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

MCID: ZTT001 MIFTS: 25	Zttk Syndrome Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Mental diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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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:

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 14582003 more

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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...

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Related Diseases for Zttk Syndrome

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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

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Drugs & Therapeutics for Zttk Syndrome

Search Clinical Trials , NIH Clinical Center for Zttk Syndrome

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Genetic Tests for Zttk Syndrome

Genetic tests related to Zttk Syndrome:

#	Genetic test	Affiliating Genes
1	Zttk Syndrome ²⁹	SON

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Anatomical Context for Zttk Syndrome

MalaCards organs/tissues related to Zttk Syndrome:

⁴¹

Brain, Eye, Heart, Kidney

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Publications for Zttk Syndrome

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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	1402.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27545680 27545676 25590979 (more) 27256762
2	MIR6501	MicroRNA 6501	RNA Gene	7.15	GeneCards inferred via : Variants (show sections)

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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

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Expression for Zttk Syndrome

Search GEO for disease gene expression data for Zttk Syndrome.

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Pathways for Zttk Syndrome

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GO Terms for Zttk Syndrome

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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

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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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