UMS
MCID: ULN003
MIFTS: 46

Ulnar-Mammary Syndrome (UMS) malady

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

Aliases & Classifications for Ulnar-Mammary Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 52 11 48 24 54 70 27 12 50 39 13 68
Schinzel Syndrome 11 48 24 54
Ums 48 54 70
 
Pallister Ulnar-Mammary Syndrome 11 54
Ulnar-Mammary Syndrome of Pallister 48

Characteristics:

Orphanet epidemiological data:

54
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
ulnar-mammary syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 181450
Disease Ontology11 DOID:0060614
ICD1030 Q71.8
MeSH39 C536937
Orphanet54 ORPHA3138
MESH via Orphanet40 C536937
UMLS via Orphanet69 C1866994
ICD10 via Orphanet31 Q71.8
MedGen37 C1866994

Summaries for Ulnar-Mammary Syndrome

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Disease Ontology:11 A syndrome that has material basis in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.

MalaCards based summary: Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ritscher-schinzel syndrome and ritscher-schinzel syndrome 2, and has symptoms including inguinal hernia, shawl scrotum and micropenis. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box 3), and among its related pathways are Heart Development and Mesodermal Commitment Pathway. Affiliated tissues include breast, pituitary and bone, and related mouse phenotypes are digestive/alimentary and craniofacial.

OMIM:52 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or... (181450) more...

UniProtKB/Swiss-Prot:70 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia:71 Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and... more...

Related Diseases for Ulnar-Mammary Syndrome

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Graphical network of diseases related to Ulnar-Mammary Syndrome:



Diseases related to ulnar-mammary syndrome

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

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Symptoms by clinical synopsis from OMIM:

181450

Clinical features from OMIM:

181450

Human phenotypes related to Ulnar-Mammary Syndrome:

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 shawl scrotum64 HP:0000049
3 micropenis64 HP:0000054
4 hypodontia64 HP:0000668
5 delayed puberty64 HP:0000823
6 hypoplastic scapulae64 HP:0000882
7 short clavicles64 HP:0000894
8 postaxial hand polydactyly64 HP:0001162
9 obesity64 HP:0001513
10 subglottic stenosis64 HP:0001607
11 ventricular septal defect64 HP:0001629
12 pyloric stenosis64 HP:0002021
13 anal atresia64 HP:0002023
14 anal stenosis64 HP:0002025
15 sparse axillary hair64 HP:0002215
16 hypoplastic nipples64 HP:0002557
17 hypoplasia of the radius64 HP:0002984
18 hypoplasia of the ulna64 HP:0003022
19 inverted nipples64 HP:0003186
20 breast hypoplasia64 HP:0003187
21 absent radius64 HP:0003974
22 deformed radius64 HP:0003977
23 absent ulna64 HP:0003982
24 sparse lateral eyebrow64 HP:0005338
25 short humerus64 HP:0005792
26 axillary apocrine gland hypoplasia64 HP:0007397
27 short 4th toe64 HP:0008093
28 anterior pituitary hypoplasia64 HP:0010627
29 ectopic posterior pituitary64 HP:0011755
30 short 5th toe64 HP:0011917
31 imperforate hymen64 HP:0030011

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.4TBX1, TBX2, TBX3, TBX6
2MP:00053828.5TBX1, TBX15, TBX18, TBX2, TBX3
3MP:00053698.5TBX1, TBX15, TBX18, TBX3, TBX5
4MP:00053718.4TBX1, TBX15, TBX2, TBX3, TBX5, TBX6
5MP:00053858.2TBX1, TBX18, TBX2, TBX3, TBX5, TBX6
6MP:00053807.6TBX1, TBX15, TBX18, TBX2, TBX3, TBX5
7MP:00053787.6TBX1, TBX15, TBX18, TBX2, TBX3, TBX5
8MP:00107687.5TBX1, TBX15, TBX18, TBX2, TBX3, TBX5
9MP:00053907.2TBX1, TBX15, TBX18, TBX3, TBX5, TBX6

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of TBX3 in Human ES Cell DifferentiationUnknown statusNCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome


Cochrane evidence based reviews: ulnar-mammary syndrome

Genetic Tests for Ulnar-Mammary Syndrome

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Genetic tests related to Ulnar-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome27 24 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

36
Breast, Pituitary, Bone

Publications for Ulnar-Mammary Syndrome

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Articles related to Ulnar-Mammary Syndrome:

(show all 32)
idTitleAuthorsYear
1
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. (28145909)
2017
2
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. (27491074)
2016
3
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. (25328580)
2014
4
Ulnar mammary syndrome. (24679913)
2014
5
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. (24675841)
2014
6
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome. (23844108)
2013
7
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
8
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
9
The face of Ulnar Mammary syndrome? (21199695)
2011
10
Ulnar Mammary syndrome and TBX3: expanding the phenotype. (19938096)
2009
11
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. (17265068)
2007
12
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
2006
13
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
14
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. (16892408)
2006
15
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. (16222716)
2005
16
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
17
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. (16059946)
2005
18
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. (12668638)
2003
19
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. (12668170)
2002
20
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. (12116211)
2002
21
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (12005433)
2002
22
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. (11748239)
2002
23
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (11689487)
2001
24
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (10468588)
1999
25
The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (10330342)
1999
26
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (9207801)
1997
27
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. (8923944)
1996
28
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. (8595424)
1995
29
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. (1481852)
1992
30
Ulnar-mammary syndrome. (3430557)
1987
31
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. (3621662)
1987
32
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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UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

70
id Symbol AA change Variation ID SNP ID
1TBX3p.Leu143ProVAR_009601
2TBX3p.Tyr149SerVAR_009602

Clinvar genetic disease variations for Ulnar-Mammary Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TBX3NM_ 016569.3(TBX3): c.1051C> T (p.Gln351Ter)SNVPathogenicrs397514484GRCh37Chr 12, 115114166: 115114166
2TBX3NM_ 016569.3(TBX3): c.1483C> T (p.Gln495Ter)SNVPathogenicrs1060505020GRCh37Chr 12, 115112257: 115112257
3TBX3TBX3, 1-BP DEL, 227TdeletionPathogenic
4TBX3TBX3, IVS2DS, G-C, +1SNVPathogenic
5TBX3NM_ 016569.3(TBX3): c.877A> T (p.Lys293Ter)SNVPathogenicrs104894376GRCh37Chr 12, 115115449: 115115449
6TBX3TBX3, 1-BP INS, 88AinsertionPathogenic

Expression for genes affiliated with Ulnar-Mammary Syndrome

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

Pathways for genes affiliated with Ulnar-Mammary Syndrome

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Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1TBX1, TBX2, TBX5
2
Show member pathways
9.1TBX1, TBX3, TBX6

GO Terms for genes affiliated with Ulnar-Mammary Syndrome

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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.7TBX1, TBX15, TBX18, TBX2, TBX3, TBX5

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle cell differentiationGO:005500710.5TBX3, TBX5
2embryonic forelimb morphogenesisGO:003511510.5TBX3, TBX5
3forelimb morphogenesisGO:003513610.5TBX3, TBX5
4cell agingGO:000756910.5TBX2, TBX3
5cellular senescenceGO:009039810.5TBX2, TBX3
6embryonic digit morphogenesisGO:004273310.5TBX2, TBX3
7embryonic heart tube developmentGO:003505010.5TBX2, TBX3
8heart loopingGO:000194710.5TBX2, TBX3
9mammary placode formationGO:006059610.5TBX2, TBX3
10palate developmentGO:006002110.4TBX2, TBX3
11positive regulation of cardiac muscle cell proliferationGO:006004510.4TBX2, TBX5
12blood vessel developmentGO:000156810.4TBX1, TBX3
13pattern specification processGO:000738910.3TBX1, TBX5
14aorta morphogenesisGO:003590910.3TBX1, TBX2
15outflow tract septum morphogenesisGO:000314810.3TBX1, TBX2
16cell fate specificationGO:000170810.2TBX1, TBX6
17mesoderm developmentGO:000749810.2TBX1, TBX6
18embryonic cranial skeleton morphogenesisGO:004870110.1TBX1, TBX15
19positive regulation of transcription, DNA-templatedGO:004589310.0TBX1, TBX3, TBX5
20heart morphogenesisGO:00030079.9TBX1, TBX2, TBX3
21outflow tract morphogenesisGO:00031519.9TBX1, TBX2, TBX3
22positive regulation of cell proliferationGO:00082849.9TBX1, TBX2, TBX3
23negative regulation of transcription from RNA polymerase II promoterGO:00001228.5TBX15, TBX18, TBX2, TBX3, TBX6
24multicellular organism developmentGO:00072758.2TBX1, TBX18, TBX2, TBX3, TBX5, TBX6
25regulation of transcription, DNA-templatedGO:00063557.5TBX1, TBX15, TBX18, TBX2, TBX3, TBX5
26transcription, DNA-templatedGO:00063516.7TBX1, TBX15, TBX18, TBX2, TBX3, TBX5

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:000110210.3TBX3, TBX6
2RNA polymerase II transcription factor bindingGO:000108510.3TBX3, TBX6
3RNA polymerase II transcription corepressor activityGO:00011069.8TBX15, TBX18
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.8TBX15, TBX2, TBX3
5transcription regulatory region sequence-specific DNA bindingGO:00009769.6TBX15, TBX18
6sequence-specific DNA bindingGO:00435659.4TBX1, TBX2, TBX3, TBX5
7transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.0TBX15, TBX2, TBX3
8DNA bindingGO:00036777.5TBX1, TBX15, TBX18, TBX2, TBX3, TBX5
9transcription factor activity, sequence-specific DNA bindingGO:00037007.3TBX1, TBX15, TBX18, TBX2, TBX3, TBX5

Sources for Ulnar-Mammary Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet