MCID: PLL005
MIFTS: 15

Pallister-Killian Mosaic Syndrome

Categories: Rare diseases

Aliases & Classifications for Pallister-Killian Mosaic Syndrome

MalaCards integrated aliases for Pallister-Killian Mosaic Syndrome:

Name: Pallister-Killian Mosaic Syndrome 49 24
Pallister-Killian Syndrome 24 69
Tetrasomy 12p, Mosaic 49 24
Pks 49 24
Chromosome 12, Isochromosome 12p Syndrome 49
Killian Teschler-Nicola Syndrome 49
Teschler-Nicola Killian Syndrome 49
Teschler-Nicola/killian Syndrome 24
Isochromosome 12p Syndrome 24
Pallister Killian Syndrome 49
Pallister Mosaic Syndrome 49
Killian Syndrome 49

Classifications:



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UMLS 69 C0265449

Summaries for Pallister-Killian Mosaic Syndrome

NIH Rare Diseases : 49 Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects. The signs and symptoms of Pallister-Killian mosaic syndrome can vary, although most documented cases of people with the syndrome have severe to profound intellectual disability and other serious health problems. Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome 12 called isochromosome 12p. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 12p is a version of chromosome 12 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. These cells have a total of four copies of all the genes on the p arm of chromosome 12. The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. Treatment depends upon the specific symptoms present in each individual. Treating medical and developmental problems early can help to optimize outcome. Last updated: 8/8/2016

MalaCards based summary : Pallister-Killian Mosaic Syndrome, also known as pallister-killian syndrome, is related to pallister-killian syndrome and pyruvate kinase deficiency of red cells, and has symptoms including seizures Affiliated tissues include skin.

Genetics Home Reference : 24 Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.

Related Diseases for Pallister-Killian Mosaic Syndrome

Diseases related to Pallister-Killian Mosaic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 pallister-killian syndrome 12.8
2 pyruvate kinase deficiency of red cells 11.9
3 prekallikrein deficiency 11.5
4 blood group--diego system 10.1
5 cleft palate, isolated 10.1
6 dilution, pigmentary 10.1
7 diaphragmatic hernia, congenital 10.1
8 anus, imperforate 10.1
9 fryns syndrome 10.1
10 west syndrome 10.1
11 heart disease 10.1
12 retinitis 10.1
13 chromosome 12p duplication 10.1

Graphical network of the top 20 diseases related to Pallister-Killian Mosaic Syndrome:



Diseases related to Pallister-Killian Mosaic Syndrome

Symptoms & Phenotypes for Pallister-Killian Mosaic Syndrome

UMLS symptoms related to Pallister-Killian Mosaic Syndrome:


seizures

Drugs & Therapeutics for Pallister-Killian Mosaic Syndrome

Search Clinical Trials , NIH Clinical Center for Pallister-Killian Mosaic Syndrome

Genetic Tests for Pallister-Killian Mosaic Syndrome

Anatomical Context for Pallister-Killian Mosaic Syndrome

MalaCards organs/tissues related to Pallister-Killian Mosaic Syndrome:

38
Skin

Publications for Pallister-Killian Mosaic Syndrome

Articles related to Pallister-Killian Mosaic Syndrome:

# Title Authors Year
1
Pallister-Killian mosaic syndrome with emphasis on the adult phenotype. ( 3239576 )
1988

Variations for Pallister-Killian Mosaic Syndrome

Expression for Pallister-Killian Mosaic Syndrome

Search GEO for disease gene expression data for Pallister-Killian Mosaic Syndrome.

Pathways for Pallister-Killian Mosaic Syndrome

GO Terms for Pallister-Killian Mosaic Syndrome

Sources for Pallister-Killian Mosaic Syndrome

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