MCID: ZTT001
MIFTS: 25

Zttk Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Mental diseases

Aliases & Classifications for Zttk Syndrome

MalaCards integrated aliases for Zttk Syndrome:

Name: Zttk Syndrome 57 53 37 29 6
Zhu-Tokita-Takenouchi-Kim Syndrome 57 53
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome 59
Zttk Multiple Congenital Anomalies-Mental Retardation Syndrome 57
Zttks 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features
mutations occur de novo


HPO:

32
zttk syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Zttk Syndrome

OMIM : 57 ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016). (617140)

MalaCards based summary : Zttk Syndrome, is also known as zhu-tokita-takenouchi-kim syndrome. An important gene associated with Zttk Syndrome is SON (SON DNA Binding Protein). Affiliated tissues include brain, eye and heart, and related phenotypes are horseshoe kidney and narrow mouth

Wikipedia : 76 ZTTK Syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic... more...

Related Diseases for Zttk Syndrome

Symptoms & Phenotypes for Zttk Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Neurologic Central Nervous System:
intellectual disability
developmental regression
cerebellar hypoplasia
hypotonia
enlarged ventricles
more
Skeletal Spine:
scoliosis
kyphosis
hemivertebrae

Head And Neck Eyes:
optic atrophy
strabismus
cortical visual impairment
hypermetropia
downslanting palpebral fissures
more
Head And Neck Mouth:
cleft palate
high-arched palate
small mouth
thin upper lip

Genitourinary Kidneys:
horseshoe kidney
single kidney
dysplastic kidney

Skeletal Skull:
craniosynostosis

Muscle Soft Tissue:
hypotonia

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Skeletal Feet:
small feet

Immunology:
decreased immunoglobulin levels (in some patients)

Head And Neck Face:
frontal bossing
short philtrum
facial asymmetry
midface retraction

Growth Other:
failure to thrive
poor overall growth

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal malformations (in some patients)

Skeletal:
joint hypermobility
joint contractures

Cardiovascular Heart:
congenital heart defects (in some patients)

Head And Neck Teeth:
dental abnormalities

Skeletal Hands:
small hands

Genitourinary:
urogenital malformations (in some patients)


Clinical features from OMIM:

617140

Human phenotypes related to Zttk Syndrome:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 horseshoe kidney 32 HP:0000085
2 narrow mouth 32 HP:0000160
3 abnormality of the dentition 32 HP:0000164
4 cleft palate 32 HP:0000175
5 high palate 32 HP:0000218
6 thin upper lip vermilion 32 HP:0000219
7 short philtrum 32 HP:0000322
8 facial asymmetry 32 HP:0000324
9 low-set ears 32 HP:0000369
10 wide nasal bridge 32 HP:0000431
11 strabismus 32 HP:0000486
12 deeply set eye 32 HP:0000490
13 downslanted palpebral fissures 32 HP:0000494
14 hypermetropia 32 HP:0000540
15 optic atrophy 32 HP:0000648
16 abnormality of the ribs 32 HP:0000772
17 intellectual disability 32 HP:0001249
18 seizures 32 occasional (7.5%) HP:0001250
19 global developmental delay 32 HP:0001263
20 generalized hypotonia 32 HP:0001290
21 cerebellar hypoplasia 32 HP:0001321
22 craniosynostosis 32 HP:0001363
23 flexion contracture 32 HP:0001371
24 joint hypermobility 32 HP:0001382
25 failure to thrive 32 HP:0001508
26 short foot 32 HP:0001773
27 frontal bossing 32 HP:0002007
28 hypoplasia of the corpus callosum 32 HP:0002079
29 ventriculomegaly 32 HP:0002119
30 developmental regression 32 HP:0002376
31 scoliosis 32 HP:0002650
32 kyphosis 32 HP:0002808
33 hemivertebrae 32 HP:0002937
34 short stature 32 HP:0004322
35 depressed nasal bridge 32 HP:0005280
36 feeding difficulties 32 HP:0011968
37 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
38 arachnoid cyst 32 HP:0100702
39 cortical visual impairment 32 HP:0100704
40 small hand 32 HP:0200055

Drugs & Therapeutics for Zttk Syndrome

Search Clinical Trials , NIH Clinical Center for Zttk Syndrome

Genetic Tests for Zttk Syndrome

Genetic tests related to Zttk Syndrome:

# Genetic test Affiliating Genes
1 Zttk Syndrome 29 SON

Anatomical Context for Zttk Syndrome

MalaCards organs/tissues related to Zttk Syndrome:

41
Brain, Eye, Heart, Kidney

Publications for Zttk Syndrome

Variations for Zttk Syndrome

ClinVar genetic disease variations for Zttk Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 SON NM_138927.2(SON): c.286C> T (p.Gln96Ter) single nucleotide variant Likely pathogenic rs886039777 GRCh37 Chromosome 21, 34921823: 34921823
2 SON NM_138927.2(SON): c.286C> T (p.Gln96Ter) single nucleotide variant Likely pathogenic rs886039777 GRCh38 Chromosome 21, 33549517: 33549517
3 SON NM_138927.2(SON): c.3073dupA (p.Met1025Asnfs) duplication Likely pathogenic rs886039778 GRCh38 Chromosome 21, 33552304: 33552304
4 SON NM_138927.2(SON): c.3073dupA (p.Met1025Asnfs) duplication Likely pathogenic rs886039778 GRCh37 Chromosome 21, 34924610: 34924610
5 SON NM_138927.2(SON): c.5753_5756delTTAG (p.Val1918Glufs) deletion Pathogenic/Likely pathogenic rs886039773 GRCh37 Chromosome 21, 34927290: 34927293
6 SON NM_138927.2(SON): c.5753_5756delTTAG (p.Val1918Glufs) deletion Pathogenic/Likely pathogenic rs886039773 GRCh38 Chromosome 21, 33554984: 33554987
7 SON NM_138927.2(SON): c.6233delC (p.Pro2078Hisfs) deletion Likely pathogenic rs886039779 GRCh37 Chromosome 21, 34929534: 34929534
8 SON NM_138927.2(SON): c.6233delC (p.Pro2078Hisfs) deletion Likely pathogenic rs886039779 GRCh38 Chromosome 21, 33557228: 33557228
9 SON NM_138927.2(SON): c.5549_5550delGA (p.Arg1850Ilefs) deletion Pathogenic rs886039774 GRCh38 Chromosome 21, 33554780: 33554781
10 SON NM_138927.2(SON): c.5549_5550delGA (p.Arg1850Ilefs) deletion Pathogenic rs886039774 GRCh37 Chromosome 21, 34927086: 34927087
11 SON NM_138927.2(SON): c.6002_6003insCC (p.Arg2002Glnfs) insertion Pathogenic rs886039775 GRCh37 Chromosome 21, 34927539: 34927540
12 SON NM_138927.2(SON): c.6002_6003insCC (p.Arg2002Glnfs) insertion Pathogenic rs886039775 GRCh38 Chromosome 21, 33555233: 33555234
13 SON NM_138927.2(SON): c.4640delA (p.His1547Leufs) deletion Pathogenic rs886039776 GRCh38 Chromosome 21, 33553871: 33553871
14 SON NM_138927.2(SON): c.4640delA (p.His1547Leufs) deletion Pathogenic rs886039776 GRCh37 Chromosome 21, 34926177: 34926177

Expression for Zttk Syndrome

Search GEO for disease gene expression data for Zttk Syndrome.

Pathways for Zttk Syndrome

GO Terms for Zttk Syndrome

Sources for Zttk Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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