Symptoma

Autosomal Recessive Primary Microcephaly Type 13

MCPH13

Acronym MCPH13 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally 4. [centogene.com]

In this review, we will present an overview of MCPH1 from these multiple angles, and whilst its specific role in brain size regulation during development and evolution remain elusive, the pieces of the puzzle will be discussed with the aim of putting [hal.archives-ouvertes.fr]

Microcephaly can be primary, when present from birth, or secondary, developing during the first years of life. The latter may occur in patients with severe epileptic encephalopathies. [epilepsygenetics.net]

They present with developmental delay but with a pleasant personality and good social adaptation which is seemingly a characteristic of MCPH1 patients. [karger.com]

  • Small Hand

    Small hands and feet, hypogonadism. Fragile-X Syndrome Chromosomal Sex chromosome Progressively longer tandem repeats on the long arm of the X-chromosome. The longer the number of repeats, the worse the syndrome. [kumc.edu]

  • Round Face

    Low birth-weight, round-face, hypertelorism (wide-set eyes), low-set ears, epicanthal folds. Down Syndrome (Trisomy 21) Chromosomal Trisomy 21, with risk increasing with maternal age. [kumc.edu]

  • Seizure

    Seizures are usually responsive to monotherapy with standard antiepileptic drugs (AEDs). [centogene.com]

    The brother had borderline/normal intelligence, episodic seizures, and clumsiness; the sister had a normal IQ and neither seizures nor behavioral abnormalities. [genome.jp]

    Additional clinical features may include short stature or mild seizures. [diseaseinfosearch.org]

    PMID 17534152 ASPM mutations identified in patients with primary microcephaly and seizures. Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. J Med Genet. 2005 Sep;42(9):725-9. [atlasgeneticsoncology.org]

    "Mutations in PNKP cause microcephaly, seizures and defects in DNA repair". Nature Genetics. 42 (3): 245–9. doi : 10.1038/ng.526. PMC 2835984. PMID 20118933. [en.wikipedia.org]

Any further studies and workup should be directed by the presence of signs or symptoms pointing to an underlying diagnosis and are usually used as confirmatory testing for certain conditions. [mdpi.com]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment: Remove fructose from diet. Galactosemia Carbohydrate Metabolism Defect Autosomal Recessive. [kumc.edu]

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]

In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects. [actasdermo.org]

Prognosis Microcephaly is a lifelong condition with no known cure. The prognosis is usually worse for children who experienced an intrauterine infection or have a chromosomal or metabolic abnormality. [mdpi.com]

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 has been stratified and studied differently based on the etiology and the timing of onset. [mdpi.com]

Pathology by systems Nervous system Central nervous system Brain microcephaly DA:7 Monday 10 January 2005 Etiology primary microcephaly autosomal recessive primary microcephaly (MCPH) autosomal domiant primary microcephaly X-linked primary microcephaly [humpath.com]

[…] importance not only for our understanding of physiologic brain development (particularly of cortex formation), but also for that of trends in mammalian evolution with a massive increase in size of the cerebral cortex in primates, of microcephalies of other etiologies [kclpure.kcl.ac.uk]

We hope that the results and discussions contributed by all authors in this research topic will be broadly useful for further advances in basic research, as well as improvements in the etiology and care of patients suffering from neurological and psychiatric [books.google.com]

[…] 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]

Relevant External Links for CENPJ Genetic Association Database (GAD) CENPJ Human Genome Epidemiology (HuGE) Navigator CENPJ Atlas of Genetics and Cytogenetics in Oncology and Haematology: CENPJ No data available for Genatlas for CENPJ Gene Protein 4.1 [genecards.org]

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]

2010, Primary microcephaly in Hungary: epidemiology and clinical features., Acta. Paediatr., 99, 690-693. [4] Darvish, H., Esmaeeli-Nieh, S., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S. [article.sapub.org]

"Methodologic issues in epidemiologic studies of congenital microcephaly". Early Hum Dev. 69 (1): 91–105. doi : 10.1016/S0378-3782(02)00065-8. Opitz, J. M.; Holt, M. C. (1990). "Microcephaly: general considerations and aids to nosology". [en.wikipedia.org]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med 335: 1870, 2005. CrossRef Google Scholar 9. Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J. [link.springer.com]

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]

Additionally, increasing resources are being made available for the prevention and research of Zika virus including mosquito prevention and identification, and limiting travel to highly endemic areas. [mdpi.com]

The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.com]

Centers for Disease Control and Prevention. 2016-01-15. Archived from the original on 2016-01-18. Retrieved 2016-01-17. Beth Mole (2016-01-17). "CDC issues travel advisory for 14 countries with alarming viral outbreaks]". Ars Technica. Condé Nast. [en.wikipedia.org]