MCID: LMB008
MIFTS: 33

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

Aliases & Descriptions for Limb-Mammary Syndrome:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 603543
Orphanet51 69085
MESH via Orphanet37 C535903
UMLS via Orphanet66 C1863753
MedGen34 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 leiomyosarcoma and lateral meningocele syndrome, 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 skin, bone 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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Diseases related to Limb-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1leiomyosarcoma10.3
2lateral meningocele syndrome10.2
3adult syndrome10.1
4eec syndrome10.1
5split hand-split foot malformation10.1
6split foot10.1
7split hand10.1
8hepatocellular carcinoma10.1
9cervical cancer, somatic10.1
10meningioma, familial10.1
11central nervous system cancer10.1
12female reproductive organ cancer10.1
13female reproductive system disease10.1
14lymph node cancer10.1
15lymph node disease10.1
16lymphatic system cancer10.1
17lymphatic system disease10.1
18nervous system cancer10.1
19sarcoma10.1
20testicular cancer10.1
21uterine disease10.1
22goblet cell carcinoid10.1
23lymphatic neoplasm10.1
24lymphomatous meningitis10.1
25neural tube defects9.9
26lung cancer9.9
27prostate cancer9.9
28diabetes mellitus, noninsulin-dependent9.9
29diabetes mellitus, noninsulin-dependent 19.9
30bladder cancer, somatic9.9
31mody, type ii9.9
32lenz-majewski hyperostotic dwarfism9.9
33diabetes mellitus, insulin-dependent9.9
34diabetes mellitus, noninsulin-dependent, 29.9
35diabetes mellitus, noninsulin-dependent, 59.9
36endometrial cancer9.9
37insulin-like growth factor i9.9
38bladder disease9.9
39melanoma metastasis9.9
40pharyngitis9.9
41vulvovaginal candidiasis9.9
42osteogenesis imperfecta9.9
43hemoglobin c disease9.9
44bardet-biedl syndrome9.9
45bladder neck cancer9.9
46lactose intolerance9.9
47aortic malignant tumor9.9
48hypoglycemia9.9
49smooth muscle tumor9.9
50malignant breast melanoma9.9

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 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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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 24 TP63

Anatomical Context for Limb-Mammary Syndrome

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MalaCards organs/tissues related to Limb-Mammary Syndrome:

33
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
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