SKDEAS
MCID: SKR001
MIFTS: 24

Skraban-Deardorff Syndrome (SKDEAS)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Skraban-Deardorff Syndrome

MalaCards integrated aliases for Skraban-Deardorff Syndrome:

Name: Skraban-Deardorff Syndrome 57 59 75 29 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
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome 59
Syndrome, Skraban-Deardorff 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
de novo mutation


HPO:

32
skraban-deardorff syndrome:
Onset and clinical course variable expressivity infantile onset


Classifications:



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 brain and pineal, and related phenotypes are intellectual disability and seizures

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 10.3

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

Human phenotypes related to Skraban-Deardorff Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 constipation 32 HP:0002019
4 coarse facial features 32 HP:0000280
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 anteverted nares 32 HP:0000463
8 full cheeks 32 HP:0000293
9 micrognathia 32 HP:0000347
10 feeding difficulties 32 HP:0011968
11 strabismus 32 HP:0000486
12 absent speech 32 HP:0001344
13 ventriculomegaly 32 HP:0002119
14 amblyopia 32 HP:0000646
15 thick upper lip vermilion 32 HP:0000215
16 sparse lateral eyebrow 32 HP:0005338
17 spastic gait 32 HP:0002064
18 hypoplasia of the corpus callosum 32 HP:0002079
19 broad-based gait 32 HP:0002136
20 hyperplasia of the maxilla 32 HP:0430028
21 happy demeanor 32 HP:0040082
22 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Skraban-Deardorff Syndrome

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

Genetic Tests for Skraban-Deardorff Syndrome

Genetic tests related to Skraban-Deardorff Syndrome:

# Genetic test Affiliating Genes
1 Skraban-Deardorff Syndrome 29 WDR26

Anatomical Context for Skraban-Deardorff Syndrome

MalaCards organs/tissues related to Skraban-Deardorff Syndrome:

41
Brain, Pineal

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 GRCh37 Chromosome 1, 224592155: 224592155
2 WDR26 NM_025160.6(WDR26): c.1276G> T (p.Glu426Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 224404453: 224404453
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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