MCID: LMB008
MIFTS: 27

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 57 53 59 75 37 29 13 55 6 40 73
Lms 57 53 59 75
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 53

Characteristics:

Orphanet epidemiological data:

59
limb-mammary syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
limb-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 603543
Orphanet 59 ORPHA69085
UMLS via Orphanet 74 C1863753
MESH via Orphanet 45 C535903
MedGen 42 C1863753
KEGG 37 H00640
UMLS 73 C1863753

Summaries for Limb-Mammary Syndrome

NIH Rare Diseases : 53 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.

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

UniProtKB/Swiss-Prot : 75 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Wikipedia : 76 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:

# 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 adult syndrome 9.8
9 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.8
10 isolated split hand-split foot malformation 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:

57
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:

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

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 29 TP63

Anatomical Context for Limb-Mammary Syndrome

MalaCards organs/tissues related to Limb-Mammary Syndrome:

41
Skin, 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 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
4 TP63 NM_003722.4(TP63): c.1837_1841delCCTTC (p.Pro613Serfs) deletion Pathogenic rs794727122 GRCh38 Chromosome 3, 189894296: 189894300

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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