Details of Disease

General Information of Disease (ID: DIS7H4FP)

• Disease Name: Limb-mammary syndrome
• Synonyms: mammary hypoplasia, ectrodactyly, and other hand/foot anomalies; limb-mammary syndrome; LMS
• Definition: Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISLRS4M: Ectodermal dysplasia
  DIS7H4FP: Limb-mammary syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011334
  MESH ID: C535903
  UMLS CUI: C1863753
  OMIM ID: 603543
  MedGen ID: 355051
  Orphanet ID: 69085
  SNOMED CT ID: 721972001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAS6	TT69QD2	Limited	Altered Expression	[1]
HHAT	TT1VNCG	Limited	Biomarker	[2]
MYLK	TT18ETS	Limited	Biomarker	[3]
TYRO3	TTIEMFN	Limited	Altered Expression	[1]
PSMB9	TTOUSTQ	Strong	Genetic Variation	[4]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTG2	OTRDWUO0	Limited	Biomarker	[3]
CARD14	OTADQHOV	Limited	Biomarker	[5]
CASQ2	OT09MNQ8	Limited	Biomarker	[3]
CDSN	OTQW4HV6	Limited	Biomarker	[5]
CFL2	OTE2W0DH	Limited	Altered Expression	[6]
DLX3	OTARP5SQ	Limited	Genetic Variation	[7]
FZD6	OTBCPII8	Limited	Biomarker	[8]
OSTN	OTL4A57N	Limited	Altered Expression	[9]
PEG10	OTWD2278	Limited	Genetic Variation	[10]
PLAGL1	OTZAO900	Limited	Altered Expression	[11]
PSME1	OTDHLJWH	Limited	Genetic Variation	[12]
SLMAP	OTHW3DVC	Limited	Biomarker	[3]
SMTN	OT4R2TYK	Limited	Biomarker	[13]
CALD1	OTNJKJ6Q	moderate	Biomarker	[13]
CKAP4	OTDUC9ME	Strong	Genetic Variation	[14]
MYOCD	OTSJNHTH	Strong	Biomarker	[15]
PTDSS1	OTXLIBD7	Strong	Genetic Variation	[16]
NAA10	OTYB9R6I	Definitive	Genetic Variation	[17]
TP63	OT0WOOKQ	Definitive	Autosomal dominant	[18]

References

• [1] Expression and role of TYRO3 and AXL as potential therapeutical targets in leiomyosarcoma.Br J Cancer. 2017 Dec 5;117(12):1787-1797. doi: 10.1038/bjc.2017.354. Epub 2017 Oct 12.
• [2] Hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) are potential targets in uterine leiomyosarcoma.Int J Oncol. 2010 Sep;37(3):605-14. doi: 10.3892/ijo_00000709.
• [3] Expression of subtype-specific group 1 leiomyosarcoma markers in a wide variety of sarcomas by gene expression analysis and immunohistochemistry.Am J Surg Pathol. 2011 Apr;35(4):583-9. doi: 10.1097/PAS.0b013e318211abd6.
• [4] Molecular Pathology and Novel Clinical Therapy for Uterine Leiomyosarcoma.Anticancer Res. 2016 Oct;36(10):4997-5007. doi: 10.21873/anticanres.11068.
• [5] Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):4314-9. doi: 10.1073/pnas.1525719113. Epub 2016 Apr 4.
• [6] Discovery of molecular subtypes in leiomyosarcoma through integrative molecular profiling.Oncogene. 2010 Feb 11;29(6):845-54. doi: 10.1038/onc.2009.381. Epub 2009 Nov 9.
• [7] Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias.Development. 2007 Jan;134(1):13-8. doi: 10.1242/dev.02703.
• [8] Uterine leiomyosarcoma and endometrial stromal sarcoma have unique miRNA signatures.Gynecol Oncol. 2016 Mar;140(3):512-7. doi: 10.1016/j.ygyno.2016.01.001. Epub 2016 Jan 6.
• [9] Gene expression signatures of primary and metastatic uterine leiomyosarcoma.Hum Pathol. 2014 Apr;45(4):691-700. doi: 10.1016/j.humpath.2013.11.003. Epub 2013 Nov 13.
• [10] Cytogenetic analysis of a leiomyosarcoma of the kidney.Cancer Genet Cytogenet. 1994 Feb;72(2):126-9. doi: 10.1016/0165-4608(94)90127-9.
• [11] Prognostic value of PLAGL1-specific CpG site methylation in soft-tissue sarcomas.PLoS One. 2013 Nov 15;8(11):e80741. doi: 10.1371/journal.pone.0080741. eCollection 2013.
• [12] High-grade sarcoma diagnosis and prognosis: Biomarker discovery by mass spectrometry imaging.Proteomics. 2016 Jun;16(11-12):1802-13. doi: 10.1002/pmic.201500514.
• [13] The Use of Smoothelin and Other Antibodies in the Diagnosis of Uterine and Soft Tissue Smooth Muscle Tumors.Appl Immunohistochem Mol Morphol. 2019 May/Jun;27(5):386-391. doi: 10.1097/PAI.0000000000000619.
• [14] Ectodermal dysplasias: the p63 tail.G Ital Dermatol Venereol. 2013 Feb;148(1):53-8.
• [15] Targeted exome sequencing profiles genetic alterations in leiomyosarcoma.Genes Chromosomes Cancer. 2016 Feb;55(2):124-30. doi: 10.1002/gcc.22318. Epub 2015 Nov 6.
• [16] Lenz-Majewski syndrome in a patient from Egypt.Am J Med Genet A. 2019 Oct;179(10):2039-2042. doi: 10.1002/ajmg.a.61327. Epub 2019 Aug 12.
• [17] A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.
• [18] A new mutation in TP63 is associated with age-related pathology. Eur J Hum Genet. 2007 Nov;15(11):1115-20. doi: 10.1038/sj.ejhg.5201888. Epub 2007 Jul 4.