MCID: ULN003
MIFTS: 50

Ulnar-Mammary Syndrome

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

Aliases & Classifications for Ulnar-Mammary Syndrome

MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 53 12 49 55 71 36 28 13 51 41 14 69
Schinzel Syndrome 53 12 72 49 55
Ums 53 49 55 71
Pallister Ulnar-Mammary Syndrome 53 12 55
Ulnar-Mammary Syndrome of Pallister 49

Characteristics:

Orphanet epidemiological data:

55
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ulnar-Mammary Syndrome

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3138Disease definitionUlnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.EpidemiologyThe prevalence is unknown. Approximately 117 cases have been reported in the literature to date.Clinical descriptionUpper limb defects are the most common presenting feature of UMS at birth. The limb phenotype ranges from normal limbs, hypoplasia of the distal phalanges of the little fingers or camptodactyly, to absent digits, absent or hypoplastic ulna and a reduced humerus. Abnormalites may be bilateral, but are frequently asymmetric and lower limb defects have not been reported. The variable mammary and apocrine features of UMS may not be apparent until puberty and include mammary gland tissue hypoplasia (leading to absence of breast development and the inability to lactate), areolar or nipple hypoplasia, inverted nipples and apocrine gland hypoplasia (that can result in diminished perspiration and body odor). Associated absence of axillary hair has also been described. Shared facial features of UMS include a wide face tapering to a prominent chin, a broad nasal tip, and a wide nasal base. Genital defects can include micropenis, shawl scrotum, cryptorchidism and imperforate hymen. Delayed puberty, particularly in males, is noted. Short stature is also common in individuals with UMS and a pituitary endocrine deficiency has been suggested as a possible cause. Abnormalities of the teeth with ectopic, hypoplastic or absent canines have been noted in a number of individuals with UMS. Cardiac defects (ventricular septal defects or conduction abnormalities) have been reported in a few cases.EtiologyUMS is caused by mutations in the TBX3 gene (12q24.21). TBX3 is a member of the T-box gene family. These genes encode transcription factors that have been shown to be important in embryologic development and in the morphogenesis of multiple organ systems.Genetic counselingUMS is an autosomal dominant condition commonly reported in families with inter- and intra-familial variability in expression. Genetic counseling is possible.Visit the Orphanet disease page for more resources. Last updated: 9/3/2015

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ritscher-schinzel syndrome 1 and ritscher-schinzel syndrome 2, and has symptoms including obesity, pectus carinatum and short stature. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box 3), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Heart Development. Affiliated tissues include pituitary, bone and uterus, and related phenotypes are cardiovascular system and embryo

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.

OMIM : 53 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450)

UniProtKB/Swiss-Prot : 71 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia : 72 Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

Related Diseases for Ulnar-Mammary Syndrome

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

Symptoms via clinical synopsis from OMIM:

53
Growth Weight:
obesity

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Abdomen Gastroin testinal:
anal atresia
pyloric stenosis
anal stenosis

Head And Neck Teeth:
hypodontia
ectopic upper canines

Skin Nails Hair Hair:
sparse axillary hair

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Genitourinary Internal Genitalia Female:
imperforate hymen

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Abdomen External Features:
inguinal hernia

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Respiratory Larynx:
subglottic stenosis

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Growth Height:
delayed growth

Chest RibsSternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Skeletal Feet:
short fourth and fifth toes


Clinical features from OMIM:

181450

Human phenotypes related to Ulnar-Mammary Syndrome:

55 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
2 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
3 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
4 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
5 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
6 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
7 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
8 hypoplastic toenails 55 31 occasional (7.5%) Occasional (29-5%) HP:0001800
9 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
10 abnormality of temperature regulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0004370
11 sprengel anomaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000912
12 hernia of the abdominal wall 55 31 occasional (7.5%) Occasional (29-5%) HP:0004299
13 abnormality of the metacarpal bones 55 31 occasional (7.5%) Occasional (29-5%) HP:0001163
14 decreased fertility 55 31 frequent (33%) Frequent (79-30%) HP:0000144
15 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
16 abnormality of the uterus 55 31 frequent (33%) Frequent (79-30%) HP:0000130
17 renal hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000089
18 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 hypoplasia of penis 55 31 frequent (33%) Frequent (79-30%) HP:0008736
20 hypodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000668
21 pyloric stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002021
22 short distal phalanx of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0009882
23 camptodactyly of finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0100490
24 abnormality of the clavicle 55 31 occasional (7.5%) Occasional (29-5%) HP:0000889
25 postaxial hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001162
26 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
27 hypoplastic nipples 55 31 frequent (33%) Frequent (79-30%) HP:0002557
28 absent hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0004050
29 abnormality of the wrist 55 31 frequent (33%) Frequent (79-30%) HP:0003019
30 aplasia of the pectoralis major muscle 55 31 occasional (7.5%) Occasional (29-5%) HP:0009751
31 breast aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100783
32 aplasia/hypoplasia of the ulna 55 31 hallmark (90%) Very frequent (99-80%) HP:0006495
33 abnormality of the radius 55 31 occasional (7.5%) Occasional (29-5%) HP:0002818
34 abnormality of the humerus 55 31 occasional (7.5%) Occasional (29-5%) HP:0003063
35 absent axillary hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002221
36 inguinal hernia 31 HP:0000023
37 inverted nipples 31 HP:0003186
38 abnormality of finger 55 Very frequent (99-80%)
39 sparse lateral eyebrow 31 HP:0005338
40 hypoplasia of the ulna 31 HP:0003022
41 micropenis 31 HP:0000054
42 hypoplasia of the radius 31 HP:0002984
43 shawl scrotum 31 HP:0000049
44 hypoplastic scapulae 31 HP:0000882
45 short clavicles 31 HP:0000894
46 anal stenosis 31 HP:0002025
47 absent radius 31 HP:0003974
48 sparse axillary hair 31 HP:0002215
49 breast hypoplasia 31 HP:0003187
50 short humerus 31 HP:0005792

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.93 TBX1 TBX18 TBX2 TBX3 TBX5 TBX6
2 embryo MP:0005380 9.91 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
3 growth/size/body region MP:0005378 9.87 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
4 craniofacial MP:0005382 9.83 TBX15 TBX18 TBX2 TBX3 TBX1
5 limbs/digits/tail MP:0005371 9.73 TBX1 TBX15 TBX2 TBX3 TBX5 TBX6
6 digestive/alimentary MP:0005381 9.71 TBX1 TBX2 TBX3 TBX6
7 mortality/aging MP:0010768 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
8 muscle MP:0005369 9.35 TBX1 TBX15 TBX18 TBX3 TBX5
9 skeleton MP:0005390 9.1 TBX1 TBX15 TBX18 TBX3 TBX5 TBX6

Drugs & Therapeutics for Ulnar-Mammary Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Genetic Tests for Ulnar-Mammary Syndrome

Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 28 TBX3

Anatomical Context for Ulnar-Mammary Syndrome

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

38
Pituitary, Bone, Uterus

Publications for Ulnar-Mammary Syndrome

Articles related to Ulnar-Mammary Syndrome:

(show all 32)
# Title Authors Year
1
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. ( 28145909 )
2017
2
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. ( 27491074 )
2016
3
Ulnar mammary syndrome. ( 24679913 )
2014
4
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. ( 24675841 )
2014
5
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. ( 25328580 )
2014
6
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome. ( 23844108 )
2013
7
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
8
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
9
The face of Ulnar Mammary syndrome? ( 21199695 )
2011
10
Ulnar Mammary syndrome and TBX3: expanding the phenotype. ( 19938096 )
2009
11
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. ( 17265068 )
2007
12
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
13
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes. ( 16892408 )
2006
14
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. ( 16896345 )
2006
15
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. ( 16059946 )
2005
16
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. ( 16222716 )
2005
17
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
18
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. ( 12668638 )
2003
19
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. ( 11748239 )
2002
20
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. ( 12116211 )
2002
21
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. ( 12668170 )
2002
22
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. ( 12005433 )
2002
23
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. ( 11689487 )
2001
24
The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome. ( 10330342 )
1999
25
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. ( 10468588 )
1999
26
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. ( 9207801 )
1997
27
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. ( 8923944 )
1996
28
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. ( 8595424 )
1995
29
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. ( 1481852 )
1992
30
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. ( 3621662 )
1987
31
Ulnar-mammary syndrome. ( 3430557 )
1987
32
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

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX3 TBX3, 1-BP DEL, 227T deletion Pathogenic
2 TBX3 TBX3, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
3 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh37 Chromosome 12, 115115449: 115115449
4 TBX3 TBX3, 1-BP INS, 88A insertion Pathogenic
5 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh37 Chromosome 12, 115114166: 115114166
6 TBX3 NM_016569.3(TBX3): c.1483C> T (p.Gln495Ter) single nucleotide variant Pathogenic rs1060505020 GRCh37 Chromosome 12, 115112257: 115112257

Expression for Ulnar-Mammary Syndrome

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

Pathways for Ulnar-Mammary Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 TBX1 TBX3 TBX6
2 10.46 TBX1 TBX2 TBX5

GO Terms for Ulnar-Mammary Syndrome

Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.81 TBX1 TBX3 TBX5
2 positive regulation of cell proliferation GO:0008284 9.8 TBX1 TBX2 TBX3
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 TBX15 TBX18 TBX2 TBX3 TBX6
4 regulation of transcription, DNA-templated GO:0006355 9.7 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
5 palate development GO:0060021 9.62 TBX2 TBX3
6 heart looping GO:0001947 9.62 TBX2 TBX3
7 embryonic digit morphogenesis GO:0042733 9.61 TBX2 TBX3
8 negative regulation of nucleic acid-templated transcription GO:1903507 9.61 TBX15 TBX18
9 pattern specification process GO:0007389 9.6 TBX1 TBX5
10 blood vessel development GO:0001568 9.59 TBX1 TBX3
11 mesoderm development GO:0007498 9.58 TBX1 TBX6
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.58 TBX2 TBX5
13 embryonic cranial skeleton morphogenesis GO:0048701 9.57 TBX1 TBX15
14 embryonic forelimb morphogenesis GO:0035115 9.56 TBX3 TBX5
15 cardiac muscle cell differentiation GO:0055007 9.55 TBX3 TBX5
16 cell aging GO:0007569 9.54 TBX2 TBX3
17 outflow tract morphogenesis GO:0003151 9.54 TBX1 TBX2 TBX3
18 outflow tract septum morphogenesis GO:0003148 9.52 TBX1 TBX2
19 cellular senescence GO:0090398 9.51 TBX2 TBX3
20 transcription, DNA-templated GO:0006351 9.5 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
21 embryonic heart tube development GO:0035050 9.49 TBX2 TBX3
22 cell fate specification GO:0001708 9.48 TBX1 TBX6
23 aorta morphogenesis GO:0035909 9.46 TBX1 TBX2
24 forelimb morphogenesis GO:0035136 9.43 TBX3 TBX5
25 heart morphogenesis GO:0003007 9.43 TBX1 TBX2 TBX3
26 mammary placode formation GO:0060596 9.32 TBX2 TBX3
27 multicellular organism development GO:0007275 9.1 TBX1 TBX18 TBX2 TBX3 TBX5 TBX6

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.62 TBX1 TBX2 TBX3 TBX5
2 DNA binding GO:0003677 9.5 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.46 TBX15 TBX18
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 TBX15 TBX2 TBX3 TBX5
5 RNA polymerase II transcription factor binding GO:0001085 9.43 TBX3 TBX6
6 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001078 9.43 TBX15 TBX2 TBX3
7 RNA polymerase II activating transcription factor binding GO:0001102 9.4 TBX3 TBX6
8 RNA polymerase II transcription corepressor activity GO:0001106 9.37 TBX15 TBX18
9 DNA binding transcription factor activity GO:0003700 9.17 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5

Sources for Ulnar-Mammary Syndrome

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