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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: DNA Repair-Deficiency Disorders (D049914)
Parent Node: Infant, Newborn, Diseases (D007232)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Rothmund-Thomson Syndrome (D011038)
Child Nodes:
........Navajo poikiloderma (C538345)
........PARC syndrome (C537174)
........Rapadilino syndrome (C535288)
........Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris (C564819)
........Spastic paraplegia neuropathy poikiloderma (C536870)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9909

Name:

Rothmund-Thomson Syndrome

Definition:

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Alternative IDs:

OMIM:268400

ParentIDs:

MESH:D007232|MESH:D012868|MESH:D012873|MESH:D049914

TreeNumbers:

C16.131.831.775 |C16.320.850.765 |C16.614.760 |C17.800.804.775 |C17.800.827.775 |C18.452.284.760

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Infant-newborn disease|Metabolic disease|Skin disease

Reference:

MedGen: D011038
MeSH: D011038
OMIM: 268400;

Genes: RECQL4;

Phenotypes

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_004260.3(RECQL4):c.2492_2493delAT (p.His831Argfs)	9401	RECQL4	Pathogenic	752729755	RCV000006436;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145738492	145738493	NM_004260.3:c.2492_2493delAT	NP_004251.3:p.His831Argfs	NC_000008.10:g.145738492_145738493delAT	OMIM Allelic Variant:603780.0003	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter)	9401	RECQL4	Likely pathogenic;Pathogenic	386833851	RCV000174890; RCV000049819; RCV000080890;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006; MedGen:C1849453,OMIM:266280,ORPHA:3021; MedGen:CN221809	8	145738509	145738509	NM_004260.3:c.2476C>T	NP_004251.3:p.Arg826Ter	NC_000008.10:g.145738509G>A	HGMD:CM033809	CN221809 not provided; C1849453 266280 Rapadilino syndrome; C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2464-1G>C	9401	RECQL4	Pathogenic	398124117	RCV000174891; RCV000080889;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006; MedGen:CN221809	8	145738522	145738522	NM_004260.3:c.2464-1G>C		NC_000008.10:g.145738522C>G	-	CN221809 not provided; C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter)	9401	RECQL4	Pathogenic	137853229	RCV000006435;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145738796	145738796	NM_004260.3:c.2269C>T	NP_004251.3:p.Gln757Ter	NC_000008.10:g.145738796G>A	OMIM Allelic Variant:603780.0002	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2059-1G>T	9401	RECQL4	Pathogenic	386833849	RCV000006437;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145739097	145739097	NM_004260.3:c.2059-1G>T		NC_000008.10:g.145739097C>A,NC_000008.10:g.145739097C>G,NC_000008.10:g.145739097	OMIM Allelic Variant:603780.0004	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2059-1G>C	9401	RECQL4	Pathogenic	386833849	RCV000006441;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145739097	145739097	NM_004260.3:c.2059-1G>C		NC_000008.10:g.145739097C>A,NC_000008.10:g.145739097C>G,NC_000008.10:g.145739097	OMIM Allelic Variant:603780.0008	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)	9401	RECQL4	Pathogenic	786200890	RCV000006449;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145739446	145739451	NM_004260.3:c.1919_1924delTCACAG	NP_004251.3:p.Leu640_Ala642delinsPro	NC_000008.10:g.145739446_145739451delCTGTGA	OMIM Allelic Variant:603780.0015	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1704+1G>A	9401	RECQL4	Pathogenic	760363252	RCV000006450;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145739825	145739825	NM_004260.3:c.1704+1G>A		NC_000008.10:g.145739825C>T	OMIM Allelic Variant:603780.0016	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1650_1656delGGCCTGC (p.Ala551Tyrfs)	9401	RECQL4	Pathogenic	786200887	RCV000006434;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145739874	145739880	NM_004260.3:c.1650_1656delGGCCTGC	NP_004251.3:p.Ala551Tyrfs	NC_000008.10:g.145739874_145739880delGCAGGCC	OMIM Allelic Variant:603780.0001	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1573delT (p.Cys525Alafs)	9401	RECQL4	Likely pathogenic;Pathogenic	386833845	RCV000006438; RCV000049813; RCV000169785;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006; MedGen:C0265308,OMIM:218600,ORPHA:1225,SNOMED CT:77608001; MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145740367	145740367	NM_004260.3:c.1573delT	NP_004251.3:p.Cys525Alafs	NC_000008.10:g.145740367delA	OMIM Allelic Variant:603780.0005	C0265308 218600 Baller-Gerold syndrome; C1849453 266280 Rapadilino syndrome; C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1391-1G>A	9401	RECQL4	Pathogenic	117642173	RCV000006439;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145740627	145740627	NM_004260.3:c.1391-1G>A		NC_000008.10:g.145740627C>T	OMIM Allelic Variant:603780.0006	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1048_1049delAG (p.Arg350Glyfs)	9401	RECQL4	Pathogenic	746636748	RCV000178888;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145741454	145741455	NM_004260.3:c.1048_1049delAG	NP_004251.3:p.Arg350Glyfs	NC_000008.10:g.145741454_145741455delCT	-	C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.82C>T (p.Gln28Ter)	9401	RECQL4	Pathogenic	794726912	RCV000173328;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006	8	145743087	145743087	NM_004260.3:c.82C>T	NP_004251.3:p.Gln28Ter	NC_000008.10:g.145743087G>A	-	C0032339 268400 Rothmund-Thomson syndrome