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
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Summaries for Limb-Mammary Syndrome

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 603543

Aliases & Classifications for Limb-Mammary Syndrome

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Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 62UMLS, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

limb-mammary syndrome 43 20 22 47 45 49 62
lms 43 49
mammary hypoplasia, ectrodactyly, and other hand/foot anomalies 43


External Ids:

OMIM47 603543
MESH via Orphanet36 C535903
UMLS via Orphanet63 C1863753

Related Diseases for Limb-Mammary Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Limb-Mammary Syndrome

Search NIH Clinical Center for Limb-Mammary Syndrome

Genetic Tests for Limb-Mammary Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Limb-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Limb-Mammary Syndrome20 22 TP63

Anatomical Context for Limb-Mammary Syndrome

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33MalaCards
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MalaCards organs/tissues related to Limb-Mammary Syndrome:

33
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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52PubMed
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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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2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet