Zttk Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ZTTKS MCID: ZTT001 MIFTS: 26	Zttk Syndrome (ZTTKS) Categories: Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Zttk Syndrome

MalaCards integrated aliases for Zttk Syndrome:

Name: Zttk Syndrome ⁵⁷ ⁵³ ³⁷ ²⁹ ⁶

Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome ⁵³ ⁵⁹

Zhu-Tokita-Takenouchi-Kim Syndrome ⁵⁷ ⁵³

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 617140

Orphanet ⁵⁹ ORPHA500150

MedGen ⁴² C4310696

KEGG ³⁷ H01769

SNOMED-CT via HPO ⁶⁹ 263681008 41729002 55726006 more

Sources

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 brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability 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 low-set ears and frontal bossing

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

Sources

Related Diseases for Zttk Syndrome

Sources

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 41)

#	Description	HPO Frequency	HPO Source Accession
1	low-set ears ³²		HP:0000369
2	frontal bossing ³²		HP:0002007
3	high palate ³²		HP:0000218
4	intellectual disability ³²		HP:0001249
5	seizures ³²	occasional (7.5%)	HP:0001250
6	failure to thrive ³²		HP:0001508
7	developmental regression ³²		HP:0002376
8	scoliosis ³²		HP:0002650
9	kyphosis ³²		HP:0002808
10	global developmental delay ³²		HP:0001263
11	depressed nasal bridge ³²		HP:0005280
12	abnormality of the dentition ³²		HP:0000164
13	wide nasal bridge ³²		HP:0000431
14	optic atrophy ³²		HP:0000648
15	short stature ³²		HP:0004322
16	flexion contracture ³²		HP:0001371
17	cleft palate ³²		HP:0000175
18	feeding difficulties ³²		HP:0011968
19	strabismus ³²		HP:0000486
20	short foot ³²		HP:0001773
21	horseshoe kidney ³²		HP:0000085
22	ventriculomegaly ³²		HP:0002119
23	cerebellar hypoplasia ³²		HP:0001321
24	short philtrum ³²		HP:0000322
25	deeply set eye ³²		HP:0000490
26	small hand ³²		HP:0200055
27	joint hypermobility ³²		HP:0001382
28	downslanted palpebral fissures ³²		HP:0000494
29	narrow mouth ³²		HP:0000160
30	thin upper lip vermilion ³²		HP:0000219
31	abnormality of the ribs ³²		HP:0000772
32	craniosynostosis ³²		HP:0001363
33	hemivertebrae ³²		HP:0002937
34	facial asymmetry ³²		HP:0000324
35	generalized hypotonia ³²		HP:0001290
36	abnormality of cardiovascular system morphology ³²	occasional (7.5%)	HP:0030680
37	hypoplasia of the corpus callosum ³²		HP:0002079
38	unilateral renal agenesis ³²		HP:0000122
39	arachnoid cyst ³²		HP:0100702
40	hypermetropia ³²		HP:0000540
41	cerebral visual impairment ³²		HP:0100704

Sources

Drugs & Therapeutics for Zttk Syndrome

Search Clinical Trials , NIH Clinical Center for Zttk Syndrome

Sources

Genetic Tests for Zttk Syndrome

Genetic tests related to Zttk Syndrome:

#	Genetic test	Affiliating Genes
1	Zttk Syndrome ²⁹	SON

Sources

Anatomical Context for Zttk Syndrome

MalaCards organs/tissues related to Zttk Syndrome:

⁴¹

Brain, Eye, Heart, Kidney

Sources

Publications for Zttk Syndrome

Sources

Genes for Zttk Syndrome

Genes related to Zttk Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SON	SON DNA Binding Protein	Protein Coding	1377.31	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27545676 25590979 27256762 (more) 27545680
2	MIR6501	MicroRNA 6501	RNA Gene	7.07	GeneCards inferred via : Variants (show sections)

Sources

Variations for Zttk Syndrome

ClinVar genetic disease variations for Zttk Syndrome:

⁶ (show all 16)

#	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
15	SON	NM_138927.2(SON): c.3556C> T (p.Gln1186Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 21, 33552787: 33552787
16	SON	NM_138927.2(SON): c.3556C> T (p.Gln1186Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 21, 34925093: 34925093

Sources

Expression for Zttk Syndrome

Search GEO for disease gene expression data for Zttk Syndrome.

Sources

Pathways for Zttk Syndrome

Sources

GO Terms for Zttk Syndrome

Sources

Sources for Zttk Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Zttk Syndrome (ZTTKS)

Aliases & Classifications for Zttk Syndrome

MalaCards integrated aliases for Zttk Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Zttk Syndrome

Related Diseases for Zttk Syndrome

Symptoms & Phenotypes for Zttk Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Zttk Syndrome:

Drugs & Therapeutics for Zttk Syndrome

Genetic Tests for Zttk Syndrome

Genetic tests related to Zttk Syndrome:

Anatomical Context for Zttk Syndrome

MalaCards organs/tissues related to Zttk Syndrome:

Publications for Zttk Syndrome

Genes for Zttk Syndrome

Genes related to Zttk Syndrome (1 elite genes):

Variations for Zttk Syndrome

ClinVar genetic disease variations for Zttk Syndrome:

Expression for Zttk Syndrome

Pathways for Zttk Syndrome

GO Terms for Zttk Syndrome

Sources for Zttk Syndrome