Details of Disease

General Information of Disease (ID: DIS8T08U)

Disease Name Ulnar-mammary syndrome
Synonyms ulnar-mammary syndrome of Pallister; Schinzel Syndrome; ulnar-mammary syndrome; Pallister ulnar-mammary syndrome; ums; Schinzel syndrome
Definition
Ulnar-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.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DIS6SVEE: Syndromic disease
DIS5M94B: Non-syndromic limb reduction defect
DIS8T08U: Ulnar-mammary syndrome
Disease Identifiers
MONDO ID
MONDO_0008411
MESH ID
C536937
UMLS CUI
C1866994
OMIM ID
181450
MedGen ID
357886
Orphanet ID
3138
SNOMED CT ID
700211007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBX3 OTM64N7K Definitive Autosomal dominant [1]
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References

1 Ulnar Mammary syndrome and TBX3: expanding the phenotype. Am J Med Genet A. 2009 Dec;149A(12):2809-12. doi: 10.1002/ajmg.a.33096.