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

ZTTKS MCID: ZTT001 MIFTS: 36	Zttk Syndrome (ZTTKS) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Zttk Syndrome

MalaCards integrated aliases for Zttk Syndrome:

Name: Zttk Syndrome ⁵⁷ ²⁰ ⁵⁸ ⁷² ³⁶ ²⁹ ⁶

Zhu-Tokita-Takenouchi-Kim Syndrome ⁵⁷ ²⁰ ⁵⁸ ⁷²

Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome ²⁰ ⁵⁸

Zttk Multiple Congenital Anomalies-Mental Retardation Syndrome ⁵⁷ ⁷²

Zttks ⁵⁷ ⁷²

Syndrome, Zhu-Tokita-Takenouchi-Kim ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

Miscellaneous:
variable features
mutations occur de novo

HPO:

³¹

zttk syndrome:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 617140

KEGG ³⁶ H01769

MeSH ⁴⁴ D000015 D008607

Orphanet ⁵⁸ ORPHA500150

MedGen ⁴¹ C4310696 CN238690

SNOMED-CT via HPO ⁶⁸ 103276001 109409003 109418001 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) (Updated 05-Apr-2021)

MalaCards based summary : Zttk Syndrome, also known as zhu-tokita-takenouchi-kim syndrome, is related to duodenal atresia and gastroparesis. An important gene associated with Zttk Syndrome is SON (SON DNA And RNA Binding Protein). Affiliated tissues include cortex, brain and eye, and related phenotypes are global developmental delay and intellectual disability, severe

KEGG : ³⁶ ZTTK syndrome is an intellectual disability syndrome characterized by intellectual disability and/or developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities, and congenital malformations. Several studies have reported that deleterious variants in SON gene are associated with this disease.

UniProtKB/Swiss-Prot : ⁷² ZTTK syndrome: An autosomal dominant syndrome characterized by intellectual disability, developmental delay, malformations of the cerebral cortex, epilepsy, vision problems, musculo-skeletal abnormalities, and congenital malformations.

Wikipedia : ⁷³ 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

Diseases related to Zttk Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	duodenal atresia	10.4
2	gastroparesis	10.4
3	hypoplastic left heart syndrome	10.4
4	growth hormone deficiency	10.4
5	febrile seizures	10.4
6	alacrima, achalasia, and mental retardation syndrome	10.2
7	hypotonia	10.0

Graphical network of the top 20 diseases related to Zttk Syndrome:

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Symptoms & Phenotypes for Zttk Syndrome

Human phenotypes related to Zttk Syndrome:

⁵⁸ ³¹ (show top 50) (show all 125)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	intellectual disability, severe ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010864
3	intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001511
4	failure to thrive in infancy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001531
5	hypoplasia of the corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002079
6	autistic behavior ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000729
7	hypermetropia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000540
8	proportionate short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003508
9	infantile muscular hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008947
10	spasticity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001257
11	frontal bossing ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002007
12	nystagmus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000639
13	dysphagia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002015
14	developmental regression ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002376
15	hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000365
16	depressed nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005280
17	wide nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000431
18	short nose ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003196
19	smooth philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000319
20	optic atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000648
21	gastroesophageal reflux ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002020
22	prominent forehead ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011220
23	full cheeks ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000293
24	progressive visual loss ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000529
25	low-set ears ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000369
26	horseshoe kidney ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000085
27	epicanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000286
28	myopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000545
29	atrial septal defect ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001631
30	slender long bone ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0003100
31	kyphoscoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002751
32	emphysema ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002097
33	transient ischemic attack ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002326
34	hypoplasia of the maxilla ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000327
35	arachnodactyly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001166
36	downslanted palpebral fissures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000494
37	downturned corners of mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002714
38	facial asymmetry ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000324
39	hemivertebrae ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002937
40	protruding ear ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000411
41	deeply set eye ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000490
42	short philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000322
43	arnold-chiari malformation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002308
44	rib fusion ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000902
45	chronic diarrhea ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002028
46	thin vermilion border ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000233
47	blue sclerae ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000592
48	polymicrogyria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002126
49	respiratory failure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002878
50	bifid uvula ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000193

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
intellectual disability
developmental regression
cerebellar hypoplasia
hypotonia
enlarged ventricles
more

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

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Growth Height:
short stature

Head And Neck Ears:
low-set ears

Skeletal:
joint hypermobility
joint contractures

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

Cardiovascular Heart:
congenital heart defects (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Skeletal Feet:
small feet

Immunology:
decreased immunoglobulin levels (in some patients)

Growth Other:
failure to thrive
poor overall growth

Skeletal Spine:
scoliosis
kyphosis
hemivertebrae

Head And Neck Eyes:
optic atrophy
strabismus
hypermetropia
downslanting palpebral fissures
deep-set eyes
more

Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate
small mouth

Genitourinary Kidneys:
horseshoe kidney
single kidney
dysplastic kidney

Skeletal Skull:
craniosynostosis

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
dental abnormalities

Skeletal Hands:
small hands

Genitourinary:
urogenital malformations (in some patients)

Clinical features from OMIM®:

617140 (Updated 05-Apr-2021)

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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:

⁴⁰

Cortex, Brain, Eye, Kidney, Heart, Bone, Lung

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Publications for Zttk Syndrome

Articles related to Zttk Syndrome:

#	Title	Authors	PMID	Year
1	Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype. ⁶ ⁵⁷	Takenouchi T...Kosaki K	27256762	2016
2	De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. ⁵⁷ ⁶	Tokita MJ...Walkiewicz MA	27545676	2016
3	De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. ⁵⁷ ⁶	Kim JH...Ahn EYE	27545680	2016
4	Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. ⁵⁷ ⁶	Zhu X...Goldstein DB	25590979	2015
5	A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome. ⁶¹	Yang L...Yang F	32926520	2020
6	Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. ⁶¹	Slezak R...Ploski R	32705777	2020
7	A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome. ⁶¹	Tan Y...Lin L	32291808	2020
8	Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities. ⁶¹	Ueda M...Nakayama A	32448361	2020
9	Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. ⁶¹	Quintana Castanedo L...de Lucas Laguna R	32045494	2020
10	Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T. ⁶¹	Yang Y...Yang L	31557424	2019

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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	PubMed IDs
1	SON	SON DNA And RNA Binding Protein	Protein Coding	1392.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27545676 27545680 27256762
2	MIR6501	MicroRNA 6501	RNA Gene	6.76	GeneCards inferred via : Variants (show sections)

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Variations for Zttk Syndrome

ClinVar genetic disease variations for Zttk Syndrome:

⁶ (show top 50) (show all 54)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SON	NM_138927.3(SON):c.3556C>T (p.Gln1186Ter)	SNV	Pathogenic	548026	rs1275312464	GRCh37: 21:34925093-34925093 GRCh38: 21:33552787-33552787
2	SON	NM_001291412.2(SON):c.245-4852dup	Duplication	Pathogenic	252927	rs886039778	GRCh37: 21:34924609-34924610 GRCh38: 21:33552303-33552304
3	SON	NM_032195.2(SON):c.6233del (p.Pro2078fs)	Deletion	Pathogenic	252930	rs886039779	GRCh37: 21:34929533-34929533 GRCh38: 21:33557227-33557227
4	SON	NM_138927.3(SON):c.3334C>T (p.Arg1112Ter)	SNV	Pathogenic	423520	rs1064796472	GRCh37: 21:34924871-34924871 GRCh38: 21:33552565-33552565
5	SON	NM_138927.3(SON):c.5753_5756del (p.Val1918fs)	Deletion	Pathogenic	252929	rs886039773	GRCh37: 21:34927288-34927291 GRCh38: 21:33554982-33554985
6	SON	NM_001291412.2(SON):c.244+3236del	Deletion	Pathogenic	631519	rs778418096	GRCh37: 21:34921914-34921914 GRCh38: 21:33549608-33549608
7	SON	NM_001291412.2(SON):c.245-5006dup	Duplication	Pathogenic	803629	rs1601263223	GRCh37: 21:34924455-34924456 GRCh38: 21:33552149-33552150
8	SON	NM_138927.4(SON):c.6920G>A (p.Gly2307Glu)	SNV	Pathogenic	827763	rs1601299278	GRCh37: 21:34945648-34945648 GRCh38: 21:33573342-33573342
9	SON	NM_138927.3(SON):c.286C>T (p.Gln96Ter)	SNV	Pathogenic	252926	rs886039777	GRCh37: 21:34921823-34921823 GRCh38: 21:33549517-33549517
10	SON	NM_032195.2(SON):c.6022C>T (p.Arg2008Ter)	SNV	Pathogenic	453018	rs1555899560	GRCh37: 21:34927559-34927559 GRCh38: 21:33555253-33555253
11	SON	NM_138927.4(SON):c.6321+1G>A	SNV	Pathogenic	973267		GRCh37: 21:34929623-34929623 GRCh38: 21:33557317-33557317
12	SON	NM_138927.4(SON):c.5533delinsACG (p.Ser1845fs)	Indel	Pathogenic	988008		GRCh37: 21:34927070-34927070 GRCh38: 21:33554764-33554764
13	SON	NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs)	Insertion	Pathogenic/Likely pathogenic	265775	rs886039775	GRCh37: 21:34927538-34927539 GRCh38: 21:33555232-33555233
14	SON	NM_001291412.2(SON):c.245-2376_245-2375del	Microsatellite	Pathogenic/Likely pathogenic	265774	rs886039774	GRCh37: 21:34927083-34927084 GRCh38: 21:33554777-33554778
15	SON	NM_001291412.2(SON):c.245-3285del	Deletion	Pathogenic/Likely pathogenic	265776	rs886039776	GRCh37: 21:34926177-34926177 GRCh38: 21:33553871-33553871
16	SON	NM_138927.3(SON):c.268del (p.Ser90fs)	Deletion	Likely pathogenic	617867	rs1569050345	GRCh37: 21:34921801-34921801 GRCh38: 21:33549495-33549495
17	SON	NM_138927.3(SON):c.4055del (p.Pro1352fs)	Deletion	Likely pathogenic	617868	rs1569056484	GRCh37: 21:34925589-34925589 GRCh38: 21:33553283-33553283
18	SON	NM_138927.3(SON):c.4549dup (p.Glu1517fs)	Duplication	Likely pathogenic	617869	rs1569057333	GRCh37: 21:34926084-34926085 GRCh38: 21:33553778-33553779
19	SON	NM_138927.3(SON):c.1881_1882del (p.Val629fs)	Deletion	Likely pathogenic	617860	rs1569053308	GRCh37: 21:34923418-34923419 GRCh38: 21:33551112-33551113
20	SON	NM_001291412.2(SON):c.245-4073_245-4069del	Deletion	Likely pathogenic	252928	rs1114167303	GRCh37: 21:34925385-34925389 GRCh38: 21:33553079-33553083
21	SON	NM_138927.3(SON):c.4999_5013del (p.Asp1667_Asn1671del)	Deletion	Likely pathogenic	617861	rs1569058041	GRCh37: 21:34926535-34926549 GRCh38: 21:33554229-33554243
22	SON and overlap with 1 gene(s)	NM_138927.4(SON):c.1002_5016del (p.Glu335fs)	Deletion	Likely pathogenic	617862		GRCh37: 21:34922536-34926550 GRCh38: 21:33550230-33554244
23	SON	NM_001291412.2(SON):c.245-3567_245-3566del	Microsatellite	Likely pathogenic	617863	rs1601268952	GRCh37: 21:34925893-34925894 GRCh38: 21:33553587-33553588
24	SON	NM_138927.3(SON):c.6087del (p.Ser2029fs)	Deletion	Likely pathogenic	617864	rs1569059792	GRCh37: 21:34927624-34927624 GRCh38: 21:33555318-33555318
25	SON	NM_138927.3(SON):c.3597_3598dup (p.Pro1200fs)	Duplication	Likely pathogenic	617865	rs1569055781	GRCh37: 21:34925133-34925134 GRCh38: 21:33552827-33552828
26	SON	NM_138927.3(SON):c.4151_4174del (p.Leu1384_Val1391del)	Deletion	Likely pathogenic	617866	rs769691894	GRCh37: 21:34925681-34925704 GRCh38: 21:33553375-33553398
27	SON	NM_001291412.2(SON):c.244+5217del	Deletion	Likely pathogenic	440941	rs1555898531	GRCh37: 21:34923902-34923902 GRCh38: 21:33551596-33551596
28	SON	NM_138927.4(SON):c.1658del (p.Val553fs)	Deletion	Likely pathogenic	869477		GRCh37: 21:34923195-34923195 GRCh38: 21:33550889-33550889
29	SON	NM_138927.4(SON):c.245-485_273delinsGTTG	Indel	Likely pathogenic	996849		GRCh37: 21:34921297-34921810 GRCh38: 21:33548991-33549504
30	SON	NM_138927.4(SON):c.7091T>C (p.Met2364Thr)	SNV	Uncertain significance	992444		GRCh37: 21:34947959-34947959 GRCh38: 21:33575653-33575653
31	SON	NM_138927.4(SON):c.2191A>G (p.Met731Val)	SNV	Uncertain significance	976349		GRCh37: 21:34923728-34923728 GRCh38: 21:33551422-33551422
32	SON	NM_138927.4(SON):c.490G>A (p.Ala164Thr)	SNV	Uncertain significance	873535		GRCh37: 21:34922027-34922027 GRCh38: 21:33549721-33549721
33	SON	NM_138927.4(SON):c.5221G>C (p.Asp1741His)	SNV	Uncertain significance	930395		GRCh37: 21:34926758-34926758 GRCh38: 21:33554452-33554452
34	SON	NM_001291412.2(SON):c.244+4931_244+4933del	Microsatellite	Uncertain significance	634520	rs1601261295	GRCh37: 21:34923612-34923614 GRCh38: 21:33551306-33551308
35	SON	NM_138927.4(SON):c.1091T>C (p.Leu364Pro)	SNV	Uncertain significance	1028929		GRCh37: 21:34922628-34922628 GRCh38: 21:33550322-33550322
36	SON	NM_138927.4(SON):c.1568A>G (p.Glu523Gly)	SNV	Uncertain significance	1028930		GRCh37: 21:34923105-34923105 GRCh38: 21:33550799-33550799
37	SON	NM_138927.4(SON):c.2715G>A (p.Met905Ile)	SNV	Uncertain significance	1028931		GRCh37: 21:34924252-34924252 GRCh38: 21:33551946-33551946
38	SON	NM_138927.4(SON):c.311C>A (p.Pro104His)	SNV	Uncertain significance	1028932		GRCh37: 21:34921848-34921848 GRCh38: 21:33549542-33549542
39	SON	NM_138927.4(SON):c.3136G>A (p.Glu1046Lys)	SNV	Uncertain significance	1030012		GRCh37: 21:34924673-34924673 GRCh38: 21:33552367-33552367
40	SON	NM_032195.2(SON):c.3587C>T (p.Pro1196Leu)	SNV	Uncertain significance	451038	rs1225874870	GRCh37: 21:34925124-34925124 GRCh38: 21:33552818-33552818
41	SON	NM_138927.4(SON):c.4548G>A (p.Glu1516=)	SNV	Uncertain significance	1030013		GRCh37: 21:34926085-34926085 GRCh38: 21:33553779-33553779
42	SON	NM_138927.4(SON):c.4901C>T (p.Thr1634Ile)	SNV	Uncertain significance	1030014		GRCh37: 21:34926438-34926438 GRCh38: 21:33554132-33554132
43	SON	NM_138927.4(SON):c.4972C>T (p.Pro1658Ser)	SNV	Uncertain significance	1030015		GRCh37: 21:34926509-34926509 GRCh38: 21:33554203-33554203
44	SON	NM_138927.4(SON):c.5840G>A (p.Arg1947Lys)	SNV	Uncertain significance	1030016		GRCh37: 21:34927377-34927377 GRCh38: 21:33555071-33555071
45	SON	NM_138927.4(SON):c.5891_5892delinsTT (p.Ser1964Ile)	Indel	Uncertain significance	1030017		GRCh37: 21:34927428-34927429 GRCh38: 21:33555122-33555123
46	SON	NM_138927.4(SON):c.5978G>A (p.Arg1993His)	SNV	Uncertain significance	1030018		GRCh37: 21:34927515-34927515 GRCh38: 21:33555209-33555209
47	SON	NM_138927.4(SON):c.637G>C (p.Glu213Gln)	SNV	Uncertain significance	1030019		GRCh37: 21:34922174-34922174 GRCh38: 21:33549868-33549868
48	SON	NM_138927.4(SON):c.6657+316G>A	SNV	Uncertain significance	1030020		GRCh37: 21:34932397-34932397 GRCh38: 21:33560091-33560091
49	SON	NM_138927.4(SON):c.2449G>T (p.Ala817Ser)	SNV	Uncertain significance	1032269		GRCh37: 21:34923986-34923986 GRCh38: 21:33551680-33551680
50	SON	NM_138927.4(SON):c.3530C>T (p.Pro1177Leu)	SNV	Uncertain significance	1032270		GRCh37: 21:34925067-34925067 GRCh38: 21:33552761-33552761

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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

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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

Diseases related to Zttk Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Zttk Syndrome:

Symptoms & Phenotypes for Zttk Syndrome

Human phenotypes related to Zttk Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Articles related to 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