MCID: LMB008
MIFTS: 30

Limb-Mammary Syndrome malady

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

Aliases & Classifications for Limb-Mammary Syndrome

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 46 9 42 20 44 48 22 61
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 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM46 603543
Orphanet48 69085
MESH via Orphanet34 C535903
UMLS via Orphanet62 C1863753

Summaries for Limb-Mammary Syndrome

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Wikipedia:64 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 testicular cancer, and has symptoms including autosomal dominant inheritance, cleft palate and bifid uvula. 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

Related Diseases for Limb-Mammary Syndrome

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyosarcoma10.3
2testicular cancer10.2
3adult syndrome10.1
4eec syndrome10.1
5split foot10.1
6split hand10.1
7neural tube defects10.0
8angelman syndrome10.0
9insulin-like growth factor i10.0
10bardet-biedl syndrome10.0
11laurence-moon syndrome10.0
12lactose intolerance10.0
13endometrial stromal sarcoma10.0
14adenoiditis10.0
15smooth muscle tumor10.0
16osteogenesis imperfecta10.0
17leiomyoma10.0
18sarcoma10.0
19lateral 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:

31
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:

5
id Gene Variation 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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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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Sources for Limb-Mammary Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet