TKS
MCID: TKN001
MIFTS: 30

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 58 60 76 6 41
Macrothrombocytopenia and Mental Retardation Syndrome 58 76
Tks 58 76
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
takenouchi-kosaki syndrome:
Onset and clinical course phenotypic variability


Classifications:



Summaries for Takenouchi-Kosaki Syndrome

OMIM : 58 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 and skin, and related phenotypes are inguinal hernia and ptosis

UniProtKB/Swiss-Prot : 76 Takenouchi-Kosaki syndrome: A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features.

Related Diseases for Takenouchi-Kosaki Syndrome

Diseases related to Takenouchi-Kosaki Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 11.1
2 myoclonic epilepsy associated with ragged-red fibers 11.1
3 lymphoma 10.3
4 lung cancer 10.2
5 glioma 10.2
6 herpes simplex 10.2
7 prostate cancer 10.2
8 glioblastoma 10.2
9 bladder cancer 10.1
10 prostate cancer, hereditary, 8 10.1
11 prostate cancer, hereditary, 6 10.1
12 vaccinia 10.1
13 glioma susceptibility 1 10.1
14 malignant glioma 10.1
15 glioblastoma multiforme 10.1
16 breast cancer 10.0
17 hepatocellular carcinoma 10.0
18 ovarian cancer 10.0
19 small cell cancer of the lung 10.0
20 pancreatic cancer 10.0
21 nasopharyngeal carcinoma 10.0
22 cholangiocarcinoma 10.0
23 intrahepatic cholangiocarcinoma 10.0
24 colorectal cancer 9.9
25 ovarian cancer 1 9.9
26 infantile liver failure syndrome 1 9.9
27 acute liver failure 9.9
28 epilepsy 9.9
29 adenocarcinoma 9.9
30 esterase b 9.8
31 glaucoma, primary open angle 9.8
32 mesothelioma, malignant 9.8
33 myositis 9.8
34 retinoblastoma 9.8
35 schizophrenia 9.8
36 enterocolitis 9.8
37 osteogenic sarcoma 9.8
38 alzheimer disease 12 9.8
39 gastric cancer 9.8
40 human herpesvirus 8 9.8
41 autoinflammation with infantile enterocolitis 9.8
42 leukemia 9.8
43 brain glioma 9.8
44 open-angle glaucoma 9.8
45 angioedema 9.8
46 melanoma 9.8
47 kidney cancer 9.8
48 severe acute respiratory syndrome 9.8
49 astrocytoma 9.8
50 gliosarcoma 9.8

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



Diseases related to Takenouchi-Kosaki Syndrome

Symptoms & Phenotypes for Takenouchi-Kosaki Syndrome

Human phenotypes related to Takenouchi-Kosaki Syndrome:

33 (show top 50) (show all 59)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 33 occasional (7.5%) HP:0000023
2 ptosis 33 very rare (1%) HP:0000508
3 seizures 33 very rare (1%) HP:0001250
4 ataxia 33 very rare (1%) HP:0001251
5 dental malocclusion 33 very rare (1%) HP:0000689
6 global developmental delay 33 very rare (1%) HP:0001263
7 sensorineural hearing impairment 33 very rare (1%) HP:0000407
8 patent ductus arteriosus 33 very rare (1%) HP:0001643
9 lymphedema 33 very rare (1%) HP:0001004
10 thrombocytopenia 33 very rare (1%) HP:0001873
11 ventriculomegaly 33 very rare (1%) HP:0002119
12 short philtrum 33 very rare (1%) HP:0000322
13 thin upper lip vermilion 33 very rare (1%) HP:0000219
14 midface retrusion 33 very rare (1%) HP:0011800
15 highly arched eyebrow 33 very rare (1%) HP:0002553
16 cerebellar atrophy 33 very rare (1%) HP:0001272
17 camptodactyly 33 very rare (1%) HP:0012385
18 exotropia 33 very rare (1%) HP:0000577
19 eversion of lateral third of lower eyelids 33 very rare (1%) HP:0007655
20 progressive microcephaly 33 very rare (1%) HP:0000253
21 increased mean platelet volume 33 very rare (1%) HP:0011877
22 hypertelorism 33 HP:0000316
23 low-set ears 33 HP:0000369
24 clinodactyly 33 HP:0030084
25 intellectual disability 33 HP:0001249
26 widely spaced teeth 33 HP:0000687
27 behavioral abnormality 33 HP:0000708
28 wide nasal bridge 33 HP:0000431
29 abnormal facial shape 33 HP:0001999
30 smooth philtrum 33 HP:0000319
31 optic atrophy 33 HP:0000648
32 prominent forehead 33 HP:0011220
33 immunodeficiency 33 HP:0002721
34 long philtrum 33 HP:0000343
35 absent speech 33 HP:0001344
36 cryptorchidism 33 HP:0000028
37 nevus 33 HP:0003764
38 cerebral cortical atrophy 33 HP:0002120
39 cerebellar hypoplasia 33 HP:0001321
40 wide mouth 33 HP:0000154
41 hypospadias 33 HP:0000047
42 downslanted palpebral fissures 33 HP:0000494
43 upslanted palpebral fissure 33 HP:0000582
44 downturned corners of mouth 33 HP:0002714
45 bulbous nose 33 HP:0000414
46 recurrent infections 33 HP:0002719
47 synophrys 33 HP:0000664
48 proximal placement of thumb 33 HP:0009623
49 hydronephrosis 33 HP:0000126
50 tapered finger 33 HP:0001182

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Brain, Skin

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:

76
# 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 rs1553196100 GRCh37 Chromosome 1, 22412995: 22412995
8 CDC42 NM_001791.3(CDC42): c.242G> T (p.Cys81Phe) single nucleotide variant Likely pathogenic rs1553196100 GRCh38 Chromosome 1, 22086502: 22086502
9 CDC42 NM_001791.3(CDC42): c.247T> C (p.Ser83Pro) single nucleotide variant Pathogenic rs1553196101 GRCh38 Chromosome 1, 22086507: 22086507
10 CDC42 NM_001791.3(CDC42): c.247T> C (p.Ser83Pro) single nucleotide variant Pathogenic rs1553196101 GRCh37 Chromosome 1, 22413000: 22413000
11 CDC42 NM_001791.3(CDC42): c.511G> A (p.Glu171Lys) single nucleotide variant Pathogenic rs1553196539 GRCh38 Chromosome 1, 22091452: 22091452
12 CDC42 NM_001791.3(CDC42): c.511G> A (p.Glu171Lys) single nucleotide variant Pathogenic rs1553196539 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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