Details of Disease

General Information of Disease (ID: DIS0KTGM)

• Disease Name: Melnick-Needles syndrome
• Synonyms: MELNICK-NEEDLES syndrome; osteodysplasty of Melnick and Needles; MNS; Melnick-Needles syndrome; Melnick-Needles osteodysplasty; Melnick Needles Syndrome; Melnick-Needles syndrome, X-linked dominant
• Definition: A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISAUHL1: Otopalatodigital syndrome spectrum disorder
  DIS0KTGM: Melnick-Needles syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010650
  MESH ID: D010009
  UMLS CUI: C0025237
  OMIM ID: 309350
  MedGen ID: 6292
  Orphanet ID: 2484
  SNOMED CT ID: 13449007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DLL3	TT1C9K6	Limited	Biomarker	[1]
FLT1	TT1VAUK	Limited	Biomarker	[2]
GLB1	TTNGJPH	Limited	Biomarker	[3]
KDR	TTUTJGQ	Limited	Biomarker	[2]
TRPV4	TTKP2SU	Disputed	Biomarker	[4]
FLNA	TTSTRZY	Strong	Genetic Variation	[5]
HSPG2	TT5UM29	Strong	Biomarker	[6]
FLNA	TTSTRZY	Definitive	X-linked dominant	[7]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Biomarker	[8]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Limited	Biomarker	[9]
COL2A1	OT5E59C8	Limited	Biomarker	[10]
ADAMTSL2	OTAXNV2U	Strong	Biomarker	[11]
COL9A1	OTWBR27Y	Strong	Biomarker	[12]
GYPA	OTABU4YV	Strong	Biomarker	[13]
GYPB	OTESHUIX	Strong	Biomarker	[13]
GYPE	OTBHAG6A	Strong	Biomarker	[13]
FLNA	OTYZ9JXM	Definitive	X-linked dominant	[7]

References

• [1] Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:5<482::aid-ajmg14>3.0.co;2-x.
• [2] Thiram-induced changes in the expression of genes relating to vascularization and tibial dyschondroplasia.Poult Sci. 2007 Nov;86(11):2390-5. doi: 10.3382/ps.2007-00219.
• [3] Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency.Clin Genet. 1976 May;9(5):495-504. doi: 10.1111/j.1399-0004.1976.tb01603.x.
• [4] Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.
• [5] A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.Am J Med Genet A. 2018 Apr;176(4):980-984. doi: 10.1002/ajmg.a.38651.
• [6] Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. Nat Genet. 2001 Apr;27(4):431-4. doi: 10.1038/86941.
• [7] Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3.
• [8] Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.Medicine (Baltimore). 2018 Sep;97(36):e12214. doi: 10.1097/MD.0000000000012214.
• [9] Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity.Matrix Biol. 2009 Oct;28(8):490-502. doi: 10.1016/j.matbio.2009.07.004. Epub 2009 Jul 26.
• [10] A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.Genomics. 1993 Apr;16(1):282-5. doi: 10.1006/geno.1993.1179.
• [11] ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199.
• [12] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26.
• [13] Frequency of Red Blood Cell Antigens According to Parent Ethnicity in Korea Using Molecular Typing.Ann Lab Med. 2018 Nov;38(6):599-603. doi: 10.3343/alm.2018.38.6.599.