PedAM

Pediatric Disease Annotations & Medicines


	rothmund-thomson syndrome

Disease ID	108
Disease	rothmund-thomson syndrome
Definition	An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.
Synonym	congenital poikiloderma congenitale, poikiloderma congenitales, poikiloderma poikiloderma atrophicans and cataract poikiloderma congen poikiloderma congenitale poikiloderma congenitale of rothmund-thomson poikiloderma congenitale syndrome poikiloderma congenitales poikiloderma of rothmund thomson poikiloderma of rothmund-thomson poikiloderma, congenital rothmund thomson syndrome rothmund-thomson poikiloderma rothmund-thomson poikilodermas rothmund-thomson syndrome (disorder) rothmund-thomson syndrome [disease/finding] rts syndrome, rothmund-thomson
Orphanet	ORPHANET:2909
OMIM	OMIM:268400 OMIM:607427
DOID	DOID:2732
UMLS	C0032339
MeSH	D011038
SNOMED-CT	SNOMEDCT_US_2016_09_01:69093006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0029463 \| osteosarcoma \| 2 C0008049 \| varicella infection \| 1 C0026985 \| myelodysplasia \| 1 C0008049 \| varicella \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) ENOSF1 \| 55556 \| OMIM RECQL4 \| 9401 \| CLINVAR;CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 9401 \| RECQL4 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 2067 \| ERCC1 \| DISEASES 328 \| APEX1 \| DISEASES 55612 \| FERMT1 \| DISEASES 79650 \| USB1 \| DISEASES 81576 \| CCDC130 \| DISEASES 51053 \| GMNN \| DISEASES 6431 \| SRSF6 \| DISEASES 3237 \| HOXD11 \| DISEASES 9253 \| NUMBL \| DISEASES 51455 \| REV1 \| DISEASES 6426 \| SRSF1 \| DISEASES 83990 \| BRIP1 \| DISEASES 27443 \| CECR2 \| DISEASES 4924 \| NUCB1 \| DISEASES 4171 \| MCM2 \| DISEASES 5423 \| POLB \| DISEASES 57697 \| FANCM \| DISEASES 2588 \| GALNS \| DISEASES 7157 \| TP53 \| DISEASES 84296 \| GINS4 \| DISEASES 7013 \| TERF1 \| DISEASES 472 \| ATM \| DISEASES 2071 \| ERCC3 \| DISEASES 197131 \| UBR1 \| DISEASES 10898 \| CPSF4 \| DISEASES 85477 \| SCIN \| DISEASES 7486 \| WRN \| DISEASES 2237 \| FEN1 \| DISEASES 4176 \| MCM7 \| DISEASES 92745 \| SLC38A5 \| DISEASES 7298 \| TYMS \| DISEASES 1442 \| CSH1 \| DISEASES 80010 \| RMI1 \| DISEASES 9400 \| RECQL5 \| DISEASES 7156 \| TOP3A \| DISEASES 5745 \| PTH1R \| DISEASES 5932 \| RBBP8 \| DISEASES 374393 \| FAM111B \| DISEASES 55556 \| ENOSF1 \| DISEASES 641 \| BLM \| DISEASES 2074 \| ERCC6 \| DISEASES 140885 \| SIRPA \| DISEASES 3182 \| HNRNPAB \| DISEASES 2547 \| XRCC6 \| DISEASES 2993 \| GYPA \| DISEASES 55388 \| MCM10 \| DISEASES 9851 \| KIAA0753 \| DISEASES 11116 \| FGFR1OP \| DISEASES 6648 \| SOD2 \| DISEASES 1369 \| CPN1 \| DISEASES 5429 \| POLH \| DISEASES 23304 \| UBR2 \| DISEASES 546 \| ATRX \| DISEASES 714 \| C1QC \| DISEASES 199 \| AIF1 \| DISEASES 5514 \| PPP1R10 \| DISEASES 6668 \| SP2 \| DISEASES 1280 \| COL2A1 \| DISEASES 7158 \| TP53BP1 \| DISEASES 5888 \| RAD51 \| DISEASES 23410 \| SIRT3 \| DISEASES 2068 \| ERCC2 \| DISEASES 7520 \| XRCC5 \| DISEASES 1443 \| CSH2 \| DISEASES 2737 \| GLI3 \| DISEASES 1663 \| DDX11 \| DISEASES 3098 \| HK1 \| DISEASES 55120 \| FANCL \| DISEASES 5965 \| RECQL \| DISEASES 7155 \| TOP2B \| DISEASES 6559 \| SLC12A3 \| DISEASES 8318 \| CDC45 \| DISEASES 7153 \| TOP2A \| DISEASES 2649 \| NR6A1 \| DISEASES 6188 \| RPS3 \| DISEASES 6999 \| TDO2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	108
Disease	rothmund-thomson syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:79) HP:0000407 \| Sensorineural hearing impairment HP:0007400 \| Irregular hyperpigmentation HP:0001373 \| Joint dislocation HP:0001163 \| Abnormality of the metacarpal bones HP:0001053 \| Hypopigmented skin patches HP:0001371 \| Flexion contracture HP:0002110 \| Bronchiectasis HP:0002021 \| Pyloric stenosis HP:0001120 \| Abnormality of corneal size HP:0000135 \| Hypogonadism HP:0001231 \| Abnormality of the fingernails HP:0009804 \| Reduced number of teeth HP:0000164 \| Abnormality of the teeth HP:0001263 \| Global developmental delay HP:0006501 \| Aplasia/Hypoplasia of the radius HP:0002860 \| Squamous cell carcinoma HP:0000992 \| Cutaneous photosensitivity HP:0000834 \| Abnormality of the adrenal glands HP:0000490 \| Deeply set eye HP:0000286 \| Epicanthus HP:0001029 \| Poikiloderma HP:0000670 \| Carious teeth HP:0004334 \| Dermal atrophy HP:0005692 \| Joint hyperflexibility HP:0004322 \| Short stature HP:0006368 \| Forearm reduction defects HP:0001510 \| Growth delay HP:0000347 \| Micrognathia HP:0001595 \| Abnormality of the hair HP:0000563 \| Keratoconus HP:0000822 \| Hypertension HP:0000501 \| Glaucoma HP:0002997 \| Abnormality of the ulna HP:0200042 \| Skin ulcer HP:0008066 \| Abnormal blistering of the skin HP:0001363 \| Craniosynostosis HP:0000535 \| Sparse eyebrow HP:0000508 \| Ptosis HP:0000365 \| Hearing impairment HP:0000924 \| Abnormality of the skeletal system HP:0002804 \| Arthrogryposis multiplex congenita HP:0006753 \| Neoplasm of the stomach HP:0000962 \| Hyperkeratosis HP:0000202 \| Oral cleft HP:0002664 \| Neoplasm HP:0005107 \| Abnormality of the sacrum HP:0009601 \| Aplasia/Hypoplasia of the thumb HP:0002007 \| Frontal bossing HP:0002669 \| Osteosarcoma HP:0003065 \| Patellar hypoplasia HP:0000316 \| Hypertelorism HP:0010701 \| Abnormal immunoglobulin level HP:0001376 \| Limitation of joint mobility HP:0008572 \| External ear malformation HP:0002863 \| Myelodysplasia HP:0007759 \| Opacification of the corneal stroma HP:0000938 \| Osteopenia HP:0000958 \| Dry skin HP:0002024 \| Malabsorption HP:0002017 \| Nausea and vomiting HP:0008070 \| Sparse hair HP:0002671 \| Basal cell carcinoma HP:0000972 \| Palmoplantar hyperkeratosis HP:0000322 \| Short philtrum HP:0002648 \| Abnormality of calvarial morphology HP:0001903 \| Anemia HP:0002665 \| Lymphoma HP:0000112 \| Nephropathy HP:0002650 \| Scoliosis HP:0000653 \| Sparse eyelashes HP:0002216 \| Premature graying of hair HP:0001875 \| Neutropenia HP:0000271 \| Abnormality of the face HP:0000252 \| Microcephaly HP:0001118 \| Juvenile cataract HP:0001249 \| Intellectual disability HP:0000965 \| Cutis marmorata HP:0001374 \| Congenital hip dislocation HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002669 \| Osteosarcoma \| 2 HP:0002721 \| Immunodeficiency \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0002863 \| Myelodysplastic syndrome \| 1 HP:0010450 \| Narrowing of the esophagus \| 1 HP:0030084 \| Clinodactyly \| 1 HP:0000677 \| Failure of development of more than six teeth \| 1

Disease ID	108
Disease	rothmund-thomson syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C2700513 \| aplastic anemia C2697383 \| osteosarcoma C1266065 \| malignant eccrine poroma C0850497 \| immune deficiency C0702159 \| constitutional aplastic anemia C0392777 \| poikiloderma C0349566 \| squamous cell carcinoma of the tongue C0206735 \| amelanotic melanoma C0029463 \| osteosarcomas C0020302 \| infantile glaucoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0029463 \| osteosarcoma \| 2 C0850497 \| immune deficiency \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs117642173	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144515243	C	T
rs137853229	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144513412	G	A
rs386833845	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144514983	A	-
rs386833849	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144513713	C	T
rs386833851	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144513126	G	A
rs398124117	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144513139	C	T,G
rs746636748	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4;LRRC14	8	144516070	CT	-
rs752729755	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144513109	AT	-
rs760363252	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144514441	C	T
rs786200887	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144514490	GCAGGCC	-
rs786200890	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4	8	144514062	CTGTGA	-
rs794726912	NA	9401	RECQL4	umls:C0032339	CLINVAR	NA	0.353013676	NA	RECQL4;LRRC14	8	144517703	G	A

GWASdb Annotation(Total Genotypes:3)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
18	674320	rs3744962	NM_001071,TYMS	NM_202758,ENOSF1	NM_001126123,ENOSF1	NM_017512,ENOSF1	ENST00000323274,ENSG00000176890	ENST00000323224,ENSG00000176890	ENST00000323250,ENSG00000176890	ENST00000383578,ENSG00000132199	ENST00000251101,ENSG00000132199	ENST00000319815,ENSG00000132199	ENST00000340116,ENSG00000132199	MCV-1	NA	chr18,670001,680000,chr18,70001,80000,6,Hi-C	NA	Cha4-primary,1.69	Hoxd10_2368,3.8789	Hoxd13_2356,1.9455	Mcm1-primary,2.4878	Ypr015c-primary,1.5296	NA	NA	NA	NA	NA	NA	0.997	0.642	1.61	GE1	A	NA	NA	NA	NA
18	698312	rs2741173	NM_202758,ENOSF1	NM_001126123,ENOSF1	NM_017512,ENOSF1	ENST00000383578,ENSG00000132199	ENST00000251101,ENSG00000132199	ENST00000319815,ENSG00000132199	ENST00000340116,ENSG00000132199	ENST00000508278,ENSG00000215726	NA	NA	chr18,690001,700000,chr18,420001,430000,26,Hi-C	chr18,690001,700000,chr18,720001,730000,42,Hi-C	chr18,690001,700000,chr17,28580001,28590000,4,Hi-C	chr18,690001,700000,chr1,121270001,121280000,8,Hi-C	chr18,690001,700000,chr16,1550001,1560000,10,Hi-C	NA	LM79,11.1369	LM141,52.437	LM218,2.3602	RUNX1,16.6734	GAMYB,1.7134	NA	NA	NA	NA	NA	NA	0.000	0.050	0.314	GE0	G	NA	NA	NA
18	703442	rs2847325	NM_202758,ENOSF1	NM_001126123,ENOSF1	NM_017512,ENOSF1	ENST00000383578,ENSG00000132199	ENST00000251101,ENSG00000132199	ENST00000319815,ENSG00000132199	ENST00000340116,ENSG00000132199	TFP.EP300	TFP.FOXA2	TFP.FOSL2	TFP.MAFF	CHMM	TFP.MAFK	TFP.FOXA1	MCV-58	NA	chr18,700001,710000,chr10,9830001,9840000,5,Hi-C	NA	LM4,2.6613	LM9,1.5382	LM124,1.3148	LM178,1.4868	ACTAYRNNNCCCR,2.0142	NA	NA	NA	NA	NA	NA	0.002	1.003	2.55	GM1	G	NA

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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