microcephaly

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Information
Disease name
microcephaly
Disease ID
DOID:10907
Description
"A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants." [url:https\://en.wikipedia.org/wiki/Microcephaly]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
PGAP1 2 196,833,004 196,926,707 4
STARD9 15 42,575,606 42,720,998 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03548779 Active, not recruiting N/A North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 September 28, 2018 September 8, 2024
NCT01565005 Completed Microcephaly Genetic Deficiency in Neural Progenitors October 2013 December 2017
NCT02510170 Completed Fetal and Maternal Head Circumference During Pregnancy in Israeli Population September 2015 July 2016
NCT02741882 Completed Zika and Microcephaly: Case-control Study February 2016 February 2017
NCT02943304 Completed Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero May 1, 2016 December 20, 2022
NCT00001639 Completed Evaluation of Patients With Unresolved Chromosome Abnormalities December 1996 October 2000
NCT03330600 Completed N/A Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome June 1, 2017 October 30, 2018
NCT04816175 Completed N/A Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay April 30, 2019 August 11, 2022
NCT05322980 Completed Summary of Infants Weighing 500 Grams or Less April 5, 2022 December 31, 2022
NCT05518188 Recruiting Phase 1/Phase 2 Melpida: Recombinant Adeno-associated Virus (Serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt) February 15, 2023 October 1, 2030
NCT03651687 Recruiting Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM) February 10, 2017 December 31, 2024
NCT03325946 Recruiting The FBRI VTC Neuromotor Research Clinic January 1, 2013 December 31, 2027
NCT06019182 Recruiting MEHMO Natural History and Biomarkers June 23, 2024 September 1, 2053
NCT03922594 Terminated Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia May 20, 2019 August 31, 2021
NCT03255369 Unknown status Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF) January 2, 2016 December 30, 2019
NCT01151462 Withdrawn Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes. August 2010 May 2013
Disase is a (Disease Ontology)
DOID:2490
Cross Reference ID (Disease Ontology)
GARD:3603
Cross Reference ID (Disease Ontology)
GARD:7038
Cross Reference ID (Disease Ontology)
ICD10CM:Q02
Cross Reference ID (Disease Ontology)
ICD9CM:742.1
Cross Reference ID (Disease Ontology)
MESH:D008831
Cross Reference ID (Disease Ontology)
NCI:C85874
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:156893009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0025958
Exact Synonym (Disease Ontology)
Microcephalus
Exact Synonym (Disease Ontology)
microencephaly
HPO alt_id (Human Phenotype Ontology)
HP:0001366
HPO alt_id (Human Phenotype Ontology)
HP:0005485
HPO alt_id (Human Phenotype Ontology)
HP:0005489
HPO alt_id (Human Phenotype Ontology)
HP:0005497
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000252
ICD10 preferred id (Insert disease from ICD10)
D0013530
ICD10 class code (Insert disease from ICD10)
Q02
MeSH unique ID (MeSH (Medical Subject Headings))
D008831