LMS
MCID: LMB008
MIFTS: 31

Limb-Mammary Syndrome (LMS) malady

Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Limb-Mammary Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Limb?mammary syndrome is a cutaneous condition characterized by p63 mutations. more...

MalaCards: Limb-Mammary Syndrome, also known as LMS, is related to leiomyosarcoma and testicular cancer. An important gene associated with Limb-Mammary Syndrome is TP63 (tumor protein p63). Affiliated tissues include skin, bone and eye.

Description from OMIM:48 603543

Aliases & Classifications for Limb-Mammary Syndrome

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Sources:
44NIH Rare Diseases, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 63UMLS, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

limb-mammary syndrome 44 21 23 48 46 50 63
lms 44 50
mammary hypoplasia, ectrodactyly, and other hand/foot anomalies 44


External Ids:

OMIM48 603543
MESH via Orphanet37 C535903
UMLS via Orphanet64 C1863753

Related Diseases for Limb-Mammary Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Limb-Mammary Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyosarcoma10.2
2testicular cancer10.1
3adult syndrome10.1
4eec syndrome10.1
5split foot10.1
6split hand10.1
7bardet-biedl syndrome10.0
8angelman syndrome10.0
9akinetopsia10.0
10lactose intolerance10.0
11cleft palate10.0
12endometrial stromal sarcoma10.0
13adenoiditis10.0
14smooth muscle tumor10.0
15adenoid cystic carcinoma10.0
16osteogenesis imperfecta10.0
17leiomyoma10.0
18sarcoma10.0
19lateral meningocele syndrome10.0
20neural tube defects10.0
21lymphatic malformation10.0

Graphical network of the top 20 diseases related to Limb-Mammary Syndrome:



Diseases related to limb-mammary syndrome

Symptoms for Limb-Mammary Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

603543

Clinical features from OMIM:

603543

Drugs & Therapeutics for Limb-Mammary Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Limb-Mammary Syndrome

Drug clinical trials:

Search ClinicalTrials for Limb-Mammary Syndrome

Search NIH Clinical Center for Limb-Mammary Syndrome

Search CenterWatch for Limb-Mammary Syndrome

Genetic Tests for Limb-Mammary Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Limb-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Limb-Mammary Syndrome21 23 TP63

Anatomical Context for Limb-Mammary Syndrome

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34MalaCards
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MalaCards organs/tissues related to Limb-Mammary Syndrome:

34
Skin, Bone, Eye

Animal Models for Limb-Mammary Syndrome or affiliated genes

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Publications for Limb-Mammary Syndrome

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Sources:
53PubMed
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Articles related to Limb-Mammary Syndrome:

idTitleAuthorsYear
1
Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation? (18627043)
2008
2
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
2001
3
ADULT syndrome allelic to limb mammary syndrome (LMS)? (10607963)
2000
4
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. (9973291)
1999

Variations for Limb-Mammary Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Limb-Mammary Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1TP63TP63, 2-BP DEL, 1576TTdeletionPathogenic/card/limb_mammary_syndrome
2TP63TP63, 2-BP DEL, 1743AAdeletionPathogenic/card/limb_mammary_syndrome

Expression for genes affiliated with Limb-Mammary Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Mammary Syndrome

Search GEO for disease gene expression data for Limb-Mammary Syndrome.

Pathways for genes affiliated with Limb-Mammary Syndrome

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Compounds for genes affiliated with Limb-Mammary Syndrome

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GO Terms for genes affiliated with Limb-Mammary Syndrome

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Products for genes affiliated with Limb-Mammary Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Mammary Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet