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 5
Phenotype entries for this disease 5
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

5 entries on 1 page. Showing entries 1 - 5.
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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
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