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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: Lynch Syndrome II (D055847)
Parent Node: Sebaceous Gland Neoplasms (D012626)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Muir-Torre Syndrome (D055653)
Child Nodes:
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:

7442

Name:

Muir-Torre Syndrome

Definition:

A form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms.

Alternative IDs:

OMIM:158320

ParentIDs:

MESH:D012626|MESH:D012873|MESH:D055847

TreeNumbers:

C04.588.805.578.500 |C04.700.250.500.500 |C16.320.700.250.500.500 |C17.800.794.712.500 |C17.800.827.610 |C17.800.882.712.500

Synonyms:

CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS |MRTES |Muir Torre Syndrome |Syndrome, Muir-Torre

Slim Mappings:

Cancer|Genetic disease (inborn)|Skin disease

Reference:

MedGen: D055653
MeSH: D055653
OMIM: 158320;

Genes: MLH1; MSH2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009720	Adenoma sebaceum
3	HP:0002671	Basal cell carcinoma
4	HP:0006719	Benign gastrointestinal tract tumors
5	HP:0006778	Benign genitourinary tract neoplasm
6	HP:0003002	Breast carcinoma
7	HP:0003003	Colon cancer
8	HP:0002253	Colonic diverticula
9	HP:0006771	Duodenal adenocarcinoma
10	HP:0012118	Laryngeal carcinoma
11	HP:0006758	Malignant genitourinary tract tumor
12	HP:0030410	Sebaceous gland carcinoma

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	Disease_hgmd
NM_000251.2(MSH2):c.269_290dup22 (p.Tyr98Argfs)	4436	MSH2	Pathogenic	587776529	RCV000001831; RCV000076538;	N	MedGen:C1321489,OMIM:158320,ORPHA:587,SNOMED CT:403824007; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	47635597	47635618	NM_000251.2:c.269_290dup22	NP_000242.1:p.Tyr98Argfs		International Society for Gastrointestinal Hereditary Tumours:c.269_290dup,OMIM Allelic Variant:609309.0009	C1333990 Lynch syndrome; C1321489 158320 Muir-Torré syndrome
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter)	4436	MSH2	Pathogenic	63750047	RCV000001828; RCV000076290;	N	MedGen:C1321489,OMIM:158320,ORPHA:587,SNOMED CT:403824007; MedGen:C1333990, Orphanet:ORPHA144,SNOMED CT:315058005	2	47702205	47702205	NM_000251.2:c.1801C>T	NP_000242.1:p.Gln601Ter	NC_000002.11:g.47702205C>T	International Society for Gastrointestinal Hereditary Tumours:c.1801C>T,OMIM Allelic Variant:609309.0006	C1333990 Lynch syndrome; C1321489 158320 Muir-Torré syndrome