MCID: LMB008
MIFTS: 27

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

About this section
Sources:
12diseasecard, 24GeneTests, 26GTR, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 51 47 24 53 69 26 12 49 67
Lms 47 53 69
 
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 47

Characteristics:

Orphanet epidemiological data:

53
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
limb-mammary syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 603543
Orphanet53 ORPHA69085
UMLS via Orphanet68 C1863753
MESH via Orphanet39 C535903
MedGen36 C1863753

Summaries for Limb-Mammary Syndrome

About this section
Wikipedia:70 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:69 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Description from OMIM:51 603543

Related Diseases for Limb-Mammary Syndrome

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1leiomyosarcoma11.2
2lateral meningocele syndrome11.1
3laurence-moon syndrome10.8
4lenz-majewski hyperostotic dwarfism10.8
5lactose intolerance10.8
6adult syndrome9.8
7eec syndrome9.8
8split hand-split foot malformation9.8
9split foot9.8
10split hand9.8

Graphical network of diseases related to Limb-Mammary Syndrome:



Diseases related to limb-mammary syndrome

Symptoms for Limb-Mammary Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

603543

Clinical features from OMIM:

603543

Human phenotypes related to Limb-Mammary Syndrome:

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate63 HP:0000175
2 bifid uvula63 HP:0000193
3 lacrimal duct atresia63 HP:0000564
4 hypodontia63 HP:0000668
5 hypohidrosis63 HP:0000966
6 syndactyly63 HP:0001159
7 split hand63 HP:0001171
8 hallux valgus63 HP:0001822
9 split foot63 HP:0001839
10 nail dysplasia63 HP:0002164
11 hypoplastic nipples63 HP:0002557
12 joint contracture of the hand63 HP:0009473
13 camptodactyly63 HP:0012385

Drugs & Therapeutics for Limb-Mammary Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Limb-Mammary Syndrome

Genetic Tests for Limb-Mammary Syndrome

About this section

Genetic tests related to Limb-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Limb-Mammary Syndrome26 24 TP63

Anatomical Context for Limb-Mammary Syndrome

About this section

MalaCards organs/tissues related to Limb-Mammary Syndrome:

35
Skin, Bone, Eye

Animal Models for Limb-Mammary Syndrome or affiliated genes

About this section

Publications for Limb-Mammary Syndrome

About this section

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

About this section

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, 1576TTdeletionPathogenicChr na, -1: -1
3TP63TP63, 2-BP DEL, 1743AAdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Limb-Mammary Syndrome

About this section
Search GEO for disease gene expression data for Limb-Mammary Syndrome.

Pathways for genes affiliated with Limb-Mammary Syndrome

About this section

GO Terms for genes affiliated with Limb-Mammary Syndrome

About this section

Sources for Limb-Mammary Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet