LMS
MCID: LMB008
MIFTS: 27

Limb-Mammary Syndrome (LMS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Limb-Mammary Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 52 48 24 54 70 27 12 50 68
Lms 48 54 70
 
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 48

Characteristics:

Orphanet epidemiological data:

54
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
limb-mammary syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 603543
Orphanet54 ORPHA69085
UMLS via Orphanet69 C1863753
MESH via Orphanet40 C535903
MedGen37 C1863753

Summaries for Limb-Mammary Syndrome

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Wikipedia:71 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 lateral meningocele syndrome, and has symptoms including cleft palate, bifid uvula and lacrimal duct atresia. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot:70 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Description from OMIM:52 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 12)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyosarcoma11.2
2lateral meningocele syndrome11.1
3microcystic lymphatic malformation11.0
4laurence-moon syndrome10.8
5lenz-majewski hyperostotic dwarfism10.8
6lactose intolerance10.8
7testicular cancer9.8
8adult syndrome9.8
9eec syndrome9.8
10split hand-split foot malformation9.8
11split foot9.8
12split hand9.8

Graphical network of diseases related to Limb-Mammary Syndrome:



Diseases related to limb-mammary syndrome

Symptoms & Phenotypes for Limb-Mammary Syndrome

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Symptoms by clinical synopsis from OMIM:

603543

Clinical features from OMIM:

603543

Human phenotypes related to Limb-Mammary Syndrome:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate64 HP:0000175
2 bifid uvula64 HP:0000193
3 lacrimal duct atresia64 HP:0000564
4 hypodontia64 HP:0000668
5 hypohidrosis64 HP:0000966
6 syndactyly64 HP:0001159
7 split hand64 HP:0001171
8 hallux valgus64 HP:0001822
9 split foot64 HP:0001839
10 nail dysplasia64 HP:0002164
11 hypoplastic nipples64 HP:0002557
12 joint contracture of the hand64 HP:0009473
13 camptodactyly64 HP:0012385

Drugs & Therapeutics for Limb-Mammary Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome27 24 TP63

Anatomical Context for Limb-Mammary Syndrome

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MalaCards organs/tissues related to Limb-Mammary Syndrome:

36
Skin, Bone, Eye

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
1TP63NM_ 003722.4(TP63): c.1837_ 1841delCCTTC (p.Pro613Serfs)deletionPathogenicrs794727122GRCh37Chr 3, 189612085: 189612089
2TP63TP63, 2-BP DEL, 1576TTdeletionPathogenic
3TP63TP63, 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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GO Terms for genes affiliated with Limb-Mammary Syndrome

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Sources for Limb-Mammary Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet