DRS3
MCID: RBN020
MIFTS: 35

Robinow Syndrome, Autosomal Dominant 3 (DRS3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 3

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 3:

Name: Robinow Syndrome, Autosomal Dominant 3 56 73 29 6
Drs3 56 12 73
Autosomal Dominant Robinow Syndrome 3 12 15

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
robinow syndrome, autosomal dominant 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Dominant 3

OMIM : 56 The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016). For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (268310). (616894)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 3, also known as drs3, is related to robinow syndrome and autosomal dominant robinow syndrome. An important gene associated with Robinow Syndrome, Autosomal Dominant 3 is DVL3 (Dishevelled Segment Polarity Protein 3), and among its related pathways/superpathways are Non-Canonical Wnt Pathway and Noncanonical Wnt signaling pathway. Affiliated tissues include eye, heart and tongue, and related phenotypes are hearing impairment and hypertelorism

Disease Ontology : 12 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has material basis in heterozygous mutation in the DVL3 gene on chromosome 3q27.

UniProtKB/Swiss-Prot : 73 Robinow syndrome, autosomal dominant 3: A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.

Related Diseases for Robinow Syndrome, Autosomal Dominant 3

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 1 Robinow Syndrome, Autosomal Recessive 1
Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 3
Robinow Syndrome, Autosomal Recessive 2 Autosomal Dominant Robinow Syndrome
Ror2-Related Robinow Syndrome

Diseases related to Robinow Syndrome, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 robinow syndrome 10.0 FZD2 DVL3
2 autosomal dominant robinow syndrome 9.9 FZD2 DVL3
3 robinow syndrome, autosomal dominant 2 9.8 FZD2 DVL3

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 3

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 3:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 short neck 31 occasional (7.5%) HP:0000470
4 scoliosis 31 occasional (7.5%) HP:0002650
5 kyphosis 31 occasional (7.5%) HP:0002808
6 macrocephaly 31 occasional (7.5%) HP:0000256
7 dental malocclusion 31 occasional (7.5%) HP:0000689
8 broad thumb 31 occasional (7.5%) HP:0011304
9 frontal bossing 31 occasional (7.5%) HP:0002007
10 low-set ears 31 occasional (7.5%) HP:0000369
11 webbed neck 31 occasional (7.5%) HP:0000465
12 epicanthus 31 occasional (7.5%) HP:0000286
13 telecanthus 31 occasional (7.5%) HP:0000506
14 blue sclerae 31 occasional (7.5%) HP:0000592
15 anteriorly placed anus 31 occasional (7.5%) HP:0001545
16 long eyelashes 31 occasional (7.5%) HP:0000527
17 short phalanx of finger 31 occasional (7.5%) HP:0009803
18 agenesis of permanent teeth 31 occasional (7.5%) HP:0006349
19 cleft lip 31 occasional (7.5%) HP:0410030
20 omphalocele 31 very rare (1%) HP:0001539
21 depressed nasal bridge 31 HP:0005280
22 gingival overgrowth 31 HP:0000212
23 wide nasal bridge 31 HP:0000431
24 short nose 31 HP:0003196
25 anteverted nares 31 HP:0000463
26 short stature 31 HP:0004322
27 cleft palate 31 HP:0000175
28 cryptorchidism 31 HP:0000028
29 micrognathia 31 HP:0000347
30 upslanted palpebral fissure 31 HP:0000582
31 brachydactyly 31 HP:0001156
32 downturned corners of mouth 31 HP:0002714
33 patent ductus arteriosus 31 HP:0001643
34 long philtrum 31 HP:0000343
35 proptosis 31 HP:0000520
36 ventricular septal defect 31 HP:0001629
37 midface retrusion 31 HP:0011800
38 tricuspid regurgitation 31 HP:0005180
39 pulmonary artery atresia 31 HP:0004935
40 mesomelia 31 HP:0003027
41 clinodactyly 31 HP:0030084
42 patent foramen ovale 31 HP:0001655
43 hypoplastic right heart 31 HP:0010954

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
wide nasal bridge
short nose
anteverted nares
low nasal bridge

Head And Neck Mouth:
cleft palate
cleft lip (in some patients)
gingival hyperplasia
downturned mouth
bilobed tongue

Skeletal Hands:
brachydactyly
clinodactyly
hypoplastic phalanges (in some patients)
broad thumb (in some patients)

Cardiovascular Heart:
ventricular septal defect
tricuspid regurgitation
patent foramen ovale
hypoplastic right heart
pulmonary atresia

Head And Neck Eyes:
upslanting palpebral fissures
prominent eyes
hypertelorism (in some patients)
epicanthal folds (in some patients)
long eyelashes (in some patients)
more
Head And Neck Neck:
short neck (in some patients)
webbed neck (in some patients)

Abdomen External Features:
omphalocele (in some patients)

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Teeth:
malocclusion (in some patients)
missing teeth (in some patients)

Skeletal Feet:
broad first toe (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (in 1 patient)

Growth Height:
short stature

Head And Neck Face:
micrognathia
long philtrum
midface hypoplasia
frontal bossing (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Limbs:
mesomelia

Abdomen Gastrointestinal:
anteriorly placed anus (rare)
short gut (rare)

Skeletal Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Head And Neck Ears:
hearing loss (rare)
low-set ears (rare)

Skeletal Skull:
macrocephaly (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomaly

Genitourinary External Genitalia Male:
buried penis (in 1 patient)

Clinical features from OMIM:

616894

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 3

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Dominant 3

Genetic Tests for Robinow Syndrome, Autosomal Dominant 3

Genetic tests related to Robinow Syndrome, Autosomal Dominant 3:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Dominant 3 29 DVL3

Anatomical Context for Robinow Syndrome, Autosomal Dominant 3

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 3:

40
Eye, Heart, Tongue

Publications for Robinow Syndrome, Autosomal Dominant 3

Articles related to Robinow Syndrome, Autosomal Dominant 3:

# Title Authors PMID Year
1
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 6 56
26924530 2016
2
Autosomal Dominant Robinow Syndrome 6
25577943 2015
3
Characterization of the lytic archaeal virus Drs3 infecting Methanobacterium formicicum. 61
30523430 2019
4
Characterization of novel genes expressed specifically in the sexual organs of the planarian Dugesia ryukyuensis. 61
17554688 2007

Variations for Robinow Syndrome, Autosomal Dominant 3

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Dominant 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DVL3 NM_004423.4(DVL3):c.1585del (p.Ala529fs)deletion Pathogenic 219218 rs869025215 3:183887876-183887876 3:184170088-184170088
2 DVL3 NM_004423.4(DVL3):c.1715-2A>GSNV Pathogenic 219219 rs869025216 3:183888105-183888105 3:184170317-184170317
3 DVL3 NM_004423.4(DVL3):c.1715-1G>ASNV Pathogenic 219220 rs869025217 3:183888106-183888106 3:184170318-184170318
4 DVL3 NM_004423.4(DVL3):c.1716del (p.Ser573fs)deletion Pathogenic 219221 rs869025218 3:183888108-183888108 3:184170320-184170320
5 DVL3 NM_004423.4(DVL3):c.1749del (p.Ser583fs)deletion Pathogenic 219222 rs869025219 3:183888141-183888141 3:184170353-184170353
6 DVL3 NM_004423.4(DVL3):c.1592del (p.Pro531fs)deletion Pathogenic 689755 3:183887884-183887884 3:184170096-184170096
7 DVL3 NM_004423.4(DVL3):c.1715-1G>CSNV Likely pathogenic 800837 3:183888106-183888106 3:184170318-184170318
8 FZD2 NM_001466.4(FZD2):c.1301G>T (p.Gly434Val)SNV Likely pathogenic 488050 rs1555657073 17:42636357-42636357 17:44558989-44558989

Expression for Robinow Syndrome, Autosomal Dominant 3

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 3.

Pathways for Robinow Syndrome, Autosomal Dominant 3

Pathways related to Robinow Syndrome, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.91 FZD2 DVL3
2 10.1 FZD2 DVL3

GO Terms for Robinow Syndrome, Autosomal Dominant 3

Biological processes related to Robinow Syndrome, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.32 FZD2 DVL3
2 canonical Wnt signaling pathway GO:0060070 9.26 FZD2 DVL3
3 non-canonical Wnt signaling pathway GO:0035567 9.16 FZD2 DVL3
4 beta-catenin destruction complex disassembly GO:1904886 8.96 FZD2 DVL3
5 planar cell polarity pathway involved in neural tube closure GO:0090179 8.62 FZD2 DVL3

Sources for Robinow Syndrome, Autosomal Dominant 3

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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