UMS
MCID: ULN003
MIFTS: 52

Ulnar-Mammary Syndrome (UMS) malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Ulnar-Mammary Syndrome

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Wikipedia:65 Ulnar?mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

MalaCards based summary: 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 ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray, oligodactyly/ectrodactyly of fingers and hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance. 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, bone and testes, and related mouse phenotypes are skeleton and craniofacial.

Description from OMIM:46 181450

Aliases & Classifications for Ulnar-Mammary Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Ulnar-Mammary Syndrome, Aliases & Descriptions:

Name: Ulnar-Mammary Syndrome 42 20 22 46 44 48 62
Ulnar-Mammary Syndrome of Pallister 42 48 62
 
Schinzel Syndrome 42 48
Ums 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 181450
MESH via Orphanet35 C536937
ICD10 via Orphanet26 Q71.8
UMLS via Orphanet63 C1866994

Related Diseases for Ulnar-Mammary Syndrome

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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 defect10.5
2acrocallosal syndrome10.2
3adult syndrome10.2
4mental retardation10.2
5split hand10.2
6congenital heart disease10.0TBX5, TBX1
7holt-oram syndrome9.7TBX5, TBX3, TBX1
8velocardiofacial syndrome9.6TBX1, TBX3, TBX5

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

Symptoms:

48 (show all 38)
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • oligodactyly/ectrodactyly of fingers
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • decreased body hair/axillar/pubic hairlessness
  • thin/hypoplastic/hyperconvex fingernails
  • autosomal dominant inheritance
  • hypoplastic/absent nipples
  • wrist/carpal anomalies
  • uterine/uterus/fallopian tubes anomalies
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • sterility/hypofertility
  • late puberty/hypogonadism/hypogenitalism
  • generalized obesity
  • short stature/dwarfism/nanism
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • clavicle absent/abnormal
  • breast tissue/mammary gland absence/aplasia
  • absent pectoral muscles
  • pectus carinatum
  • inguinal/inguinoscrotal/crural hernia
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • hand agenesis/absence
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia
  • postaxial polydactyly (hand)
  • camptodactyly of some fingers
  • 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

HPO human phenotypes related to Ulnar-Mammary Syndrome:

(show all 67)
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 abnormality of the ulna hallmark (90%) HP:0002997
5 abnormal hair quantity hallmark (90%) HP:0011362
6 abnormality of female internal genitalia typical (50%) HP:0000008
7 cryptorchidism typical (50%) HP:0000028
8 decreased fertility typical (50%) HP:0000144
9 obesity typical (50%) HP:0001513
10 abnormality of the wrist typical (50%) HP:0003019
11 short stature typical (50%) HP:0004322
12 aplasia/hypoplasia of the nipples typical (50%) HP:0006709
13 hypoplasia of penis typical (50%) HP:0008736
14 pectus carinatum occasional (7.5%) HP:0000768
15 abnormality of the clavicles occasional (7.5%) HP:0000889
16 sprengel anomaly occasional (7.5%) HP:0000912
17 postaxial hand polydactyly occasional (7.5%) HP:0001162
18 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
19 laryngomalacia occasional (7.5%) HP:0001601
20 ventricular septal defect occasional (7.5%) HP:0001629
21 hypoplastic toenails occasional (7.5%) HP:0001800
22 pyloric stenosis occasional (7.5%) HP:0002021
23 abnormality of the humerus occasional (7.5%) HP:0003063
24 absent hand occasional (7.5%) HP:0004050
25 hernia of the abdominal wall occasional (7.5%) HP:0004299
26 ectopic anus occasional (7.5%) HP:0004397
27 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
28 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
29 aplasia of the pectoralis major muscle occasional (7.5%) HP:0009751
30 reduced number of teeth occasional (7.5%) HP:0009804
31 short distal phalanx of finger occasional (7.5%) HP:0009882
32 arrhythmia occasional (7.5%) HP:0011675
33 camptodactyly of finger occasional (7.5%) HP:0100490
34 urogenital fistula occasional (7.5%) HP:0100589
35 breast aplasia occasional (7.5%) HP:0100783
36 autosomal dominant inheritance HP:0000006
37 inguinal hernia HP:0000023
38 shawl scrotum HP:0000049
39 micropenis HP:0000054
40 hypodontia HP:0000668
41 delayed puberty HP:0000823
42 hypoplastic scapulae HP:0000882
43 short clavicles HP:0000894
44 postaxial hand polydactyly HP:0001162
45 obesity HP:0001513
46 subglottic stenosis HP:0001607
47 ventricular septal defect HP:0001629
48 pyloric stenosis HP:0002021
49 anal atresia HP:0002023
50 anal stenosis HP:0002025
51 sparse axillary hair HP:0002215
52 hypoplastic nipples HP:0002557
53 hypoplasia of the radius HP:0002984
54 hypoplasia of the ulna HP:0003022
55 inverted nipples HP:0003186
56 breast hypoplasia HP:0003187
57 absent radius HP:0003974
58 deformed radius HP:0003977
59 absent ulna HP:0003982
60 sparse lateral eyebrow HP:0005338
61 short humerus HP:0005792
62 axillary apocrine gland hypoplasia HP:0007397
63 short 4th toe HP:0008093
64 anterior pituitary hypoplasia HP:0010627
65 ectopic posterior pituitary HP:0011755
66 short 5th toe HP:0011917
67 imperforate hymen HP:0030011

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Drug clinical trials:

Search ClinicalTrials for Ulnar-Mammary Syndrome

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 Syndrome20 22 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

32
Breast, Bone, Testes, Heart, Kidney, Uterus

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

36
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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Articles related to Ulnar-Mammary Syndrome:

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

64
id Symbol AA change Variation ID SNP ID
1TBX3p.Leu143ProVAR_009601
2TBX3p.Tyr149SerVAR_009602

Clinvar genetic disease variations for Ulnar-Mammary Syndrome:

6
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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Expression patterns in normal tissues for genes affiliated with Ulnar-Mammary Syndrome

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Pathways for genes affiliated with Ulnar-Mammary Syndrome

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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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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:0036778.5TBX1, TBX2, TBX5
2sequence-specific DNA bindingGO:0435657.9TBX1, TBX2, TBX3, TBX5
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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet