MCID: ULN003
MIFTS: 45

Ulnar-Mammary Syndrome malady

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

Aliases & Classifications for Ulnar-Mammary Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 50 46 23 52 68 25 12 48 66
Schinzel Syndrome 46 23 52
Ums 46 52 68
 
Ulnar-Mammary Syndrome of Pallister 46
Pallister Ulnar-Mammary Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
ulnar-mammary syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 181450
Orphanet52 ORPHA3138
ICD10 via Orphanet29 Q71.8
MESH via Orphanet38 C536937
UMLS via Orphanet67 C1866994
MedGen35 C1866994

Summaries for Ulnar-Mammary Syndrome

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OMIM:50 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or... (181450) more...

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 hypohidrosis, split hand and abnormality of the fingernails. 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, pituitary and bone, and related mouse phenotypes are muscle and craniofacial.

UniProtKB/Swiss-Prot:68 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia:69 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 for Ulnar-Mammary Syndrome

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Symptoms by clinical synopsis from OMIM:

181450

Clinical features from OMIM:

181450

HPO human phenotypes related to Ulnar-Mammary Syndrome:

(show all 63)
id Description Frequency HPO Source Accession
1 hypohidrosis hallmark (90%) HP:0000966
2 split hand hallmark (90%) HP:0001171
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 abnormal hair quantity hallmark (90%) HP:0011362
5 abnormality of female internal genitalia typical (50%) HP:0000008
6 cryptorchidism typical (50%) HP:0000028
7 decreased fertility typical (50%) HP:0000144
8 obesity typical (50%) HP:0001513
9 abnormality of the wrist typical (50%) HP:0003019
10 short stature typical (50%) HP:0004322
11 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
12 hypoplasia of penis typical (50%) HP:0008736
13 pectus carinatum occasional (7.5%) HP:0000768
14 sprengel anomaly occasional (7.5%) HP:0000912
15 postaxial hand polydactyly occasional (7.5%) HP:0001162
16 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
17 laryngomalacia occasional (7.5%) HP:0001601
18 ventricular septal defect occasional (7.5%) HP:0001629
19 hypoplastic toenails occasional (7.5%) HP:0001800
20 pyloric stenosis occasional (7.5%) HP:0002021
21 abnormality of the humerus occasional (7.5%) HP:0003063
22 absent hand occasional (7.5%) HP:0004050
23 hernia of the abdominal wall occasional (7.5%) HP:0004299
24 ectopic anus occasional (7.5%) HP:0004397
25 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
26 aplasia of the pectoralis major muscle occasional (7.5%) HP:0009751
27 reduced number of teeth occasional (7.5%) HP:0009804
28 short distal phalanx of finger occasional (7.5%) HP:0009882
29 arrhythmia occasional (7.5%) HP:0011675
30 camptodactyly of finger occasional (7.5%) HP:0100490
31 urogenital fistula occasional (7.5%) HP:0100589
32 breast aplasia occasional (7.5%) HP:0100783
33 inguinal hernia HP:0000023
34 shawl scrotum HP:0000049
35 micropenis HP:0000054
36 hypodontia HP:0000668
37 delayed puberty HP:0000823
38 hypoplastic scapulae HP:0000882
39 short clavicles HP:0000894
40 postaxial hand polydactyly HP:0001162
41 obesity HP:0001513
42 subglottic stenosis HP:0001607
43 ventricular septal defect HP:0001629
44 pyloric stenosis HP:0002021
45 anal atresia HP:0002023
46 anal stenosis HP:0002025
47 sparse axillary hair HP:0002215
48 hypoplastic nipples HP:0002557
49 hypoplasia of the radius HP:0002984
50 hypoplasia of the ulna HP:0003022
51 inverted nipples HP:0003186
52 breast hypoplasia HP:0003187
53 absent radius HP:0003974
54 deformed radius HP:0003977
55 absent ulna HP:0003982
56 sparse lateral eyebrow HP:0005338
57 short humerus HP:0005792
58 axillary apocrine gland hypoplasia HP:0007397
59 short 4th toe HP:0008093
60 anterior pituitary hypoplasia HP:0010627
61 ectopic posterior pituitary HP:0011755
62 short 5th toe HP:0011917
63 imperforate hymen HP:0030011

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of TBX3 in Human ES Cell DifferentiationActive, not recruitingNCT00581152

Search NIH Clinical Center for 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 Syndrome25 23 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

34
Breast, Pituitary, Bone

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0TBX1, TBX3, TBX5
2MP:00053828.9TBX1, TBX2, TBX3
3MP:00053818.7TBX1, TBX2, TBX3
4MP:00053808.2TBX1, TBX2, TBX3, TBX5
5MP:00028738.0TBX1, TBX2, TBX3, TBX5
6MP:00053718.0TBX1, TBX2, TBX3, TBX5
7MP:00053857.9TBX1, TBX2, TBX3, TBX5
8MP:00053787.7TBX1, TBX2, TBX3, TBX5

Publications for Ulnar-Mammary Syndrome

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Articles related to Ulnar-Mammary Syndrome:

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

68
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)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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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
18.5TBX1, TBX2, TBX5

GO Terms for genes affiliated with Ulnar-Mammary Syndrome

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:003513610.0TBX3, TBX5
2cardiac muscle cell differentiationGO:00550079.9TBX3, TBX5
3mammary placode formationGO:00605969.8TBX2, TBX3
4embryonic forelimb morphogenesisGO:00351159.8TBX3, TBX5
5outflow tract septum morphogenesisGO:00031489.7TBX1, TBX2
6blood vessel developmentGO:00015689.7TBX1, TBX3
7cellular senescenceGO:00903989.7TBX2, TBX3
8aorta morphogenesisGO:00359099.7TBX1, TBX2
9positive regulation of cardiac muscle cell proliferationGO:00600459.6TBX2, TBX5
10pattern specification processGO:00073899.6TBX1, TBX5
11embryonic heart tube developmentGO:00350509.6TBX2, TBX3
12embryonic digit morphogenesisGO:00427339.6TBX2, TBX3
13heart loopingGO:00019479.4TBX2, TBX3
14cell agingGO:00075699.3TBX2, TBX3
15palate developmentGO:00600219.2TBX2, TBX3
16heart developmentGO:00075079.0TBX1, TBX5
17outflow tract morphogenesisGO:00031519.0TBX1, TBX2, TBX3
18positive regulation of transcription, DNA-templatedGO:00458939.0TBX1, TBX3, TBX5
19heart morphogenesisGO:00030079.0TBX1, TBX2, TBX3
20positive regulation of cell proliferationGO:00082848.6TBX1, TBX2, TBX3

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010789.4TBX2, TBX3
2sequence-specific DNA bindingGO:00435658.0TBX1, TBX2, TBX3, TBX5
3transcription factor activity, sequence-specific DNA bindingGO:00037007.9TBX1, TBX2, TBX3, TBX5

Sources for Ulnar-Mammary Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet