Pallister-Killian Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PKS MCID: PLL008 MIFTS: 45	Pallister-Killian Syndrome (PKS) Categories: Fetal diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Pallister-Killian Syndrome

MalaCards integrated aliases for Pallister-Killian Syndrome:

Name: Pallister-Killian Syndrome ⁵⁸ ⁷⁷ ⁶⁰ ³⁰ ¹³ ⁷⁴

Isochromosome 12p Syndrome ⁵⁸ ⁶⁰

Isochromosome 12p Mosaicism ⁶⁰

Tetrasomy 12p, Mosaic ⁵⁸

Tetrasomy 12p ⁶⁰

Pks ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

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:

³³

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

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other chromosome abnormalities, not elsewhere classified

Other specified chromosome abnormalities

Orphanet: ⁶⁰

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 601803

ICD10 via Orphanet ³⁵ Q99.8

UMLS via Orphanet ⁷⁵ C0265449

Orphanet ⁶⁰ ORPHA884

MedGen ⁴³ C0265449

SNOMED-CT via HPO ⁷⁰ 103276001 11731003 11934000 more

UMLS ⁷⁴ C0265449

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Summaries for Pallister-Killian Syndrome

OMIM : ⁵⁸ 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 pallister-killian mosaic syndrome and pyruvate kinase deficiency of red cells, 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 short neck and ptosis

Wikipedia : ⁷⁷ Pallister–Killian syndrome (also tetrasomy 12p mosaicism or Pallister mosaic aneuploidy syndrome) is an... more...

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Related Diseases for Pallister-Killian Syndrome

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

(show top 50) (show all 139)

#	Related Disease	Score
1	pallister-killian mosaic syndrome	12.1
2	pyruvate kinase deficiency of red cells	12.1
3	prekallikrein deficiency	11.7
4	corneal dystrophy, gelatinous drop-like	11.1
5	cleft palate, isolated	10.5
6	chromosome 12p duplication	10.5
7	diaphragmatic hernia, congenital	10.3
8	nevus, epidermal	10.3
9	pelger-huet anomaly	10.3
10	down syndrome	10.3
11	anus, imperforate	10.3
12	fryns syndrome	10.3
13	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
14	west syndrome	10.3
15	encephalopathy	10.3
16	neuroendocrine neoplasm of appendix	10.3
17	hemolytic anemia	10.2
18	tetrasomy 21	10.1
19	glioblastoma	10.0
20	prostate cancer	9.9
21	prostate cancer, hereditary, 8	9.9
22	gastrointestinal stromal tumor	9.9
23	prostate cancer, hereditary, 6	9.9
24	leukemia	9.9
25	pemphigus foliaceus	9.9
26	pneumonia	9.9
27	influenza	9.9
28	myotonic dystrophy	9.9
29	glioma	9.9
30	myotonia atrophica	9.9
31	frasier syndrome	9.9
32	pityriasis rubra pilaris	9.9
33	premature chromatid separation trait	9.9
34	retinitis pigmentosa	9.9
35	polyarteritis nodosa, childhood-onset	9.9
36	neutropenia	9.9
37	thrombocytopenia	9.9
38	lymphoma	9.9
39	lymphocytic leukemia	9.9
40	sarcoma	9.9
41	hereditary spherocytosis	9.9
42	melanoma	9.9
43	glioblastoma multiforme	9.9
44	herpes simplex	9.9
45	muscular dystrophy	9.9
46	hemophilia	9.9
47	haemophilus influenzae	9.9
48	leukemia, chronic lymphocytic 2	9.7
49	burkitt lymphoma	9.7
50	breast cancer	9.7

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

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Symptoms & Phenotypes for Pallister-Killian Syndrome

Human phenotypes related to Pallister-Killian Syndrome:

⁶⁰ ³³ (show top 50) (show all 96)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	short neck ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000470
2	ptosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000508
3	muscular hypotonia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001252
4	delayed skeletal maturation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002750
5	short stature ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004322
6	intellectual disability, severe ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0010864
7	long philtrum ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000343
8	delayed eruption of teeth ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000684
9	joint hyperflexibility ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005692
10	everted lower lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000232
11	hypohidrosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000966
12	reduced tendon reflexes ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001315
13	cachexia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004326
14	downturned corners of mouth ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002714
15	thin upper lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000219
16	thick upper lip vermilion ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000215
17	sparse hair ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0008070
18	sparse and thin eyebrow ³³	hallmark (90%)		HP:0000535
19	hypertelorism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000316
20	frontal bossing ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002007
21	coarse facial features ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000280
22	short nose ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0003196
23	anteverted nares ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000463
24	prominent forehead ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011220
25	telecanthus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000506
26	upslanted palpebral fissure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000582
27	strabismus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000486
28	anal atresia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002023
29	abnormal soft palate morphology ³³	occasional (7.5%)		HP:0100736
30	macrocephaly ³³			HP:0000256
31	obesity ³³			HP:0001513
32	seizures ³³			HP:0001250
33	inguinal hernia ³³			HP:0000023
34	macroglossia ³³			HP:0000158
35	hearing impairment ³³			HP:0000365
36	macrotia ³³			HP:0000400
37	cataract ³³			HP:0000518
38	depressed nasal bridge ³³			HP:0005280
39	wide nasal bridge ³³			HP:0000431
40	umbilical hernia ³³			HP:0001537
41	hypertonia ³³			HP:0001276
42	flexion contracture ³³			HP:0001371
43	hypertrophic cardiomyopathy ³³			HP:0001639
44	full cheeks ³³			HP:0000293
45	cleft palate ³³			HP:0000175
46	micrognathia ³³			HP:0000347
47	feeding difficulties ³³			HP:0011968
48	patent ductus arteriosus ³³			HP:0001643
49	epicanthus ³³			HP:0000286
50	cryptorchidism ³³			HP:0000028

Symptoms via clinical synopsis from OMIM:

⁵⁸

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 Spine:
kyphoscoliosis
sacral appendage

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
congenital hip dislocation

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

UMLS symptoms related to Pallister-Killian Syndrome:

seizures

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

²⁷ (show all 17)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-109	9.89	GMPS
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.89	GMPS
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-15	9.89	GMPS
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-167	9.89	GMPS
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-173	9.89	GMPS
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-200	9.89	GMPS
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-213	9.89	TBX5
8	Decreased shRNA abundance (Z-score < -2)	GR00366-A-216	9.89	GMPS
9	Decreased shRNA abundance (Z-score < -2)	GR00366-A-34	9.89	GMPS
10	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	9.89	GMPS
11	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.89	GMPS
12	Decreased shRNA abundance (Z-score < -2)	GR00366-A-55	9.89	GMPS
13	Decreased shRNA abundance (Z-score < -2)	GR00366-A-60	9.89	GMPS
14	Decreased shRNA abundance (Z-score < -2)	GR00366-A-84	9.89	GMPS
15	Decreased shRNA abundance (Z-score < -2)	GR00366-A-91	9.89	TBX5
16	Decreased shRNA abundance (Z-score < -2)	GR00366-A-98	9.89	GMPS TBX5
17	shRNA abundance <= 50%	GR00343-S	8.92	ARAF GMPS IGFBP2 TBX5

Sources

Drugs & Therapeutics for Pallister-Killian Syndrome

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

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Genetic Tests for Pallister-Killian Syndrome

Genetic tests related to Pallister-Killian Syndrome:

#	Genetic test	Affiliating Genes
1	Pallister-Killian Syndrome ³⁰

Sources

Anatomical Context for Pallister-Killian Syndrome

MalaCards organs/tissues related to Pallister-Killian Syndrome:

⁴²

Skin, Kidney, Uterus, Lung, Brain, Bone, Bone Marrow

Sources

Publications for Pallister-Killian Syndrome

Articles related to Pallister-Killian Syndrome:

(show top 50) (show all 150)

#	Title	Authors	Year
1	Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome. ( 30430791 )	Bertini V...Angelo V	2019
2	Pallister-Killian syndrome: Review of fetal phenotype. ( 29790157 )	Thakur S....Saxena K.K.	2018
3	Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. ( 30289601 )	Salzano E...Krantz ID	2018
4	Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester. ( 30342660 )	Frisova V...Raskova D	2018
5	Pallister-Killian Syndrome: The Diagnosis is in the Detail. ( 30517961 )	Sailer S...Fern?ndez MEM	2018
6	Prenatal diagnosis of Pallister-Killian Syndrome. ( 30125405 )	Santos W...Amaral WND	2018
7	Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases. ( 30140312 )	Karaman B...Basaran S	2018
8	Prenatal diagnosis of Pallister-Killian syndrome in one twin. ( 30147884 )	Li L...Fang Q	2018
9	Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. ( 28489314 )	Alesi V....Dallapiccola B.	2017
10	Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos. ( 28661575 )	Liehr T....Schreyer I.	2017
11	Neuroimaging findings in Pallister-Killian syndrome. ( 29260614 )	Barkovich E.J....Whitehead M.T.	2017
12	Pallister-Killian syndrome in a two-year-old boy. ( 28588808 )	Stone L....Hernandez C.	2017
13	Targeted prenatal diagnosis of Pallister-Killian syndrome. ( 28233318 )	KuciA8ska-Chahwan A....Roszkowski T.	2017
14	Progressive subglottic stenosis in a child with Pallister-Killian syndrome. ( 28745802 )	Shiohama T....Shimojo N.	2017
15	Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome. ( 27834069 )	Lee M.N....Kim S.H.	2017
16	A review of structural brain abnormalities in Pallister-Killian syndrome. ( 29222831 )	Poulton C....Heng J.I.	2017
17	Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis. ( 29241934 )	Chen C.P....Wang W.	2017
18	Dental Treatment of a Child with Pallister-Killian Syndrome. ( 26998367 )	Didinen S....TulunoA9lu A.9.	2016
19	Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands. ( 27354242 )	Bagattoni S....Piana G.	2016
20	Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. ( 28040135 )	Libotte F....Giorlandino C.	2016
21	Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. ( 27247953 )	Fujiki K....Izumi K.	2016
22	Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome. ( 29485827 )	Cetin Z....Yakut S.	2016
23	Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )	Nelson G....Shenefelt P.	2016
24	Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. ( 26890086 )	Davidsson J....Johansson B.	2016
25	Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations. ( 26471928 )	Santamaria A....Corrado F.	2015
26	Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype. ( 25900123 )	Izumi K....Krantz I.D.	2015
27	Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. ( 26120363 )	Costa L.S....Kim C.A.	2015
28	Pallister-Killian syndrome: a study of 22 British patients. ( 25888713 )	Blyth M....Baralle D.	2015
29	Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome. ( 25510702 )	Chen C.P....Wang W.	2014
30	Cardiac manifestations of Pallister-Killian syndrome. ( 24504854 )	Tilton R.K....Izumi K.	2014
31	Pallister-Killian syndrome. ( 25425112 )	Izumi K....Krantz I.D.	2014
32	Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency. ( 25286801 )	OzlA1 T....Ozyurt O.	2014
33	Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis. ( 25134307 )	Moro M.A....Capobianco G.	2014
34	Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. ( 25329894 )	Kaur M....Krantz I.D.	2014
35	12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome. ( 24981202 )	Izumi K....Krantz I.D.	2014
36	Pallister-Killian syndrome. ( 24826207 )	Srinivasan A....Wright D.	2014
37	Response to Cobben et al. &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&quot;. ( 23613434 )	Hodge J.C....Kirmani S.	2013
38	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 )	Cobben J.M....Polstra A.	2013
39	Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome? ( 23485930 )	Lloveras E....Plaja A.	2013
40	Pallister-Killian syndrome: a common yet under-recognised cause of epileptic spasms. ( 24317015 )	Kapoor S.	2013
41	Seizure characteristics in Pallister-Killian syndrome. ( 23169688 )	Candee M.S....Filloux F.M.	2012
42	Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. ( 23169763 )	Kostanecka A....Pipan M.	2012
43	Pallister-Killian syndrome: historical perspective and foreword. ( 23169691 )	Pallister P.	2012
44	Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. ( 23169773 )	Conlin L.K....Krantz I.D.	2012
45	Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. ( 23169767 )	Wilkens A....Krantz I.D.	2012
46	An Indian boy with additional features in Pallister-Killian syndrome. ( 22012142 )	Shah K...Danda S	2012
47	Ultrasound presentation of Pallister-Killian syndrome with a prominent sacral appendage. ( 22253116 )	Johnstone ED...Jones EA	2012
48	Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard. ( 22315202 )	Hodge JC...Kirmani S	2012
49	Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister-Killian syndrome. ( 22349688 )	Filloux FM...Candee MS	2012
50	Clinical and radiological findings in Pallister-Killian syndrome. ( 22387057 )	Jamuar S...Nishimura G	2012

Sources

Genes for Pallister-Killian Syndrome

Genes related to Pallister-Killian Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	500	Structural variation ⁵⁸
2	TBX5	T-Box 5	Protein Coding	17.5	GeneCards inferred via : Publications (show sections)
3	IGFBP2	Insulin Like Growth Factor Binding Protein 2	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
4	GMPS	Guanine Monophosphate Synthase	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)
5	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	7.5	GeneCards inferred via : Publications (show sections)

Sources

Variations for Pallister-Killian Syndrome

Sources

Expression for Pallister-Killian Syndrome

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

Sources

Pathways for Pallister-Killian Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Glucose / Energy Metabolism ⁴	11.45	GMPS IGFBP2
2	mTOR signaling pathway (KEGG) ⁶⁶ Show member pathways mTOR signaling pathway ³⁸	11.09	ARAF ATP6V1G1

Sources

GO Terms for Pallister-Killian Syndrome

Sources

Sources for Pallister-Killian Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Pallister-Killian Syndrome (PKS)

Aliases & Classifications for Pallister-Killian Syndrome

MalaCards integrated aliases for Pallister-Killian Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pallister-Killian Syndrome

Related Diseases for Pallister-Killian Syndrome

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

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

Symptoms & Phenotypes for Pallister-Killian Syndrome

Human phenotypes related to Pallister-Killian Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Pallister-Killian Syndrome:

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

Drugs & Therapeutics for Pallister-Killian Syndrome

Genetic Tests for Pallister-Killian Syndrome

Genetic tests related to Pallister-Killian Syndrome:

Anatomical Context for Pallister-Killian Syndrome

MalaCards organs/tissues related to Pallister-Killian Syndrome:

Publications for Pallister-Killian Syndrome

Articles related to Pallister-Killian Syndrome:

Genes for Pallister-Killian Syndrome

Genes related to Pallister-Killian Syndrome (1 elite genes):

Variations for Pallister-Killian Syndrome

Expression for Pallister-Killian Syndrome

Pathways for Pallister-Killian Syndrome

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

GO Terms for Pallister-Killian Syndrome

Sources for Pallister-Killian Syndrome