MCID: ULN003
MIFTS: 49

Ulnar-Mammary Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Ulnar-Mammary Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 49 11 45 22 47 51 24 65 67
Schinzel Syndrome 45 22 51
 
Ums 45 51 67
Ulnar-Mammary Syndrome of Pallister 45 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
ulnar-mammary syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 181450
Orphanet51 3138
ICD10 via Orphanet28 Q71.8
MESH via Orphanet37 C536937
UMLS via Orphanet66 C1866994
MedGen34 C1866994

Summaries for Ulnar-Mammary Syndrome

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OMIM:49 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 acrocallosal syndrome, 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, bone and pituitary, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:67 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia:68 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

Symptoms:

 51 (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 64)
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 autosomal dominant inheritance HP:0000006
34 inguinal hernia HP:0000023
35 shawl scrotum HP:0000049
36 micropenis HP:0000054
37 hypodontia HP:0000668
38 delayed puberty HP:0000823
39 hypoplastic scapulae HP:0000882
40 short clavicles HP:0000894
41 postaxial hand polydactyly HP:0001162
42 obesity HP:0001513
43 subglottic stenosis HP:0001607
44 ventricular septal defect HP:0001629
45 pyloric stenosis HP:0002021
46 anal atresia HP:0002023
47 anal stenosis HP:0002025
48 sparse axillary hair HP:0002215
49 hypoplastic nipples HP:0002557
50 hypoplasia of the radius HP:0002984
51 hypoplasia of the ulna HP:0003022
52 inverted nipples HP:0003186
53 breast hypoplasia HP:0003187
54 absent radius HP:0003974
55 deformed radius HP:0003977
56 absent ulna HP:0003982
57 sparse lateral eyebrow HP:0005338
58 short humerus HP:0005792
59 axillary apocrine gland hypoplasia HP:0007397
60 short 4th toe HP:0008093
61 anterior pituitary hypoplasia HP:0010627
62 ectopic posterior pituitary HP:0011755
63 short 5th toe HP:0011917
64 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 Syndrome22 24 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

33
Breast, Bone, Pituitary, Testes, Uterus, Heart, Kidney

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9TBX1, TBX2, TBX3
2MP:00053818.8TBX1, TBX2, TBX3
3MP:00053698.6TBX1, TBX3, TBX5
4MP:00028738.3TBX1, TBX2, TBX3, TBX5
5MP:00053718.3TBX1, TBX2, TBX3, TBX5
6MP:00053808.0TBX1, TBX2, TBX3, TBX5
7MP:00053768.0TBX1, TBX2, TBX3, TBX5
8MP:00053857.9TBX1, TBX2, TBX3, TBX5

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
The face of Ulnar Mammary syndrome? (21199695)
2011
8
Ulnar Mammary syndrome and TBX3: expanding the phenotype. (19938096)
2009
9
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. (17265068)
2007
10
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
2006
11
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
12
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. (16892408)
2006
13
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. (16222716)
2005
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
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. (16059946)
2005
16
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. (12668638)
2003
17
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. (12668170)
2002
18
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. (12116211)
2002
19
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. (11748239)
2002
20
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. (12005433)
2002
21
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. (11689487)
2001
22
The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. (10330342)
1999
23
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. (10468588)
1999
24
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. (9207801)
1997
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:

67
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 pathways (with members indented)ScoreTop 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 22)
idNameGO IDScoreTop Affiliating Genes
1mammary placode formationGO:006059610.1TBX2, TBX3
2embryonic heart tube developmentGO:003505010.1TBX2, TBX3
3cell agingGO:000756910.0TBX2, TBX3
4forelimb morphogenesisGO:003513610.0TBX3, TBX5
5positive regulation of cardiac muscle cell proliferationGO:006004510.0TBX2, TBX5
6heart loopingGO:000194710.0TBX2, TBX3
7embryonic forelimb morphogenesisGO:00351159.9TBX3, TBX5
8cellular senescenceGO:00903989.9TBX2, TBX3
9embryonic digit morphogenesisGO:00427339.9TBX2, TBX3
10cardiac muscle cell differentiationGO:00550079.9TBX3, TBX5
11aorta morphogenesisGO:00359099.8TBX1, TBX2
12outflow tract septum morphogenesisGO:00031489.8TBX1, TBX2
13positive regulation of secondary heart field cardioblast proliferationGO:00725139.7TBX1, TBX5
14pattern specification processGO:00073899.5TBX1, TBX5
15palate developmentGO:00600219.5TBX2, TBX3
16blood vessel developmentGO:00015689.1TBX1, TBX3
17heart developmentGO:00075078.9TBX1, TBX5
18outflow tract morphogenesisGO:00031518.9TBX1, TBX2, TBX3
19positive regulation of cell proliferationGO:00082848.8TBX1, TBX2, TBX3
20positive regulation of transcription, DNA-templatedGO:00458938.8TBX1, TBX3, TBX5
21heart morphogenesisGO:00030078.7TBX1, TBX2, TBX3
22regulation of transcription, DNA-templatedGO:00063558.0TBX1, TBX2, TBX3, TBX5

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:00010789.8TBX2, TBX3
2sequence-specific DNA bindingGO:00435658.0TBX1, TBX2, TBX3, TBX5
3DNA bindingGO:00036777.9TBX1, TBX2, TBX3, TBX5
4transcription factor activity, sequence-specific DNA bindingGO:00037007.7TBX1, TBX2, TBX3, TBX5

Sources for Ulnar-Mammary Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet