VRJS
MCID: VRH001
MIFTS: 29

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 Deletion 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 phenotypic variability
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 short neck and global developmental delay

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 115)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 Frequent (79-30%) HP:0000470
2 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
3 wide nasal bridge 60 33 Frequent (79-30%) HP:0000431
4 short stature 60 33 Very frequent (99-80%) HP:0004322
5 long philtrum 60 33 Frequent (79-30%) HP:0000343
6 thin upper lip vermilion 60 33 Frequent (79-30%) HP:0000219
7 short 5th finger 60 33 Occasional (29-5%) HP:0009237
8 narrow forehead 60 33 Occasional (29-5%) HP:0000341
9 pectus excavatum 60 Occasional (29-5%)
10 clinodactyly 33 HP:0030084
11 seizures 60 Occasional (29-5%)
12 dysphagia 60 Occasional (29-5%)
13 scoliosis 33 HP:0002650
14 inguinal hernia 60 Occasional (29-5%)
15 hip dysplasia 60 Occasional (29-5%)
16 pes planus 60 Occasional (29-5%)
17 short nose 33 HP:0003196
18 microcephaly 33 HP:0000252
19 smooth philtrum 60 Frequent (79-30%)
20 anteverted nares 60 Frequent (79-30%)
21 thick eyebrow 60 Occasional (29-5%)
22 gastroesophageal reflux 60 Occasional (29-5%)
23 feeding difficulties in infancy 60 Frequent (79-30%)
24 prominent forehead 60 Occasional (29-5%)
25 full cheeks 60 Frequent (79-30%)
26 feeding difficulties 33 HP:0011968
27 strabismus 60 Occasional (29-5%)
28 narrow chest 60 Occasional (29-5%)
29 patent ductus arteriosus 60 Occasional (29-5%)
30 respiratory distress 60 Occasional (29-5%)
31 micromelia 60 Occasional (29-5%)
32 epicanthus 60 Frequent (79-30%)
33 intrauterine growth retardation 60 Frequent (79-30%)
34 coarctation of aorta 60 Occasional (29-5%)
35 reduced visual acuity 60 Frequent (79-30%)
36 exocrine pancreatic insufficiency 60 Occasional (29-5%)
37 congenital hip dislocation 60 Occasional (29-5%)
38 joint laxity 60 Frequent (79-30%)
39 hip dislocation 33 HP:0002827
40 optic nerve hypoplasia 60 Occasional (29-5%)
41 intellectual disability, moderate 60 Very frequent (99-80%)
42 deeply set eye 60 Occasional (29-5%)
43 clinodactyly of the 5th finger 60 Frequent (79-30%)
44 abnormality of the kidney 60 Occasional (29-5%)
45 capillary hemangiomas 60 Occasional (29-5%)
46 upslanted palpebral fissure 60 Occasional (29-5%)
47 broad nasal tip 60 Frequent (79-30%)
48 vesicoureteral reflux 60 Occasional (29-5%)
49 renal hypoplasia 33 HP:0000089
50 ventricular septal defect 60 Occasional (29-5%)

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

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 25)
# 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_078489.2: c.1448T> C single nucleotide variant Pathogenic

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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