TKS
MCID: TKN001
MIFTS: 31

Takenouchi-Kosaki Syndrome (TKS)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Takenouchi-Kosaki Syndrome

MalaCards integrated aliases for Takenouchi-Kosaki Syndrome:

Name: Takenouchi-Kosaki Syndrome 57 59 75 6 40
Macrothrombocytopenia and Mental Retardation Syndrome 57 75
Tks 57 75
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation (in most patients)


HPO:

32
takenouchi-kosaki syndrome:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Takenouchi-Kosaki Syndrome

OMIM : 57 Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018). (616737)

MalaCards based summary : Takenouchi-Kosaki Syndrome, also known as macrothrombocytopenia and mental retardation syndrome, is related to diabetes and deafness, maternally inherited and myoclonic epilepsy associated with ragged-red fibers. An important gene associated with Takenouchi-Kosaki Syndrome is CDC42 (Cell Division Cycle 42). Affiliated tissues include brain, skin and lung, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Takenouchi-Kosaki syndrome: A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features.

Related Diseases for Takenouchi-Kosaki Syndrome

Graphical network of the top 20 diseases related to Takenouchi-Kosaki Syndrome:



Diseases related to Takenouchi-Kosaki Syndrome

Symptoms & Phenotypes for Takenouchi-Kosaki Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
optic atrophy
strabismus
synophrys
more
Skeletal Hands:
clinodactyly
camptodactyly
proximally placed thumbs
tapered fingers

Skeletal Spine:
scoliosis

Head And Neck Teeth:
widely spaced teeth
malocclusion

Head And Neck Face:
smooth philtrum
long philtrum
short philtrum
midface hypoplasia
bitemporal narrowing
more
Immunology:
immunodeficiency
recurrent infections

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias

Head And Neck Mouth:
wide mouth
thin upper lip
downturned corners of the mouth

Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral disorders
attention-deficit

Growth Other:
poor postnatal growth

Cardiovascular Vascular:
pulmonary stenosis

Skeletal:
contractures

Head And Neck Ears:
low-set ears
hearing impairment
posteriorly rotated ears

Neurologic Central Nervous System:
intellectual disability
cerebellar hypoplasia
enlarged ventricles
cortical atrophy
delayed psychomotor development
more
Muscle Soft Tissue:
inguinal hernia
lymphedema
hypotonia

Head And Neck Nose:
wide nasal bridge
flared nostrils
bulbous nasal tip

Head And Neck Head:
prominent forehead
microcephaly (in some patients)

Cardiovascular Heart:
patent ductus arteriosus
septal defects
cardiac defects

Head And Neck Neck:
webbed neck

Genitourinary Kidneys:
hydronephrosis
unilateral renal agenesis

Skeletal Feet:
overlapping toes

Hematology:
thrombocytopenia (in some patients)
enlarged platelets (in some patients)

Skin Nails Hair Skin:
nevi
pigmentary abnormalities

Chest External Features:
pectus deformities


Clinical features from OMIM:

616737

Human phenotypes related to Takenouchi-Kosaki Syndrome:

32 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 clinodactyly 32 HP:0030084
4 ptosis 32 very rare (1%) HP:0000508
5 intellectual disability 32 HP:0001249
6 seizures 32 very rare (1%) HP:0001250
7 ataxia 32 very rare (1%) HP:0001251
8 inguinal hernia 32 occasional (7.5%) HP:0000023
9 widely spaced teeth 32 HP:0000687
10 dental malocclusion 32 very rare (1%) HP:0000689
11 behavioral abnormality 32 HP:0000708
12 global developmental delay 32 very rare (1%) HP:0001263
13 wide nasal bridge 32 HP:0000431
14 abnormal facial shape 32 HP:0001999
15 smooth philtrum 32 HP:0000319
16 sensorineural hearing impairment 32 very rare (1%) HP:0000407
17 optic atrophy 32 HP:0000648
18 prominent forehead 32 HP:0011220
19 immunodeficiency 32 HP:0002721
20 long philtrum 32 HP:0000343
21 patent ductus arteriosus 32 very rare (1%) HP:0001643
22 absent speech 32 HP:0001344
23 cryptorchidism 32 HP:0000028
24 lymphedema 32 very rare (1%) HP:0001004
25 nevus 32 HP:0003764
26 thrombocytopenia 32 very rare (1%) HP:0001873
27 ventriculomegaly 32 very rare (1%) HP:0002119
28 cerebral cortical atrophy 32 HP:0002120
29 cerebellar hypoplasia 32 HP:0001321
30 wide mouth 32 HP:0000154
31 short philtrum 32 very rare (1%) HP:0000322
32 hypospadias 32 HP:0000047
33 downslanted palpebral fissures 32 HP:0000494
34 upslanted palpebral fissure 32 HP:0000582
35 downturned corners of mouth 32 HP:0002714
36 bulbous nose 32 HP:0000414
37 recurrent infections 32 HP:0002719
38 thin upper lip vermilion 32 very rare (1%) HP:0000219
39 midface retrusion 32 very rare (1%) HP:0011800
40 highly arched eyebrow 32 very rare (1%) HP:0002553
41 synophrys 32 HP:0000664
42 proximal placement of thumb 32 HP:0009623
43 hydronephrosis 32 HP:0000126
44 cerebellar atrophy 32 very rare (1%) HP:0001272
45 tapered finger 32 HP:0001182
46 generalized hypotonia 32 HP:0001290
47 hypoplasia of the corpus callosum 32 HP:0002079
48 unilateral renal agenesis 32 HP:0000122
49 sparse eyebrow 32 HP:0045075
50 abnormality of the periventricular white matter 32 HP:0002518

Drugs & Therapeutics for Takenouchi-Kosaki Syndrome

Search Clinical Trials , NIH Clinical Center for Takenouchi-Kosaki Syndrome

Genetic Tests for Takenouchi-Kosaki Syndrome

Anatomical Context for Takenouchi-Kosaki Syndrome

MalaCards organs/tissues related to Takenouchi-Kosaki Syndrome:

41
Brain, Skin, Lung, Kidney, Liver, Prostate

Publications for Takenouchi-Kosaki Syndrome

Articles related to Takenouchi-Kosaki Syndrome:

# Title Authors Year
1
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome. ( 29335451 )
2018

Variations for Takenouchi-Kosaki Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Takenouchi-Kosaki Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 CDC42 p.Tyr64Cys VAR_076337 rs864309721

ClinVar genetic disease variations for Takenouchi-Kosaki Syndrome:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC42 NM_001039802.1(CDC42): c.196A> G (p.Arg66Gly) single nucleotide variant Pathogenic rs797044870 GRCh37 Chromosome 1, 22412949: 22412949
2 CDC42 NM_001039802.1(CDC42): c.196A> G (p.Arg66Gly) single nucleotide variant Pathogenic rs797044870 GRCh38 Chromosome 1, 22086456: 22086456
3 CDC42 NM_001791.3(CDC42): c.191A> G (p.Tyr64Cys) single nucleotide variant Pathogenic/Likely pathogenic rs864309721 GRCh37 Chromosome 1, 22412944: 22412944
4 CDC42 NM_001791.3(CDC42): c.191A> G (p.Tyr64Cys) single nucleotide variant Pathogenic/Likely pathogenic rs864309721 GRCh38 Chromosome 1, 22086451: 22086451
5 CDC42 NM_001791.3(CDC42): c.62T> C (p.Ile21Thr) single nucleotide variant Likely pathogenic rs1064795845 GRCh38 Chromosome 1, 22078540: 22078540
6 CDC42 NM_001791.3(CDC42): c.62T> C (p.Ile21Thr) single nucleotide variant Likely pathogenic rs1064795845 GRCh37 Chromosome 1, 22405033: 22405033
7 CDC42 NM_001791.3(CDC42): c.242G> T (p.Cys81Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 22086502: 22086502
8 CDC42 NM_001791.3(CDC42): c.242G> T (p.Cys81Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 22412995: 22412995
9 CDC42 NM_001791.3(CDC42): c.247T> C (p.Ser83Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 22086507: 22086507
10 CDC42 NM_001791.3(CDC42): c.247T> C (p.Ser83Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 22413000: 22413000
11 CDC42 NM_001791.3(CDC42): c.511G> A (p.Glu171Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 22091452: 22091452
12 CDC42 NM_001791.3(CDC42): c.511G> A (p.Glu171Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 22417945: 22417945

Expression for Takenouchi-Kosaki Syndrome

Search GEO for disease gene expression data for Takenouchi-Kosaki Syndrome.

Pathways for Takenouchi-Kosaki Syndrome

GO Terms for Takenouchi-Kosaki Syndrome

Sources for Takenouchi-Kosaki Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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32 HPO
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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