MCID: TKN001
MIFTS: 26

Takenouchi-Kosaki Syndrome

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


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 and skin, and related phenotypes are inguinal hernia and thin upper lip vermilion

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

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 10.9
2 myoclonic epilepsy associated with ragged-red fibers 10.9
3 lymphoma 10.1
4 lung cancer 10.1
5 glioma 10.1
6 herpes simplex 10.0
7 bladder cancer 10.0
8 prostate cancer 10.0
9 prostatitis 10.0
10 breast cancer 9.9
11 pancreatic cancer 9.9
12 nasopharyngeal carcinoma 9.9
13 malignant glioma 9.9
14 nasopharyngitis 9.9
15 pancreatitis 9.9
16 glioblastoma 9.9
17 colorectal cancer 9.8
18 hepatocellular carcinoma 9.8
19 ovarian cancer 9.8
20 small cell cancer of the lung 9.8
21 glioma susceptibility 1 9.7
22 myositis 9.7
23 schizophrenia 9.7
24 aging 9.7
25 ovarian cancer 1 9.7
26 gastric cancer 9.7
27 human herpesvirus 8 9.7
28 angioedema 9.7
29 epilepsy 9.7
30 melanoma 9.7
31 adenocarcinoma 9.7
32 glioblastoma multiforme 9.7
33 astrocytoma 9.7
34 gliosarcoma 9.7
35 thymoma 9.7
36 teratocarcinoma 9.7
37 mood disorder 9.7
38 fibrosarcoma 9.7
39 pleomorphic adenoma 9.7
40 adenoma 9.7
41 myositis ossificans 9.7
42 thyroiditis 9.7
43 neuronitis 9.7
44 oral cancer 9.7
45 endotheliitis 9.7

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 all 19)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 32 occasional (7.5%) HP:0000023
2 thin upper lip vermilion 32 very rare (1%) HP:0000219
3 progressive microcephaly 32 very rare (1%) HP:0000253
4 short philtrum 32 very rare (1%) HP:0000322
5 sensorineural hearing impairment 32 very rare (1%) HP:0000407
6 ptosis 32 very rare (1%) HP:0000508
7 exotropia 32 very rare (1%) HP:0000577
8 dental malocclusion 32 very rare (1%) HP:0000689
9 lymphedema 32 very rare (1%) HP:0001004
10 ataxia 32 very rare (1%) HP:0001251
11 global developmental delay 32 very rare (1%) HP:0001263
12 cerebellar atrophy 32 very rare (1%) HP:0001272
13 patent ductus arteriosus 32 very rare (1%) HP:0001643
14 ventriculomegaly 32 very rare (1%) HP:0002119
15 highly arched eyebrow 32 very rare (1%) HP:0002553
16 eversion of lateral third of lower eyelids 32 very rare (1%) HP:0007655
17 midface retrusion 32 very rare (1%) HP:0011800
18 increased mean platelet volume 32 very rare (1%) HP:0011877
19 camptodactyly 32 very rare (1%) HP:0012385

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

Publications for Takenouchi-Kosaki Syndrome

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 GRCh37 Chromosome 1, 22412995: 22412995
8 CDC42 NM_001791.3(CDC42): c.242G> T (p.Cys81Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 22086502: 22086502
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 GRCh37 Chromosome 1, 22417945: 22417945
12 CDC42 NM_001791.3(CDC42): c.511G> A (p.Glu171Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 22091452: 22091452

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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