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

Aliases & Descriptions for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 54 12 50 24 56 66 29 13 52 42 14 69
Schinzel Syndrome 12 50 24 56
Ums 50 56 66
Pallister Ulnar-Mammary Syndrome 12 56
Ulnar-Mammary Syndrome of Pallister 50

Characteristics:

Orphanet epidemiological data:

56
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

HPO:

32
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 181450
Disease Ontology 12 DOID:0060614
ICD10 33 Q71.8
MeSH 42 C536937
Orphanet 56 ORPHA3138
MESH via Orphanet 43 C536937
UMLS via Orphanet 70 C1866994
ICD10 via Orphanet 34 Q71.8
MedGen 40 C1866994
UMLS 69 C1866994

Summaries for Ulnar-Mammary Syndrome

Disease Ontology : 12 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 obesity, inguinal hernia and delayed puberty. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Heart Development. Affiliated tissues include breast, pituitary and bone, and related phenotypes are cardiovascular system and embryo

OMIM : 54 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or... (181450) more...

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Ulnar-Mammary Syndrome

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

Symptoms by clinical synopsis from OMIM:

181450

Clinical features from OMIM:

181450

Human phenotypes related to Ulnar-Mammary Syndrome:

32 (show all 31)
id Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 inguinal hernia 32 HP:0000023
3 delayed puberty 32 HP:0000823
4 inverted nipples 32 HP:0003186
5 anal atresia 32 HP:0002023
6 ventricular septal defect 32 HP:0001629
7 hypodontia 32 HP:0000668
8 pyloric stenosis 32 HP:0002021
9 sparse lateral eyebrow 32 HP:0005338
10 hypoplasia of the ulna 32 HP:0003022
11 postaxial hand polydactyly 32 HP:0001162
12 hypoplastic nipples 32 HP:0002557
13 micropenis 32 HP:0000054
14 hypoplasia of the radius 32 HP:0002984
15 shawl scrotum 32 HP:0000049
16 hypoplastic scapulae 32 HP:0000882
17 short clavicles 32 HP:0000894
18 anal stenosis 32 HP:0002025
19 absent radius 32 HP:0003974
20 sparse axillary hair 32 HP:0002215
21 breast hypoplasia 32 HP:0003187
22 absent ulna 32 HP:0003982
23 short humerus 32 HP:0005792
24 short 5th toe 32 HP:0011917
25 subglottic stenosis 32 HP:0001607
26 anterior pituitary hypoplasia 32 HP:0010627
27 short 4th toe 32 HP:0008093
28 ectopic posterior pituitary 32 HP:0011755
29 deformed radius 32 HP:0003977
30 axillary apocrine gland hypoplasia 32 HP:0007397
31 imperforate hymen 32 HP:0030011

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 TBX1 TBX18 TBX2 TBX3 TBX5 TBX6
2 embryo MP:0005380 9.91 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
3 growth/size/body region MP:0005378 9.87 TBX18 TBX2 TBX3 TBX5 TBX6 TBX1
4 craniofacial MP:0005382 9.83 TBX1 TBX15 TBX18 TBX2 TBX3
5 limbs/digits/tail MP:0005371 9.73 TBX1 TBX15 TBX2 TBX3 TBX5 TBX6
6 digestive/alimentary MP:0005381 9.71 TBX1 TBX2 TBX3 TBX6
7 mortality/aging MP:0010768 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
8 muscle MP:0005369 9.35 TBX1 TBX15 TBX18 TBX3 TBX5
9 skeleton MP:0005390 9.1 TBX1 TBX15 TBX18 TBX3 TBX5 TBX6

Drugs & Therapeutics for Ulnar-Mammary Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Genetic Tests for Ulnar-Mammary Syndrome

Genetic tests related to Ulnar-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 29 24 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

39
Breast, Pituitary, Bone

Publications for Ulnar-Mammary Syndrome

Articles related to Ulnar-Mammary Syndrome:

(show all 32)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX3 TBX3, 1-BP DEL, 227T deletion Pathogenic
2 TBX3 TBX3, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
3 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh37 Chromosome 12, 115115449: 115115449
4 TBX3 TBX3, 1-BP INS, 88A insertion Pathogenic
5 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh37 Chromosome 12, 115114166: 115114166
6 TBX3 NM_016569.3(TBX3): c.1483C> T (p.Gln495Ter) single nucleotide variant Pathogenic rs1060505020 GRCh37 Chromosome 12, 115112257: 115112257

Expression for Ulnar-Mammary Syndrome

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

Pathways for Ulnar-Mammary Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 TBX1 TBX3 TBX6
2 10.46 TBX1 TBX2 TBX5

GO Terms for Ulnar-Mammary Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.8 TBX1 TBX3 TBX5
2 positive regulation of cell proliferation GO:0008284 9.8 TBX1 TBX2 TBX3
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.8 TBX15 TBX18 TBX2 TBX3 TBX6
4 regulation of transcription, DNA-templated GO:0006355 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
5 palate development GO:0060021 9.62 TBX2 TBX3
6 embryonic digit morphogenesis GO:0042733 9.61 TBX2 TBX3
7 heart looping GO:0001947 9.61 TBX2 TBX3
8 pattern specification process GO:0007389 9.6 TBX1 TBX5
9 blood vessel development GO:0001568 9.59 TBX1 TBX3
10 mesoderm development GO:0007498 9.58 TBX1 TBX6
11 embryonic cranial skeleton morphogenesis GO:0048701 9.58 TBX1 TBX15
12 embryonic forelimb morphogenesis GO:0035115 9.57 TBX3 TBX5
13 cardiac muscle cell differentiation GO:0055007 9.56 TBX3 TBX5
14 cell aging GO:0007569 9.55 TBX2 TBX3
15 outflow tract septum morphogenesis GO:0003148 9.54 TBX1 TBX2
16 heart morphogenesis GO:0003007 9.54 TBX1 TBX2 TBX3
17 cellular senescence GO:0090398 9.52 TBX2 TBX3
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.51 TBX2 TBX5
19 transcription, DNA-templated GO:0006351 9.5 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
20 embryonic heart tube development GO:0035050 9.49 TBX2 TBX3
21 cell fate specification GO:0001708 9.48 TBX1 TBX6
22 aorta morphogenesis GO:0035909 9.46 TBX1 TBX2
23 forelimb morphogenesis GO:0035136 9.43 TBX3 TBX5
24 outflow tract morphogenesis GO:0003151 9.43 TBX1 TBX2 TBX3
25 mammary placode formation GO:0060596 9.32 TBX2 TBX3
26 multicellular organism development GO:0007275 9.1 TBX1 TBX18 TBX2 TBX3 TBX5 TBX6

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.61 TBX15 TBX2 TBX3
2 sequence-specific DNA binding GO:0043565 9.56 TBX1 TBX2 TBX3 TBX5
3 DNA binding GO:0003677 9.5 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.46 TBX15 TBX18
5 RNA polymerase II transcription factor binding GO:0001085 9.4 TBX3 TBX6
6 RNA polymerase II activating transcription factor binding GO:0001102 9.37 TBX3 TBX6
7 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001078 9.33 TBX15 TBX2 TBX3
8 RNA polymerase II transcription corepressor activity GO:0001106 9.32 TBX15 TBX18
9 transcription factor activity, sequence-specific DNA binding GO:0003700 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

Sources for Ulnar-Mammary Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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