MCID: LMB008
MIFTS: 30

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 49 11 45 22 47 51 67 24 65
Lms 45 51 67
 
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 45

Characteristics:

Orphanet epidemiological data:

51
limb-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
limb-mammary syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 603543
Orphanet51 69085
MESH via Orphanet37 C535903
UMLS via Orphanet66 C1863753
MedGen34 C1863753
UMLS65 C1863753

Summaries for Limb-Mammary Syndrome

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Wikipedia:68 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 camptodactyly, joint contracture of the hand and hypoplastic nipples. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include bone, skin and eye.

UniProtKB/Swiss-Prot:67 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Description from OMIM:49 603543

Related Diseases for Limb-Mammary Syndrome

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Graphical network of the top 20 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 camptodactyly HP:0012385
2 joint contracture of the hand HP:0009473
3 hypoplastic nipples HP:0002557
4 nail dysplasia HP:0002164
5 split foot HP:0001839
6 hallux valgus HP:0001822
7 split hand HP:0001171
8 syndactyly HP:0001159
9 hypohidrosis HP:0000966
10 hypodontia HP:0000668
11 lacrimal duct atresia HP:0000564
12 bifid uvula HP:0000193
13 cleft palate HP:0000175

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 Syndrome22 TP63

Anatomical Context for Limb-Mammary Syndrome

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MalaCards organs/tissues related to Limb-Mammary Syndrome:

33
Bone, Skin, Eye, B cells

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
Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia. (22137487)
2011
2
Dental implant reconstruction in a patient with ectodermal dysplasia using multiple bone grafting techniques. (18486790)
2008
3
chi-Conopeptide MrIA partially overlaps desipramine and cocaine binding sites on the human norepinephrine transporter. (12837768)
2003
4
Association of histone deacetylase with COUP-TF in tumorigenic Ad12-transformed cells and its potential role in shut-off of MHC class I transcription. (10704340)
2000

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet