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Autosomal Recessive Primary Microcephaly 4

MCPH


Presentation

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.[genecards.org]
  • The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature.[ghr.nlm.nih.gov]
Pathologist
  • All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.[books.google.com]
Rigor
  • By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs.[books.google.com]
Intestinal Atresia
  • Genet. (1994) [ Pubmed ] MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. van Bokhoven, H., Celli, J., van Reeuwijk, J., Rinne, T., Glaudemans, B., van Beusekom, E., Rieu, P., Newbury-Ecob, R.A[wikigenes.org]

Workup

Lymphocytopenia
  • Here we describe five patients with growth retardation, microcephaly, and immunodeficiency characterized by a profound T B lymphocytopenia [10].[wikigenes.org]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • TREATMENT OPTIONS There is no treatment for microcephaly that can return a child's head to a normal size or shape. Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities.[bio116su12.pbworks.com]
  • Management and treatment There is no specific etiologic treatment. Physical and speech therapy may be beneficial. Seizures are usually stabilized with common anticonvulsants. Ritalin may reduce hyperactivity.[orpha.net]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]

Prognosis

  • Prognosis Vital prognosis depends on severity and related manifestations but is generally good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • PMID 15355437 ASPM is a novel marker for vascular invasion, early recurrence, and poor prognosis of hepatocellular carcinoma. Lin SY, Pan HW, Liu SH, Jeng YM, Hu FC, Peng SY, Lai PL, Hsu HC. Clin Cancer Res. 2008 Aug 1;14(15):4814-20.[atlasgeneticsoncology.org]
  • […] head circumference more than three standard deviations below the mean for the age and sex. [6] There is no specific treatment that returns the head size to normal. [1] In general, life expectancy for individuals with microcephaly is reduced and the prognosis[en.wikipedia.org]

Etiology

  • […] microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology[diseaseinfosearch.org]
  • MCPH is genetically heterogeneous, and 16 loci are known to be associated with loss-of-function mutations predominantly affecting centrosomal-associated proteins, but the multiple roles of centrosomes in cellular function has left questions about etiology[experts.umich.edu]
  • Etiology Ten subtypes based on the 11 genes have been differentiated. However, patients are basically phenotypically indistinguishable.[orpha.net]
  • Moreover, the results of this study may shed light on mechanisms relevant to the etiology of many neurological and psychiatric disorders related to cortical function.[grantome.com]
  • , hearing loss and in 85% of cases early death, among other findings. es Declaración relativa a la Carta de los Derechos Fundamentales de la Unión Europea en Huntington disease (HD) is an autosomal dominant, neurodegenerative disorder with a primary etiology[es.glosbe.com]

Epidemiology

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Relevant External Links for MCPH1 Genetic Association Database (GAD) MCPH1 Human Genome Epidemiology (HuGE) Navigator MCPH1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MCPH1 No data available for Genatlas for MCPH1 Gene Sex-dependent[genecards.org]
  • Summary Epidemiology Exact prevalence of non-syndromic microcephaly is not known. MCPH is more common in Asian and Middle Eastern populations than in Caucasians, in whom an annual incidence of 1/1,000,000 is reported.[orpha.net]
  • […] microcephaly Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Carter gives the traditional account of the relevant genetic epidemiology in a section entitled “Frequency and dangers of recessive mutant genes” ( 5 ).[atm.amegroups.com]
Sex distribution
Age distribution

Pathophysiology

  • Microcephaly is the only proven malformation, or congenital abnormality, found in the children of Hiroshima and Nagasaki. [26] Other relations [ edit ] Intracranial volume also affects this pathology, as it is related with the size of the brain. [27] Pathophysiology[en.wikipedia.org]

Prevention

  • The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly.[books.google.com]
  • Interfering with Cep152 function prevents recruitment of Plk4 to the centrosome and promotes loss of CPAP, a protein required for the control of centriole length in Plk4-regulated centriole biogenesis.[unboundmedicine.com]
  • & Domains i Domains and Repeats Feature key Position(s) Description Actions Graphical view Length Domain i 1 – 93 BRCT 1 Add BLAST 93 Domain i 640 – 730 BRCT 2 Add BLAST 91 Domain i 751 – 833 BRCT 3 Add BLAST 83 Domain i BRCT domain 1 is required to prevent[uniprot.org]
  • TSL:1 CEP152-210 ENST00000561245.1 577 64aa ENSP00000453591 - H0YMG1 - 5' truncation in transcript evidence prevents annotation of the start of the CDS.[ensembl.org]
  • This mechanism is thought to be important for keeping Plk4 in low abundance and preventing centriole overduplication.[grantome.com]

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