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

Aliases & Descriptions for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 54 50 24 56 66 29 13 52 69
Lms 50 56 66
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 50

Characteristics:

Orphanet epidemiological data:

56
limb-mammary syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

HPO:

32
limb-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 603543
Orphanet 56 ORPHA69085
UMLS via Orphanet 70 C1863753
MESH via Orphanet 43 C535903
MedGen 40 C1863753

Summaries for Limb-Mammary Syndrome

UniProtKB/Swiss-Prot : 66 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

MalaCards based summary : Limb-Mammary Syndrome, also known as lms, is related to leiomyosarcoma and lateral meningocele syndrome, and has symptoms including cleft palate, hypohidrosis and split hand. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include bone, skin and eye.

Wikipedia : 71 Limb–mammary syndrome is a cutaneous condition characterized by p63... more...

Description from OMIM: 603543

Related Diseases for Limb-Mammary Syndrome

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 leiomyosarcoma 11.2
2 lateral meningocele syndrome 11.1
3 microcystic lymphatic malformation 11.0
4 laurence-moon syndrome 10.8
5 lactose intolerance 10.8
6 lenz-majewski hyperostotic dwarfism 10.8
7 testicular cancer 9.8
8 eec syndrome 9.8
9 split hand-split foot malformation 9.8
10 split foot 9.8
11 split hand 9.8
12 adult syndrome 9.8

Graphical network of the top 20 diseases related to Limb-Mammary Syndrome:



Diseases related to Limb-Mammary Syndrome

Symptoms & Phenotypes for Limb-Mammary Syndrome

Symptoms by clinical synopsis from OMIM:

603543

Clinical features from OMIM:

603543

Human phenotypes related to Limb-Mammary Syndrome:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 hypohidrosis 32 HP:0000966
3 split hand 32 HP:0001171
4 hypodontia 32 HP:0000668
5 hallux valgus 32 HP:0001822
6 nail dysplasia 32 HP:0002164
7 bifid uvula 32 HP:0000193
8 hypoplastic nipples 32 HP:0002557
9 camptodactyly 32 HP:0012385
10 syndactyly 32 HP:0001159
11 split foot 32 HP:0001839
12 lacrimal duct atresia 32 HP:0000564
13 joint contracture of the hand 32 HP:0009473

Drugs & Therapeutics for Limb-Mammary Syndrome

Search Clinical Trials , NIH Clinical Center for Limb-Mammary Syndrome

Genetic Tests for Limb-Mammary Syndrome

Genetic tests related to Limb-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Limb-Mammary Syndrome 29 24 TP63

Anatomical Context for Limb-Mammary Syndrome

MalaCards organs/tissues related to Limb-Mammary Syndrome:

39
Bone, Skin, Eye

Publications for Limb-Mammary Syndrome

Articles related to Limb-Mammary Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Limb-Mammary Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TP63 TP63, 2-BP DEL, 1576TT deletion Pathogenic
2 TP63 TP63, 2-BP DEL, 1743AA deletion Pathogenic
3 TP63 NM_003722.4(TP63): c.1837_1841delCCTTC (p.Pro613Serfs) deletion Pathogenic rs794727122 GRCh37 Chromosome 3, 189612085: 189612089

Expression for Limb-Mammary Syndrome

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

Pathways for Limb-Mammary Syndrome

GO Terms for Limb-Mammary Syndrome

Sources for Limb-Mammary Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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