MCID: RBN002
MIFTS: 49

Robinow Syndrome

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

Aliases & Classifications for Robinow Syndrome

MalaCards integrated aliases for Robinow Syndrome:

Name: Robinow Syndrome 12 74 52 25 58 36 54 43 15
Acral Dysostosis with Facial and Genital Abnormalities 12 52 25 58
Fetal Face Syndrome 12 52 25 58
Robinow Dwarfism 12 52 25 58
Mesomelic Dwarfism-Small Genitalia Syndrome 52 25 58
Robinow-Silverman-Smith Syndrome 52 25 58
Robinow-Silverman Syndrome 25
Robinow's Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
robinow syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060254
KEGG 36 H00485
MeSH 43 C562492
NCIt 49 C85048
SNOMED-CT 67 76520005
ICD10 32 Q87.19
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C0265205
Orphanet 58 ORPHA97360
UMLS 71 C0265205

Summaries for Robinow Syndrome

Genetics Home Reference : 25 Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant. Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals also have distinctive facial features, such as a broad forehead, prominent and widely spaced eyes, a short nose with an upturned tip, a wide nasal bridge, and a broad and triangle-shaped mouth. Together, these facial features are sometimes described as "fetal facies" because they resemble the facial structure of a developing fetus. Other common features of autosomal recessive Robinow syndrome include underdeveloped genitalia in both males and females, and dental problems such as crowded teeth and overgrowth of the gums. Kidney and heart defects are also possible. Development is delayed in 10 to 15 percent of people with this condition, although intelligence is usually normal. Autosomal dominant Robinow syndrome has signs and symptoms that are similar to, but tend to be milder than, those of the autosomal recessive form. Abnormalities of the spine and ribs are rarely seen in the autosomal dominant form, and short stature is less pronounced. A variant form of autosomal dominant Robinow syndrome includes increased bone mineral density (osteosclerosis) affecting the bones of the skull in addition to the signs and symptoms listed above. This variant is called the osteosclerotic form of Robinow syndrome.

MalaCards based summary : Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal dominant 3 and robinow syndrome, autosomal recessive 1. An important gene associated with Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Wnt signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, heart and kidney, and related phenotypes are embryo and hearing/vestibular/ear

Disease Ontology : 12 A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.

NIH Rare Diseases : 52 Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive Robinow syndrome causes shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis ; fused or missing ribs; short stature ; and distinctive facial features. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene . Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form is additionally characterized by osteosclerosis . Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene. In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities and growth hormone to increase growth rate in affected children.

KEGG : 36 Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal dominant inheritance have been described. The phenotypic presentation in both types of RS overlaps; however, subtle variances in the severity of craniofacial, musculoskeletal, cardiovascular, and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system.

Wikipedia : 74 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 3 34.8 FZD2 DVL3
2 robinow syndrome, autosomal recessive 1 34.4 WNT5A SRR ROR2 PRICKLE4 NXN ERCC6
3 robinow syndrome, autosomal dominant 2 34.2 FZD2 DVL3 DVL1 CYTH1 ATP9A ATP8A2
4 autosomal dominant robinow syndrome 34.2 WNT5A ROR2 FZD2 DVL3 DVL1
5 robinow syndrome, autosomal dominant 1 34.1 WNT5A WDR12 RPF2 ROR2 NSA2 MDN1
6 brachydactyly, type b1 31.2 WNT5A ROR2 DVL3 DVL1
7 omodysplasia 30.6 ROR2 GPC4 FZD2
8 disorders of sexual development 30.5 IGF1 ERCC6 EPRS1
9 robinow syndrome, autosomal recessive 2 12.7
10 ror2-related robinow syndrome 12.3
11 brachydactyly 10.5
12 dwarfism 10.5
13 hypertelorism 10.5
14 fallopian tube serous adenocarcinoma 10.5 WNT5A ROR2
15 brachydactyly, type b2 10.4 DVL3 DVL1
16 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.3 ATP9A ATP8A2 ATP8A1
17 cholestasis, progressive familial intrahepatic, 1 10.3 ATP9A ATP8A2 ATP8A1
18 cholestasis, benign recurrent intrahepatic, 1 10.3 ATP9A ATP8A2 ATP8A1
19 muscle tissue disease 10.2 IGF1 ERCC6 EPRS1
20 mesomelia 10.2
21 endosteal hyperostosis, autosomal dominant 10.2
22 cryptorchidism, unilateral or bilateral 10.2
23 scoliosis 10.2
24 cleft lip 10.2
25 muscular disease 10.2 IGF1 ERCC6 EPRS1
26 split-hand/foot malformation 1 10.1
27 tricuspid atresia 10.1
28 umbilical hernia 10.1
29 hydronephrosis 10.1
30 heart disease 10.1
31 ventricular septal defect 10.1
32 heart septal defect 10.1
33 gingival hypertrophy 10.1
34 cleft lip/palate 10.1
35 isolated split hand-split foot malformation 10.1
36 thrombocytopenic purpura, autoimmune 10.1
37 branchiootic syndrome 1 10.1
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
39 sensorineural hearing loss 10.1
40 geographic tongue 10.1
41 hypogonadism 10.1
42 purpura 10.1
43 splenomegaly 10.1
44 specific developmental disorder 10.0 IGF1 ERCC6 EPRS1
45 pfeiffer syndrome 9.9
46 ankyloglossia with or without tooth anomalies 9.9
47 cleft palate, isolated 9.9
48 diaphragmatic hernia, congenital 9.9
49 macroglossia 9.9
50 migraine with or without aura 1 9.9

Graphical network of the top 20 diseases related to Robinow Syndrome:



Diseases related to Robinow Syndrome

Symptoms & Phenotypes for Robinow Syndrome

MGI Mouse Phenotypes related to Robinow Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.97 DVL1 DVL3 EPRS1 FZD2 NSA2 NXN
2 hearing/vestibular/ear MP:0005377 9.97 ATP8A2 DVL1 DVL3 ERCC6 FZD2 IGF1
3 mortality/aging MP:0010768 9.97 ATP8A2 DVL1 DVL3 EPRS1 ERCC6 FZD2
4 limbs/digits/tail MP:0005371 9.8 DVL3 EPRS1 ERCC6 IGF1 NXN ROR2
5 nervous system MP:0003631 9.7 ATP8A2 CYTH1 DVL1 DVL3 ERCC6 FZD2
6 skeleton MP:0005390 9.28 DVL1 DVL3 EPRS1 ERCC6 FZD2 IGF1

Drugs & Therapeutics for Robinow Syndrome

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome

Cochrane evidence based reviews: robinow syndrome

Genetic Tests for Robinow Syndrome

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

40
Bone, Heart, Kidney, Eye, Brain, Skin, Testes

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(show top 50) (show all 164)
# Title Authors PMID Year
1
WNT5A mutations in patients with autosomal dominant Robinow syndrome. 54 6 61
19918918 2010
2
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. 54 61 6
18831060 2008
3
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 6 54 61
10932186 2000
4
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 6 61
26924530 2016
5
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 6 61
25817014 2015
6
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 61 6
25817016 2015
7
Autosomal Dominant Robinow Syndrome 61 6
25577943 2015
8
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. 61 6
24716670 2015
9
An osteosclerotic form of Robinow syndrome. 61 6
25045061 2014
10
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. 61 6
22431878 2012
11
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. 61 6
16049033 2005
12
ROR2-Related Robinow Syndrome 61 6
20301418 2005
13
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 61 6
15952209 2005
14
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 61 6
10932187 2000
15
Robinow syndrome in monozygotic twins with normal stature. 6 61
10319206 1999
16
A newly recognized dwarfing syndrome. 6
5771504 1969
17
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 61 54
19640924 2009
18
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. 54 61
18353862 2008
19
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src. 54 61
18365018 2008
20
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. 61 54
17665217 2007
21
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. 61 54
17061261 2006
22
Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. 54 61
12548386 2003
23
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 61 54
10986040 2000
24
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability. 61
32195677 2020
25
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome. 61
31617258 2020
26
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. 61
32256301 2020
27
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article. 61
32172608 2020
28
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. 61
31892318 2019
29
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis. 61
31032853 2019
30
Genetic interactions between Ror2 and Wnt9a, Ror1 and Wnt9a and Ror2 and Ror1: Phenotypic analysis of the limb skeleton and palate in compound mutants. 61
30801848 2019
31
Main genetic entities associated with supernumerary teeth. 61
30457727 2018
32
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. 61
30521570 2018
33
Robinow syndrome: a diagnosis at the fingertips. 61
29864040 2018
34
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. 61
29575631 2018
35
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 61
29575616 2018
36
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. 61
29610615 2018
37
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 61
29383834 2018
38
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 61
29276006 2018
39
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. 61
28662348 2017
40
Robinow Syndrome and Fusion of Primary Teeth. 61
29042739 2017
41
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. 61
28680597 2017
42
ROR-Family Receptor Tyrosine Kinases. 61
28236965 2017
43
Dental management and orofacial manifestations of a patient with Robinow Syndrome. 61
28955595 2017
44
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. 61
27092434 2016
45
Syndromes with supernumerary teeth. 61
27250821 2016
46
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. 61
27544718 2016
47
Ror2 signaling is required for local upregulation of GDF6 and activation of BMP signaling at the neural plate border. 61
27578181 2016
48
Vertebral anomalies accompanying Robinow syndrome. 61
26674440 2016
49
Robinow Syndrome: A Rare Diagnosis. 61
26816964 2015
50
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. 61
26284319 2015

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6 (show top 50) (show all 106) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DVL3 NM_004423.4(DVL3):c.1715-2A>CSNV Pathogenic 694689 3:183888105-183888105 3:184170317-184170317
2 WNT5A NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg)SNV Pathogenic 29819 rs387906663 3:55508505-55508505 3:55474477-55474477
3 WNT5A NM_003392.4(WNT5A):c.248G>C (p.Cys83Ser)SNV Pathogenic 29820 rs786200925 3:55513485-55513485 3:55479457-55479457
4 DVL3 NM_004423.4(DVL3):c.1585del (p.Ala529fs)deletion Pathogenic 219218 rs869025215 3:183887876-183887876 3:184170088-184170088
5 DVL3 NM_004423.4(DVL3):c.1715-2A>GSNV Pathogenic 219219 rs869025216 3:183888105-183888105 3:184170317-184170317
6 DVL3 NM_004423.4(DVL3):c.1715-1G>ASNV Pathogenic 219220 rs869025217 3:183888106-183888106 3:184170318-184170318
7 DVL3 NM_004423.4(DVL3):c.1716del (p.Ser573fs)deletion Pathogenic 219221 rs869025218 3:183888108-183888108 3:184170320-184170320
8 DVL3 NM_004423.4(DVL3):c.1749del (p.Ser583fs)deletion Pathogenic 219222 rs869025219 3:183888141-183888141 3:184170353-184170353
9 WNT5A NM_003392.4(WNT5A):c.545G>C (p.Cys182Ser)SNV Pathogenic 162615 rs869312850 3:55508504-55508504 3:55474476-55474476
10 WNT5A NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys)SNV Pathogenic 162612 rs786204836 3:55513476-55513476 3:55479448-55479448
11 WNT5A NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg)SNV Likely pathogenic 160316 rs587784562 3:55508562-55508562 3:55474534-55474534
12 WNT5A NM_003392.4(WNT5A):c.487_492dup (p.Gly163_Cys164dup)duplication Likely pathogenic 488054 rs1553677967 3:55508556-55508557 3:55474528-55474529
13 WNT5A NM_003392.4(WNT5A):c.479C>G (p.Ser160Cys)SNV Likely pathogenic 488060 rs1553677971 3:55508570-55508570 3:55474542-55474542
14 WNT5A NM_003392.4(WNT5A):c.141-8C>GSNV Conflicting interpretations of pathogenicity 160311 rs188798140 3:55513600-55513600 3:55479572-55479572
15 WNT5A NM_003392.4(WNT5A):c.141-8C>TSNV Conflicting interpretations of pathogenicity 283810 rs188798140 3:55513600-55513600 3:55479572-55479572
16 WNT5A NM_003392.4(WNT5A):c.141-9C>GSNV Conflicting interpretations of pathogenicity 160312 rs181894008 3:55513601-55513601 3:55479573-55479573
17 WNT5A NM_003392.4(WNT5A):c.*1953dupduplication Conflicting interpretations of pathogenicity 346239 rs78756487 3:55502166-55502167 3:55468138-55468139
18 WNT5A NM_003392.4(WNT5A):c.391+11A>GSNV Uncertain significance 160314 rs6790979 3:55513331-55513331 3:55479303-55479303
19 WNT5A NM_003392.4(WNT5A):c.*1440T>CSNV Uncertain significance 346253 rs886058743 3:55502680-55502680 3:55468652-55468652
20 WNT5A NM_003392.4(WNT5A):c.140+14A>GSNV Uncertain significance 160310 rs139616809 3:55514799-55514799 3:55480771-55480771
21 WNT5A NM_003392.4(WNT5A):c.*2918A>GSNV Uncertain significance 346225 rs886058735 3:55501202-55501202 3:55467174-55467174
22 WNT5A NM_003392.4(WNT5A):c.*2811C>TSNV Uncertain significance 346227 rs886058736 3:55501309-55501309 3:55467281-55467281
23 WNT5A NM_003392.4(WNT5A):c.-575G>ASNV Uncertain significance 346282 rs886058752 3:55521588-55521588 3:55487560-55487560
24 WNT5A NM_003392.4(WNT5A):c.-592G>TSNV Uncertain significance 346283 rs750801744 3:55521605-55521605 3:55487577-55487577
25 WNT5A NM_003392.4(WNT5A):c.*3125T>GSNV Uncertain significance 346222 rs745903896 3:55500995-55500995 3:55466967-55466967
26 WNT5A NM_003392.4(WNT5A):c.*2731dupduplication Uncertain significance 346228 rs886058737 3:55501388-55501389 3:55467360-55467361
27 WNT5A NM_003392.4(WNT5A):c.*2728deldeletion Uncertain significance 346230 rs142609857 3:55501392-55501392 3:55467364-55467364
28 WNT5A NM_003392.4(WNT5A):c.*4142G>TSNV Uncertain significance 346207 rs886058731 3:55499978-55499978 3:55465950-55465950
29 WNT5A NM_003392.4(WNT5A):c.*4127C>TSNV Uncertain significance 346208 rs886058732 3:55499993-55499993 3:55465965-55465965
30 WNT5A NM_003392.4(WNT5A):c.*1952_*1953deldeletion Uncertain significance 346241 rs78756487 3:55502167-55502168 3:55468139-55468140
31 WNT5A NM_003392.4(WNT5A):c.*1952_*1953dupduplication Uncertain significance 346240 rs78756487 3:55502166-55502167 3:55468138-55468139
32 WNT5A NM_003392.4(WNT5A):c.*1446T>ASNV Uncertain significance 346250 rs886058742 3:55502674-55502674 3:55468646-55468646
33 WNT5A NM_001256105.1(WNT5A):c.*1428_*1429TA[8]short repeat Uncertain significance 346251 rs374828022 3:55502678-55502679 3:55468650-55468651
34 WNT5A NM_003392.4(WNT5A):c.*2711_*2713deldeletion Uncertain significance 346231 rs760058727 3:55501407-55501409 3:55467379-55467381
35 WNT5A NM_003392.4(WNT5A):c.141-9C>TSNV Uncertain significance 160313 rs181894008 3:55513601-55513601 3:55479573-55479573
36 WNT5A NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr)SNV Uncertain significance 162613 rs786204837 3:55513527-55513527 3:55479499-55479499
37 WNT5A NM_003392.4(WNT5A):c.*3721C>TSNV Uncertain significance 346213 rs748691130 3:55500399-55500399 3:55466371-55466371
38 WNT5A NM_003392.4(WNT5A):c.*2728_*2730deldeletion Uncertain significance 346229 rs886058738 3:55501390-55501392 3:55467362-55467364
39 WNT5A NM_003392.4(WNT5A):c.*2711deldeletion Uncertain significance 346232 rs374459457 3:55501409-55501409 3:55467381-55467381
40 WNT5A NM_003392.4(WNT5A):c.*2485A>GSNV Uncertain significance 346234 rs886058739 3:55501635-55501635 3:55467607-55467607
41 WNT5A NM_003392.4(WNT5A):c.*1791G>TSNV Uncertain significance 346243 rs886058740 3:55502329-55502329 3:55468301-55468301
42 WNT5A NM_003392.4(WNT5A):c.685A>G (p.Thr229Ala)SNV Uncertain significance 346268 rs886058744 3:55504578-55504578 3:55470550-55470550
43 WNT5A NM_003392.4(WNT5A):c.-393_-391deldeletion Uncertain significance 346278 rs886058749 3:55521404-55521406 3:55487376-55487378
44 WNT5A NM_003392.4(WNT5A):c.*4356T>CSNV Uncertain significance 346204 rs886058730 3:55499764-55499764 3:55465736-55465736
45 WNT5A NM_003392.4(WNT5A):c.41T>C (p.Leu14Ser)SNV Uncertain significance 346271 rs886058746 3:55514912-55514912 3:55480884-55480884
46 WNT5A NM_003392.4(WNT5A):c.-150C>TSNV Uncertain significance 346273 rs886058747 3:55521163-55521163 3:55487135-55487135
47 WNT5A NM_003392.4(WNT5A):c.-150C>GSNV Uncertain significance 346274 rs886058747 3:55521163-55521163 3:55487135-55487135
48 WNT5A NM_003392.4(WNT5A):c.*3661C>TSNV Uncertain significance 346215 rs201277187 3:55500459-55500459 3:55466431-55466431
49 WNT5A NM_003392.4(WNT5A):c.*3157G>ASNV Uncertain significance 346221 rs886058734 3:55500963-55500963 3:55466935-55466935
50 WNT5A NM_003392.4(WNT5A):c.*2053C>TSNV Uncertain significance 346236 rs772032186 3:55502067-55502067 3:55468039-55468039

Expression for Robinow Syndrome

Search GEO for disease gene expression data for Robinow Syndrome.

Pathways for Robinow Syndrome

Pathways related to Robinow Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

Pathways related to Robinow Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 WNT5A IGF1 FZD2 DVL3 DVL1
2
Show member pathways
12.7 WNT5A ROR2 FZD2 DVL3 DVL1
3 12.65 WNT5A IGF1 FZD2 DVL3 DVL1
4
Show member pathways
12.57 WNT5A IGF1 FZD2 DVL3 DVL1
5
Show member pathways
12.3 WNT5A IGF1 FZD2 DVL3 DVL1
6
Show member pathways
12.09 WNT5A IGF1 FZD2 DVL3 DVL1
7
Show member pathways
11.98 WNT5A IGF1 FZD2 DVL1
8
Show member pathways
11.97 WNT5A ROR2 FZD2 DVL3 DVL1
9 11.95 WNT5A FZD2 DVL3 DVL1
10
Show member pathways
11.94 WNT5A ROR2 PRICKLE4 GPC4 FZD2 DVL3
11 11.81 WNT5A IGF1 FZD2 DVL3 DVL1
12 11.79 WNT5A DVL3 DVL1
13 11.51 WNT5A ROR2 FZD2 DVL3 DVL1
14 11.4 ROR2 DVL3 DVL1
15 11.03 WNT5A ROR2 FZD2
16
Show member pathways
10.75 DVL3 DVL1
17 10.5 WNT5A ROR2 FZD2 DVL3 DVL1

GO Terms for Robinow Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated endocytic vesicle membrane GO:0030669 9.13 WNT5A ROR2 FZD2
2 preribosome, large subunit precursor GO:0030687 8.8 WDR12 NSA2 MDN1

Biological processes related to Robinow Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.04 WNT5A ROR2 IGF1 FZD2 DVL3 DVL1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.89 WNT5A ROR2 DVL3 DVL1
3 positive regulation of neuron projection development GO:0010976 9.83 WNT5A ROR2 DVL1 ATP8A2
4 ribosome biogenesis GO:0042254 9.8 WDR12 RPF2 NSA2
5 axonogenesis GO:0007409 9.8 WNT5A DVL1 ATP8A2
6 inner ear morphogenesis GO:0042472 9.78 WNT5A ROR2 ATP8A2
7 phospholipid transport GO:0015914 9.73 ATP9A ATP8A2 ATP8A1
8 positive regulation of JUN kinase activity GO:0043507 9.72 WNT5A ROR2 DVL3
9 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.71 WNT5A ROR2 FZD2
10 canonical Wnt signaling pathway GO:0060070 9.71 WNT5A FZD2 DVL3 DVL1
11 Wnt signaling pathway GO:0016055 9.7 WNT5A ROR2 NXN GPC4 FZD2 DVL3
12 phospholipid translocation GO:0045332 9.67 ATP9A ATP8A2 ATP8A1
13 cochlea morphogenesis GO:0090103 9.65 WNT5A FZD2 DVL1
14 maturation of 5.8S rRNA GO:0000460 9.64 WDR12 NSA2
15 positive regulation of G protein-coupled receptor signaling pathway GO:0045745 9.63 WNT5A FZD2
16 beta-catenin destruction complex disassembly GO:1904886 9.63 FZD2 DVL3 DVL1
17 presynapse assembly GO:0099054 9.62 WNT5A DVL1
18 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000463 9.61 WDR12 RPF2
19 maturation of LSU-rRNA GO:0000470 9.61 WDR12 RPF2 NSA2
20 positive regulation of protein kinase C activity GO:1900020 9.6 WNT5A ROR2
21 convergent extension involved in organogenesis GO:0060029 9.58 WNT5A DVL1
22 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.58 WNT5A DVL3
23 non-canonical Wnt signaling pathway GO:0035567 9.56 WNT5A FZD2 DVL3 DVL1
24 regulation of cellular protein localization GO:1903827 9.54 WNT5A DVL3 DVL1
25 positive regulation of phospholipid translocation GO:0061092 9.51 ATP8A2 ATP8A1
26 positive regulation of neuron projection arborization GO:0150012 9.5 WNT5A DVL3 DVL1
27 planar cell polarity pathway involved in neural tube closure GO:0090179 9.26 WNT5A FZD2 DVL3 DVL1
28 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.1 WNT5A ROR2 GPC4 FZD2 DVL3 DVL1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.92 SRR ROR2 MDN1 ERCC6 EPRS1 ATP9A
2 magnesium ion binding GO:0000287 9.56 SRR ATP9A ATP8A2 ATP8A1
3 ATP binding GO:0005524 9.56 SRR ROR2 MDN1 ERCC6 EPRS1 ATP9A
4 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 9.16 ROR2 GPC4
5 frizzled binding GO:0005109 8.92 WNT5A ROR2 DVL3 DVL1

Sources for Robinow Syndrome

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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