Details of Disease

General Information of Disease (ID: DIS2BIP8)

• Disease Name: Congenital nervous system disorder
• Synonyms: congenital neurologic anomaly; congenital nervous system disorder; congenital abnormality of the nervous system
• Definition: An abnormality of the nervous system that is present at birth or detected in the neonatal period.
• Disease Hierarchy:
  DISCFBRD: Neurological disorder
  DISH7H5I: Human disease
  DIS2BIP8: Congenital nervous system disorder
• Disease Identifiers:
  MONDO ID: MONDO_0002320
  MESH ID: D009421
  UMLS CUI: C0497552
  MedGen ID: 105425
  HPO ID: HP:0000707
  SNOMED CT ID: 88425004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UNC13A	OTSFM4X5	Limited	Unknown	[1]
PGAP3	OTH9A75E	Limited	Genetic Variation	[9]
SPRED1	OTKX7P8G	Limited	Biomarker	[10]
ACTB	OT1MCP2F	Strong	Biomarker	[3]
ALX3	OTXZ25PZ	Strong	Biomarker	[11]
AMN	OTS1TJXG	Strong	Biomarker	[7]
CEP83	OTNJGQ11	Strong	Genetic Variation	[12]
CHRNG	OTXC2UR7	Strong	Genetic Variation	[13]
ECM1	OT1K65VW	Strong	Genetic Variation	[14]
FGD1	OTV3T64P	Strong	Biomarker	[15]
FKRP	OTMUZ7GH	Strong	Genetic Variation	[16]
HOXA1	OTMSOJ7D	Strong	Biomarker	[17]
HOXB1	OTGC0EKI	Strong	Biomarker	[17]
L2HGDH	OTW6C712	Strong	Biomarker	[18]
NFIA	OTDHQ9CG	Strong	Biomarker	[19]
NPHP3	OT8U8ELA	Strong	Genetic Variation	[20]
PAX3	OTN5PJZV	Strong	Biomarker	[21]
PAX6	OTOC9876	Strong	Biomarker	[22]
PHYH	OTUG4BWA	Strong	Genetic Variation	[23]
RAB3GAP2	OTQTE0GI	Strong	Genetic Variation	[24]
RPS27	OTFXKY7P	Strong	Biomarker	[25]
SACS	OTZGXQ8A	Strong	Biomarker	[26]
TP73	OT0LUO47	Strong	Biomarker	[27]

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GALC	TT5IZRB	Limited	Genetic Variation	[2]
ACTG1	TTGAZF9	Strong	Biomarker	[3]
AGPAT1	TTPL1TK	Strong	Biomarker	[4]
CASP6	TTKW4ML	Strong	Genetic Variation	[5]
CRBN	TTDKGTC	Strong	Biomarker	[6]
CUBN	TT9YLCR	Strong	Biomarker	[7]
HTT	TTIWZ0O	Strong	Genetic Variation	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	DTQ8MP1	Strong	Genetic Variation	[8]

References

• [1] Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder. J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13.
• [2] A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Neurol Sci. 2018 Dec;39(12):2123-2128. doi: 10.1007/s10072-018-3556-2. Epub 2018 Sep 12.
• [3] De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
• [4] Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.Endocrinology. 2017 Nov 1;158(11):3954-3973. doi: 10.1210/en.2017-00511.
• [5] Transgenic mice expressing caspase-6-derived N-terminal fragments of mutant huntingtin develop neurologic abnormalities with predominant cytoplasmic inclusion pathology composed largely of a smaller proteolytic derivative.Hum Mol Genet. 2011 Jul 15;20(14):2770-82. doi: 10.1093/hmg/ddr176. Epub 2011 Apr 22.
• [6] Genomic and in silico analyses of CRBN gene and thalidomide embryopathy in humans. Reprod Toxicol. 2016 Dec;66:99-106. doi: 10.1016/j.reprotox.2016.10.003. Epub 2016 Oct 14.
• [7] Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.Curr Pharm Des. 2007;13(29):3038-46. doi: 10.2174/138161207782110507.
• [8] Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities.Arq Bras Endocrinol Metabol. 2011 Feb;55(1):60-6. doi: 10.1590/s0004-27302011000100008.
• [9] Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.Eur J Med Genet. 2019 Jun;62(6):103535. doi: 10.1016/j.ejmg.2018.09.002. Epub 2018 Sep 11.
• [10] Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6. doi: 10.1038/ng2113. Epub 2007 Aug 19.
• [11] Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.Am J Med Genet A. 2009 May;149A(5):1006-11. doi: 10.1002/ajmg.a.32717.
• [12] Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29.
• [13] CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 2012 Jan;49(1):21-6. doi: 10.1136/jmedgenet-2011-100378.
• [14] Lipoid proteinosis.Handb Clin Neurol. 2015;132:317-22. doi: 10.1016/B978-0-444-62702-5.00023-8.
• [15] Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.Eur J Hum Genet. 2000 Nov;8(11):869-74. doi: 10.1038/sj.ejhg.5200553.
• [16] New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.Neurogenetics. 2004 Feb;5(1):27-34. doi: 10.1007/s10048-003-0165-9. Epub 2003 Dec 2.
• [17] Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development.Development. 1999 Nov;126(22):5027-40. doi: 10.1242/dev.126.22.5027.
• [18] L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22.
• [19] A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.Eur J Pediatr. 2010 Apr;169(4):463-8. doi: 10.1007/s00431-009-1057-2. Epub 2009 Sep 8.
• [20] Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.Am J Med Genet A. 2013 Jul;161A(7):1743-9. doi: 10.1002/ajmg.a.35958. Epub 2013 May 17.
• [21] A transgenic neuroanatomical marker identifies cranial neural crest deficiencies associated with the Pax3 mutant Splotch.Dev Biol. 1995 Oct;171(2):317-29. doi: 10.1006/dbio.1995.1284.
• [22] In vivo MRI of altered brain anatomy and fiber connectivity in adult pax6 deficient mice.Cereb Cortex. 2009 Dec;19(12):2838-47. doi: 10.1093/cercor/bhp057. Epub 2009 Mar 27.
• [23] Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.Neurol Sci. 2008 Jun;29(3):173-5. doi: 10.1007/s10072-008-0931-4. Epub 2008 Jul 9.
• [24] Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?. Ophthalmic Genet. 2018 Jun;39(3):391-395. doi: 10.1080/13816810.2018.1432065. Epub 2018 Feb 8.
• [25] Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.Mol Ther. 2004 Jun;9(6):866-75. doi: 10.1016/j.ymthe.2004.03.011.
• [26] Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.AJNR Am J Neuroradiol. 2013 Oct;34(10):1952-7. doi: 10.3174/ajnr.A3488. Epub 2013 Apr 18.
• [27] TAp73 knockout mice show morphological and functional nervous system defects associated with loss of p75 neurotrophin receptor. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):18952-7. doi: 10.1073/pnas.1221172110. Epub 2013 Nov 4.