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 29 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 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 Aldosterone synthesis and secretion. Affiliated tissues include heart, kidney and bone, and related phenotypes are hearing/vestibular/ear and nervous system

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 101)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 3 34.9 FZD2 DVL3
2 robinow syndrome, autosomal recessive 1 34.7 WNT5A SRR ROR2 PRICKLE4 NXN ERCC6
3 robinow syndrome, autosomal dominant 2 34.5 FZD2 DVL3 DVL1 CYTH1 ATP9A ATP8A2
4 robinow syndrome, autosomal dominant 1 34.5 WNT5A WDR12 RPF2 ROR2 NSA2 GNL2
5 autosomal dominant robinow syndrome 34.3 WNT5A ROR2 FZD2 DVL3 DVL1
6 brachydactyly, type b1 31.4 WNT5A ROR2 DVL3
7 robinow syndrome, autosomal recessive 2 12.7
8 ror2-related robinow syndrome 12.3
9 fallopian tube serous adenocarcinoma 10.5 WNT5A ROR2
10 brachydactyly 10.5
11 dwarfism 10.5
12 hypertelorism 10.5
13 cerebellar ataxia, mental retardation and dysequlibrium syndrome 10.5 ATP9A ATP8A2 ATP8A1
14 congenital nervous system abnormality 10.5 PRICKLE4 ERCC6 EPRS1
15 cholestasis, progressive familial intrahepatic, 1 10.4 ATP9A ATP8A2 ATP8A1
16 brachydactyly, type b2 10.4 DVL3 DVL1
17 cholestasis, benign recurrent intrahepatic, 1 10.4 ATP9A ATP8A2 ATP8A1
18 physical disorder 10.4 PRICKLE4 ERCC6 EPRS1
19 chromosomal disease 10.3 IGF1 ERCC6 EPRS1
20 muscle tissue disease 10.2 IGF1 ERCC6 EPRS1
21 endosteal hyperostosis, autosomal dominant 10.2
22 cryptorchidism, unilateral or bilateral 10.2
23 scoliosis 10.2
24 cleft lip 10.2
25 mesomelia 10.2
26 specific developmental disorder 10.1 IGF1 ERCC6 EPRS1
27 split-hand/foot malformation 1 10.1
28 tricuspid atresia 10.1
29 umbilical hernia 10.1
30 hydronephrosis 10.1
31 heart disease 10.1
32 ventricular septal defect 10.1
33 heart septal defect 10.1
34 gingival hypertrophy 10.1
35 kidney disease 10.1
36 cleft lip/palate 10.1
37 isolated split hand-split foot malformation 10.1
38 thrombocytopenic purpura, autoimmune 10.1
39 branchiootic syndrome 1 10.1
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
41 sensorineural hearing loss 10.1
42 geographic tongue 10.1
43 hypogonadism 10.1
44 purpura 10.1
45 hypogonadotropism 10.1
46 splenomegaly 10.1
47 pfeiffer syndrome 9.9
48 ankyloglossia with or without tooth anomalies 9.9
49 cleft palate, isolated 9.9
50 diaphragmatic hernia, congenital 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 hearing/vestibular/ear MP:0005377 9.91 ATP8A2 DVL1 DVL3 ERCC6 FZD2 IGF1
2 nervous system MP:0003631 9.73 ATP8A2 CGA CYTH1 DVL1 DVL3 ERCC6
3 limbs/digits/tail MP:0005371 9.7 DVL3 EPRS1 ERCC6 IGF1 NXN ROR2
4 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

Genetic tests related to Robinow Syndrome:

# Genetic test Affiliating Genes
1 Robinow Syndrome 29 DVL1 DVL3 WNT5A

Anatomical Context for Robinow Syndrome

MalaCards organs/tissues related to Robinow Syndrome:

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

Publications for Robinow Syndrome

Articles related to Robinow Syndrome:

(show top 50) (show all 161)
# Title Authors PMID Year
1
WNT5A mutations in patients with autosomal dominant Robinow syndrome. 54 61 6
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. 54 61 6
10932186 2000
4
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 61 6
26924530 2016
5
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 61 6
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. 61 6
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. 54 61
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. 54 61
17665217 2007
21
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. 54 61
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. 54 61
10986040 2000
24
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape. 61
31892318 2019
25
Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome. 61
31617258 2019
26
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis. 61
31032853 2019
27
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
28
Main genetic entities associated with supernumerary teeth. 61
30457727 2018
29
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
30
Robinow syndrome: a diagnosis at the fingertips. 61
29864040 2018
31
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. 61
29575631 2018
32
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 61
29575616 2018
33
Surgical Management of Facial Features of Robinow Syndrome: A Case Report. 61
29610615 2018
34
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 61
29383834 2018
35
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 61
29276006 2018
36
Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. 61
28662348 2017
37
Robinow Syndrome and Fusion of Primary Teeth. 61
29042739 2017
38
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. 61
28680597 2017
39
Dental management and orofacial manifestations of a patient with Robinow Syndrome. 61
28955595 2017
40
ROR-Family Receptor Tyrosine Kinases. 61
28236965 2017
41
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. 61
27092434 2016
42
Syndromes with supernumerary teeth. 61
27250821 2016
43
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. 61
27544718 2016
44
Ror2 signaling is required for local upregulation of GDF6 and activation of BMP signaling at the neural plate border. 61
27578181 2016
45
Vertebral anomalies accompanying Robinow syndrome. 61
26674440 2016
46
Robinow Syndrome: A Rare Diagnosis. 61
26816964 2015
47
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. 61
26284319 2015
48
Robinow Syndrome: A Rare Case Report and Review of Literature. 61
26379386 2015
49
Null and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5a. 61
25190059 2014
50
Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system. 61
24753105 2014

Variations for Robinow Syndrome

ClinVar genetic disease variations for Robinow Syndrome:

6 (show top 50) (show all 178) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT5A NM_003392.4(WNT5A):c.545G>C (p.Cys182Ser)SNV Pathogenic 162615 rs869312850 3:55508504-55508504 3:55474476-55474476
2 WNT5A NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys)SNV Pathogenic 162612 rs786204836 3:55513476-55513476 3:55479448-55479448
3 DVL3 NM_004423.4(DVL3):c.1585del (p.Ala529fs)deletion Pathogenic 219218 rs869025215 3:183887876-183887876 3:184170088-184170088
4 DVL3 NM_004423.4(DVL3):c.1715-2A>GSNV Pathogenic 219219 rs869025216 3:183888105-183888105 3:184170317-184170317
5 DVL3 NM_004423.4(DVL3):c.1715-1G>ASNV Pathogenic 219220 rs869025217 3:183888106-183888106 3:184170318-184170318
6 DVL3 NM_004423.4(DVL3):c.1716del (p.Ser573fs)deletion Pathogenic 219221 rs869025218 3:183888108-183888108 3:184170320-184170320
7 DVL3 NM_004423.4(DVL3):c.1749del (p.Ser583fs)deletion Pathogenic 219222 rs869025219 3:183888141-183888141 3:184170353-184170353
8 WNT5A NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg)SNV Pathogenic 29819 rs387906663 3:55508505-55508505 3:55474477-55474477
9 WNT5A NM_003392.4(WNT5A):c.248G>C (p.Cys83Ser)SNV Pathogenic 29820 rs786200925 3:55513485-55513485 3:55479457-55479457
10 DVL3 NM_004423.4(DVL3):c.1715-2A>CSNV Pathogenic 694689 3:183888105-183888105 3:184170317-184170317
11 WNT5A NM_003392.4(WNT5A):c.487_492dup (p.Gly163_Cys164dup)duplication Likely pathogenic 488054 rs1553677967 3:55508556-55508557 3:55474528-55474529
12 WNT5A NM_003392.4(WNT5A):c.479C>G (p.Ser160Cys)SNV Likely pathogenic 488060 rs1553677971 3:55508570-55508570 3:55474542-55474542
13 WNT5A NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg)SNV Likely pathogenic 160316 rs587784562 3:55508562-55508562 3:55474534-55474534
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.141-9C>GSNV Conflicting interpretations of pathogenicity 160312 rs181894008 3:55513601-55513601 3:55479573-55479573
16 ROR2 NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)SNV Conflicting interpretations of pathogenicity 159819 rs41277835 9:94485971-94485971 9:91723689-91723689
17 ROR2 NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)SNV Conflicting interpretations of pathogenicity 159817 rs34491822 9:94486491-94486491 9:91724209-91724209
18 ROR2 NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)SNV Conflicting interpretations of pathogenicity 159824 rs371221714 9:94493389-94493389 9:91731107-91731107
19 ROR2 NM_004560.4(ROR2):c.1959G>A (p.Leu653=)SNV Conflicting interpretations of pathogenicity 159812 rs144549032 9:94486817-94486817 9:91724535-91724535
20 ROR2 NM_004560.4(ROR2):c.75G>A (p.Leu25=)SNV Conflicting interpretations of pathogenicity 159822 rs148237260 9:94712171-94712171 9:91949889-91949889
21 ROR2 NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)SNV Conflicting interpretations of pathogenicity 282760 rs56099091 9:94487106-94487106 9:91724824-91724824
22 WNT5A NM_003392.4(WNT5A):c.141-8C>TSNV Conflicting interpretations of pathogenicity 283810 rs188798140 3:55513600-55513600 3:55479572-55479572
23 ROR2 NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)SNV Conflicting interpretations of pathogenicity 284609 rs142386294 9:94487020-94487020 9:91724738-91724738
24 ROR2 NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)SNV Conflicting interpretations of pathogenicity 199096 rs141235720 9:94486381-94486381 9:91724099-91724099
25 ROR2 NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)SNV Conflicting interpretations of pathogenicity 287327 rs149826387 9:94486092-94486092 9:91723810-91723810
26 ROR2 NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)SNV Conflicting interpretations of pathogenicity 288137 rs34574788 9:94499727-94499727 9:91737445-91737445
27 ROR2 NM_004560.4(ROR2):c.678C>T (p.Phe226=)SNV Conflicting interpretations of pathogenicity 290687 rs202159869 9:94495663-94495663 9:91733381-91733381
28 WNT5A NM_003392.4(WNT5A):c.*1953dupduplication Conflicting interpretations of pathogenicity 346239 rs78756487 3:55502166-55502167 3:55468138-55468139
29 ROR2 NM_004560.4(ROR2):c.1491G>A (p.Pro497=)SNV Conflicting interpretations of pathogenicity 367504 rs146347005 9:94487285-94487285 9:91725003-91725003
30 ROR2 NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)SNV Conflicting interpretations of pathogenicity 367505 rs767474960 9:94487328-94487328 9:91725046-91725046
31 ROR2 NM_004560.4(ROR2):c.1234A>G (p.Ile412Val)SNV Uncertain significance 367508 rs1057515681 9:94488975-94488975 9:91726693-91726693
32 ROR2 NM_004560.4(ROR2):c.-135G>CSNV Uncertain significance 367524 rs1057515683 9:94712380-94712380 9:91950098-91950098
33 ROR2 NM_004560.4(ROR2):c.*682C>GSNV Uncertain significance 367485 rs1057515678 9:94485262-94485262 9:91722980-91722980
34 ROR2 NM_004560.4(ROR2):c.*180C>ASNV Uncertain significance 367492 rs542396423 9:94485764-94485764 9:91723482-91723482
35 ROR2 NM_004560.4(ROR2):c.1820C>T (p.Ser607Phe)SNV Uncertain significance 367500 rs769849104 9:94486956-94486956 9:91724674-91724674
36 ROR2 NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)SNV Uncertain significance 367507 rs149842671 9:94488902-94488902 9:91726620-91726620
37 WNT5A NM_003392.4(WNT5A):c.-503C>TSNV Uncertain significance 346280 rs886058750 3:55521516-55521516 3:55487488-55487488
38 WNT5A NM_001256105.1(WNT5A):c.*3932_*3933CT[3]short repeat Uncertain significance 346210 rs886058733 3:55500181-55500182 3:55466153-55466154
39 WNT5A NM_003392.4(WNT5A):c.*1655G>ASNV Uncertain significance 346246 rs867505595 3:55502465-55502465 3:55468437-55468437
40 WNT5A NM_001256105.1(WNT5A):c.*1444_*1445TA[5]short repeat Uncertain significance 346249 rs886058741 3:55502668-55502669 3:55468640-55468641
41 WNT5A NM_001256105.1(WNT5A):c.*1428_*1429TA[6]short repeat Uncertain significance 346252 rs374828022 3:55502679-55502680 3:55468651-55468652
42 WNT5A NM_003392.4(WNT5A):c.141-14T>CSNV Uncertain significance 346269 rs886058745 3:55513606-55513606 3:55479578-55479578
43 WNT5A NM_003392.4(WNT5A):c.-292G>CSNV Uncertain significance 346275 rs748087732 3:55521305-55521305 3:55487277-55487277
44 WNT5A NM_003392.4(WNT5A):c.-383G>ASNV Uncertain significance 346277 rs886058748 3:55521396-55521396 3:55487368-55487368
45 WNT5A NM_003392.4(WNT5A):c.-393C>TSNV Uncertain significance 346279 rs556605284 3:55521406-55521406 3:55487378-55487378
46 WNT5A NM_003392.4(WNT5A):c.-574C>ASNV Uncertain significance 346281 rs886058751 3:55521587-55521587 3:55487559-55487559
47 ROR2 NM_004560.4(ROR2):c.*487C>GSNV Uncertain significance 367489 rs970063320 9:94485457-94485457 9:91723175-91723175
48 ROR2 NM_004560.4(ROR2):c.*135G>TSNV Uncertain significance 367494 rs774621355 9:94485809-94485809 9:91723527-91723527
49 ROR2 NM_004560.4(ROR2):c.2190C>T (p.Asn730=)SNV Uncertain significance 367499 rs372509332 9:94486586-94486586 9:91724304-91724304
50 WNT5A NM_003392.4(WNT5A):c.*1952_*1953dupduplication Uncertain significance 346240 rs78756487 3:55502166-55502167 3:55468138-55468139

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 WNT5A FZD2 DVL3 DVL1 CGA
2
Show member pathways
12.68 WNT5A ROR2 FZD2 DVL3 DVL1
3 12.63 WNT5A IGF1 FZD2 DVL3 DVL1
4
Show member pathways
12.56 WNT5A IGF1 FZD2 DVL3 DVL1
5
Show member pathways
12.27 WNT5A IGF1 FZD2 DVL3 DVL1
6
Show member pathways
12.23 WNT5A ROR2 PRICKLE4 FZD2 DVL3 DVL1
7
Show member pathways
11.97 WNT5A ROR2 FZD2 DVL3 DVL1
8
Show member pathways
11.96 WNT5A IGF1 FZD2 DVL1
9 11.92 WNT5A FZD2 DVL3 DVL1
10 11.79 WNT5A DVL3 DVL1
11
Show member pathways
11.72 WNT5A IGF1 FZD2 DVL3 DVL1
12 11.5 WNT5A IGF1 FZD2 DVL3 DVL1
13 11.38 ROR2 DVL3 DVL1
14 10.99 WNT5A ROR2 FZD2
15
Show member pathways
10.74 DVL3 DVL1
16 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 8.8 WNT5A ROR2 FZD2

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

(show all 27)
# 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 positive regulation of cell migration GO:0030335 9.91 ROR2 IGF1 CGA ATP8A1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.9 WNT5A ROR2 DVL3 DVL1
4 positive regulation of neuron projection development GO:0010976 9.83 WNT5A ROR2 DVL1 ATP8A2
5 axonogenesis GO:0007409 9.8 WNT5A DVL1 ATP8A2
6 inner ear morphogenesis GO:0042472 9.78 WNT5A ROR2 ATP8A2
7 ribosome biogenesis GO:0042254 9.78 WDR12 RPF2 NSA2 GNL2
8 phospholipid transport GO:0015914 9.73 ATP9A ATP8A2 ATP8A1
9 Wnt signaling pathway GO:0016055 9.73 WNT5A ROR2 NXN FZD2 DVL3 DVL1
10 positive regulation of JUN kinase activity GO:0043507 9.72 WNT5A ROR2 DVL3
11 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.71 WNT5A ROR2 FZD2
12 canonical Wnt signaling pathway GO:0060070 9.71 WNT5A FZD2 DVL3 DVL1
13 phospholipid translocation GO:0045332 9.67 ATP9A ATP8A2 ATP8A1
14 positive regulation of G protein-coupled receptor signaling pathway GO:0045745 9.63 WNT5A FZD2
15 cochlea morphogenesis GO:0090103 9.63 WNT5A FZD2 DVL1
16 presynapse assembly GO:0099054 9.62 WNT5A DVL1
17 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000463 9.62 WDR12 RPF2
18 beta-catenin destruction complex disassembly GO:1904886 9.61 FZD2 DVL3 DVL1
19 positive regulation of protein kinase C activity GO:1900020 9.59 WNT5A ROR2
20 convergent extension involved in organogenesis GO:0060029 9.58 WNT5A DVL1
21 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.58 WNT5A DVL3
22 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.55 WNT5A ROR2 FZD2 DVL3 DVL1
23 regulation of cellular protein localization GO:1903827 9.54 WNT5A DVL3 DVL1
24 positive regulation of phospholipid translocation GO:0061092 9.51 ATP8A2 ATP8A1
25 positive regulation of neuron projection arborization GO:0150012 9.5 WNT5A DVL3 DVL1
26 non-canonical Wnt signaling pathway GO:0035567 9.26 WNT5A FZD2 DVL3 DVL1
27 planar cell polarity pathway involved in neural tube closure GO:0090179 8.92 WNT5A FZD2 DVL3 DVL1

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.7 SRR ROR2 ERCC6 EPRS1 ATP9A ATP8A2
2 magnesium ion binding GO:0000287 9.26 SRR ATP9A ATP8A2 ATP8A1
3 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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