LIGOWS
MCID: LGH020
MIFTS: 19

Li-Ghorbani-Weisz-Hubshman Syndrome (LIGOWS)

Categories: Genetic diseases, Neuronal diseases

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 6
Ligows 57 73
Li-Ghorgani-Weisz-Hubshman Syndrome 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
eight unrelated patients have been reported (last curated august 2020)


HPO:

31
li-ghorbani-weisz-hubshman syndrome:
Inheritance autosomal dominant inheritance


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 05-Mar-2021)

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 depressed nasal bridge and delayed speech and language development

UniProtKB/Swiss-Prot : 73 Li-Ghorbani-Weisz-Hubshman syndrome: 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:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 very rare (1%) HP:0005280
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 thick vermilion border 31 very rare (1%) HP:0012471
4 feeding difficulties in infancy 31 very rare (1%) HP:0008872
5 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
6 low-set ears 31 very rare (1%) HP:0000369
7 epicanthus 31 very rare (1%) HP:0000286
8 atrial septal defect 31 very rare (1%) HP:0001631
9 upslanted palpebral fissure 31 very rare (1%) HP:0000582
10 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
11 patent ductus arteriosus 31 very rare (1%) HP:0001643
12 ventriculomegaly 31 very rare (1%) HP:0002119
13 prominent nasal bridge 31 very rare (1%) HP:0000426
14 telecanthus 31 very rare (1%) HP:0000506
15 ventricular septal defect 31 very rare (1%) HP:0001629
16 hypotelorism 31 very rare (1%) HP:0000601
17 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
18 delayed gross motor development 31 very rare (1%) HP:0002194
19 autistic behavior 31 very rare (1%) HP:0000729
20 hypermetropia 31 very rare (1%) HP:0000540
21 esotropia 31 very rare (1%) HP:0000565
22 periventricular heterotopia 31 very rare (1%) HP:0007165
23 overlapping toe 31 very rare (1%) HP:0001845
24 delayed fine motor development 31 very rare (1%) HP:0010862
25 seizure 31 very rare (1%) HP:0001250
26 global developmental delay 31 HP:0001263
27 downturned corners of mouth 31 HP:0002714

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
unsteady gait
enlarged ventricles
seizures (in some patients)
delayed walking
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 05-Mar-2021)

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

Anatomical Context for Li-Ghorbani-Weisz-Hubshman Syndrome

MalaCards organs/tissues related to Li-Ghorbani-Weisz-Hubshman Syndrome:

40
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. 6 57
31794431 2020

Variations for Li-Ghorbani-Weisz-Hubshman Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KAT8 NM_032188.3(KAT8):c.269A>G (p.Tyr90Cys) SNV Pathogenic 976460 16:31131564-31131564 16:31120243-31120243
2 KAT8 NM_032188.3(KAT8):c.293G>A (p.Arg98Gln) SNV Pathogenic 976461 16:31131666-31131666 16:31120345-31120345
3 KAT8 NM_032188.3(KAT8):c.523A>G (p.Lys175Glu) SNV Pathogenic 976462 16:31138516-31138516 16:31127195-31127195
4 KAT8 NM_032188.3(KAT8):c.543G>C (p.Lys181Asn) SNV Pathogenic 976463 16:31138536-31138536 16:31127215-31127215

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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