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:
11Disease Ontology, 12diseasecard, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 51 11 47 24 53 69 26 12 49 38 67
Schinzel Syndrome 11 47 24 53
Ums 47 53 69
 
Pallister Ulnar-Mammary Syndrome 11 53
Ulnar-Mammary Syndrome of Pallister 47

Characteristics:

Orphanet epidemiological data:

53
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
ulnar-mammary syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 181450
Disease Ontology11 DOID:0060614
ICD1029 Q71.8
MeSH38 C536937
Orphanet53 ORPHA3138
MESH via Orphanet39 C536937
UMLS via Orphanet68 C1866994
ICD10 via Orphanet30 Q71.8
MedGen36 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 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 pituitary and bone, and related mouse phenotypes are muscle and craniofacial.

OMIM:51 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or... (181450) more...

UniProtKB/Swiss-Prot:69 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia:70 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

Human phenotypes related to Ulnar-Mammary Syndrome:

 63 (show all 59)
id Description HPO Frequency HPO Source Accession
1 hypohidrosis63 hallmark (90%) HP:0000966
2 split hand63 hallmark (90%) HP:0001171
3 abnormality of the fingernails63 hallmark (90%) HP:0001231
4 abnormal hair quantity63 hallmark (90%) HP:0011362
5 abnormality of female internal genitalia63 typical (50%) HP:0000008
6 cryptorchidism63 typical (50%) HP:0000028
7 decreased fertility63 typical (50%) HP:0000144
8 obesity63 typical (50%) HP:0001513
9 abnormality of the wrist63 typical (50%) HP:0003019
10 short stature63 typical (50%) HP:0004322
11 aplasia/hypoplasia of the nipples63 typical (50%) HP:0006709
12 hypoplasia of penis63 typical (50%) HP:0008736
13 pectus carinatum63 occasional (7.5%) HP:0000768
14 sprengel anomaly63 occasional (7.5%) HP:0000912
15 postaxial hand polydactyly63 occasional (7.5%) HP:0001162
16 abnormality of the metacarpal bones63 occasional (7.5%) HP:0001163
17 laryngomalacia63 occasional (7.5%) HP:0001601
18 ventricular septal defect63 occasional (7.5%) HP:0001629
19 hypoplastic toenails63 occasional (7.5%) HP:0001800
20 pyloric stenosis63 occasional (7.5%) HP:0002021
21 abnormality of the humerus63 occasional (7.5%) HP:0003063
22 absent hand63 occasional (7.5%) HP:0004050
23 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
24 ectopic anus63 occasional (7.5%) HP:0004397
25 renal hypoplasia/aplasia63 occasional (7.5%) HP:0008678
26 aplasia of the pectoralis major muscle63 occasional (7.5%) HP:0009751
27 reduced number of teeth63 occasional (7.5%) HP:0009804
28 short distal phalanx of finger63 occasional (7.5%) HP:0009882
29 arrhythmia63 occasional (7.5%) HP:0011675
30 camptodactyly of finger63 occasional (7.5%) HP:0100490
31 urogenital fistula63 occasional (7.5%) HP:0100589
32 breast aplasia63 occasional (7.5%) HP:0100783
33 inguinal hernia63 HP:0000023
34 shawl scrotum63 HP:0000049
35 micropenis63 HP:0000054
36 hypodontia63 HP:0000668
37 delayed puberty63 HP:0000823
38 hypoplastic scapulae63 HP:0000882
39 short clavicles63 HP:0000894
40 subglottic stenosis63 HP:0001607
41 anal atresia63 HP:0002023
42 anal stenosis63 HP:0002025
43 sparse axillary hair63 HP:0002215
44 hypoplastic nipples63 HP:0002557
45 hypoplasia of the radius63 HP:0002984
46 hypoplasia of the ulna63 HP:0003022
47 inverted nipples63 HP:0003186
48 breast hypoplasia63 HP:0003187
49 absent radius63 HP:0003974
50 deformed radius63 HP:0003977
51 absent ulna63 HP:0003982
52 sparse lateral eyebrow63 HP:0005338
53 short humerus63 HP:0005792
54 axillary apocrine gland hypoplasia63 HP:0007397
55 short 4th toe63 HP:0008093
56 anterior pituitary hypoplasia63 HP:0010627
57 ectopic posterior pituitary63 HP:0011755
58 short 5th toe63 HP:0011917
59 imperforate hymen63 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 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 Syndrome26 24 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

35
Pituitary, Bone

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.5TBX1, TBX3, TBX5
2MP:00053829.4TBX1, TBX2, TBX3
3MP:00053819.4TBX1, TBX2, TBX3
4MP:00053858.8TBX1, TBX2, TBX3, TBX5
5MP:00053808.8TBX1, TBX2, TBX3, TBX5
6MP:00053788.8TBX1, TBX2, TBX3, TBX5
7MP:00053718.8TBX1, TBX2, TBX3, TBX5
8MP:00028738.0TBX1, 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:

69
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
2TBX3TBX3, 1-BP DEL, 227TdeletionPathogenicChr na, -1: -1
3TBX3TBX3, IVS2DS, G-C, +1SNVPathogenicChr na, -1: -1
4TBX3NM_016569.3(TBX3): c.877A> T (p.Lys293Ter)SNVPathogenicrs104894376GRCh37Chr 12, 115115449: 115115449
5TBX3TBX3, 1-BP INS, 88AinsertionPathogenicChr na, -1: -1

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
4blood vessel developmentGO:00015689.8TBX1, TBX3
5embryonic forelimb morphogenesisGO:00351159.7TBX3, TBX5
6outflow tract septum morphogenesisGO:00031489.7TBX1, TBX2
7pattern specification processGO:00073899.7TBX1, TBX5
8aorta morphogenesisGO:00359099.7TBX1, TBX2
9cellular senescenceGO:00903989.7TBX2, TBX3
10positive regulation of cardiac muscle cell proliferationGO:00600459.6TBX2, TBX5
11embryonic heart tube developmentGO:00350509.5TBX2, TBX3
12embryonic digit morphogenesisGO:00427339.5TBX2, TBX3
13cell agingGO:00075699.5TBX2, TBX3
14palate developmentGO:00600219.4TBX2, TBX3
15heart loopingGO:00019479.4TBX2, TBX3
16heart developmentGO:00075079.2TBX1, TBX5
17positive regulation of transcription, DNA-templatedGO:00458939.0TBX1, TBX3, TBX5
18outflow tract morphogenesisGO:00031519.0TBX1, TBX2, TBX3
19heart morphogenesisGO:00030078.8TBX1, 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:00010789.5TBX2, TBX3
2sequence-specific DNA bindingGO:00435658.0TBX1, TBX2, TBX3, TBX5
3transcription factor activity, sequence-specific DNA bindingGO:00037007.7TBX1, TBX2, TBX3, TBX5

Sources for Ulnar-Mammary Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet