UMS
MCID: ULN003
MIFTS: 48

Ulnar-Mammary Syndrome (UMS) malady

Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases categories

Summaries for Ulnar-Mammary Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and... more...

MalaCards: Ulnar-Mammary Syndrome, also known as ulnar-mammary syndrome of pallister, is related to holt-oram syndrome and dandy-walker like malformation with atrioventricular septal defect, and has symptoms including anus ectopia/anteposition/malposition, camptodactyly of some fingers and terminal/third phalangeal bone of fingers hypoplasia. 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, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

ulnar-mammary syndrome 42 20 22 46 44 48 60
ulnar-mammary syndrome of pallister 42 48
schinzel syndrome 42 48
ums 42 48


External Ids:

OMIM46 181450
MESH via Orphanet35 C536937
ICD10 via Orphanet26 Q71.8
UMLS via Orphanet61 C1866994

Related Diseases for Ulnar-Mammary Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ulnar-Mammary Syndrome:



Diseases related to ulnar-mammary syndrome

Clinical Features for Ulnar-Mammary Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

181450

Clinical synopsis from OMIM:

181450

Symptoms:

48 (show all 38)
  • anus ectopia/anteposition/malposition
  • camptodactyly of some fingers
  • terminal/third phalangeal bone of fingers hypoplasia
  • decreased body hair/axillar/pubic hairlessness
  • gastric/pyloric stenosis
  • anodontia/oligodontia/hypodontia
  • clavicle absent/abnormal
  • postaxial polydactyly (hand)
  • oligodactyly/ectrodactyly of fingers
  • hand agenesis/absence
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • absent pectoral muscles
  • breast tissue/mammary gland absence/aplasia
  • humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • ventricular septal defect/interventricular communication
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • sterility/hypofertility
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • laryngomalacia
  • late puberty/hypogonadism/hypogenitalism
  • short stature/dwarfism/nanism
  • pectus carinatum
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • inguinal/inguinoscrotal/crural hernia
  • autosomal dominant inheritance
  • metacarpal anomalies/archibald's sign
  • wrist/carpal anomalies
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • uterine/uterus/fallopian tubes anomalies
  • micropenis/small penis/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • thin/hypoplastic toenails
  • thin/hypoplastic/hyperconvex fingernails
  • hypoplastic/absent nipples
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • generalized obesity

Drugs & Therapeutics for Ulnar-Mammary Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Ulnar-Mammary Syndrome

Drug clinical trials:

Search ClinicalTrials for Ulnar-Mammary Syndrome

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Search CenterWatch for Ulnar-Mammary Syndrome

Genetic Tests for Ulnar-Mammary Syndrome

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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

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

Animal Models for Ulnar-Mammary Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8TBX1, TBX5, TBX3
2MP:00053828.7TBX2, TBX3, TBX1
3MP:00053818.5TBX2, TBX3, TBX1
4MP:00053718.2TBX1, TBX5, TBX3, TBX2
5MP:00053808.2TBX2, TBX3, TBX5, TBX1
6MP:00028738.1TBX2, TBX3, TBX5, TBX1
7MP:00053858.1TBX1, TBX5, TBX3, TBX2
8MP:00053768.0TBX1, TBX5, TBX3, TBX2
9MP:00107687.7TBX1, TBX5, TBX3, TBX2

Publications for Ulnar-Mammary Syndrome

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Genetic Variations for Ulnar-Mammary Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Ulnar-Mammary Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TBX3p.Leu143ProVAR_009601
2TBX3p.Tyr149SerVAR_009602

Expression for genes affiliated with Ulnar-Mammary Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ulnar-Mammary Syndrome

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

Pathways for genes affiliated with Ulnar-Mammary Syndrome

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37NCBI BioSystems Database
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Pathways related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5TBX1, TBX5, TBX2

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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Sources:
16Gene Ontology
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Cellular components related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.7TBX5, TBX2
2nucleusGO:0056348.0TBX1, TBX5, TBX3, TBX2

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1forelimb morphogenesisGO:0351369.6TBX3, TBX5
2blood vessel developmentGO:0015689.6TBX1, TBX3
3embryonic forelimb morphogenesisGO:0351159.5TBX3, TBX5
4mammary placode formationGO:0605969.4TBX3, TBX2
5regulation of transcription from RNA polymerase II promoterGO:0063579.4TBX1, TBX3
6aorta morphogenesisGO:0359099.4TBX1, TBX2
7outflow tract septum morphogenesisGO:0031489.4TBX2, TBX1
8cellular senescenceGO:0903989.4TBX3, TBX2
9cell agingGO:0075699.4TBX3, TBX2
10pattern specification processGO:0073899.3TBX1, TBX5
11positive regulation of cardiac muscle cell proliferationGO:0600459.3TBX5, TBX2
12embryonic digit morphogenesisGO:0427339.2TBX3, TBX2
13palate developmentGO:0600219.0TBX3, TBX2
14heart developmentGO:0075079.0TBX1, TBX5
15outflow tract morphogenesisGO:0031518.9TBX1, TBX3, TBX2
16positive regulation of transcription, DNA-dependentGO:0458938.9TBX3, TBX5, TBX1
17positive regulation of cell proliferationGO:0082848.8TBX1, TBX3, TBX2

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.5TBX1, TBX5, TBX2
2sequence-specific DNA bindingGO:0435657.9TBX1, TBX5, TBX3, TBX2
3sequence-specific DNA binding transcription factor activityGO:0037007.7TBX2, TBX3, TBX5, TBX1

Products for genes affiliated with Ulnar-Mammary Syndrome

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  • Antibodies
  • Proteins
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet