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

Sources

Aliases & Classifications for Zaki Syndrome

MalaCards integrated aliases for Zaki Syndrome:

Name: Zaki Syndrome ⁵⁷ ⁷³ ⁵ ⁷⁵

Zks ⁵⁷ ⁷³

Microcephaly, Progressive, with Developmental Delay, Cupped Ears, and Dysmorphic Features ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
phenotypic variability

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

Sources

Summaries for Zaki Syndrome

OMIM®: ⁵⁷ Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies (Chai et al., 2021). (619648) (Updated 08-Dec-2022)

MalaCards based summary: Zaki Syndrome, is also known as zks. An important gene associated with Zaki Syndrome is WLS (Wnt Ligand Secretion Mediator). Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disorder characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies.

Wikipedia: ⁷⁵ Zaki syndrome is a syndrome characterized by microcephaly, facial dysmorphism, foot syndactyly, renal... more...

Sources

Related Diseases for Zaki Syndrome

Sources

Symptoms & Phenotypes for Zaki Syndrome

Human phenotypes related to Zaki Syndrome:

³⁰ (show all 47)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³⁰	Very rare (1%)	HP:0001249
2	seizure ³⁰	Very rare (1%)	HP:0001250
3	hyperreflexia ³⁰	Very rare (1%)	HP:0001347
4	scoliosis ³⁰	Very rare (1%)	HP:0002650
5	high palate ³⁰	Very rare (1%)	HP:0000218
6	hypotonia ³⁰	Very rare (1%)	HP:0001252
7	developmental regression ³⁰	Very rare (1%)	HP:0002376
8	wide nasal bridge ³⁰	Very rare (1%)	HP:0000431
9	delayed speech and language development ³⁰	Very rare (1%)	HP:0000750
10	microcephaly ³⁰	Very rare (1%)	HP:0000252
11	anteverted nares ³⁰	Very rare (1%)	HP:0000463
12	short stature ³⁰	Very rare (1%)	HP:0004322
13	wide intermamillary distance ³⁰	Very rare (1%)	HP:0006610
14	micrognathia ³⁰	Very rare (1%)	HP:0000347
15	hypoplastic toenails ³⁰	Very rare (1%)	HP:0001800
16	delayed social development ³⁰	Very rare (1%)	HP:0012434
17	patent ductus arteriosus ³⁰	Very rare (1%)	HP:0001643
18	hydronephrosis ³⁰	Very rare (1%)	HP:0000126
19	preauricular skin tag ³⁰	Very rare (1%)	HP:0000384
20	sparse scalp hair ³⁰	Very rare (1%)	HP:0002209
21	short philtrum ³⁰	Very rare (1%)	HP:0000322
22	wide mouth ³⁰	Very rare (1%)	HP:0000154
23	high forehead ³⁰	Very rare (1%)	HP:0000348
24	sacral dimple ³⁰	Very rare (1%)	HP:0000960
25	congenital diaphragmatic hernia ³⁰	Very rare (1%)	HP:0000776
26	hyperextensible skin ³⁰	Very rare (1%)	HP:0000974
27	toe syndactyly ³⁰	Very rare (1%)	HP:0001770
28	wide nose ³⁰	Very rare (1%)	HP:0000445
29	sparse lateral eyebrow ³⁰	Very rare (1%)	HP:0005338
30	sloping forehead ³⁰	Very rare (1%)	HP:0000340
31	ectrodactyly ³⁰	Very rare (1%)	HP:0100257
32	cupped ear ³⁰	Very rare (1%)	HP:0000378
33	poor appetite ³⁰	Very rare (1%)	HP:0004396
34	delayed gross motor development ³⁰	Very rare (1%)	HP:0002194
35	cerebellar vermis hypoplasia ³⁰	Very rare (1%)	HP:0001320
36	renal agenesis ³⁰	Very rare (1%)	HP:0000104
37	unsteady gait ³⁰	Very rare (1%)	HP:0002317
38	hypoplasia of the corpus callosum ³⁰	Very rare (1%)	HP:0002079
39	spastic gait ³⁰	Very rare (1%)	HP:0002064
40	long fingers ³⁰	Very rare (1%)	HP:0100807
41	broad distal phalanx of finger ³⁰	Very rare (1%)	HP:0009836
42	patent foramen ovale ³⁰	Very rare (1%)	HP:0001655
43	dilated fourth ventricle ³⁰	Very rare (1%)	HP:0002198
44	delayed fine motor development ³⁰	Very rare (1%)	HP:0010862
45	hypoplasia of the phalanges of the toes ³⁰	Very rare (1%)	HP:0010746
46	intraventricular arachnoid cyst ³⁰	Very rare (1%)	HP:0012488
47	median pseudocleft lip ³⁰	Very rare (1%)	HP:0034185

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Spine:
scoliosis

Head And Neck Nose:
anteverted nares
wide nose
broad nasal bridge

Head And Neck Face:
micrognathia
short philtrum
high forehead
sloping forehead

Head And Neck Head:
sparse scalp hair
microcephaly, progressive

Head And Neck Mouth:
wide mouth
median pseudocleft lip
high-arched palate

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
developmental delay
language delay
seizures (rare)
enlarged fourth ventricle
more

Skeletal Feet:
syndactyly
ectrodactyly (rare)
hypoplastic phalanges

Chest Breasts:
widely spaced nipples

Genitourinary Kidneys:
renal agenesis (rare)
medullary hydronephrosis (rare)

Skin Nails Hair Nails:
hypoplasia of toenails

Head And Neck Eyes:
nystagmus
visual impairment
strabismus
iris coloboma
microcornea
more

Growth Height:
short stature

Cardiovascular Vascular:
patent ductus arteriosus

Skin Nails Hair Hair:
sparse scalp hair
sparse eyebrows

Skin Nails Hair Skin:
hyperextensible skin

Skeletal Hands:
long fingers
broad distal phalanges

Cardiovascular Heart:
patent foramen ovale

Head And Neck Ears:
cupped ears

Chest Diaphragm:
diaphragmatic hernia, congenital (rare)

Clinical features from OMIM®:

619648 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Zaki Syndrome

Search Clinical Trials, NIH Clinical Center for Zaki Syndrome

Sources

Genetic Tests for Zaki Syndrome

Sources

Anatomical Context for Zaki Syndrome

Organs/tissues related to Zaki Syndrome:

MalaCards : Heart, Skin

Sources

Publications for Zaki Syndrome

Articles related to Zaki Syndrome:

#	Title	Authors	PMID	Year
1	A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. ⁶² ⁵⁷ ⁵	Chai G...Gleeson JG	34587386	2021
2	Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis. ⁶²	Kantaputra P...Ketudat Cairns JR	36374649	2022

Sources

Genes for Zaki Syndrome

Genes related to Zaki Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WLS	Wnt Ligand Secretion Mediator	Protein Coding	1207.43	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ GeneCards inferred via : Disorders (show sections)	34587386
2	GNG12-AS1	GNG12, DIRAS3 And WLS Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	34587386

Sources

Variations for Zaki Syndrome

ClinVar genetic disease variations for Zaki Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	Position
1	GNG12-AS1, WLS	NM_024911.7(WLS):c.1175A>G (p.Tyr392Cys)	SNV	Pathogenic	1098567	GRCh37: 1:68611655-68611655 GRCh38: 1:68145972-68145972
2	GNG12-AS1, WLS	NM_024911.7(WLS):c.1592T>C (p.Ile531Thr)	SNV	Pathogenic	1098569	GRCh37: 1:68591943-68591943 GRCh38: 1:68126260-68126260
3	GNG12-AS1, WLS	NM_024911.7(WLS):c.1606C>T (p.Arg536Cys)	SNV	Pathogenic	1098570	GRCh37: 1:68591929-68591929 GRCh38: 1:68126246-68126246
4	GNG12-AS1, WLS	NM_024911.7(WLS):c.1433A>G (p.Tyr478Cys)	SNV	Pathogenic	1098568	GRCh37: 1:68603546-68603546 GRCh38: 1:68137863-68137863

UniProtKB/Swiss-Prot genetic disease variations for Zaki Syndrome:

⁷³

#	Symbol	AA change	Variation ID
1	WLS	p.Tyr392Cys	VAR_086565
2	WLS	p.Tyr478Cys	VAR_086566
3	WLS	p.Ile531Thr	VAR_086567
4	WLS	p.Arg536Cys	VAR_086568

Sources

Expression for Zaki Syndrome

Search GEO for disease gene expression data for Zaki Syndrome.

Sources

Pathways for Zaki Syndrome

Sources

GO Terms for Zaki Syndrome

Sources

Sources for Zaki Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ZKS MCID: ZKS001 MIFTS: 23	Zaki Syndrome (ZKS) Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Zaki Syndrome (ZKS)

Aliases & Classifications for Zaki Syndrome

MalaCards integrated aliases for Zaki Syndrome:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Zaki Syndrome

Related Diseases for Zaki Syndrome

Symptoms & Phenotypes for Zaki Syndrome

Human phenotypes related to Zaki Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Zaki Syndrome

Genetic Tests for Zaki Syndrome

Anatomical Context for Zaki Syndrome

Organs/tissues related to Zaki Syndrome:

Publications for Zaki Syndrome

Articles related to Zaki Syndrome:

Genes for Zaki Syndrome

Genes related to Zaki Syndrome (2 elite genes):

Variations for Zaki Syndrome

ClinVar genetic disease variations for Zaki Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Zaki Syndrome:

Expression for Zaki Syndrome

Pathways for Zaki Syndrome

GO Terms for Zaki Syndrome

Sources for Zaki Syndrome