LMS
MCID: LMB008
MIFTS: 34

Limb-Mammary Syndrome (LMS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Skin 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.EpidemiologyLess than 50 cases have been described in the literature so far.Clinical descriptionClinically, 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.EtiologyLMS is 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 diagnosisDifferential 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.Genetic counselingLMS is an autosomal dominant disease.Management and treatmentTreatment 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.PrognosisThe 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, breast and bone, and related phenotypes are cleft palate and hypohidrosis

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

Description from OMIM: 603543

Related Diseases for Limb-Mammary Syndrome

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 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:

# 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, Breast, Bone, Eye, Prostate, Liver, Smooth Muscle

Publications for Limb-Mammary Syndrome

Articles related to Limb-Mammary Syndrome:

(show top 50) (show all 100)
# Title Authors Year
1
Reference Values for Spirometry Derived Using Lambda, Mu, Sigma (LMS) Method in Korean Adults: in Comparison with Previous References. ( 29215803 )
2018
2
Application of LMS-Based NN Structure for Power Quality Enhancement in a Distribution Network Under Abnormal Conditions. ( 28328518 )
2018
3
Effect of 2-methoxyestradiol on SK-LMS-1 uterine leiomyosarcoma cells. ( 28693141 )
2017
4
Using LMS tables to determine waist circumference and waist-to-height ratios in Colombian children and adolescents: the FUPRECOL study. ( 28697745 )
2017
5
Use of lectin-magnetic separation (LMS) for detecting Toxoplasma gondii oocysts in environmental water samples. ( 29031801 )
2017
6
A universal modified LMS algorithm with iteration order hybrid switching. ( 27979311 )
2017
7
Waist circumference and waist:height ratio percentiles using LMS method in Chilean population. ( 28017525 )
2017
8
Lectin-magnetic separation (LMS) for isolation of Toxoplasma gondii oocysts from concentrated water samples prior to detection by microscopy or qPCR. ( 28249214 )
2017
9
Non-Invasive Fetal Monitoring: A Maternal Surface ECG Electrode Placement-Based Novel Approach for Optimization of Adaptive Filter Control Parameters Using the LMS and RLS Algorithms. ( 28534810 )
2017
10
An LMS Programming Scheme and Floating-Gate Technology Enabled Trimmer-Less and Low Voltage Flame Detection Sensor. ( 28613250 )
2017
11
Adaptive step size LMS improves ECG detection during MRI at 1.5 and 3 T. ( 28631204 )
2017
12
Inhibition of versican expression by siRNA facilitates tropoelastin synthesis and elastic fiber formation by human SK-LMS-1 leiomyosarcoma smooth muscle cells in vitro and in vivo. ( 26723257 )
2016
13
Gastrointestinal (GI) leiomyosarcoma (LMS) case series and review on diagnosis, management, and prognosis. ( 26786155 )
2016
14
Radiotherapy-induced xerostomia, pre-clinical promise of LMS-611. ( 26143037 )
2016
15
Growth reference for Saudi preschool children: LMS parameters and percentiles. ( 26922681 )
2016
16
LMS tables for waist circumference and waist-height ratio in Colombian adults: analysis of nationwide data 2010. ( 27026425 )
2016
17
An evaluation and selection problems of OSS-LMS packages. ( 27064567 )
2016
18
Blind Deconvolution of Ultrasound Images Using l1 -Norm-Constrained Block-Based Damped Variable Step-Size Multichannel LMS Algorithm. ( 27295663 )
2016
19
Standardized Centile Curves and Reference Intervals of Serum Thymidine Kinase 1 Levels in a Normal Chinese Population Using the LMS Method. ( 27337028 )
2016
20
Growth reference for Saudi school-age children and adolescents: LMS parameters and percentiles. ( 27478912 )
2016
21
The LMS and Z scale growth reference for Saudi school-age children and adolescents. ( 27488329 )
2016
22
Conditions Optimizing and Application of Laccase-mediator System (LMS) for the Laccase-catalyzed Pesticide Degradation. ( 27775052 )
2016
23
Weight and height percentiles calculated by the LMS method in Argentinean schoolchildren. A comparative references study. ( 25357226 )
2015
24
Differentially Expressed Genes in EEC and LMS Syndromes. ( 26075610 )
2015
25
A Comparison between LMS tools to support e-health educational activities. ( 26262424 )
2015
26
LMS tables for waist-circumference and waist-height ratio Z-scores in children aged 5-19 y in NHANES III: association with cardio-metabolic risks. ( 26331767 )
2015
27
Establishing cross-sectional curves for height, weight, body mass index and waist circumference for 4- to 18-year-old Greek children, using the Lambda Mu and Sigma (LMS) statistical method. ( 27418784 )
2015
28
Demystifying LMS and BCPE methods of centile estimation for growth and other health parameters. ( 24561465 )
2014
29
Reference values for Japanese children's respiratory resistance using the LMS method. ( 24569154 )
2014
30
Enhanced performance of visible light communication employing 512-QAM N-SC-FDE and DD-LMS. ( 24977792 )
2014
31
Reference values for spirometry, including vital capacity, in Japanese adults calculated with the LMS method and compared with previous values. ( 24998371 )
2014
32
Derivation of pediatric within-individual biological variation by indirect sampling method: an LMS approach. ( 25319981 )
2014
33
Signed-gradient adaptive step size LMS algorithm for biomedical applications. ( 25570673 )
2014
34
Height, weight and body mass index by age and sex in children aged 4 to 6 years in Merida, Mexico, as compared to international references after normalization with LMS. ( 25842750 )
2014
35
Varying accuracy of myocardial perfusion SPECT and perfusion cardiac MRI for the detection of critical LMS coronary disease. ( 23861146 )
2013
36
A novel gradient adaptive step size LMS algorithm with dual adaptive filters. ( 24110809 )
2013
37
Construction of LMS parameters for the Centers for Disease Control and Prevention 2000 growth charts. ( 24992748 )
2013
38
Usability issues in Learning Management Systems (LMS). ( 22316825 )
2012
39
A new LMS algorithm for analysis of atrial fibrillation signals. ( 22449196 )
2012
40
Genome sequence determination and analysis of a Chinese virulent strain, LMS, of Gallid herpesvirus type 2. ( 22476905 )
2012
41
Mesorhizobium ciceri LMS-1 expressing an exogenous 1-aminocyclopropane-1-carboxylate (ACC) deaminase increases its nodulation abilities and chickpea plant resistance to soil constraints. ( 22486441 )
2012
42
Modified Log-LMS adaptive filter with low signal distortion for biomedical applications. ( 23367103 )
2012
43
Adaptive filter design based on the LMS algorithm for delay elimination in TCR/FC compensators. ( 21193194 )
2011
44
Trimble GX200 and Riegl LMS-Z390i sensor self-calibration. ( 21369089 )
2011
45
Analysis and compensation of the effects of analog VLSI arithmetic on the LMS algorithm. ( 21622073 )
2011
46
Halftone image classification using LMS algorithm and naive Bayes. ( 21926004 )
2011
47
Extreme percentiles of the 2000 Centers for Disease Control and Prevention BMI chart and the LMS method. ( 20053876 )
2010
48
Physical growth of schoolchildren from the Jequitinhonha Valley, Minas Gerais, Brazil: Comparison with the CDC-2000 reference using the LMS method. ( 20113180 )
2010
49
Application of laccase-mediator system (LMS) for the degradation of organophosphorus compounds. ( 20149786 )
2010
50
An integrated study of aberrant gene copy number and gene expression in GIST and LMS. ( 20218739 )
2010

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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