MCID: LMB008
MIFTS: 28

Limb-Mammary Syndrome 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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 50 46 23 52 68 25 12 48 66
Lms 46 52 68
 
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 46

Characteristics:

Orphanet epidemiological data:

52
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
limb-mammary syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 603543
Orphanet52 ORPHA69085
MESH via Orphanet38 C535903
UMLS via Orphanet67 C1863753
MedGen35 C1863753

Summaries for Limb-Mammary Syndrome

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Wikipedia:69 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 lateral meningocele syndrome and lenz-majewski hyperostotic dwarfism, 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:68 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Description from OMIM:50 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 11)
idRelated DiseaseScoreTop Affiliating Genes
1lateral meningocele syndrome11.2
2lenz-majewski hyperostotic dwarfism10.9
3lactose intolerance10.9
4bardet-biedl syndrome10.9
5leiomyosarcoma10.6
6microcystic lymphatic malformation10.1
7testicular cancer10.0
8adult syndrome9.9
9split hand-split foot malformation9.9
10split foot9.9
11split hand9.9

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 13)
id Description Frequency HPO Source Accession
1 cleft palate HP:0000175
2 bifid uvula HP:0000193
3 lacrimal duct atresia HP:0000564
4 hypodontia HP:0000668
5 hypohidrosis HP:0000966
6 syndactyly HP:0001159
7 split hand HP:0001171
8 hallux valgus HP:0001822
9 split foot HP:0001839
10 nail dysplasia HP:0002164
11 hypoplastic nipples HP:0002557
12 joint contracture of the hand HP:0009473
13 camptodactyly 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 Syndrome25 23 TP63

Anatomical Context for Limb-Mammary Syndrome

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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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet