient with Rothmund-Thomson syndrome. (25266359)
2014
5
Rothmund-thomson syndrome: a 13-year follow-up. (25120469)
2014
6
Delayed Union of a Jones Fracture in a Patient With Rothmund-Thomson Syndrome: A Case Report and Review of the Literature. (25441286)
2014
7
Rothmund-Thomson Syndrome and Glomerulonephritis in a Homozygous C1q-Deficient Patient Due to a Gly164Ser C1qC Mutation. (24157463)
2013
8
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. (20817924)
2010
9
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review. (20503338)
2010
10
p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (19299466)
2009
11
Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (18755177)
2008
12
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents. (18504617)
2008
13
Short root anomaly associated with Rothmund-Thomson syndrome. (17178481)
2007
14
Late-onset Rothmund-Thomson syndrome. (17472679)
2007
15
Rothmund-thomson syndrome: more than just a cosmetic concern. (17686357)
2007
16
Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease. (16998609)
2006
17
Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome. (16214424)
2006
18
Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. (15703196)
2005
19
Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma. (15197508)
2004
20
Infantile glaucoma in a patient with Rothmund-Thomson syndrome. (15559657)
2004
21
Rothmund-Thomson syndrome in a young man without cataract involvement. (16201731)
2004
22
Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. (11979727)
2002
23
Variable presentation of Rothmund-Thomson syndrome. (11102924)
2000
24
Overlap between Baller-Gerold and Rothmund-Thomson syndrome. (11045594)
2000
25
Corneal subepithelial nodular scarring treated with phototherapeutic keratectomy in a child with Rothmund-Thomson syndrome. (10632020)
2000
26
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. (10678659)
2000
27
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. (9679749)
1998
28
Photosensitivity and the Rothmund-Thomson syndrome. (9990387)
1998
29
Increased susceptibility to apoptosis induced by anti-Fas antibody in a Rothmund-Thomson syndrome lymphoblastoid cell line. (9625528)
1998
30
Treatment of the cutaneous vascular component of the Rothmund-Thomson syndrome. (9122083)
1996
31
Rothmund-Thomson syndrome and osteosarcoma. (8614379)
1996
32
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (8950673)
1996
33
Rothmund-Thomson syndrome and malignant fibrous histiocytoma: a case report. (7703036)
1995
34
Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. (7966195)
1994
35
Rothmund-Thomson syndrome with osteosarcoma. (8436644)
1993
36
Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report. (8346112)
1993
37
A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. (8447670)
1993
38
Rothmund-Thomson syndrome: review of the world literature. (1430398)
1992
39
"Isolated" radial ray defect may be due to Rothmund-Thomson syndrome. (2268978)
1990
40
"New" syndrome with telangiectasia, dwarfism, and spondyloepiphyseal dysplasia may be Rothmund-Thomson syndrome. (2343014)
1990
41
The poikiloderma of Rothmund-Thomson syndrome: changes in Langerhans cell morphology and distribution. (2533569)
1989
42
Rothmund-Thomson syndrome: a case report. (2616389)
1989
43
Epidermal dysplasia and skeletal deformity in congenital poikiloderma (Rothmund-Thomson syndrome). (3676086)
1987
44
Familial C1q deficiency in 3 siblings with glomerulonephritis and Rothmund-Thomson syndrome. (7029321)
1981
45
Osteosarcoma in a boy with Rothmund-Thomson syndrome. (6932639)
1980
46
Rothmund-Thomson syndrome: a case report. (7447817)
1980
47
Rothmund-Thomson syndrome: an oculocutaneous disorder. (5902033)
1966
48
Rothmund-Thomson syndrome. (5841581)
1965
49
Poikiloderma congenitale; Rothmund-Thomson syndrome. (14438710)
1959
50

Variations for Rothmund-Thomson Syndrome

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Clinvar genetic disease variations for Rothmund-Thomson Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs794726912GRCh38Chr 8, 144517703: 144517703
2RECQL4NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh38Chr 8, 144516070: 144516071
3RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
4RECQL4NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
5RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
6RECQL4NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Tsingle nucleotide variantPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
9RECQL4NM_004260.3(RECQL4): c.1391-1G> Asingle nucleotide variantPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
10RECQL4NM_004260.3(RECQL4): c.2059-1G> Csingle nucleotide variantPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
11RECQL4NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
12RECQL4NM_004260.3(RECQL4): c.1704+1G> Asingle nucleotide variantPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
13RECQL4NM_004260.3(RECQL4): c.2464-1G> Csingle nucleotide variantPathogenicrs398124117GRCh37Chr 8, 145738522: 145738522

Cosmic variations for Rothmund-Thomson Syndrome:

7
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1COSM580NRASskin,upper leg,benign melanocytic nevus,congenital7
2COSM584NRASskin,upper leg,benign melanocytic nevus,congenital7

Expression for genes affiliated with Rothmund-Thomson Syndrome

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

Pathways for genes affiliated with Rothmund-Thomson Syndrome

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GO Terms for genes affiliated with Rothmund-Thomson Syndrome

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Cellular components related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.9BLM, CDC45, DDX11, WRN

Biological processes related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1base-excision repairGO:000628410.2RECQL4, WRN
2replication fork processingGO:003129710.1BLM, WRN
3double-strand break repair via synthesis-dependent strand annealingGO:004500310.0BLM, WRN
4strand displacementGO:000073210.0BLM, WRN
5DNA strand renaturationGO:000073310.0BLM, RECQL, RECQL4
6regulation of signal transduction by p53 class mediatorGO:19017969.4BLM, EP300, WRN
7DNA replicationGO:00062609.4BLM, RECQL5, WRN
8double-strand break repair via homologous recombinationGO:00007249.3BLM, RECQL, RECQL5, WRN
9cellular response to DNA damage stimulusGO:00069748.7BLM, MAPK1, WRN

Molecular functions related to Rothmund-Thomson Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
13-5 DNA helicase activityGO:004313810.3CDC45, WRN
2DNA helicase activityGO:000367810.2RECQL5, WRN
3ATP-dependent helicase activityGO:000802610.0BLM, RECQL4, WRN
4four-way junction helicase activityGO:00093789.9RECQL, RECQL5, WRN
5hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168189.8BLM, DDX11
6ATP-dependent DNA helicase activityGO:00040039.7DDX11, RECQL
7nucleic acid bindingGO:00036769.0DDX11, RECQL, RECQL5, WRN
8DNA bindingGO:00036778.3BLM, MAPK1, RECQL, RECQL5, WRN

Sources for Rothmund-Thomson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet