MCID: PLL004
MIFTS: 27

Pallister W Syndrome

Categories: Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pallister W Syndrome

MalaCards integrated aliases for Pallister W Syndrome:

Name: Pallister W Syndrome 57 53 72
W Syndrome 57 53 59
Median Cleft Upper Lip, Mental Retardation and Pugilistic Facies 53
Pallister-W Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
w syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked


HPO:

32
pallister w syndrome:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 311450
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C0796110
Orphanet 59 ORPHA2804
MedGen 42 C0796110
UMLS 72 C0796110

Summaries for Pallister W Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2804DefinitionW syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pallister W Syndrome, also known as w syndrome, is related to neurofibromatosis, type ii and progressive familial heart block, type ia. Affiliated tissues include eye, heart and lung, and related phenotypes are hypertelorism and clinodactyly

More information from OMIM: 311450

Related Diseases for Pallister W Syndrome

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

# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type ii 9.7
2 progressive familial heart block, type ia 9.7
3 hypertelorism 9.7
4 wolff-parkinson-white syndrome 9.7
5 hyperthyroidism 9.7
6 spasticity 9.7
7 syncope 9.7

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



Diseases related to Pallister W Syndrome

Symptoms & Phenotypes for Pallister W Syndrome

Human phenotypes related to Pallister W Syndrome:

59 32 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 clinodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0030084
3 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
7 prominent forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0011220
8 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
9 acne 59 32 hallmark (90%) Very frequent (99-80%) HP:0001061
10 metatarsus adductus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001840
11 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
12 pes cavus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001761
13 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
14 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
15 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
16 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
17 hypoplasia of the ulna 59 32 hallmark (90%) Very frequent (99-80%) HP:0003022
18 camptodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0012385
19 submucous cleft hard palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000176
20 radial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002986
21 upper lip pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0100268
22 alternating esotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001137
23 agenesis of maxillary central incisor 59 32 hallmark (90%) Very frequent (99-80%) HP:0006293
24 broad uvula 59 32 hallmark (90%) Very frequent (99-80%) HP:0010809
25 abnormality of the scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0100037
26 frontal bossing 32 HP:0002007
27 intellectual disability 32 HP:0001249
28 seizures 32 HP:0001250
29 wide nasal bridge 32 HP:0000431
30 radial deviation of finger 32 HP:0009466
31 agenesis of central incisor 32 HP:0006289
32 joint contracture of the hand 32 HP:0009473
33 frontal upsweep of hair 32 HP:0002236

Symptoms via clinical synopsis from OMIM:

57
Eyes:
hypertelorism
telecanthus
alternating esotropia
down-slanting palpebral fissures

Neuro:
seizures
mental retardation
mild spasticity

Nose:
broad nasal bridge
flat nasal bridge broad nasal tip

Teeth:
absent upper central incisors

Joints:
limited elbow motion due to subluxation

Limbs:
clinodactyly
pes planus
cubitus valgus
pes cavus
camptodactyly
more
Mouth:
submucous cleft hard palate
broad uvula
midline notch of upper lip

Facies:
frontal prominence

Hair:
anterior cowlick

Clinical features from OMIM:

311450

Drugs & Therapeutics for Pallister W Syndrome

Search Clinical Trials , NIH Clinical Center for Pallister W Syndrome

Genetic Tests for Pallister W Syndrome

Anatomical Context for Pallister W Syndrome

MalaCards organs/tissues related to Pallister W Syndrome:

41
Eye, Heart, Lung, Kidney, Spleen

Publications for Pallister W Syndrome

Articles related to Pallister W Syndrome:

(show top 50) (show all 66)
# Title Authors PMID Year
1
W syndrome: report of three cases and review. 38 8
10594887 1999
2
A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration of a hitherto private syndrome. 38 8
8287184 1993
3
Monitoring Kidney Dysfunction in Kugelberg-Welander Syndrome. 38
30943186 2019
4
Contributions of the Instituto Nacional de Cardiología in the diagnosis and treatment of the Wolff-Parkinson - White syndrome. 38
21169099 2010
5
[Radiofrequency catheter ablation of arrhythmias in pediatric patients guided by three-dimensional mapping system]. 38
20021797 2009
6
Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist. 38
15875139 2005
7
[An adult case of hypoplasia of the left lung disclosed by pneumonectomy for pulmonary M. avium complex infection associated with intractable pneumothorax]. 38
14672047 2003
8
[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome]. 38
12132284 2002
9
[Pallister-W syndrome]. 38
11528840 2001
10
[Mallory-Weiss syndrome. Outcome of 160 cases]. 38
10575888 1999
11
Improvement of Echocardiographic M-Mode Detection of Ventricular Precontraction in the Wolff-Parkinson-White Syndrome by Transesophageal Atrial Pacing. 38
11175067 1998
12
The use of body surface potential map for identifying sites of accessory pathway in patients with Wolff-Parkinson-White syndrome. 38
9810295 1998
13
Daily profile of serum leptin in Prader-Willi syndrome complicated by diabetes mellitus--a case report. 38
9497896 1997
14
Transseptal methods for percutaneous balloon valvoplasty simultaneously with radiofrequency catheter ablation. 38
8728936 1995
15
Cavernous lymphangioma of the spleen in a patient with Klippel-Trenaunay-Weber syndrome. 38
8000113 1994
16
[Surgical therapy of serious heart rhythm disorders]. 38
8160085 1994
17
Surgical treatment of 100 patients with W-P-W syndrome. 38
2517736 1989
18
[Vectorcardiographic manifestations of the W-P-W syndrome with associated cardiopathy]. 38
2675788 1989
19
Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome. 38
2531862 1989
20
[The P loop and delta vector in W-P-W syndrome]. 38
3436244 1987
21
Evaluation of the state of health of subjects with W-P-W syndrome. 38
3595148 1987
22
Lorcainide treatment of Wolff-Parkinson-White syndrome in children and adolescents. 38
2440013 1987
23
[Diagnosis in W-P-W syndrome complicating bundle branch block]. 38
3743402 1986
24
[An autopsy case of Prader-Labhart-Willi syndrome]. 38
4074578 1985
25
[Electrophysiologic study of paroxysmal supraventricular tachycardia]. 38
4054819 1985
26
Determination of the preexcitation focus in the W-P-W picture by isopotential body-surface mapping. 38
4053620 1985
27
[Pre- and postoperative care of patients undergoing operations for W-P-W syndrome]. 38
6571039 1984
28
Surgical correction of Ebstein's anomaly by tricuspid valve replacement and its late problems. 38
6725385 1984
29
[Supraventricular tachycardia in children]. 38
6657130 1983
30
[Surgical treatment of W-P-W syndrome with multiple atrioventricular accessory conduction pathways and long conduction time]. 38
6658214 1983
31
Beta-endorphin immunoreactivity in the plasma of patients with the Prader-Labhart-Willi syndrome and their normal siblings. 38
6305703 1983
32
Bystander accessory pathway during AV node re-entrant tachycardia. 38
6191290 1983
33
Transesophageal pacing for prognostic evaluation of preexcitation syndrome and assessment of protective therapy. 38
6823867 1983
34
[A successful surgical case of simultaneous operation combined with Sealy's method (type A W-P-W syndrome) and aorto-coronary bypass graft]. 38
6603007 1983
35
Autoantibodies in the BB/W rat. 38
6761216 1982
36
Upper limb involvement in the Klein-Waardenburg syndrome. 38
7091186 1982
37
[Closed chest interruption of A-V conduction in the treatment of refractory supraventricular tachyarrhythmias. A clinical contribution]. 38
7160568 1982
38
Experimental and clinical study of the pre-excitation syndrome. 38
7218502 1981
39
[Problems concerning surgical management of W-P-W syndrome]. 38
536612 1979
40
[Total transposition of the great vessels associated to a peculiar preexcitation syndrome]. 38
475503 1979
41
[Epicardial mapping. Surgical management and epicardial mapping in W. P. W. syndrome]. 38
529429 1979
42
Intrauterine supraventricular tachycardia. 38
726873 1978
43
[Two cases of W-P-W syndrome who developed supraventricular tachycardia during and after anesthesia (author's transl)]. 38
599642 1977
44
[Observations on varions electrovectocardiographic aspects of the W-P-W syndrome]. 38
984954 1976
45
[His bundle electrogram in a patient with Ebstein's anomaly complicated with W-P-W syndrome (type B)--mechanism of W-P-W (type B) (author's transl)]. 38
943827 1976
46
[Pre-excitation syndrome in monozygotic twins]. 38
945720 1976
47
Wolff-Parkinson-White syndrome: mechanocardiographic study on the mechanical consequences of ventricular pre-excitation. 38
1136937 1975
48
[Familial occurrence of Wolff-Parkinson-White syndrome. Report of a family group and review of the literature]. 38
1180606 1975
49
Pseudo-Wolff-Parkinson-White syndrome observed in a patient with Lutembacher's syndrome. 38
1117593 1975
50
Hyperthyroidism and W P W syndrome. 38
4852330 1974

Variations for Pallister W Syndrome

Expression for Pallister W Syndrome

Search GEO for disease gene expression data for Pallister W Syndrome.

Pathways for Pallister W Syndrome

GO Terms for Pallister W Syndrome

Sources for Pallister W Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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