ALKUS
MCID: ALZ064
MIFTS: 15

Alzahrani-Kuwahara Syndrome (ALKUS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Alzahrani-Kuwahara Syndrome

MalaCards integrated aliases for Alzahrani-Kuwahara Syndrome:

Name: Alzahrani-Kuwahara Syndrome 57 6
Neurodevelopmental Disorder with Dysmorphic Facies and Cataracts 57
Alkus 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth


Classifications:



External Ids:

OMIM® 57 619268

Summaries for Alzahrani-Kuwahara Syndrome

OMIM® : 57 Alzahrani-Kuwahara syndrome (ALKUS) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features. More variable findings include early-onset cataracts, hypotonia, congenital heart defects, lower limb spasticity, and hypospadias (summary by Alzahrani et al., 2020). (619268) (Updated 20-May-2021)

MalaCards based summary : Alzahrani-Kuwahara Syndrome, is also known as neurodevelopmental disorder with dysmorphic facies and cataracts. An important gene associated with Alzahrani-Kuwahara Syndrome is SMG8 (SMG8 Nonsense Mediated MRNA Decay Factor). Affiliated tissues include brain and heart.

Related Diseases for Alzahrani-Kuwahara Syndrome

Symptoms & Phenotypes for Alzahrani-Kuwahara Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
global developmental delay
inability to walk
hypotonia
pyramidal signs
ataxic gait
more
Head And Neck Eyes:
hypertelorism
strabismus
upslanting palpebral fissures
early-onset cataracts

Head And Neck Face:
micrognathia
long philtrum
prominent nasolabial folds
dysmorphic facial features

Genitourinary External Genitalia Male:
hypospadias

Cardiovascular Heart:
patent foramen ovale
congenital heart defects (in some patients)
septal defects

Growth Other:
poor overall growth

Skin Nails Hair Skin:
hyperpigmentation (in some patients)

Head And Neck Nose:
depressed nasal bridge
prominent nose

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
large ears

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
behavioral abnormalities
autistic features

Head And Neck Mouth:
thick lips

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

619268 (Updated 20-May-2021)

Drugs & Therapeutics for Alzahrani-Kuwahara Syndrome

Search Clinical Trials , NIH Clinical Center for Alzahrani-Kuwahara Syndrome

Genetic Tests for Alzahrani-Kuwahara Syndrome

Anatomical Context for Alzahrani-Kuwahara Syndrome

MalaCards organs/tissues related to Alzahrani-Kuwahara Syndrome:

40
Brain, Heart

Publications for Alzahrani-Kuwahara Syndrome

Articles related to Alzahrani-Kuwahara Syndrome:

# Title Authors PMID Year
1
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans. 57 6
33242396 2020

Variations for Alzahrani-Kuwahara Syndrome

ClinVar genetic disease variations for Alzahrani-Kuwahara Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMG8 NM_018149.7(SMG8):c.441dup (p.Val148fs) Duplication Pathogenic 1064666 GRCh37: 17:57287850-57287851
GRCh38: 17:59210489-59210490
2 SMG8 NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter) SNV Pathogenic 1064667 GRCh37: 17:57290699-57290699
GRCh38: 17:59213338-59213338
3 SMG8 NM_018149.7(SMG8):c.623A>G (p.His208Arg) SNV Pathogenic 1064668 GRCh37: 17:57288035-57288035
GRCh38: 17:59210674-59210674

Expression for Alzahrani-Kuwahara Syndrome

Search GEO for disease gene expression data for Alzahrani-Kuwahara Syndrome.

Pathways for Alzahrani-Kuwahara Syndrome

GO Terms for Alzahrani-Kuwahara Syndrome

Sources for Alzahrani-Kuwahara 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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