W syndrome

W 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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 12 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.8%)		 10594887
 W syndrome: report of three cases and review.
Goizet C, Bonneau D, Lacombe D.
Am J Med Genet. 1999;87(5):446-9.
Oral cleft Spasticity
Adult Bone and Bones Child Cleft Palate Developmental Disabilities Facies Genes, Dominant Homo sapiens Intellectual Disability Male Phenotype Syndrome Tooth Abnormalities X Chromosome
2
(31.0%)		 7091186
 Upper limb involvement in the Klein-Waardenburg syndrome.
Goodman RM, Lewithal I, Solomon A, Klein D.
Am J Med Genet. 1982;11(4):425-33.
Syndactyly
rs104893653
Adult Child Congenital Hand Deformities Females Genes, Dominant Hand Homo sapiens Male Syndrome Waardenburg Syndrome
3
(4.0%)		 15875139
 Successful management of cesarean section in a patient with Romano-Ward syndrome using landiolol, a selective and short-acting beta1 receptor antagonist.
Kubo K, Murao K, Nakao S, Kanoda T, Yamada M, Shingu K.
J Anesth. 2005;19(2):174-6.
Syncope
CD59
Adrenergic beta-Antagonists Adult Electrocardiography Females Homo sapiens Morpholines Pregnancy Pregnancy Complications, Cardiovascular Romano-Ward Syndrome
3
(4.0%)		 14672047
 [An adult case of hypoplasia of the left lung disclosed by pneumonectomy for pulmonary M. avium complex infection associated with intractable pneumothorax].
Hirata S, Tsuji E.
Kekkaku. 2003;78(11):699-704.
Pulmonary hypoplasia
TRIM27
Homo sapiens Lung Male Middle Aged Mycobacterium avium-intracellulare Infection Pneumonectomy Pneumothorax Tuberculosis, Pulmonary
3
(4.0%)		 9497896
 Daily profile of serum leptin in Prader-Willi syndrome complicated by diabetes mellitus--a case report.
Isotani H, Kameoka K, Furukawa K.
Horm Metab Res. 1997;29(12):611-2.
Diabetes mellitus
LEP
Adult Blood Glucose Circadian Rhythms Complications of Diabetes Mellitus Diabetes Mellitus Females Homo sapiens Insulin Prader-Willi Syndrome Proteins
3
(4.0%)		 8000113
 Cavernous lymphangioma of the spleen in a patient with Klippel-Trenaunay-Weber syndrome.
Yamazaki M, Kawamura Y, Ohka T, Katada S, Morita K, Nakagawa M, Kubo E, Kawashima A, Shimizu H, Nobata K, et al..
Intern Med. 1994;33(9):574-7.
Splenomegaly
Adult Disseminated Intravascular Coagulation Females Homo sapiens Klippel-Trenaunay-Weber Syndrome Lymphangioma Splenectomy Splenic Neoplasms
3
(4.0%)		 7160568
 [Closed chest interruption of A-V conduction in the treatment of refractory supraventricular tachyarrhythmias. A clinical contribution].
Critelli G, Gallagher JJ, Perticone F, Monda V, Coltorti F, Condorelli M.
G Ital Cardiol. 1982;12(6):419-27.
Cardiomyopathy
Atrial Fibrillation Atrial Flutter Cardiac Pacing, Artificial Digitalis Glycosides Females Heart Block Homo sapiens Male Middle Aged Tachycardia
3
(4.0%)		 6191290
 Bystander accessory pathway during AV node re-entrant tachycardia.
Smith WM, Broughton A, Reiter MJ, Benson DW Jr, Grant AO, Gallagher JJ.
Pacing Clin Electrophysiol. 1983;6(3 Pt 1):537-47.
Tachycardia
Bundle of His Electrocardiography Females Homo sapiens Male Middle Aged Tachycardia Wolff-Parkinson-White Syndrome
3
(4.0%)		 4074578
 [An autopsy case of Prader-Labhart-Willi syndrome].
Hattori S, Mochio S, Kageyama A, Nakajima T, Akima M, Fukunaga N.
No To Shinkei. 1985;37(11):1059-66.
Renal insufficiency
Adult Aging Brain Complications of Diabetes Mellitus Demyelinating Diseases Homo sapiens Male Medulla Oblongata Prader-Willi Syndrome
3
(4.0%)		 2531862
 Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome.
Ryan CA, Boyle MH, Burggraf GW.
Pediatr Cardiol. 1989;10(4):225-8.
Cardiomegaly
Beckwith-Wiedemann Syndrome Cardiomegaly Echocardiography, Doppler Electrocardiography Females Follow-Up Studies Homo sapiens Hyperinsulinism Hypertrophic Cardiomyopathy Hypoglycemia Infant, Newborn
        

Phenotype(s) retrieved from Orphanet

    Total: 25

HPO ID Term Frequency
HP:0000176 Submucous cleft hard palate Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000455 Broad nasal tip Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001061 Acne Very frequent (99-80%)
HP:0001137 Alternating esotropia Very frequent (99-80%)
HP:0001257 Spasticity Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001761 Pes cavus Very frequent (99-80%)
HP:0001763 Pes planus Very frequent (99-80%)
HP:0001840 Metatarsus adductus Very frequent (99-80%)
HP:0002069 Generalized tonic-clonic seizures Very frequent (99-80%)
HP:0002967 Cubitus valgus Very frequent (99-80%)
HP:0002986 Radial bowing Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003042 Elbow dislocation Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006293 Agenesis of maxillary central incisor Very frequent (99-80%)
HP:0010809 Broad uvula Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)
HP:0012385 Camptodactyly Very frequent (99-80%)
HP:0030084 Clinodactyly Very frequent (99-80%)
HP:0100037 Abnormality of the scalp hair Very frequent (99-80%)
HP:0100268 Upper lip pit Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0001649 Tachycardia 2
HP:0000135 Hypogonadism 1
HP:0001279 Syncope 1
HP:0001513 Obesity 1
HP:0001638 Cardiomyopathy 1
HP:0001640 Cardiomegaly 1
HP:0001657 Prolonged QT interval 1
HP:0002089 Pulmonary hypoplasia 1
HP:0002107 Pneumothorax 1
HP:0004749 Atrial flutter 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID