Aliases & Classifications for Skraban-Deardorff Syndrome

MalaCards integrated aliases for Skraban-Deardorff Syndrome:

Name: Skraban-Deardorff Syndrome 57 75 6
Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features 57 75
Skdeas 57 75
Intellectual Disability, Seizures, Abnormal Gait and Distinctive Facial Features 6
Syndrome, Skraban-Deardorff 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
de novo mutation


Classifications:



External Ids:

OMIM 57 617616
MeSH 44 D008607

Summaries for Skraban-Deardorff Syndrome

OMIM : 57 Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017). (617616)

MalaCards based summary : Skraban-Deardorff Syndrome, also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, is related to alacrima, achalasia, and mental retardation syndrome. An important gene associated with Skraban-Deardorff Syndrome is WDR26 (WD Repeat Domain 26). Affiliated tissues include pineal and brain.

UniProtKB/Swiss-Prot : 75 Skraban-Deardorff syndrome: An autosomal dominant syndrome characterized by psychomotor developmental delay, intellectual disability with delayed speech, febrile and non-febrile seizures, abnormal gait, and facial dysmorphism. Facial features include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip.

Related Diseases for Skraban-Deardorff Syndrome

Diseases related to Skraban-Deardorff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2

Symptoms & Phenotypes for Skraban-Deardorff Syndrome

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
constipation
poor feeding
gastric reflux

Neurologic Central Nervous System:
global developmental delay
spastic gait
wide-based gait
delayed walking
stiff gait
more
Head And Neck Face:
full cheeks
coarse facies
micrognathia, mild
prominent maxilla

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
autistic features
repetitive behaviors

Head And Neck Ears:
otitis media, recurrent

Head And Neck Teeth:
widely spaced teeth

Head And Neck Nose:
depressed nasal bridge
anteverted nares
full nasal tip

Head And Neck Eyes:
strabismus
amblyopia
sparse lateral eyebrows
rounded palpebral fissures
large appearing irises

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
prominent upper lip
cupid bow
abnormal gingiva


Clinical features from OMIM:

617616

Drugs & Therapeutics for Skraban-Deardorff Syndrome

Search Clinical Trials , NIH Clinical Center for Skraban-Deardorff Syndrome

Genetic Tests for Skraban-Deardorff Syndrome

Anatomical Context for Skraban-Deardorff Syndrome

MalaCards organs/tissues related to Skraban-Deardorff Syndrome:

41
Pineal, Brain

Publications for Skraban-Deardorff Syndrome

Articles related to Skraban-Deardorff Syndrome:

# Title Authors Year
1
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. ( 28686853 )
2017

Variations for Skraban-Deardorff Syndrome

ClinVar genetic disease variations for Skraban-Deardorff Syndrome:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR26 NM_025160.6(WDR26): c.1276G> T (p.Glu426Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224404453: 224404453
2 WDR26 NM_025160.6(WDR26): c.1276G> T (p.Glu426Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224592155: 224592155
3 WDR26 NM_025160.6(WDR26): c.1161_1162delTA (p.His389Profs) deletion Pathogenic GRCh37 Chromosome 1, 224592269: 224592270
4 WDR26 NM_025160.6(WDR26): c.1161_1162delTA (p.His389Profs) deletion Pathogenic GRCh38 Chromosome 1, 224404567: 224404568
5 WDR26 NM_025160.6(WDR26): c.1457delT (p.Val486Glufs) deletion Pathogenic GRCh38 Chromosome 1, 224398997: 224398997
6 WDR26 NM_025160.6(WDR26): c.1457delT (p.Val486Glufs) deletion Pathogenic GRCh37 Chromosome 1, 224586699: 224586699
7 WDR26 NM_025160.6(WDR26): c.904_905delCA (p.Gln302Aspfs) deletion Pathogenic GRCh38 Chromosome 1, 224418374: 224418375
8 WDR26 NM_025160.6(WDR26): c.904_905delCA (p.Gln302Aspfs) deletion Pathogenic GRCh37 Chromosome 1, 224606076: 224606077
9 WDR26 NM_025160.6(WDR26): c.850G> A (p.Asp284Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 224607232: 224607232
10 WDR26 NM_025160.6(WDR26): c.850G> A (p.Asp284Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224419530: 224419530
11 WDR26 NM_025160.6(WDR26): c.762T> G (p.Ser254Arg) single nucleotide variant Pathogenic rs150512167 GRCh37 Chromosome 1, 224612222: 224612222
12 WDR26 NM_025160.6(WDR26): c.762T> G (p.Ser254Arg) single nucleotide variant Pathogenic rs150512167 GRCh38 Chromosome 1, 224424520: 224424520
13 WDR26 NM_025160.6(WDR26): c.1237G> A (p.Asp413Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 224592194: 224592194
14 WDR26 NM_025160.6(WDR26): c.1237G> A (p.Asp413Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 224404492: 224404492
15 WDR26 NM_025160.6(WDR26): c.1225T> G (p.Trp409Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 224592206: 224592206
16 WDR26 NM_025160.6(WDR26): c.1225T> G (p.Trp409Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 224404504: 224404504
17 WDR26 NM_025160.6(WDR26): c.73_74insA (p.Gly25Glufs) insertion Pathogenic GRCh38 Chromosome 1, 224434032: 224434033
18 WDR26 NM_025160.6(WDR26): c.73_74insA (p.Gly25Glufs) insertion Pathogenic GRCh37 Chromosome 1, 224621734: 224621735

Expression for Skraban-Deardorff Syndrome

Search GEO for disease gene expression data for Skraban-Deardorff Syndrome.

Pathways for Skraban-Deardorff Syndrome

GO Terms for Skraban-Deardorff Syndrome

Sources for Skraban-Deardorff Syndrome

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