Details of Disease

General Information of Disease (ID: DISNYKBT)

• Disease Name: Linear skin defects with multiple congenital anomalies 1
• Synonyms: microphthalmia with linear skin defects; microphthalmia, syndromic 7; Midas syndrome; LSDMCA1; microphthalmia, dermal aplasia, and sclerocornea; microphthalmia with linear skin defects syndrome caused by mutation in HCCS; linear skin defects with multiple congenital anomalies 1; linear skin defects with multiple congenital anomalies 1, X-linked dominant; HCCS microphthalmia with linear skin defects syndrome
• Definition: Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene.|Editor note: this is in two OMIMPSs, see notes on parent
• Disease Hierarchy:
  DIS5BT4L: Linear skin defects with multiple congenital anomalies
  DISNYKBT: Linear skin defects with multiple congenital anomalies 1
• Disease Identifiers:
  MONDO ID: MONDO_0024552
  MESH ID: C537466
  UMLS CUI: C0796070
  OMIM ID: 309801
  MedGen ID: 163210
  SNOMED CT ID: 721879006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CD6	TTMF6KC	Strong	Biomarker	[1]
PORCN	TTNFBTO	Strong	Genetic Variation	[2]
PRG4	TTSKF4V	Strong	Altered Expression	[3]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EWSR1	OT7SRHV3	moderate	Genetic Variation	[1]
ARHGAP1	OT0H2ZBZ	Strong	Biomarker	[4]
CLCN4	OT4A2UWF	Strong	Genetic Variation	[5]
COX7B	OT67PIDP	Strong	Genetic Variation	[6]
GOLPH3	OTDLGYM3	Strong	Biomarker	[6]
INTS1	OT7TY1M1	Strong	Genetic Variation	[7]
NDUFB11	OTFG5777	Strong	X-linked dominant	[6]
STARD13	OTB4U1HY	Strong	Biomarker	[4]
HCCS	OTQE88BE	Definitive	X-linked dominant	[8]

References

• [1] Characteristic sequence motifs located at the genomic breakpoints of the translocation t(12;16) and t(12;22) in myxoid liposarcoma.Pathology. 2008 Oct;40(6):547-52. doi: 10.1080/00313020802320424.
• [2] Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.
• [3] PRG4 expression in myxoid liposarcoma maintains tumor cell growth through suppression of an antitumor cytokine IL-24.Biochem Biophys Res Commun. 2017 Mar 25;485(1):209-214. doi: 10.1016/j.bbrc.2017.02.055. Epub 2017 Feb 10.
• [4] Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.Hum Mol Genet. 2000 Mar 1;9(4):477-88. doi: 10.1093/hmg/9.4.477.
• [5] Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).Hum Genet. 1995 May;95(5):594-5. doi: 10.1007/BF00223880.
• [6] Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.
• [7] Translocation t(12;16)(q13;p11) in myxoid liposarcoma of a child and implication of the human int-1 gene in tumorigenesis.Jpn J Cancer Res. 1989 Oct;80(10):958-62. doi: 10.1111/j.1349-7006.1989.tb01633.x.
• [8] Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6.