LMS
MCID: LMB008
MIFTS: 36

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 58 54 60 76 38 30 13 56 6 74
Lms 58 54 60 76
Mammary Hypoplasia, Ectrodactyly, and Other Hand/foot Anomalies 54
Syndrome, Limb-Mammary 41

Characteristics:

Orphanet epidemiological data:

60
limb-mammary syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
limb-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Limb-Mammary Syndrome

NIH Rare Diseases : 54 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 lateral meningocele syndrome and microcystic lymphatic malformation. An important gene associated with Limb-Mammary Syndrome is TP63 (Tumor Protein P63). Affiliated tissues include breast, skin and uterus, and related phenotypes are hypoplastic nipples and breast aplasia

UniProtKB/Swiss-Prot : 76 Limb-mammary syndrome: Characterized by ectrodactyly, cleft palate and mammary-gland abnormalities.

Wikipedia : 77 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 lateral meningocele syndrome 11.4
2 microcystic lymphatic malformation 11.3
3 laurence-moon syndrome 11.1
4 lenz-majewski hyperostotic dwarfism 11.1
5 lactose intolerance 11.1
6 spondyloenchondrodysplasia 10.6
7 leiomyosarcoma 10.2
8 adult syndrome 10.1
9 isolated split hand-split foot malformation 10.1
10 lentigines 10.0
11 prostate cancer 10.0
12 neural tube defects 10.0
13 retinitis pigmentosa 10.0
14 neural tube defects, folate-sensitive 10.0
15 prostate cancer, hereditary, 8 10.0
16 body mass index quantitative trait locus 1 10.0
17 prostate cancer, hereditary, 6 10.0
18 blood group, junior system 10.0
19 sclerosing cholangitis, neonatal 10.0
20 testicular cancer 10.0
21 polymyositis 10.0
22 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 9.9
23 split-hand/foot malformation 1 9.9
24 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.9
25 blood group--wright antigen 9.9
26 cleft palate, isolated 9.9
27 retinoblastoma 9.9
28 rheumatoid arthritis 9.9
29 disorganization, mouse, homolog of 9.9
30 insulin-like growth factor i 9.9
31 brittle bone disorder 9.9
32 gastrointestinal stromal tumor 9.9
33 anxiety 9.9
34 alpha-1-antitrypsin deficiency 9.9
35 burns 9.9
36 cataract 9.9
37 pancreas adenocarcinoma 9.9
38 atrial fibrillation 9.9
39 obstructive nephropathy 9.9
40 adenoid cystic carcinoma 9.9
41 japanese encephalitis 9.9
42 sarcoma 9.9
43 anus cancer 9.9
44 adenocarcinoma 9.9
45 complex regional pain syndrome 9.9
46 endometrial stromal sarcoma 9.9
47 paraplegia 9.9
48 muscular atrophy 9.9
49 col1a1/2-related osteogenesis imperfecta 9.9
50 carcinoma showing thymus-like differentiation 9.9

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



Diseases related to Limb-Mammary Syndrome

Symptoms & Phenotypes for Limb-Mammary Syndrome

Human phenotypes related to Limb-Mammary Syndrome:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic nipples 60 33 frequent (33%) Frequent (79-30%) HP:0002557
2 breast aplasia 60 33 frequent (33%) Frequent (79-30%) HP:0100783
3 absent nipple 60 33 frequent (33%) Frequent (79-30%) HP:0002561
4 lacrimal duct atresia 60 33 frequent (33%) Frequent (79-30%) HP:0000564
5 absent lacrimal punctum 60 33 frequent (33%) Frequent (79-30%) HP:0001092
6 bilateral breast hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0012814
7 dry skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000958
8 hypohidrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000966
9 blepharitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000498
10 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
11 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
12 nail dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002164
13 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
14 bifid uvula 60 33 occasional (7.5%) Occasional (29-5%) HP:0000193
15 oligodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012165
16 submucous cleft soft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0011819
17 cleft lip 60 33 occasional (7.5%) Occasional (29-5%) HP:0410030
18 3-4 finger cutaneous syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0011939
19 chronic irritative conjunctivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0007717
20 cleft hard palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0410005
21 malar flattening 60 33 very rare (1%) Very rare (<4-1%) HP:0000272
22 primary amenorrhea 60 33 very rare (1%) Very rare (<4-1%) HP:0000786
23 alopecia 60 33 very rare (1%) Very rare (<4-1%) HP:0001596
24 protruding ear 60 33 very rare (1%) Very rare (<4-1%) HP:0000411
25 multiple cafe-au-lait spots 60 33 very rare (1%) Very rare (<4-1%) HP:0007565
26 aplasia of the uterus 60 33 very rare (1%) Very rare (<4-1%) HP:0000151
27 sparse eyebrow 60 33 very rare (1%) Very rare (<4-1%) HP:0045075
28 freckling 60 33 very rare (1%) Very rare (<4-1%) HP:0001480
29 aplasia of the ovary 60 33 very rare (1%) Very rare (<4-1%) HP:0010463
30 psoriasiform dermatitis 60 33 very rare (1%) Very rare (<4-1%) HP:0003765
31 cleft palate 60 33 Occasional (29-5%) HP:0000175
32 syndactyly 60 33 Occasional (29-5%) HP:0001159
33 split hand 33 HP:0001171
34 hallux valgus 33 HP:0001822
35 camptodactyly 33 HP:0012385
36 split foot 33 HP:0001839
37 joint contracture of the hand 33 HP:0009473

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TP63

Anatomical Context for Limb-Mammary Syndrome

MalaCards organs/tissues related to Limb-Mammary Syndrome:

42
Breast, Skin, Uterus, Bone, Ovary, Prostate, Eye

Publications for Limb-Mammary Syndrome

Articles related to Limb-Mammary Syndrome:

(show top 50) (show all 116)
# Title Authors Year
1
Ultra-low gas permeable cellulose nanofiber nanocomposite films filled with highly oriented graphene oxide nanosheets induced by shear field. ( 30732813 )
2019
2
Standardizing test scores for a target population: The LMS method illustrated using language measures from the SCALES project. ( 30845265 )
2019
3
Optimization of Laccase/Mediator System (LMS) Stage Applied in Fractionation of Eucalyptus globulus. ( 31013642 )
2019
4
Application of the LMS method of constructing fetal reference charts: comparison with the original method. ( 31039657 )
2019
5
Application of LMS-Based NN Structure for Power Quality Enhancement in a Distribution Network Under Abnormal Conditions. ( 28328518 )
2018
6
Reference Values for Spirometry Derived Using Lambda, Mu, Sigma (LMS) Method in Korean Adults: in Comparison with Previous References. ( 29215803 )
2018
7
Effect of 2-methoxyestradiol on SK-LMS-1 uterine leiomyosarcoma cells. ( 28693141 )
2017
8
A universal modified LMS algorithm with iteration order hybrid switching. ( 27979311 )
2017
9
Waist circumference and waist:height ratio percentiles using LMS method in Chilean population. ( 28017525 )
2017
10
Lectin-magnetic separation (LMS) for isolation of Toxoplasma gondii oocysts from concentrated water samples prior to detection by microscopy or qPCR. ( 28249214 )
2017
11
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
12
An LMS Programming Scheme and Floating-Gate Technology Enabled Trimmer-Less and Low Voltage Flame Detection Sensor. ( 28613250 )
2017
13
Adaptive step size LMS improves ECG detection during MRI at 1.5 and 3 T. ( 28631204 )
2017
14
Using LMS tables to determine waist circumference and waist-to-height ratios in Colombian children and adolescents: the FUPRECOL study. ( 28697745 )
2017
15
Use of lectin-magnetic separation (LMS) for detecting Toxoplasma gondii oocysts in environmental water samples. ( 29031801 )
2017
16
Complex regional pain syndrome: Measurement matters: Re: Galve-Villa M, Rittig-Rasmussen B, Mikkelsen LMS, Poulsen AG. Complex Regional Pain Syndrome. Manual Therapy 2016;26:e2-3. ( 27527554 )
2016
17
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
18
Gastrointestinal (GI) leiomyosarcoma (LMS) case series and review on diagnosis, management, and prognosis. ( 26786155 )
2016
19
Radiotherapy-induced xerostomia, pre-clinical promise of LMS-611. ( 26143037 )
2016
20
Growth reference for Saudi preschool children: LMS parameters and percentiles. ( 26922681 )
2016
21
LMS tables for waist circumference and waist-height ratio in Colombian adults: analysis of nationwide data 2010. ( 27026425 )
2016
22
An evaluation and selection problems of OSS-LMS packages. ( 27064567 )
2016
23
Blind Deconvolution of Ultrasound Images Using l1 -Norm-Constrained Block-Based Damped Variable Step-Size Multichannel LMS Algorithm. ( 27295663 )
2016
24
Standardized Centile Curves and Reference Intervals of Serum Thymidine Kinase 1 Levels in a Normal Chinese Population Using the LMS Method. ( 27337028 )
2016
25
Special cascade LMS equalization scheme suitable for 60-GHz RoF transmission system. ( 27409882 )
2016
26
Growth reference for Saudi school-age children and adolescents: LMS parameters and percentiles. ( 27478912 )
2016
27
The LMS and Z scale growth reference for Saudi school-age children and adolescents. ( 27488329 )
2016
28
Conditions Optimizing and Application of Laccase-mediator System (LMS) for the Laccase-catalyzed Pesticide Degradation. ( 27775052 )
2016
29
Trabectedin in combination with doxorubicin for first-line treatment of advanced uterine or soft-tissue leiomyosarcoma (LMS-02): a non-randomised, multicentre, phase 2 trial. ( 25795402 )
2015
30
Skin metastases of leiomyosarcoma (LMS): a retrospective review of 21 cases. ( 25890461 )
2015
31
The regulatory function of miR-200c on inflammatory and cell-cycle associated genes in SK-LMS-1, a leiomyosarcoma cell line. ( 25305131 )
2015
32
Weight and height percentiles calculated by the LMS method in Argentinean schoolchildren. A comparative references study. ( 25357226 )
2015
33
Differentially Expressed Genes in EEC and LMS Syndromes. ( 26075610 )
2015
34
Child Weight Growth Chart and Its Associated Factors in Birth Cohort of Maku Using a Growth Curve Model and LMS Method. ( 26153171 )
2015
35
A Comparison between LMS tools to support e-health educational activities. ( 26262424 )
2015
36
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
37
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
38
Demystifying LMS and BCPE methods of centile estimation for growth and other health parameters. ( 24561465 )
2014
39
Reference values for Japanese children's respiratory resistance using the LMS method. ( 24569154 )
2014
40
Enhanced performance of visible light communication employing 512-QAM N-SC-FDE and DD-LMS. ( 24977792 )
2014
41
Reference values for spirometry, including vital capacity, in Japanese adults calculated with the LMS method and compared with previous values. ( 24998371 )
2014
42
Derivation of pediatric within-individual biological variation by indirect sampling method: an LMS approach. ( 25319981 )
2014
43
Signed-gradient adaptive step size LMS algorithm for biomedical applications. ( 25570673 )
2014
44
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
45
Is there a benefit to use calculated percent body fat or age- and gender-adjusted BMI-SDS(LMS) to predict risk factors for cardiovascular disease? A German/Austrian multicenter DPV-Wiss analysis on 42 048 type 2 diabetic patients. ( 23426699 )
2013
46
Varying accuracy of myocardial perfusion SPECT and perfusion cardiac MRI for the detection of critical LMS coronary disease. ( 23861146 )
2013
47
A novel gradient adaptive step size LMS algorithm with dual adaptive filters. ( 24110809 )
2013
48
Construction of LMS parameters for the Centers for Disease Control and Prevention 2000 growth charts. ( 24992748 )
2013
49
Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method. ( 22673406 )
2012
50
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

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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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