MCID: ULN003
MIFTS: 46

Ulnar-Mammary Syndrome malady

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

Aliases & Classifications for Ulnar-Mammary Syndrome

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ulnar-Mammary Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
ulnar-mammary syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 181450
Orphanet51 3138
ICD10 via Orphanet28 Q71.8
MESH via Orphanet37 C536937
UMLS via Orphanet66 C1866994
MedGen34 C1866994
UMLS65 C1866994

Summaries for Ulnar-Mammary Syndrome

About this section
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 ritscher-schinzel syndrome 2, and has symptoms including abnormal hair quantity, abnormality of the fingernails and split hand. 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 muscle 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

About this section

Graphical network of diseases related to Ulnar-Mammary Syndrome:



Diseases related to ulnar-mammary syndrome

Symptoms for Ulnar-Mammary Syndrome

About this section

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

Drugs & Therapeutics for Ulnar-Mammary Syndrome

About this section

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

About this section

Genetic tests related to Ulnar-Mammary Syndrome:

id Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome22 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

About this section

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

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

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8TBX1, TBX3, TBX5
2MP:00053818.8TBX1, TBX2, TBX3
3MP:00053828.5TBX1, TBX2, TBX3
4MP:00053808.3TBX1, TBX2, TBX3, TBX5
5MP:00028738.3TBX1, TBX2, TBX3, TBX5
6MP:00053718.3TBX1, TBX2, TBX3, TBX5
7MP:00053858.0TBX1, TBX2, TBX3, TBX5
8MP:00053787.7TBX1, TBX2, TBX3, TBX5

Publications for Ulnar-Mammary Syndrome

About this section

Articles related to Ulnar-Mammary Syndrome:

(show all 31)
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
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. (8923944)
1996
26
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. (8595424)
1995
27
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. (1481852)
1992
28
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. (3621662)
1987
29
Ulnar-mammary syndrome. (3430557)
1987
30
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. (991870)
1976
31

Variations for Ulnar-Mammary Syndrome

About this section

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

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

Pathways for genes affiliated with Ulnar-Mammary Syndrome

About this section

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

About this section

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood vessel developmentGO:00015689.9TBX1, TBX3
2cardiac muscle cell differentiationGO:00550079.8TBX3, TBX5
3forelimb morphogenesisGO:00351369.8TBX3, TBX5
4embryonic digit morphogenesisGO:00427339.6TBX2, TBX3
5mammary placode formationGO:00605969.6TBX2, TBX3
6pattern specification processGO:00073899.6TBX1, TBX5
7heart loopingGO:00019479.6TBX2, TBX3
8cellular senescenceGO:00903989.5TBX2, TBX3
9aorta morphogenesisGO:00359099.5TBX1, TBX2
10positive regulation of cardiac muscle cell proliferationGO:00600459.5TBX2, TBX5
11cell agingGO:00075699.4TBX2, TBX3
12palate developmentGO:00600219.1TBX2, TBX3
13positive regulation of transcription, DNA-templatedGO:00458939.1TBX1, TBX3, TBX5
14negative regulation of transcription, DNA-templatedGO:00458929.0TBX2, TBX3
15positive regulation of cell proliferationGO:00082848.3TBX1, TBX2, TBX3

Sources for Ulnar-Mammary Syndrome

About this section
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