MCID: LMB008
MIFTS: 29

Limb-Mammary Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Reproductive diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Limb-Mammary Syndrome

MalaCards integrated aliases for Limb-Mammary Syndrome:

Name: Limb-Mammary Syndrome 53 49 55 71 36 28 13 51 69
Lms 53 49 55 71
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 49

Characteristics:

Orphanet epidemiological data:

55
limb-mammary syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
allelic to eec3 , shfm4 , rapp-hodgkin syndrome , hay-wells syndrome , and adult syndrome


HPO:

31
limb-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 603543
Orphanet 55 ORPHA69085
MESH via Orphanet 42 C535903
UMLS via Orphanet 70 C1863753
MedGen 39 C1863753
KEGG 36 H00640
UMLS 69 C1863753

Summaries for Limb-Mammary Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 69085Disease definitionLimb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. Less than 50 cases have been described in the literature so far. Clinically, the syndrome is characterized by severe hand and/or foot anomalies, and hypoplasia/aplasia of the mammary gland and nipple. Clinical expression is extremely variable. Individuals with mild LMS have isolated athelia. All three major categories of limb defects (i.e., deficiencies, duplications, and fusion/separation defects), as well as several combinations of these anomalies, were observed. Variation in the severity of the limb defects may be observed, not only between individuals but also between the left and right hand/foot of one individual. Less frequent findings include lacrimal-duct atresia, nail dysplasia, hypohydrosis, hypodontia (absence of one or more teeth), earpits and cleft palate with or without bifid uvula. Skin and hair are spared. LMS is an autosomal dominant disease caused by loss-of-function mutations in exon 13 and 14 of the TP63 gene localized to the subtelomeric region of chromosome 3 (3q27). There is a strong genotype-phenotype correlation in syndromes caused by mutations in this gene, which is also responsible for several other ectodermal dysplasia syndromes (ectrodactyly-ectodermal dysplasia-cleft lip palate (EEC), and the Hay-Wells, Rapp-Hodgkin and ADULT syndromes) and some cases of split hand-foot syndrome. Differential diagnosis should include ulnar-mammary syndrome, an autosomal dominant condition caused by mutations in the TBX3 gene and characterised by ulnar ray defects or post-axial polydactyly, anal atresia, genito-urinary abnormalities, hypohidrosis and breast hypoplasia. Treatment of LMS depends on the anomalies present. Surgical intervention may be offered for correction of the hand/foot deformities in order to improve function and reduce physical disfigurement. The prognosis for LMS patients is good and life expectancy is normal.Visit the Orphanet disease page for more resources. Last updated: 10/11/2006

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 skin, breast and bone.

UniProtKB/Swiss-Prot : 71 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Wikipedia : 72 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 13)
# Related Disease Score Top Affiliating Genes
1 leiomyosarcoma 11.2
2 lateral meningocele syndrome 11.2
3 microcystic lymphatic malformation 11.0
4 lenz-majewski hyperostotic dwarfism 10.9
5 lactose intolerance 10.9
6 laurence-moon syndrome 10.9
7 microphthalmia, syndromic 1 10.9
8 testicular cancer 9.9
9 adult syndrome 9.8
10 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.8
11 split hand-split foot malformation 9.8
12 split foot 9.8
13 split hand 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 via clinical synopsis from OMIM:

53
Head And Neck Mouth:
cleft palate
bifid uvula

Head And Neck Teeth:
hypodontia

Skin Nails Hair Nails:
nail dysplasia

Head And Neck Eyes:
lacrimal duct atresia

Skin Nails Hair Skin:
hypohidrosis

Skeletal Feet:
hallux valgus
ectrodactyly
split foot

Skeletal Hands:
ectrodactyly
camptodactyly
syndactyly

Chest Breasts:
aplastic/hypoplastic breasts
aplastic/hypoplastic nipples


Clinical features from OMIM:

603543

Human phenotypes related to Limb-Mammary Syndrome:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 hypohidrosis 31 HP:0000966
3 split hand 31 HP:0001171
4 hypodontia 31 HP:0000668
5 hallux valgus 31 HP:0001822
6 nail dysplasia 31 HP:0002164
7 bifid uvula 31 HP:0000193
8 hypoplastic nipples 31 HP:0002557
9 camptodactyly 31 HP:0012385
10 syndactyly 31 HP:0001159
11 split foot 31 HP:0001839
12 lacrimal duct atresia 31 HP:0000564
13 joint contracture of the hand 31 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:

# Genetic test Affiliating Genes
1 Limb-Mammary Syndrome 28 TP63

Anatomical Context for Limb-Mammary Syndrome

MalaCards organs/tissues related to Limb-Mammary Syndrome:

38
Skin, Breast, Bone, Eye

Publications for Limb-Mammary Syndrome

Articles related to Limb-Mammary Syndrome:

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

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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