MCID: PLL008
MIFTS: 41

Pallister-Killian Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pallister-Killian Syndrome

MalaCards integrated aliases for Pallister-Killian Syndrome:

Name: Pallister-Killian Syndrome 57 59 29 13 73
Isochromosome 12p Syndrome 57 59
Isochromosome 12p Mosaicism 59
Tetrasomy 12p, Mosaic 57
Tetrasomy 12p 59
Pks 57

Characteristics:

Orphanet epidemiological data:

59
tetrasomy 12p
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
somatic mosaicism

Miscellaneous:
significant number of patients are stillborn or die in neonatal period
birth incidence approximately 5.1 per million live births


HPO:

32
pallister-killian syndrome:
Mortality/Aging stillbirth
Inheritance somatic mosaicism


Classifications:



Summaries for Pallister-Killian Syndrome

OMIM : 57 Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987). (601803)

MalaCards based summary : Pallister-Killian Syndrome, also known as isochromosome 12p syndrome, is related to pyruvate kinase deficiency of red cells and pallister-killian mosaic syndrome, and has symptoms including seizures An important gene associated with Pallister-Killian Syndrome is ARAF (A-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are Glucose / Energy Metabolism and mTOR signaling pathway (KEGG). Affiliated tissues include skin, kidney and uterus, and related phenotypes are hypertelorism and short neck

Wikipedia : 76 Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an... more...

Related Diseases for Pallister-Killian Syndrome

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

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

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



Diseases related to Pallister-Killian Syndrome

Symptoms & Phenotypes for Pallister-Killian Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
myopia
sparse eyelashes
more
Growth Weight:
obesity
normal to increased birth weight

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
small scrotum

Abdomen External Features:
umbilical hernia
omphalocele

Head And Neck Head:
prominent forehead
normal to increased head circumference
postnatal deceleration of head circumference

Head And Neck Face:
full cheeks
long philtrum
micrognathia
coarse facial features over time

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of the aorta

Skin Nails Hair Skin:
hypohidrosis
anhidrosis
hypopigmented streaks
transverse palmar creases
hyperpigmented streaks

Skeletal Pelvis:
congenital hip dislocation

Skeletal Limbs:
mesomelic/rhizomelic limb shortening
hypermobile joints
contractures develop with age

Skeletal Hands:
postaxial polydactyly
fifth finger clinodactyly
short fingers
transverse palmar creases
broad hands
more
Chest Breasts:
accessory nipples

Head And Neck Ears:
deafness
large ears
external auditory canal stenosis
protruding lobules

Respiratory Lung:
lung hypoplasia

Chest Diaphragm:
diaphragmatic hernia

Genitourinary:
persistence of urogenital sinus/cloaca

Laboratory Abnormalities:
mosaic tetrasomy 12p in skin fibroblasts
isochromosome often missing in lymphocyte

Head And Neck Neck:
short neck
webbed neck

Neurologic Central Nervous System:
intellectual disability
seizures
profound mental retardation (in some patients)
hypotonia (newborn)
hypertonia (older children and adolescents)
more
Head And Neck Mouth:
macroglossia
cleft palate
bifid uvula
thin upper lip
protruding lower lip
more
Head And Neck Nose:
short nose
anteverted nostrils
flat, broad nasal root

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrial septal defect
ventricular septal defect
aortic stenosis
pericardial agenesis

Abdomen Gastrointestinal:
feeding difficulties
anal atresia
intestinal malrotation
anteriorly placed anus
anal stenosis
more
GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Spine:
kyphoscoliosis
sacral appendage

Skin Nails Hair Hair:
sparse eyelashes
sparse anterior scalp hair
sparse eyebrows

Respiratory:
hyperventilation

Skeletal Feet:
postaxial polydactyly
broad feet
short toes

Head And Neck Teeth:
delayed dental eruption

Genitourinary Kidneys:
dysplastic kidneys
cystic kidneys

Genitourinary Internal Genitalia Female:
absent uterus
absent upper vagina

Growth Height:
normal to increased birth length
postnatal deceleration of length

Genitourinary External Genitalia Female:
hypoplasia of labia majora


Clinical features from OMIM:

601803

Human phenotypes related to Pallister-Killian Syndrome:

59 32 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
9 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
12 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
13 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
14 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
15 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
16 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
17 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
18 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
19 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
20 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
21 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
22 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
23 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
24 downturned corners of mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0002714
25 thin upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000219
26 thick upper lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000215
27 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
28 macrocephaly 32 HP:0000256
29 obesity 32 HP:0001513
30 seizures 32 HP:0001250
31 inguinal hernia 32 HP:0000023
32 macroglossia 32 HP:0000158
33 hearing impairment 32 HP:0000365
34 macrotia 32 HP:0000400
35 cataract 32 HP:0000518
36 depressed nasal bridge 32 HP:0005280
37 wide nasal bridge 32 HP:0000431
38 umbilical hernia 32 HP:0001537
39 hypertonia 32 HP:0001276
40 flexion contracture 32 HP:0001371
41 hypertrophic cardiomyopathy 32 HP:0001639
42 full cheeks 32 HP:0000293
43 cleft palate 32 HP:0000175
44 micrognathia 32 HP:0000347
45 feeding difficulties 32 HP:0011968
46 patent ductus arteriosus 32 HP:0001643
47 epicanthus 32 HP:0000286
48 cryptorchidism 32 HP:0000028
49 webbed neck 32 HP:0000465
50 myopia 32 HP:0000545

UMLS symptoms related to Pallister-Killian Syndrome:


seizures

GenomeRNAi Phenotypes related to Pallister-Killian Syndrome according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.91 GMPS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.91 GMPS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.91 GMPS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.91 GMPS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.91 GMPS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.91 GMPS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.91 TBX5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.91 GMPS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.91 GMPS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.91 GMPS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.91 GMPS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 GMPS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.91 GMPS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.91 GMPS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.91 GMPS
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.91 TBX5
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.91 GMPS TBX5
18 shRNA abundance <= 50% GR00343-S 8.92 ARAF GMPS IGFBP2 TBX5

Drugs & Therapeutics for Pallister-Killian Syndrome

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

Genetic Tests for Pallister-Killian Syndrome

Genetic tests related to Pallister-Killian Syndrome:

# Genetic test Affiliating Genes
1 Pallister-Killian Syndrome 29

Anatomical Context for Pallister-Killian Syndrome

MalaCards organs/tissues related to Pallister-Killian Syndrome:

41
Skin, Kidney, Uterus, Lung, Brain, Heart

Publications for Pallister-Killian Syndrome

Articles related to Pallister-Killian Syndrome:

(show top 50) (show all 67)
# Title Authors Year
1
Pallister-Killian syndrome: Review of fetal phenotype. ( 29790157 )
2018
2
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. ( 28489314 )
2017
3
Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos. ( 28661575 )
2017
4
Neuroimaging findings in Pallister-Killian syndrome. ( 29260614 )
2017
5
Pallister-Killian syndrome in a two-year-old boy. ( 28588808 )
2017
6
Targeted prenatal diagnosis of Pallister-Killian syndrome. ( 28233318 )
2017
7
Progressive subglottic stenosis in a child with Pallister-Killian syndrome. ( 28745802 )
2017
8
Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome. ( 27834069 )
2017
9
A review of structural brain abnormalities in Pallister-Killian syndrome. ( 29222831 )
2017
10
Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis. ( 29241934 )
2017
11
Dental Treatment of a Child with Pallister-Killian Syndrome. ( 26998367 )
2016
12
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands. ( 27354242 )
2016
13
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. ( 28040135 )
2016
14
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. ( 27247953 )
2016
15
Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome. ( 29485827 )
2016
16
Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )
2016
17
Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. ( 26890086 )
2016
18
Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations. ( 26471928 )
2015
19
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype. ( 25900123 )
2015
20
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. ( 26120363 )
2015
21
Pallister-Killian syndrome: a study of 22 British patients. ( 25888713 )
2015
22
Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome. ( 25510702 )
2014
23
Cardiac manifestations of Pallister-Killian syndrome. ( 24504854 )
2014
24
Pallister-Killian syndrome. ( 25425112 )
2014
25
Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency. ( 25286801 )
2014
26
Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis. ( 25134307 )
2014
27
Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. ( 25329894 )
2014
28
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome. ( 24981202 )
2014
29
Pallister-Killian syndrome. ( 24826207 )
2014
30
Response to Cobben et al. &amp;quot;Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice&amp;quot;. ( 23613434 )
2013
31
Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice. ( 23613446 )
2013
32
Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome? ( 23485930 )
2013
33
Pallister-Killian syndrome: a common yet under-recognised cause of epileptic spasms. ( 24317015 )
2013
34
Seizure characteristics in Pallister-Killian syndrome. ( 23169688 )
2012
35
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. ( 23169763 )
2012
36
Pallister-Killian syndrome: historical perspective and foreword. ( 23169691 )
2012
37
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. ( 23169773 )
2012
38
Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. ( 23169767 )
2012
39
Iris transillumination defects associated with pallister-killian syndrome. ( 20128558 )
2010
40
Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage. ( 20711972 )
2010
41
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. ( 20219705 )
2010
42
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. ( 20437642 )
2010
43
Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis. ( 19340439 )
2009
44
A case of Pallister-Killian syndrome associated with West syndrome. ( 17765815 )
2007
45
Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p. ( 16918638 )
2006
46
Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency. ( 17060438 )
2006
47
Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. ( 15750020 )
2005
48
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. ( 12476459 )
2003
49
Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p). ( 12955773 )
2003
50
Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. ( 12082482 )
2002

Variations for Pallister-Killian Syndrome

Expression for Pallister-Killian Syndrome

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

Pathways for Pallister-Killian Syndrome

Pathways related to Pallister-Killian Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.45 GMPS IGFBP2
2
Show member pathways
11.09 ARAF ATP6V1G1

GO Terms for Pallister-Killian Syndrome

Sources for Pallister-Killian Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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