MCID: ULN003
MIFTS: 47

Ulnar-Mammary Syndrome malady

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

Aliases & Classifications for Ulnar-Mammary Syndrome

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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

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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 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 testes, 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

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Graphical network of the top 20 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 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

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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 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

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

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: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

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Articles related to Ulnar-Mammary Syndrome:

(show all 30)
idTitleAuthorsYear
1
The repair of umbilical hernia in cirrhotic patients: 18 consecutive case series in a single institute. (26236698)
2015
2
Cat bite cellulitis. (25210576)
2014
3
CXCR4-related increase of circulating human lymphoid progenitors after allogeneic hematopoietic stem cell transplantation. (24621606)
2014
4
Enteral glutamine infusion modulates ubiquitination of heat shock proteins, Grp-75 and Apg-2, in the human duodenal mucosa. (24449167)
2014
5
Immunohistochemical analysis of neuropeptides (protein gene product 9.5, substance P and calcitonin gene-related peptide) in hypertrophic burn scar with pain and itching. (24908181)
2014
6
Serum amyloid alpha in parapneumonic effusions. (21876610)
2011
7
Human intraocular filariasis caused by Pelecitus sp. nematode, Brazil. (21529397)
2011
8
Pediatric cervical chordoma: report of two cases and a review of the current literature. (20094721)
2010
9
TAF6delta orchestrates an apoptotic transcriptome profile and interacts functionally with p53. (20096117)
2010
10
Conversion disorder in women with the FMR1 premutation. (19842197)
2009
11
A possible role of hepcidin in the pathogenesis of anemia among kidney allograft recipients. (19857675)
2009
12
Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200 complex required for autophagy. (19211835)
2009
13
The Parkinson disease-associated A30P mutation stabilizes alpha-synuclein against proteasomal degradation triggered by heme oxygenase-1 over-expression in human neuroblastoma cells. (19457084)
2009
14
Proteomic analysis of tumor necrosis factor-alpha resistant human breast cancer cells reveals a MEK5/Erk5-mediated epithelial-mesenchymal transition phenotype. (19087274)
2008
15
Phosphoinositide signalling links O-GlcNAc transferase to insulin resistance. (18288188)
2008
16
Gene promoter hypermethylation in tumors and plasma of breast cancer patients. (19956520)
2005
17
Pathophysiology of central sleep apnea syndrome. (10893106)
2000
18
Aberrant mRNAs with extended 3' UTRs are substrates for rapid degradation by mRNA surveillance. (10573121)
1999
19
Heparin blunts endotoxin-induced coagulation activation. (10604885)
1999
20
Relation of Chlamydia pneumoniae serology to mortality and incidence of ischaemic heart disease over 13 years in the caerphilly prospective heart disease study. (10205100)
1999
21
The oligomerization of a family of four genetically clustered human gastrointestinal mucins. (9451015)
1998
22
Elevated plasma levels of interleukin-1 receptor antagonist and interleukin-10 in patients with acute myocardial infarction. (9085939)
1997
23
Individualized repair of the left atrioventricular valve in spectrum of atrioventricular septal defect. (9219472)
1997
24
Comparison of mutation spectra induced by N-ethyl-N-nitrosourea in the hprt gene of Mer+ and Mer- diploid human fibroblasts. (8200099)
1994
25
Malignant glioma-derived soluble factors regulate proliferation of normal adult human astrocytes. (1517771)
1992
26
Asbestosis and cryptogenic fibrosing alveolitis: a radiological and functional comparison. (6597709)
1984
27
Nurses replies to expectations of the nursing profession]. (1040062)
1975
28
New findings in impetigo. (4604816)
1974
29
Treatment of paraquat poisoning by hemodialysis. (4709229)
1973
30

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 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 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

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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