UMS
MCID: ULN003
MIFTS: 52

Ulnar-Mammary Syndrome (UMS) malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Ulnar-Mammary Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Ulnar?mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

MalaCards: Ulnar-Mammary Syndrome, also known as ulnar-mammary syndrome of pallister, is related to dandy-walker like malformation with atrioventricular septal defect and acrocallosal syndrome, and has symptoms including camptodactyly of some fingers, postaxial polydactyly (hand) and terminal/third phalangeal bone of fingers hypoplasia. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-box 3), and among its related pathways is Heart Development. Affiliated tissues include breast, testes and bone, and related mouse phenotypes are skeleton and craniofacial.

Description from OMIM:48 181450

Aliases & Classifications for Ulnar-Mammary Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

ulnar-mammary syndrome 44 21 23 48 46 50 63
ulnar-mammary syndrome of pallister 44 50
schinzel syndrome 44 50
ums 44 50


External Ids:

OMIM48 181450
MESH via Orphanet37 C536937
ICD10 via Orphanet27 Q71.8
UMLS via Orphanet64 C1866994

Related Diseases for Ulnar-Mammary Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dandy-walker like malformation with atrioventricular septal defect10.4
2acrocallosal syndrome10.2
3adult syndrome10.2
4mental retardation10.2
5split hand10.2
6congenital heart disease10.0TBX1, TBX5
7holt-oram syndrome9.9TBX1, TBX3, TBX5
8digeorge syndrome9.9TBX5, TBX3, TBX1

Graphical network of diseases related to Ulnar-Mammary Syndrome:



Diseases related to ulnar-mammary syndrome

Symptoms for Ulnar-Mammary Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

181450

Clinical features from OMIM:

181450

Symptoms:

50 (show all 38)
  • camptodactyly of some fingers
  • postaxial polydactyly (hand)
  • terminal/third phalangeal bone of fingers hypoplasia
  • metacarpal anomalies/archibald's sign
  • hand agenesis/absence
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • thin/hypoplastic toenails
  • gastric/pyloric stenosis
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus ectopia/anteposition/malposition
  • laryngomalacia
  • ventricular septal defect/interventricular communication
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • agenesis/hypoplasia/aplasia of kidneys
  • autosomal dominant inheritance
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • inguinal/inguinoscrotal/crural hernia
  • micropenis/small penis/agenesis
  • uterine/uterus/fallopian tubes anomalies
  • wrist/carpal anomalies
  • hypoplastic/absent nipples
  • thin/hypoplastic/hyperconvex fingernails
  • decreased body hair/axillar/pubic hairlessness
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • oligodactyly/ectrodactyly of fingers
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • late puberty/hypogonadism/hypogenitalism
  • pectus carinatum
  • absent pectoral muscles
  • breast tissue/mammary gland absence/aplasia
  • clavicle absent/abnormal
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • anodontia/oligodontia/hypodontia
  • short stature/dwarfism/nanism
  • generalized obesity
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Ulnar-Mammary Syndrome

Drug clinical trials:

Search ClinicalTrials for Ulnar-Mammary Syndrome

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Search CenterWatch for Ulnar-Mammary Syndrome

Genetic Tests for Ulnar-Mammary Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Ulnar-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome21 23 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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34MalaCards
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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

34
Breast, Testes, Bone, Uterus, Kidney, Heart

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8TBX1, TBX3, TBX5
2MP:00053828.7TBX1, TBX2, TBX3
3MP:00053818.6TBX3, TBX2, TBX1
4MP:00053698.5TBX1, TBX3, TBX5
5MP:00053718.2TBX1, TBX2, TBX3, TBX5
6MP:00053808.2TBX5, TBX3, TBX2, TBX1
7MP:00028738.2TBX5, TBX3, TBX2, TBX1
8MP:00053858.1TBX1, TBX2, TBX3, TBX5
9MP:00053768.1TBX5, TBX3, TBX2, TBX1
10MP:00107687.9TBX5, TBX3, TBX2, TBX1

Publications for Ulnar-Mammary Syndrome

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53PubMed
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Articles related to Ulnar-Mammary Syndrome:

(show all 27)
idTitleAuthorsYear
1
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome. (23844108)
2013
2
Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome. (22391622)
2012
3
The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development. (22535523)
2012
4
The face of Ulnar Mammary syndrome? (21199695)
2011
5
Ulnar Mammary syndrome and TBX3: expanding the phenotype. (19938096)
2009
6
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. (17265068)
2007
7
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
2006
8
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. (16530712)
2006
9
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. (16892408)
2006
10
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. (16222716)
2005
11
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. (16114047)
2005
12
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. (16059946)
2005
13
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. (12668638)
2003
14
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. (12668170)
2002
15
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. (12116211)
2002
16
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. (11748239)
2002
17
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (12005433)
2002
18
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (11689487)
2001
19
The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (10330342)
1999
20
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (10468588)
1999
21
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (9207801)
1997
22
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. (8923944)
1996
23
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. (8595424)
1995
24
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. (1481852)
1992
25
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. (3621662)
1987
26
Ulnar-mammary syndrome. (3430557)
1987
27
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. (991870)
1976

Variations for Ulnar-Mammary Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

65
id Symbol AA change Variation ID SNP ID
1TBX3p.Leu143ProVAR_009601
2TBX3p.Tyr149SerVAR_009602

Clinvar genetic disease variations for Ulnar-Mammary Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1TBX3NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397514484GRCh37Chr 12, 115114166: 115114166
2TBX3TBX3, 1-BP DEL, 227TdeletionPathogenic
3TBX3TBX3, IVS2DS, G-C, +1single nucleotide variantPathogenic
4TBX3NM_016569.3(TBX3): c.877A> T (p.Lys293Ter)single nucleotide variantPathogenicrs104894376GRCh37Chr 12, 115115449: 115115449
5TBX3TBX3, 1-BP INS, 88AinsertionPathogenic

Expression for genes affiliated with Ulnar-Mammary Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ulnar-Mammary Syndrome

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

Pathways for genes affiliated with Ulnar-Mammary Syndrome

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51PathCards, 39NCBI BioSystems Database
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Pathways related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5TBX1, TBX2, TBX5

Compounds for genes affiliated with Ulnar-Mammary Syndrome

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GO Terms for genes affiliated with Ulnar-Mammary Syndrome

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17Gene Ontology
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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.7TBX2, TBX5
2nucleusGO:0056348.0TBX1, TBX2, TBX3, TBX5

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.7TBX5, TBX1
2forelimb morphogenesisGO:0351369.6TBX3, TBX5
3blood vessel developmentGO:0015689.6TBX1, TBX3
4embryonic forelimb morphogenesisGO:0351159.6TBX3, TBX5
5mammary placode formationGO:0605969.5TBX3, TBX2
6pattern specification processGO:0073899.4TBX1, TBX5
7aorta morphogenesisGO:0359099.4TBX2, TBX1
8outflow tract septum morphogenesisGO:0031489.4TBX2, TBX1
9cellular senescenceGO:0903989.4TBX3, TBX2
10cell agingGO:0075699.4TBX2, TBX3
11regulation of transcription from RNA polymerase II promoterGO:0063579.3TBX1, TBX3
12heart developmentGO:0075079.3TBX1, TBX5
13positive regulation of cardiac muscle cell proliferationGO:0600459.3TBX2, TBX5
14embryonic digit morphogenesisGO:0427339.3TBX2, TBX3
15palate developmentGO:0600219.2TBX3, TBX2
16negative regulation of transcription, DNA-templatedGO:0458929.1TBX2, TBX3
17positive regulation of transcription, DNA-templatedGO:0458939.0TBX5, TBX3, TBX1
18outflow tract morphogenesisGO:0031518.9TBX1, TBX2, TBX3
19positive regulation of cell proliferationGO:0082848.8TBX3, TBX2, TBX1
20transcription, DNA-templatedGO:0063518.3TBX3, TBX2, TBX1

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.5TBX5, TBX2, TBX1
2sequence-specific DNA bindingGO:0435657.9TBX5, TBX3, TBX2, TBX1
3sequence-specific DNA binding transcription factor activityGO:0037007.7TBX5, TBX3, TBX2, TBX1

Products for genes affiliated with Ulnar-Mammary Syndrome

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Sources for Ulnar-Mammary Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet