VRJS
MCID: VRH001
MIFTS: 33

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 58 54 60 76 38 30 6 41 74
Chromosome 8q24.3 Deletion Syndrome 58 54 76
Vrjs 58 76
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome 60
8q24.3 Microdeletion Syndrome 60
Deletion 8q24.3 60
Monosomy 8q24.3 60
Del(8)(q24.3) 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

33
verheij syndrome:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Verheij Syndrome

NIH Rare Diseases : 54 Chromosome 8q24.3 deletionsyndromeis 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, is also known as chromosome 8q24.3 deletion syndrome. An important gene associated with Verheij Syndrome is PUF60 (Poly(U) Binding Splicing Factor 60). Affiliated tissues include kidney, eye and skin, and related phenotypes are global developmental delay and intellectual disability, moderate

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Verheij Syndrome

Human phenotypes related to Verheij Syndrome:

60 33 (show top 50) (show all 118)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, moderate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002342
3 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
4 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
5 smooth philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000319
6 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
7 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
8 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
9 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
10 reduced visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0007663
11 joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0001388
12 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
13 broad nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000455
14 thin upper lip vermilion 60 33 frequent (33%) Frequent (79-30%) HP:0000219
15 expressive language delay 60 33 frequent (33%) Frequent (79-30%) HP:0002474
16 posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000358
17 pes valgus 60 33 frequent (33%) Frequent (79-30%) HP:0008081
18 short middle phalanx of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004220
19 nasogastric tube feeding in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0011470
20 asymmetry of the ears 60 33 frequent (33%) Frequent (79-30%) HP:0010722
21 square face 60 33 frequent (33%) Frequent (79-30%) HP:0000321
22 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
23 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
24 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
25 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
26 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
27 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
28 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
29 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
30 prominent forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0011220
31 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
32 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
33 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
34 micromelia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002983
35 coarctation of aorta 60 33 occasional (7.5%) Occasional (29-5%) HP:0001680
36 exocrine pancreatic insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0001738
37 congenital hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001374
38 optic nerve hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000609
39 deeply set eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0000490
40 upslanted palpebral fissure 60 33 occasional (7.5%) Occasional (29-5%) HP:0000582
41 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
42 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
43 truncus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001660
44 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
45 pelvic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000125
46 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
47 highly arched eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0002553
48 oligohydramnios 60 33 occasional (7.5%) Occasional (29-5%) HP:0001562
49 long eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000527
50 short hallux 60 33 occasional (7.5%) Occasional (29-5%) HP:0010109

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
scoliosis
hemivertebrae
fused vertebrae
vertebral abnormalities

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

Growth Other:
growth retardation

Abdomen Gastrointestinal:
poor feeding

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

Skeletal Hands:
clinodactyly
short fifth fingers
malpositioned thumbs

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

Cardiovascular Heart:
septal defects

Head And Neck Mouth:
thin upper lip

Skeletal Limbs:
elbow subluxation

Clinical features from OMIM:

615583

GenomeRNAi Phenotypes related to Verheij Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 PUF60 SCRIB
2 Decreased shRNA abundance GR00251-A-2 9.23 PUF60 SCRIB

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 30 PUF60

Anatomical Context for Verheij Syndrome

MalaCards organs/tissues related to Verheij Syndrome:

42
Kidney, Eye, Skin, Brain, Pituitary

Publications for Verheij Syndrome

Articles related to Verheij Syndrome:

# Title Authors Year
1
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. ( 28074499 )
2017
2
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. ( 28471317 )
2017
3
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. ( 27804958 )
2016
4
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. ( 24140112 )
2013

Variations for Verheij Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 PUF60 p.His169Tyr VAR_070939 rs398123001

ClinVar genetic disease variations for Verheij Syndrome:

6 (show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 PUF60 NM_078480.2(PUF60): c.505C> T (p.His169Tyr) single nucleotide variant Pathogenic rs398123001 GRCh37 Chromosome 8, 144900548: 144900548
2 PUF60 NM_078480.2(PUF60): c.505C> T (p.His169Tyr) single nucleotide variant Pathogenic rs398123001 GRCh38 Chromosome 8, 143818378: 143818378
3 PUF60 NM_078480.2(PUF60): c.1381-2A> G single nucleotide variant Likely pathogenic rs1057518681 GRCh37 Chromosome 8, 144898991: 144898991
4 PUF60 NM_078480.2(PUF60): c.1381-2A> G single nucleotide variant Likely pathogenic rs1057518681 GRCh38 Chromosome 8, 143816821: 143816821
5 PUF60 NM_078480.2(PUF60): c.541G> A (p.Glu181Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1085307135 GRCh38 Chromosome 8, 143818255: 143818255
6 PUF60 NM_078480.2(PUF60): c.541G> A (p.Glu181Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1085307135 GRCh37 Chromosome 8, 144900425: 144900425
7 PUF60 NM_078480.2(PUF60): c.449_457delCCCCCTTTG (p.Ala150_Phe152del) deletion Pathogenic rs1131692232 GRCh38 Chromosome 8, 143818426: 143818434
8 PUF60 NM_078480.2(PUF60): c.449_457delCCCCCTTTG (p.Ala150_Phe152del) deletion Pathogenic rs1131692232 GRCh37 Chromosome 8, 144900596: 144900604
9 PUF60 NM_078480.2(PUF60): c.389G> A (p.Arg130His) single nucleotide variant Pathogenic rs1554643584 GRCh38 Chromosome 8, 143818494: 143818494
10 PUF60 NM_078480.2(PUF60): c.389G> A (p.Arg130His) single nucleotide variant Pathogenic rs1554643584 GRCh37 Chromosome 8, 144900664: 144900664
11 PUF60 NM_078480.2(PUF60): c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC (p.Leu364Argfs) indel Pathogenic rs1554642573 GRCh38 Chromosome 8, 143817402: 143817403
12 PUF60 NM_078480.2(PUF60): c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC (p.Leu364Argfs) indel Pathogenic rs1554642573 GRCh37 Chromosome 8, 144899572: 144899573
13 PUF60 NM_078480.2(PUF60): c.1309C> T (p.Gln437Ter) single nucleotide variant Pathogenic rs1554642022 GRCh37 Chromosome 8, 144899151: 144899151
14 PUF60 NM_078480.2(PUF60): c.1309C> T (p.Gln437Ter) single nucleotide variant Pathogenic rs1554642022 GRCh38 Chromosome 8, 143816981: 143816981
15 PUF60 NM_078480.2(PUF60): c.503_509del (p.Lys168Argfs) deletion not provided GRCh37 Chromosome 8, 144900544: 144900550
16 PUF60 NM_078480.2(PUF60): c.503_509del (p.Lys168Argfs) deletion not provided GRCh38 Chromosome 8, 143818374: 143818380
17 PUF60 NM_078480.2(PUF60): c.24+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143829279: 143829279
18 PUF60 NM_078480.2(PUF60): c.24+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144911449: 144911449
19 PUF60 NM_078480.2(PUF60): c.407_410delTCTA (p.Ile136Thrfs) deletion Pathogenic GRCh37 Chromosome 8, 144900643: 144900646
20 PUF60 NM_078480.2(PUF60): c.407_410delTCTA (p.Ile136Thrfs) deletion Pathogenic GRCh38 Chromosome 8, 143818473: 143818476
21 PUF60 NM_078480.2(PUF60): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144899118: 144899118
22 PUF60 NM_078480.2(PUF60): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143816948: 143816948
23 PUF60 NM_078480.2(PUF60): c.901A> T (p.Lys301Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144899869: 144899869
24 PUF60 NM_078480.2(PUF60): c.901A> T (p.Lys301Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143817699: 143817699
25 PUF60 NM_078480.2(PUF60): c.1448T> C (p.Val483Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144898922: 144898922
26 PUF60 NM_078480.2(PUF60): c.1448T> C (p.Val483Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143816752: 143816752
27 covers 16 genes, none of which curated to show dosage sensitivity GRCh37/hg19 8q24.3(chr8: 144879444-145199846) copy number loss Pathogenic GRCh37 Chromosome 8, 144879444: 145199846

Expression for Verheij Syndrome

Search GEO for disease gene expression data for Verheij Syndrome.

Pathways for Verheij Syndrome

GO Terms for Verheij Syndrome

Cellular components related to Verheij Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 8.62 PUF60 SCRIB

Molecular functions related to Verheij Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cadherin binding GO:0045296 8.62 PUF60 SCRIB

Sources for Verheij Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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