WHSUS
MCID: WHT019
MIFTS: 44

White-Sutton Syndrome (WHSUS)

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

Aliases & Classifications for White-Sutton Syndrome

MalaCards integrated aliases for White-Sutton Syndrome:

Name: White-Sutton Syndrome 56 12 25 58 73 29 6 15 39 17
Whsus 56 12 25 73
Mrd37 56 12 25 73
Mental Retardation, Autosomal Dominant 37 56 25 73
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome 58
Mental Retardation, Autosomal Dominant 37; Mrd37 56
Autosomal Dominant Mental Retardation 37 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or early childhood
variable features
de novo mutations


HPO:

31
white-sutton syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for White-Sutton Syndrome

Genetics Home Reference : 25 White-Sutton syndrome is a disorder that causes intellectual disability, specific facial features, and other signs and symptoms affecting various parts of the body. Most affected individuals have features of autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. However, in White-Sutton syndrome these features can occur along with other characteristics that are unusual in people with ASD, such as an overly friendly demeanor. People with White-Sutton syndrome have delayed development, with speech and language usually being more delayed than motor skills such as walking. Intellectual disability can range from borderline normal to severe. Most people with White-Sutton syndrome have mild abnormalities of the head and face, which can include an unusually small head (microcephaly); a wide, short skull (brachycephaly); wide-set eyes (hypertelorism); a flat or sunken appearance of the middle of the face (midface hypoplasia); and a small mouth with a thin upper lip. A wide variety of additional signs and symptoms can occur with White-Sutton syndrome. Among the more common are hyperactivity; sleeping difficulties; vision defects, especially farsightedness; gastrointestinal problems; obesity; and short stature. Some individuals with White-Sutton syndrome are born with a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia.

MalaCards based summary : White-Sutton Syndrome, also known as whsus, is related to smith-magenis syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with White-Sutton Syndrome is POGZ (Pogo Transposable Element Derived With ZNF Domain), and among its related pathways/superpathways are Hedgehog signaling pathway (KEGG) and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include eye, heart and pons, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of POGZ on chromosome 1q21.3.

OMIM : 56 White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding (summary by White et al., 2016). A significant number of patients have autism or autistic features (summary by Stessman et al., 2016). (616364)

UniProtKB/Swiss-Prot : 73 White-Sutton syndrome: A mental retardation syndrome characterized by developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and dysmorphic facial features. Variable features include short stature, microcephaly, strabismus and hearing loss.

Wikipedia : 74 White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of... more...

Related Diseases for White-Sutton Syndrome

Graphical network of the top 20 diseases related to White-Sutton Syndrome:



Diseases related to White-Sutton Syndrome

Symptoms & Phenotypes for White-Sutton Syndrome

Human phenotypes related to White-Sutton Syndrome:

58 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
3 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
7 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
8 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
9 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
10 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
11 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
12 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
13 severe expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0006863
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
16 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
17 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
18 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
19 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
20 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
21 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
22 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
23 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
24 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
25 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
26 pointed chin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000307
27 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
28 rod-cone dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000510
29 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
30 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
31 chronic constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0012450
32 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
33 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
34 inguinal hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000023
35 short neck 58 31 very rare (1%) Very rare (<4-1%) HP:0000470
36 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
37 blindness 58 31 very rare (1%) Very rare (<4-1%) HP:0000618
38 high palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000218
39 vitiligo 58 31 very rare (1%) Very rare (<4-1%) HP:0001045
40 joint laxity 58 31 very rare (1%) Very rare (<4-1%) HP:0001388
41 cerebral cortical atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0002120
42 downturned corners of mouth 58 31 very rare (1%) Very rare (<4-1%) HP:0002714
43 iris coloboma 58 31 very rare (1%) Very rare (<4-1%) HP:0000612
44 obsessive-compulsive behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0000722
45 self-injurious behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100716
46 malar flattening 58 31 very rare (1%) Very rare (<4-1%) HP:0000272
47 short philtrum 58 31 very rare (1%) Very rare (<4-1%) HP:0000322
48 congenital diaphragmatic hernia 58 31 very rare (1%) Very rare (<4-1%) HP:0000776
49 cerebellar atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0001272
50 hypoplasia of the corpus callosum 58 31 very rare (1%) Very rare (<4-1%) HP:0002079

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
sleep difficulties

Head And Neck Head:
microcephaly
brachycephaly

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss (in some patients)

Head And Neck Mouth:
open mouth
high-arched palate
downturned corners of the mouth

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features

Head And Neck Nose:
broad nasal tip
flat nasal bridge

Cardiovascular Heart:
congenital heart defects (1 patient)

Head And Neck Neck:
short neck

Head And Neck Eyes:
optic atrophy
strabismus
myopia
rod-cone dystrophy
astigmatism
more
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
constipation

Skeletal:
joint laxity

Skeletal Hands:
brachydactyly

Head And Neck Face:
short philtrum
pointed chin
midface hypoplasia
prognathism
hypotonic facies
more
Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

616364

MGI Mouse Phenotypes related to White-Sutton Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 GLDC GLI2 GLI3 MAP2K2 PNPLA1
2 vision/eye MP:0005391 9.1 CDK13 GLDC GLI2 GLI3 IFT81 MAP2K2

Drugs & Therapeutics for White-Sutton Syndrome

Search Clinical Trials , NIH Clinical Center for White-Sutton Syndrome

Genetic Tests for White-Sutton Syndrome

Genetic tests related to White-Sutton Syndrome:

# Genetic test Affiliating Genes
1 White-Sutton Syndrome 29 POGZ

Anatomical Context for White-Sutton Syndrome

MalaCards organs/tissues related to White-Sutton Syndrome:

40
Eye, Heart, Pons

Publications for White-Sutton Syndrome

Articles related to White-Sutton Syndrome:

(show all 12)
# Title Authors PMID Year
1
A novel de novo POGZ mutation in a patient with intellectual disability. 6 56
26763879 2016
2
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. 56 6
26942287 2016
3
POGZ truncating alleles cause syndromic intellectual disability. 56 6
26739615 2016
4
Large-scale discovery of novel genetic causes of developmental disorders. 56 6
25533962 2015
5
De novo mutations in schizophrenia implicate synaptic networks. 56
24463507 2014
6
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 56
22495311 2012
7
De novo gene disruptions in children on the autistic spectrum. 56
22542183 2012
8
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. 61
32359026 2020
9
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes. 61
32103003 2020
10
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). 61
31782611 2020
11
POGZ-related epilepsy: Case report and review of the literature. 61
31136090 2019
12
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. 61
27799067 2016

Variations for White-Sutton Syndrome

ClinVar genetic disease variations for White-Sutton Syndrome:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.1810G>T (p.Glu604Ter)SNV Pathogenic 431126 rs1135401798 1:151384217-151384217 1:151411741-151411741
2 POGZ NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs)duplication Pathogenic 522891 rs1553216467 1:151384159-151384160 1:151411683-151411684
3 POGZ NM_015100.4(POGZ):c.2806G>T (p.Gly936Ter)SNV Pathogenic 620052 rs1557867134 1:151378705-151378705 1:151406229-151406229
4 POGZ NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)deletion Pathogenic 559853 rs1553213060 1:151378864-151378865 1:151406388-151406389
5 POGZ NM_015100.4(POGZ):c.460-1G>ASNV Pathogenic 801545 1:151402188-151402188 1:151429712-151429712
6 POGZ NM_015100.4(POGZ):c.125-1G>TSNV Pathogenic 801546 1:151413563-151413563 1:151441087-151441087
7 GLI2 NM_001374353.1(GLI2):c.3387G>A (p.Trp1129Ter)SNV Pathogenic 816868 2:121746928-121746928 2:120989352-120989352
8 POGZ NM_015100.4(POGZ):c.3354del (p.Leu1119fs)deletion Pathogenic 190307 rs864321667 1:151378157-151378157 1:151405681-151405681
9 POGZ NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter)SNV Pathogenic 190308 rs864321668 1:151378800-151378800 1:151406324-151406324
10 POGZ NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)SNV Pathogenic 218149 rs864321674 1:151378576-151378576 1:151406100-151406100
11 POGZ NM_015100.4(POGZ):c.2780dup (p.Leu927fs)duplication Pathogenic 218150 rs864321675 1:151378730-151378731 1:151406254-151406255
12 POGZ NM_015100.4(POGZ):c.2763dup (p.Thr922fs)duplication Pathogenic 218147 rs864321672 1:151378747-151378748 1:151406271-151406272
13 POGZ NM_015100.4(POGZ):c.2319_2320CT[1] (p.Ser774fs)short repeat Pathogenic 218146 rs864321671 1:151380627-151380630 1:151408151-151408154
14 POGZ NM_015100.4(POGZ):c.833C>G (p.Ser278Ter)SNV Pathogenic 218148 rs864321673 1:151400625-151400625 1:151428149-151428149
15 POGZ NM_015100.4(POGZ):c.1277dup (p.Pro426_Glu427insTer)duplication Pathogenic 224722 rs869320763 1:151396670-151396671 1:151424194-151424195
16 POGZ NM_015100.4(POGZ):c.2590C>T (p.Arg864Ter)SNV Pathogenic 224723 rs756659230 1:151378921-151378921 1:151406445-151406445
17 POGZ NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)SNV Pathogenic 224724 rs869312833 1:151378510-151378510 1:151406034-151406034
18 POGZ NM_015100.4(POGZ):c.3847C>T (p.Gln1283Ter)SNV Pathogenic 224725 rs869312834 1:151377664-151377664 1:151405188-151405188
19 POGZ NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)deletion Pathogenic 224726 rs869320764 1:151378054-151378055 1:151405578-151405579
20 POGZ NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)SNV Likely pathogenic 375571 rs1057519392 1:151384824-151384824 1:151412348-151412348
21 POGZ NM_015100.4(POGZ):c.1748A>G (p.His583Arg)SNV Likely pathogenic 430948 rs1131692270 1:151384803-151384803 1:151412327-151412327
22 POGZ NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)SNV Likely pathogenic 801544 1:151378087-151378087 1:151405611-151405611
23 POGZ NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)SNV Likely pathogenic 619983 rs1557878687 1:151384164-151384164 1:151411688-151411688
24 POGZ NM_015100.4(POGZ):c.2836del (p.Asp946fs)deletion Likely pathogenic 666305 1:151378675-151378675 1:151406199-151406199
25 POGZ NM_015100.4(POGZ):c.2545+1deldeletion Likely pathogenic 666302 1:151379386-151379386 1:151406910-151406910
26 POGZ NM_015100.4(POGZ):c.1524-3C>GSNV Likely pathogenic 666553 1:151396030-151396030 1:151423554-151423554
27 POGZ NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer)deletion Likely pathogenic 559852 rs1553212374 1:151378304-151378305 1:151405828-151405829
28 POGZ NM_015100.4(POGZ):c.2604del (p.Asn869fs)deletion Likely pathogenic 436355 rs1553213126 1:151378907-151378907 1:151406431-151406431
29 POGZ NM_015100.4(POGZ):c.634G>A (p.Val212Met)SNV Uncertain significance 450471 rs1553226286 1:151400824-151400824 1:151428348-151428348
30 POGZ NM_015100.4(POGZ):c.2188_2190delinsAAA (p.Tyr730Lys)indel Uncertain significance 800774 1:151380929-151380931 1:151408453-151408455
31 GLI3 NM_000168.6(GLI3):c.4019C>A (p.Pro1340His)SNV Uncertain significance 816869 7:42004652-42004652 7:41965054-41965054
32 POGZ NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp)SNV Uncertain significance 73166 rs267598016 1:151396522-151396522 1:151424046-151424046
33 POGZ NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)SNV Benign/Likely benign 589186 rs145570114 1:151378722-151378722 1:151406246-151406246

Expression for White-Sutton Syndrome

Search GEO for disease gene expression data for White-Sutton Syndrome.

Pathways for White-Sutton Syndrome

Pathways related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 GLI3 GLI2
2 10.6 GLI3 GLI2
3
Show member pathways
9.9 GLI3 GLI2

GO Terms for White-Sutton Syndrome

Cellular components related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary base GO:0097546 8.96 GLI3 GLI2
2 ciliary tip GO:0097542 8.8 IFT81 GLI3 GLI2

Biological processes related to White-Sutton Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neural tube development GO:0021915 9.56 GLI3 GLI2
2 dorsal/ventral pattern formation GO:0009953 9.55 GLI3 GLI2
3 mammary gland development GO:0030879 9.54 GLI3 GLI2
4 developmental growth GO:0048589 9.52 GLI3 GLI2
5 branching morphogenesis of an epithelial tube GO:0048754 9.51 GLI3 GLI2
6 negative regulation of smoothened signaling pathway GO:0045879 9.49 GLI3 GLI2
7 proximal/distal pattern formation GO:0009954 9.48 GLI3 GLI2
8 spinal cord motor neuron differentiation GO:0021522 9.46 GLI3 GLI2
9 anatomical structure formation involved in morphogenesis GO:0048646 9.43 GLI3 GLI2
10 embryonic digestive tract development GO:0048566 9.4 GLI3 GLI2
11 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.37 GLI3 GLI2
12 spinal cord dorsal/ventral patterning GO:0021513 9.32 GLI3 GLI2
13 hindgut morphogenesis GO:0007442 9.26 GLI3 GLI2
14 tube development GO:0035295 9.16 GLI3 GLI2
15 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 8.96 GLI3 GLI2
16 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 8.62 GLI3 GLI2

Sources for White-Sutton Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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