VRJS
MCID: VRH001
MIFTS: 27

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 53 59 75 37 29 6 40 73
Chromosome 8q24.3 Deletion Syndrome 57 53 75
Vrjs 57 75
8q24.3 Deletion Syndrome 59
Deletion 8q24.3 59
Monosomy 8q24.3 59
Del(8)(q24.3) 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth


HPO:

32
verheij syndrome:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Verheij Syndrome

NIH Rare Diseases : 53 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, heart and bone, and related phenotypes are short neck and clinodactyly

OMIM : 57 Verheij syndrome (VRJS) 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Verheij Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 clinodactyly 32 HP:0030084
3 scoliosis 32 HP:0002650
4 global developmental delay 32 HP:0001263
5 wide nasal bridge 32 HP:0000431
6 short nose 32 HP:0003196
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 long philtrum 32 HP:0000343
10 feeding difficulties 32 HP:0011968
11 hip dislocation 32 HP:0002827
12 renal hypoplasia 32 HP:0000089
13 thin upper lip vermilion 32 HP:0000219
14 hemivertebrae 32 HP:0002937
15 vertebral fusion 32 HP:0002948
16 cerebral atrophy 32 HP:0002059
17 renal agenesis 32 HP:0000104
18 renal cyst 32 HP:0000107
19 coloboma 32 HP:0000589
20 short 5th finger 32 HP:0009237
21 narrow forehead 32 HP:0000341
22 abnormal cardiac septum morphology 32 HP:0001671

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

26
# 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 29 PUF60

Anatomical Context for Verheij Syndrome

MalaCards organs/tissues related to Verheij Syndrome:

41
Kidney, Heart, Bone

Publications for Verheij Syndrome

Variations for Verheij Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 PUF60 p.His169Tyr VAR_070939 rs398123001

ClinVar genetic disease variations for Verheij Syndrome:

6 (show all 14)
# 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.449_457delCCCCCTTTG (p.Ala150_Phe152del) deletion Pathogenic rs1131692232 GRCh38 Chromosome 8, 143818426: 143818434
6 PUF60 NM_078480.2(PUF60): c.449_457delCCCCCTTTG (p.Ala150_Phe152del) deletion Pathogenic rs1131692232 GRCh37 Chromosome 8, 144900596: 144900604
7 PUF60 NM_078480.2(PUF60): c.389G> A (p.Arg130His) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143818494: 143818494
8 PUF60 NM_078480.2(PUF60): c.389G> A (p.Arg130His) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144900664: 144900664
9 PUF60 NM_078480.2(PUF60): c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC (p.Leu364Argfs) indel Pathogenic GRCh38 Chromosome 8, 143817402: 143817403
10 PUF60 NM_078480.2(PUF60): c.1072_1073delCTinsTTGACCCTGGCCCAGCCCC (p.Leu364Argfs) indel Pathogenic GRCh37 Chromosome 8, 144899572: 144899573
11 PUF60 NM_078480.2(PUF60): c.1309C> T (p.Gln437Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144899151: 144899151
12 PUF60 NM_078480.2(PUF60): c.1309C> T (p.Gln437Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143816981: 143816981
13 PUF60 NM_078480.2(PUF60): c.503_509del (p.Lys168Argfs) deletion not provided GRCh37 Chromosome 8, 144900544: 144900550
14 PUF60 NM_078480.2(PUF60): c.503_509del (p.Lys168Argfs) deletion not provided GRCh38 Chromosome 8, 143818374: 143818380

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 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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