VRJS
MCID: VRH001
MIFTS: 37

Verheij Syndrome (VRJS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Verheij Syndrome

MalaCards integrated aliases for Verheij Syndrome:

Name: Verheij Syndrome 57 20 58 72 36 29 6 39 70
Chromosome 8q24.3 Deletion Syndrome 57 20 72
Vrjs 57 72
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome 58
8q24.3 Microdeletion Syndrome 58
Deletion 8q24.3 58
Monosomy 8q24.3 58
Del(8)(q24.3) 58

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

31
verheij syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 615583
KEGG 36 H01800
MeSH 44 D000015
UMLS 70 C3810023

Summaries for Verheij Syndrome

GARD : 20 Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Verheij Syndrome, also known as chromosome 8q24.3 deletion syndrome, is related to coloboma of macula and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Verheij Syndrome is PUF60 (Poly(U) Binding Splicing Factor 60). Affiliated tissues include kidney, eye and heart, and related phenotypes are intellectual disability and global developmental delay

OMIM® : 57 Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013). (615583) (Updated 20-May-2021)

KEGG : 36 Verheij syndrome is rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay, cardiac and renal defects, and dysmorphic features. Overlapping interstitial microdeletions of chromosome 8q24 have been reported from patients of this disease. Recently, PUF60, which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype.

UniProtKB/Swiss-Prot : 72 Verheij syndrome: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects.

Related Diseases for Verheij Syndrome

Graphical network of the top 20 diseases related to Verheij Syndrome:



Diseases related to Verheij Syndrome

Symptoms & Phenotypes for Verheij Syndrome

Human phenotypes related to Verheij Syndrome:

58 31 (show top 50) (show all 167)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
4 short neck 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000470
5 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
6 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000431
7 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
8 short stature 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0004322
9 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
10 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
13 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0004209
14 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000219
15 long philtrum 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000343
16 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
17 microretrognathia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000308
18 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
19 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
20 broad nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000455
21 expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0002474
22 short middle phalanx of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004220
23 hypertrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0000998
24 generalized joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0002761
25 pes valgus 58 31 frequent (33%) Frequent (79-30%) HP:0008081
26 square face 58 31 frequent (33%) Frequent (79-30%) HP:0000321
27 asymmetry of the ears 58 31 frequent (33%) Frequent (79-30%) HP:0010722
28 nasogastric tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011470
29 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
30 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
31 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
32 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
33 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
34 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
35 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
36 pes planus 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001763
37 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
38 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
39 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
40 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
41 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
42 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
43 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
44 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
45 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000767
46 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
47 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001680
48 exocrine pancreatic insufficiency 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001738
49 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
50 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
hemivertebrae
fused vertebrae
vertebral abnormalities

Head And Neck Nose:
short nose
broad nasal root

Growth Height:
short stature

Skeletal Pelvis:
hip dislocation

Neurologic Central Nervous System:
cerebral atrophy
delayed psychomotor development

Skeletal Hands:
clinodactyly
short fifth fingers
malpositioned thumbs

Growth Other:
growth retardation

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib and puf60 genes

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
bitemporal narrowing

Genitourinary Kidneys:
renal hypoplasia
renal agenesis
renal cysts
renal fusion

Head And Neck Eyes:
coloboma

Head And Neck Mouth:
thin upper lip

Cardiovascular Heart:
septal defects

Skeletal Limbs:
elbow subluxation

Clinical features from OMIM®:

615583 (Updated 20-May-2021)

Drugs & Therapeutics for Verheij Syndrome

Search Clinical Trials , NIH Clinical Center for Verheij Syndrome

Genetic Tests for Verheij Syndrome

Genetic tests related to Verheij Syndrome:

# Genetic test Affiliating Genes
1 Verheij Syndrome 29 PUF60

Anatomical Context for Verheij Syndrome

MalaCards organs/tissues related to Verheij Syndrome:

40
Kidney, Eye, Heart, Pituitary, Brain, Lung

Publications for Verheij Syndrome

Articles related to Verheij Syndrome:

(show all 12)
# Title Authors PMID Year
1
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. 57 6
28471317 2017
2
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. 6 57
28074499 2017
3
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 57 6
24140112 2013
4
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 6 61
27804958 2016
5
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 57
28327570 2017
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
7
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. 57
19464398 2009
8
Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome. 61
32851780 2020
9
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. 61
30472487 2019
10
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. 61
30352594 2018
11
[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review]. 61
30078240 2018
12
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 61
28990276 2018

Variations for Verheij Syndrome

ClinVar genetic disease variations for Verheij Syndrome:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PUF60 NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) Deletion Pathogenic 802445 rs1586590135 GRCh37: 8:144903845-144903845
GRCh38: 8:143821675-143821675
2 PUF60 NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs) Indel Pathogenic 520432 rs1554642573 GRCh37: 8:144899572-144899573
GRCh38: 8:143817402-143817403
3 PUF60 NM_078480.3(PUF60):c.403_406TCTA[1] (p.Ile136fs) Microsatellite Pathogenic 599205 rs1563826453 GRCh37: 8:144900643-144900646
GRCh38: 8:143818473-143818476
4 PUF60 NM_078480.3(PUF60):c.1569dup (p.Glu524Ter) Duplication Pathogenic 973253 GRCh37: 8:144898800-144898801
GRCh38: 8:143816630-143816631
5 PUF60 NM_078480.3(PUF60):c.712_713del (p.Ser238fs) Microsatellite Pathogenic 975763 GRCh37: 8:144900136-144900137
GRCh38: 8:143817966-143817967
6 PUF60 NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) Insertion Pathogenic 975764 GRCh37: 8:144900102-144900103
GRCh38: 8:143817932-143817933
7 PUF60 NM_078480.3(PUF60):c.284_285del (p.Leu95fs) Deletion Pathogenic 975765 GRCh37: 8:144903779-144903780
GRCh38: 8:143821609-143821610
8 PUF60 NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) SNV Pathogenic 599206 rs1563819620 GRCh37: 8:144899118-144899118
GRCh38: 8:143816948-143816948
9 PUF60 NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) SNV Pathogenic 599207 rs1563823411 GRCh37: 8:144899869-144899869
GRCh38: 8:143817699-143817699
10 PUF60 NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) SNV Pathogenic 599208 rs1563818514 GRCh37: 8:144898922-144898922
GRCh38: 8:143816752-143816752
11 PUF60 NM_078480.3(PUF60):c.505C>T (p.His169Tyr) SNV Pathogenic 92112 rs398123001 GRCh37: 8:144900548-144900548
GRCh38: 8:143818378-143818378
12 PUF60 NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) SNV Pathogenic 545569 rs1554642022 GRCh37: 8:144899151-144899151
GRCh38: 8:143816981-143816981
13 PUF60 NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) SNV Pathogenic 425567 rs1085307135 GRCh37: 8:144900425-144900425
GRCh38: 8:143818255-143818255
14 overlap with 16 genes GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Pathogenic 625552 GRCh37: 8:144879444-145199846
GRCh38:
15 PUF60 NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) SNV Pathogenic 1034211 GRCh37: 8:144900221-144900221
GRCh38: 8:143818051-143818051
16 PUF60 NM_078480.3(PUF60):c.389G>A (p.Arg130His) SNV Pathogenic 488376 rs1554643584 GRCh37: 8:144900664-144900664
GRCh38: 8:143818494-143818494
17 PUF60 NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) Deletion Pathogenic 430808 rs1131692232 GRCh37: 8:144900596-144900604
GRCh38: 8:143818426-143818434
18 PUF60 NM_078480.3(PUF60):c.464del (p.Ile155fs) Deletion Likely pathogenic 928649 GRCh37: 8:144900589-144900589
GRCh38: 8:143818419-143818419
19 PUF60 NM_078480.3(PUF60):c.619_637del (p.Asn207fs) Deletion Likely pathogenic 425573 rs1554643142 GRCh37: 8:144900212-144900230
GRCh38: 8:143818042-143818060
20 PUF60 NM_078480.3(PUF60):c.612_630del (p.Asn207fs) Deletion Likely pathogenic 976784 GRCh37: 8:144900219-144900237
GRCh38: 8:143818049-143818067
21 PUF60 NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) SNV Likely pathogenic 986397 GRCh37: 8:144898899-144898899
GRCh38: 8:143816729-143816729
22 PUF60 NM_078480.3(PUF60):c.1558del (p.Ser520fs) Deletion Likely pathogenic 666578 rs1586555859 GRCh37: 8:144898812-144898812
GRCh38: 8:143816642-143816642
23 PUF60 NM_078480.3(PUF60):c.931del (p.Thr311fs) Deletion Likely pathogenic 800900 rs1586565506 GRCh37: 8:144899839-144899839
GRCh38: 8:143817669-143817669
24 PUF60 NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) SNV Likely pathogenic 982821 GRCh37: 8:144900163-144900163
GRCh38: 8:143817993-143817993
25 PUF60 NM_078480.3(PUF60):c.1381-2A>G SNV Likely pathogenic 374297 rs1057518681 GRCh37: 8:144898991-144898991
GRCh38: 8:143816821-143816821
26 PUF60 NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) SNV Uncertain significance 1031057 GRCh37: 8:144899168-144899168
GRCh38: 8:143816998-143816998
27 PUF60 NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) SNV Uncertain significance 1031058 GRCh37: 8:144898881-144898881
GRCh38: 8:143816711-143816711
28 PUF60 NM_078480.3(PUF60):c.603G>A (p.Lys201=) SNV Uncertain significance 1034210 GRCh37: 8:144900363-144900363
GRCh38: 8:143818193-143818193
29 PUF60 NM_078480.3(PUF60):c.24+1G>C SNV Uncertain significance 599204 rs1064795388 GRCh37: 8:144911449-144911449
GRCh38: 8:143829279-143829279
30 PUF60 NM_078480.3(PUF60):c.297+9C>T SNV Benign 931222 GRCh37: 8:144903758-144903758
GRCh38: 8:143821588-143821588
31 PUF60 NM_078480.3(PUF60):c.503_509del (p.Lys168fs) Deletion not provided 585122 rs1563825893 GRCh37: 8:144900544-144900550
GRCh38: 8:143818374-143818380

UniProtKB/Swiss-Prot genetic disease variations for Verheij Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 PUF60 p.His169Tyr VAR_070939 rs398123001

Expression for Verheij Syndrome

Search GEO for disease gene expression data for Verheij Syndrome.

Pathways for Verheij Syndrome

GO Terms for Verheij Syndrome

Sources for Verheij Syndrome

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