DRS3
MCID: RBN020
MIFTS: 34

Robinow Syndrome, Autosomal Dominant 3 (DRS3)

Categories: Bone diseases, Eye 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 57 73 29 6
Drs3 57 12 73
Autosomal Dominant Robinow Syndrome 3 12 15
Syndrome, Robinow, Autosomal Dominant, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Robinow Syndrome, Autosomal Dominant 3

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 3, also known as drs3, is related to autosomal dominant robinow syndrome and robinow syndrome, autosomal dominant 2. An important gene associated with Robinow Syndrome, Autosomal Dominant 3 is DVL3 (Dishevelled Segment Polarity Protein 3), and among its related pathways/superpathways is Noncanonical Wnt signaling pathway. Affiliated tissues include heart and tongue, and related phenotypes are macrocephaly and frontal bossing

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 autosomal dominant robinow syndrome 10.0 FZD2 DVL3
2 robinow syndrome, autosomal dominant 2 9.9 FZD2 DVL3
3 fallopian tube disease 9.8 TJAP1 MAPK1IP1L

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 3

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 3:

31 (show top 50) (show all 52)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 frontal bossing 31 very rare (1%) HP:0002007
3 scoliosis 31 very rare (1%) HP:0002650
4 kyphosis 31 very rare (1%) HP:0002808
5 short neck 31 very rare (1%) HP:0000470
6 hearing impairment 31 very rare (1%) HP:0000365
7 depressed nasal bridge 31 very rare (1%) HP:0005280
8 gingival overgrowth 31 very rare (1%) HP:0000212
9 hypertelorism 31 very rare (1%) HP:0000316
10 dental malocclusion 31 very rare (1%) HP:0000689
11 wide nasal bridge 31 very rare (1%) HP:0000431
12 short nose 31 very rare (1%) HP:0003196
13 anteverted nares 31 very rare (1%) HP:0000463
14 short stature 31 very rare (1%) HP:0004322
15 broad thumb 31 very rare (1%) HP:0011304
16 cleft palate 31 very rare (1%) HP:0000175
17 cryptorchidism 31 very rare (1%) HP:0000028
18 micrognathia 31 very rare (1%) HP:0000347
19 low-set ears 31 very rare (1%) HP:0000369
20 webbed neck 31 very rare (1%) HP:0000465
21 epicanthus 31 very rare (1%) HP:0000286
22 upslanted palpebral fissure 31 very rare (1%) HP:0000582
23 brachydactyly 31 very rare (1%) HP:0001156
24 downturned corners of mouth 31 very rare (1%) HP:0002714
25 micropenis 31 very rare (1%) HP:0000054
26 patent ductus arteriosus 31 very rare (1%) HP:0001643
27 vesicoureteral reflux 31 very rare (1%) HP:0000076
28 long philtrum 31 very rare (1%) HP:0000343
29 proptosis 31 very rare (1%) HP:0000520
30 telecanthus 31 very rare (1%) HP:0000506
31 ventricular septal defect 31 very rare (1%) HP:0001629
32 high forehead 31 very rare (1%) HP:0000348
33 sacral dimple 31 very rare (1%) HP:0000960
34 blue sclerae 31 very rare (1%) HP:0000592
35 midface retrusion 31 very rare (1%) HP:0011800
36 anteriorly placed anus 31 very rare (1%) HP:0001545
37 omphalocele 31 very rare (1%) HP:0001539
38 long eyelashes 31 very rare (1%) HP:0000527
39 tricuspid regurgitation 31 very rare (1%) HP:0005180
40 short phalanx of finger 31 very rare (1%) HP:0009803
41 pulmonary artery atresia 31 very rare (1%) HP:0004935
42 clitoral hypoplasia 31 very rare (1%) HP:0000060
43 bifid tongue 31 very rare (1%) HP:0010297
44 mesomelia 31 very rare (1%) HP:0003027
45 camptodactyly 31 very rare (1%) HP:0012385
46 agenesis of permanent teeth 31 very rare (1%) HP:0006349
47 clinodactyly 31 very rare (1%) HP:0030084
48 triangular mouth 31 very rare (1%) HP:0000207
49 syndactyly 31 very rare (1%) HP:0001159
50 patent foramen ovale 31 very rare (1%) HP:0001655

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
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. 57 6
26924530 2016
2
Characterization of the lytic archaeal virus Drs3 infecting Methanobacterium formicicum. 61
30523430 2019
3
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.1749del (p.Ser583fs) Deletion Pathogenic 219222 rs869025219 3:183888141-183888141 3:184170353-184170353
3 DVL3 NM_004423.4(DVL3):c.1715-1G>A SNV 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.1715-2A>G SNV Pathogenic 219219 rs869025216 3:183888105-183888105 3:184170317-184170317
6 DVL3 NM_004423.4(DVL3):c.1592del (p.Pro531fs) Deletion Pathogenic 689755 rs1577052471 3:183887884-183887884 3:184170096-184170096
7 DVL3 NM_004423.4(DVL3):c.1715-1G>C SNV Likely pathogenic 800837 rs869025217 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
9 DVL3 NM_004423.4(DVL3):c.1120G>A (p.Ala374Thr) SNV Uncertain significance 930245 3:183884685-183884685 3:184166897-184166897
10 DVL3 NM_004423.4(DVL3):c.706A>G (p.Ser236Gly) SNV Uncertain significance 931200 3:183883222-183883222 3:184165434-184165434

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 10.1 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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