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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Wikipedia:65 Limb?mammary syndrome is a cutaneous condition characterized by p63 mutations. more...

MalaCards based summary: Limb-Mammary Syndrome, also known as LMS, is related to leiomyosarcoma and lactose intolerance, and has symptoms including An important gene associated with Limb-Mammary Syndrome is TP63 (tumor protein p63). Affiliated tissues include eye, bone and skin.

Description from OMIM:46 603543

Aliases & Classifications for Limb-Mammary Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Limb-Mammary Syndrome, Aliases & Descriptions:

Name: Limb-Mammary Syndrome 42 20 22 46 44 48 62
Lms 42 48
 
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 603543
MESH via Orphanet35 C535903
UMLS via Orphanet63 C1863753

Related Diseases for Limb-Mammary Syndrome

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

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

Graphical network of diseases related to Limb-Mammary Syndrome:



Diseases related to limb-mammary syndrome

Symptoms for Limb-Mammary Syndrome

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Symptoms by clinical synopsis from OMIM:

603543

Clinical features from OMIM:

603543

HPO human phenotypes related to Limb-Mammary Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cleft palate HP:0000175
3 bifid uvula HP:0000193
4 lacrimal duct atresia HP:0000564
5 hypodontia HP:0000668
6 hypohidrosis HP:0000966
7 syndactyly HP:0001159
8 split hand HP:0001171
9 hallux valgus HP:0001822
10 split foot HP:0001839
11 nail dysplasia HP:0002164
12 hypoplastic nipples HP:0002557
13 joint contracture of the hand HP:0009473
14 camptodactyly HP:0012385

Drugs & Therapeutics for Limb-Mammary Syndrome

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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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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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MalaCards organs/tissues related to Limb-Mammary Syndrome:

32
Eye, Bone, Skin

Animal Models for Limb-Mammary Syndrome or affiliated genes

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Publications for Limb-Mammary Syndrome

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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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Clinvar genetic disease variations for Limb-Mammary Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TP63TP63, 2-BP DEL, 1576TTdeletionPathogenic
2TP63TP63, 2-BP DEL, 1743AAdeletionPathogenic

Expression for genes affiliated with Limb-Mammary Syndrome

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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

Sources for Limb-Mammary Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet