Disease #05221 (TKS (Takenouchi-Kosaki syndrome (TKS)), OMIM:616737)

Official abbreviation TKS
Name Takenouchi-Kosaki syndrome (TKS)
OMIM ID 616737
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene CDC42
Associated tissues -
Disease features -
Remarks -
Date created 2017-02-10 15:40:18 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00100300 patient PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan Japanese; Iranian - - - - TKS see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; no inflammation; Eczema, inguinal hernia CDC42 CDC42 1 1 Johan den Dunnen
00100301 patient PubMed: Takenouchi 2016, Journal: Takenouchi 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - TKS see paper; ..., macrothrombocytopenia, developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; lymph edema; no cardio-vascular anomalies; thrombocytopenia; no recurrent infections; lymphopenia; no inflammation; retinal dysplasia, intestinal lymphangiectasia CDC42 CDC42 1 1 Johan den Dunnen
00100305 patient PubMed: Motokawa 2018 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - - - - TKS see paper; ...,developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; hypothyroidism; no lymph edema; no cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; no inflammation; hypogammaglobulinemia CDC42 CDC42 1 1 Johan den Dunnen
00303516 patient PubMed: Uehara 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - TKS see paper; ..., developmental delay; structural brain anomalies; sensorineural deafness; no camptodactily; hypothyroidism; no lymph edema; thrombocytopenia; no recurrent infections CDC42 CDC42 1 1 Johan den Dunnen
00303517 patient PubMed: Bucciol 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Belgium - 26y - - - TKS see paper; 26y-died; ..., developmental delay; structural brain anomalies; growth retardation; facial dysmorphism; sensorineural deafness; camptodactily; no hypothyroidism; no lymph edema; cardio-vascular anomalies; thrombocytopenia; recurrent infections; lymphopenia; inflammation; liver hemangiomas, hepatosplenomegaly, spleen and kidney nodules, aortic aneurysm, scoliosis, lung hemorrhages CDC42 CDC42 1 1 Johan den Dunnen
00471016 356816 - - M no Germany - - - - - CRS3, TKS Craniosynostosis, Hypertelorism, Joint contracture, Arachnodactyly, Patent ductus arteriosus, Microcephaly, Penile hypospadias, Brachyturricephaly, Abnormality of the face, High palate, Abnormality of the outer ear, Pectus excavatum, Sacral dimple, Talipes equinovarus, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Inguinal hernia CDC42, TCF12 CDC42, TCF12 2 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.