ZKS
MCID: ZKS001
MIFTS: 23

Zaki Syndrome (ZKS)

Categories: Genetic diseases
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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:



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...

Related Diseases for Zaki Syndrome

Symptoms & Phenotypes for Zaki Syndrome

Human phenotypes related to Zaki Syndrome:

30 (show all 47)
# Description HPO Frequency Orphanet 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)

Drugs & Therapeutics for Zaki Syndrome

Search Clinical Trials, NIH Clinical Center for Zaki Syndrome

Genetic Tests for Zaki Syndrome

Anatomical Context for Zaki Syndrome

Organs/tissues related to Zaki Syndrome:

MalaCards : Heart, Skin

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
34587386 2021
2
Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis. 62
36374649 2022

Variations for Zaki Syndrome

ClinVar genetic disease variations for Zaki Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID 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 SNP 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

Expression for Zaki Syndrome

Search GEO for disease gene expression data for Zaki Syndrome.

Pathways for Zaki Syndrome

GO Terms for Zaki Syndrome

Sources for Zaki Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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