LIGOWS
MCID: LGH020
MIFTS: 22

Li-Ghorbani-Weisz-Hubshman Syndrome (LIGOWS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Li-Ghorbani-Weisz-Hubshman Syndrome

MalaCards integrated aliases for Li-Ghorbani-Weisz-Hubshman Syndrome:

Name: Li-Ghorbani-Weisz-Hubshman Syndrome 57 73 28 5
Ligows 57 73
Li-Ghorgani-Weisz-Hubshman Syndrome 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype
de novo mutation
eight unrelated patients have been reported (last curated august 2020)


Classifications:



Summaries for Li-Ghorbani-Weisz-Hubshman Syndrome

OMIM®: 57 Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is a neurodevelopmental disorder characterized by global developmental delay, mild to moderately impaired intellectual development with language delay, and mild dysmorphic features. Affected individuals may have behavioral abnormalities and difficulties with numbers and understanding certain concepts, such as money. Some patients have seizures. Brain imaging often shows enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia, suggesting abnormal cortical brain development. More variable additional features may be present (summary by Li et al., 2020). (618974) (Updated 08-Dec-2022)

MalaCards based summary: Li-Ghorbani-Weisz-Hubshman Syndrome, is also known as ligows. An important gene associated with Li-Ghorbani-Weisz-Hubshman Syndrome is KAT8 (Lysine Acetyltransferase 8). Affiliated tissues include brain, and related phenotypes are seizure and depressed nasal bridge

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay, mild to moderate intellectual disability, speech and language impairment, and variable facial dysmorphism. Some patients have seizures and autistic features. Brain imaging abnormalities are observed in some patients and include decreased white matter volume, enlarged ventricles, thin corpus callosum, and gray matter nodular heterotopia.

Related Diseases for Li-Ghorbani-Weisz-Hubshman Syndrome

Symptoms & Phenotypes for Li-Ghorbani-Weisz-Hubshman Syndrome

Human phenotypes related to Li-Ghorbani-Weisz-Hubshman Syndrome:

30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 30 Very rare (1%) HP:0001250
2 depressed nasal bridge 30 Very rare (1%) HP:0005280
3 delayed speech and language development 30 Very rare (1%) HP:0000750
4 thick vermilion border 30 Very rare (1%) HP:0012471
5 feeding difficulties in infancy 30 Very rare (1%) HP:0008872
6 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
7 low-set ears 30 Very rare (1%) HP:0000369
8 epicanthus 30 Very rare (1%) HP:0000286
9 atrial septal defect 30 Very rare (1%) HP:0001631
10 upslanted palpebral fissure 30 Very rare (1%) HP:0000582
11 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
12 patent ductus arteriosus 30 Very rare (1%) HP:0001643
13 ventriculomegaly 30 Very rare (1%) HP:0002119
14 prominent nasal bridge 30 Very rare (1%) HP:0000426
15 telecanthus 30 Very rare (1%) HP:0000506
16 ventricular septal defect 30 Very rare (1%) HP:0001629
17 hypotelorism 30 Very rare (1%) HP:0000601
18 delayed gross motor development 30 Very rare (1%) HP:0002194
19 autistic behavior 30 Very rare (1%) HP:0000729
20 hypoplasia of the corpus callosum 30 Very rare (1%) HP:0002079
21 esotropia 30 Very rare (1%) HP:0000565
22 hypermetropia 30 Very rare (1%) HP:0000540
23 periventricular heterotopia 30 Very rare (1%) HP:0007165
24 overlapping toe 30 Very rare (1%) HP:0001845
25 delayed fine motor development 30 Very rare (1%) HP:0010862
26 global developmental delay 30 HP:0001263
27 downturned corners of mouth 30 HP:0002714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
global developmental delay
unsteady gait
thin corpus callosum
enlarged ventricles
seizures (in some patients)
more
Head And Neck Ears:
low-set ears
dysplastic ears

Head And Neck Eyes:
telecanthus
hypotelorism
hypermetropia
epicanthal folds
upslanted palpebral fissures
more
Skeletal Feet:
overlapping toes

Head And Neck Face:
dysmorphic features, variable, nonspecific

Head And Neck Nose:
depressed nasal bridge
high nasal bridge

Head And Neck Mouth:
open mouth
downturned corners of the mouth
full lips

Skeletal Hands:
fifth finger clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)
adhd (in some patients)
difficulties with numbers or the value of money

Clinical features from OMIM®:

618974 (Updated 08-Dec-2022)

Drugs & Therapeutics for Li-Ghorbani-Weisz-Hubshman Syndrome

Search Clinical Trials, NIH Clinical Center for Li-Ghorbani-Weisz-Hubshman Syndrome

Genetic Tests for Li-Ghorbani-Weisz-Hubshman Syndrome

Genetic tests related to Li-Ghorbani-Weisz-Hubshman Syndrome:

# Genetic test Affiliating Genes
1 Li-Ghorbani-Weisz-Hubshman Syndrome 28 KAT8

Anatomical Context for Li-Ghorbani-Weisz-Hubshman Syndrome

Organs/tissues related to Li-Ghorbani-Weisz-Hubshman Syndrome:

MalaCards : Brain

Publications for Li-Ghorbani-Weisz-Hubshman Syndrome

Articles related to Li-Ghorbani-Weisz-Hubshman Syndrome:

# Title Authors PMID Year
1
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 57 5
31794431 2020

Variations for Li-Ghorbani-Weisz-Hubshman Syndrome

ClinVar genetic disease variations for Li-Ghorbani-Weisz-Hubshman Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KAT8 NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) SNV Pathogenic
976460 rs2057483219 GRCh37: 16:31131564-31131564
GRCh38: 16:31120243-31120243
2 KAT8 NM_032188.3(KAT8):c.293G>A (p.Arg98Gln) SNV Pathogenic
976461 rs748699921 GRCh37: 16:31131666-31131666
GRCh38: 16:31120345-31120345
3 KAT8 NM_032188.3(KAT8):c.523A>G (p.Lys175Glu) SNV Pathogenic
976462 rs2057538050 GRCh37: 16:31138516-31138516
GRCh38: 16:31127195-31127195
4 KAT8 NM_032188.3(KAT8):c.543G>C (p.Lys181Asn) SNV Pathogenic
976463 rs2057538160 GRCh37: 16:31138536-31138536
GRCh38: 16:31127215-31127215
5 KAT8 NM_032188.3(KAT8):c.275A>G (p.His92Arg) SNV Pathogenic
1684624 GRCh37: 16:31131570-31131570
GRCh38: 16:31120249-31120249
6 KAT8 NM_032188.3(KAT8):c.524A>C (p.Lys175Thr) SNV Likely Pathogenic
1329928 GRCh37: 16:31138517-31138517
GRCh38: 16:31127196-31127196
7 KAT8 NM_032188.3(KAT8):c.55G>C (p.Gly19Arg) SNV Uncertain Significance
1679609 GRCh37: 16:31129057-31129057
GRCh38: 16:31117736-31117736
8 KAT8 NM_032188.3(KAT8):c.725G>C (p.Arg242Pro) SNV Uncertain Significance
1699138 GRCh37: 16:31139414-31139414
GRCh38: 16:31128093-31128093

UniProtKB/Swiss-Prot genetic disease variations for Li-Ghorbani-Weisz-Hubshman Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KAT8 p.Tyr90Cys VAR_084751
2 KAT8 p.Arg98Gln VAR_084752
3 KAT8 p.Arg99Gln VAR_084753
4 KAT8 p.Lys175Glu VAR_084756

Expression for Li-Ghorbani-Weisz-Hubshman Syndrome

Search GEO for disease gene expression data for Li-Ghorbani-Weisz-Hubshman Syndrome.

Pathways for Li-Ghorbani-Weisz-Hubshman Syndrome

GO Terms for Li-Ghorbani-Weisz-Hubshman Syndrome

Sources for Li-Ghorbani-Weisz-Hubshman 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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