Takenouchi-kosaki syndrome

Preferred Label : Takenouchi-kosaki syndrome;

Symbol : TKS;

CISMeF acronym : TKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrothrombocytopenia and mental retardation syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cell division cycle 42 gene (CDC42, 116952.0001);

Prefixed ID : #616737;

Details

Origin ID

616737;

UMLS CUI

C4225222;

Currated CISMeF NLP mapping
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) [SNOMED CT concept]
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [ORDO Disease]
Genes related to phenotype
- Cell division cycle 42 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal cerebral white matter morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal periventricular white matter morphology [HPO term]
- Abnormal sternum morphology [HPO term]
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bulbous nose [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Eversion of lateral third of lower eyelids [HPO term]
- Exotropia [HPO term]
- Flared nostrils [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Immunodeficiency [HPO term]
- Increased mean platelet volume [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Lymphedema [HPO term]
- Midface retrusion [HPO term]
- Narrow forehead [HPO term]
- Nevus [HPO term]
- Optic atrophy [HPO term]
- Overlapping toe [HPO term]
- Patent ductus arteriosus [HPO term]
- Posteriorly rotated ears [HPO term]
- Progressive microcephaly [HPO term]
- Prominent forehead [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short philtrum [HPO term]
- Smooth philtrum [HPO term]
- Sparse eyebrow [HPO term]
- Synophrys [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Thrombocytopenia [HPO term]
- Unilateral renal agenesis [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventriculomegaly [HPO term]
- Webbed neck [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) [SNOMED CT concept]
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome [ORDO Disease]

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