MCID: ATS082
MIFTS: 46

Autosomal Dominant Robinow Syndrome

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

Aliases & Classifications for Autosomal Dominant Robinow Syndrome

MalaCards integrated aliases for Autosomal Dominant Robinow Syndrome:

Name: Autosomal Dominant Robinow Syndrome 25 58
Syndrome, Robinow, Autosomal Dominant 39
Fetal Face Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant robinow syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Dominant Robinow Syndrome

MalaCards based summary : Autosomal Dominant Robinow Syndrome, also known as syndrome, robinow, autosomal dominant, is related to robinow syndrome, autosomal dominant 3 and robinow syndrome, autosomal dominant 2. An important gene associated with Autosomal Dominant Robinow Syndrome is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are Signaling by GPCR and Pathways of neurodegeneration - multiple diseases. Affiliated tissues include eye, tongue and testis, and related phenotypes are hypertelorism and wide nasal bridge

GeneReviews: NBK268648

Related Diseases for Autosomal Dominant 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 Autosomal Dominant Robinow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome, autosomal dominant 3 31.6 FZD2 DVL3
2 robinow syndrome, autosomal dominant 2 31.0 FZD2 DVL3 DVL1 CHN1
3 robinow syndrome, autosomal dominant 1 30.6 WNT5A ROR2 FZD2 DVL3 DVL1
4 robinow syndrome 30.3 WNT5A ROR2 FZD2 DVL3 DVL1 CHN1
5 robinow syndrome, autosomal recessive 1 28.9 WNT5A ROR2 FZD2 DVL3 DVL1
6 ror2-related robinow syndrome 11.2
7 osteochondrodysplasia 10.2
8 cryptorchidism, unilateral or bilateral 10.1
9 nail disorder, nonsyndromic congenital, 9 10.1
10 brachydactyly 10.1
11 scoliosis 10.1
12 cleft lip 10.1
13 wdr26-related intellectual disability 10.1
14 mesomelia 10.1
15 penis agenesis 10.1
16 cleft lip/palate 10.1
17 dysostosis 10.0
18 fallopian tube serous adenocarcinoma 9.9 WNT5A ROR2
19 hydrocephalus 9.8
20 communicating hydrocephalus 9.8
21 hemangioma 9.8
22 capillary hemangioma 9.8
23 exudative vitreoretinopathy 9.7 WNT5A DVL3 DVL1
24 double outlet right ventricle 9.7 DVL3 DVL1
25 omodysplasia 9.6 ROR2 FZD2
26 neural tube defects 9.6 WNT5A DVL3 DVL1
27 strabismus 9.4 WNT5A DVL3 DVL1 CHN1
28 brachydactyly, type b1 9.4 WNT5A ROR2 DVL3 DVL1

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



Diseases related to Autosomal Dominant Robinow Syndrome

Symptoms & Phenotypes for Autosomal Dominant Robinow Syndrome

Human phenotypes related to Autosomal Dominant Robinow Syndrome:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
6 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
7 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
8 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
9 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
10 short palm 58 31 hallmark (90%) Very frequent (99-80%) HP:0004279
11 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
12 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
13 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
14 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
15 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
16 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
17 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
20 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
21 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
22 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
23 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
24 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
25 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
26 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
27 hemivertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002937
28 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
29 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
30 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
31 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
32 curly eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0007665
33 median cleft lip and palate 58 31 frequent (33%) Frequent (79-30%) HP:0008501
34 severe short stature 58 31 frequent (33%) Frequent (79-30%) HP:0003510
35 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000060
36 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
37 long palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000637
38 euryblepharon 58 31 frequent (33%) Frequent (79-30%) HP:0012905
39 hypoplastic labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000064
40 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
41 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
42 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
43 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
44 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
45 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
46 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
47 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
48 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
49 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
50 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369

MGI Mouse Phenotypes related to Autosomal Dominant Robinow Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 DVL1 DVL3 FZD2 ROR2 WNT5A
2 embryo MP:0005380 9.72 DVL1 DVL3 FZD2 ROR2 WNT5A
3 craniofacial MP:0005382 9.67 DVL3 FZD2 ROR2 WNT5A
4 hearing/vestibular/ear MP:0005377 9.65 DVL1 DVL3 FZD2 ROR2 WNT5A
5 mortality/aging MP:0010768 9.63 CHN1 DVL1 DVL3 FZD2 ROR2 WNT5A
6 nervous system MP:0003631 9.43 CHN1 DVL1 DVL3 FZD2 ROR2 WNT5A
7 skeleton MP:0005390 9.02 DVL1 DVL3 FZD2 ROR2 WNT5A

Drugs & Therapeutics for Autosomal Dominant Robinow Syndrome

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

Genetic Tests for Autosomal Dominant Robinow Syndrome

Anatomical Context for Autosomal Dominant Robinow Syndrome

MalaCards organs/tissues related to Autosomal Dominant Robinow Syndrome:

40
Eye, Tongue, Testis

Publications for Autosomal Dominant Robinow Syndrome

Articles related to Autosomal Dominant Robinow Syndrome:

(show all 33)
# Title Authors PMID Year
1
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. 6 25 61
29276006 2018
2
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. 6 61 25
26924530 2016
3
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. 61 6 25
25817016 2015
4
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. 61 25 6
24716670 2015
5
WNT5A mutations in patients with autosomal dominant Robinow syndrome. 25 6 61
19918918 2010
6
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. 6 25
25817014 2015
7
Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation. 61 25
29575616 2018
8
An osteosclerotic form of Robinow syndrome. 6
25045061 2014
9
Prenatal diagnosis of Robinow syndrome: a case report. 61 25
24151023 2014
10
Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. 6
22431878 2012
11
Robinow syndrome in monozygotic twins with normal stature. 6
10319206 1999
12
A newly recognized dwarfing syndrome. 6
5771504 1969
13
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome. 25
27092434 2016
14
Gone without the WNT: a requirement for WNT5A in germ cell migration and testis development. 25
21957192 2012
15
Craniofacial and intraoral phenotype of Robinow syndrome forms. 25
21496006 2011
16
Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2. 25
21316585 2011
17
Cell/tissue-tropic functions of Wnt5a signaling in normal and cancer cells. 25
20359892 2010
18
Wnt-5A/Ror2 regulate expression of XPAPC through an alternative noncanonical signaling pathway. 25
17488628 2007
19
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 25
17256787 2007
20
Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context. 25
16602827 2006
21
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. 25
12839624 2003
22
Recessive Robinow syndrome: with emphasis on endocrine functions. 25
9826209 1998
23
Congenital heart disease in Robinow syndrome. 25
9600746 1998
24
Redefining the genital abnormality in the Robinow syndrome. -004. 25
9146662 1997
25
Congenital heart disease and Robinow syndrome: coincidence or an additional component of the syndrome? 25
2260599 1990
26
Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred. 61
32256301 2020
27
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis. 61
31032853 2019
28
Syndromes with supernumerary teeth. 61
27250821 2016
29
Robinow Syndrome: A Rare Diagnosis. 61
26816964 2015
30
Autosomal Dominant Robinow Syndrome 61
25577943 2015
31
RYK is not mutated in autosomal dominant Robinow syndrome. 61
23355721 2013
32
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. 61
20095987 2010
33
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. 61
17603805 2007

Variations for Autosomal Dominant Robinow Syndrome

ClinVar genetic disease variations for Autosomal Dominant Robinow Syndrome:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DVL1 NM_001330311.2(DVL1):c.1637del (p.Pro546fs) Deletion Pathogenic 208049 rs797044839 GRCh37: 1:1273434-1273434
GRCh38: 1:1338054-1338054
2 DVL1 NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) Deletion Pathogenic 208044 rs797044834 GRCh37: 1:1273479-1273491
GRCh38: 1:1338099-1338111
3 DVL1 NM_001330311.2(DVL1):c.1598del (p.Pro533fs) Deletion Pathogenic 219223 rs869025220 GRCh37: 1:1273473-1273473
GRCh38: 1:1338093-1338093
4 DVL1 NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs) Indel Pathogenic 208050 rs797044840 GRCh37: 1:1273413-1273420
GRCh38: 1:1338033-1338040
5 DVL1 NM_001330311.2(DVL1):c.1631del (p.Gly544fs) Deletion Pathogenic 984981 GRCh37: 1:1273440-1273440
GRCh38: 1:1338060-1338060
6 DVL3 NM_004423.4(DVL3):c.1592del (p.Pro531fs) Deletion Pathogenic 689755 rs1577052471 GRCh37: 3:183887884-183887884
GRCh38: 3:184170096-184170096
7 CHN1 NM_001822.7(CHN1):c.1106T>G (p.Ile369Ser) SNV Pathogenic 974781 GRCh37: 2:175666537-175666537
GRCh38: 2:174801809-174801809
8 DVL1 NM_001330311.2(DVL1):c.1547del (p.Thr516fs) Deletion Pathogenic 807594 rs1569684523 GRCh37: 1:1273524-1273524
GRCh38: 1:1338144-1338144
9 DVL1 NM_001330311.2(DVL1):c.1594del (p.Trp532fs) Deletion Pathogenic 208045 rs797044835 GRCh37: 1:1273477-1273477
GRCh38: 1:1338097-1338097
10 DVL1 NM_001330311.2(DVL1):c.1667del (p.Pro556fs) Deletion Pathogenic 981467 GRCh37: 1:1273404-1273404
GRCh38: 1:1338024-1338024
11 WNT5A NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg) SNV Pathogenic 29819 rs387906663 GRCh37: 3:55508505-55508505
GRCh38: 3:55474477-55474477
12 DVL3 NM_004423.4(DVL3):c.1585del (p.Ala529fs) Deletion Pathogenic 219218 rs869025215 GRCh37: 3:183887876-183887876
GRCh38: 3:184170088-184170088
13 DVL3 NM_004423.4(DVL3):c.1716del (p.Ser573fs) Deletion Pathogenic 219221 rs869025218 GRCh37: 3:183888108-183888108
GRCh38: 3:184170320-184170320
14 DVL3 NM_004423.4(DVL3):c.1715-2A>G SNV Pathogenic 219219 rs869025216 GRCh37: 3:183888105-183888105
GRCh38: 3:184170317-184170317
15 DVL3 NM_004423.4(DVL3):c.1749del (p.Ser583fs) Deletion Pathogenic 219222 rs869025219 GRCh37: 3:183888141-183888141
GRCh38: 3:184170353-184170353
16 DVL3 NM_004423.4(DVL3):c.1715-1G>A SNV Pathogenic 219220 rs869025217 GRCh37: 3:183888106-183888106
GRCh38: 3:184170318-184170318
17 DVL3 NM_004423.4(DVL3):c.1585del (p.Ala529fs) Deletion Pathogenic 219218 rs869025215 GRCh37: 3:183887876-183887876
GRCh38: 3:184170088-184170088
18 DVL3 NM_004423.4(DVL3):c.1749del (p.Ser583fs) Deletion Pathogenic 219222 rs869025219 GRCh37: 3:183888141-183888141
GRCh38: 3:184170353-184170353
19 DVL3 NM_004423.4(DVL3):c.1715-1G>A SNV Pathogenic 219220 rs869025217 GRCh37: 3:183888106-183888106
GRCh38: 3:184170318-184170318
20 DVL3 NM_004423.4(DVL3):c.1716del (p.Ser573fs) Deletion Pathogenic 219221 rs869025218 GRCh37: 3:183888108-183888108
GRCh38: 3:184170320-184170320
21 DVL3 NM_004423.4(DVL3):c.1715-2A>G SNV Pathogenic 219219 rs869025216 GRCh37: 3:183888105-183888105
GRCh38: 3:184170317-184170317
22 DVL1 NM_001330311.2(DVL1):c.1731del (p.Ser578fs) Deletion Pathogenic 504195 rs1553172962 GRCh37: 1:1271879-1271879
GRCh38: 1:1336499-1336499
23 DVL3 NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs) Deletion Pathogenic 817264 rs1577052785 GRCh37: 3:183888141-183888144
GRCh38: 3:184170353-184170356
24 DVL3 NM_004423.4(DVL3):c.1715-2A>C SNV Pathogenic 694689 rs869025216 GRCh37: 3:183888105-183888105
GRCh38: 3:184170317-184170317
25 FZD2 NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) SNV Pathogenic 617609 rs1568105666 GRCh37: 17:42636700-42636700
GRCh38: 17:44559332-44559332
26 FZD2 NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) SNV Pathogenic 617609 rs1568105666 GRCh37: 17:42636700-42636700
GRCh38: 17:44559332-44559332
27 FZD2 NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) Duplication Pathogenic 981470 GRCh37: 17:42635422-42635423
GRCh38: 17:44558054-44558055
28 WNT5A NM_003392.4(WNT5A):c.248G>C (p.Cys83Ser) SNV Pathogenic 29820 rs786200925 GRCh37: 3:55513485-55513485
GRCh38: 3:55479457-55479457
29 WNT5A NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys) SNV Pathogenic 162612 rs786204836 GRCh37: 3:55513476-55513476
GRCh38: 3:55479448-55479448
30 WNT5A NM_003392.4(WNT5A):c.545G>C (p.Cys182Ser) SNV Pathogenic 162615 rs869312850 GRCh37: 3:55508504-55508504
GRCh38: 3:55474476-55474476
31 DVL1 NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) Indel Pathogenic 208043 rs797044833 GRCh37: 1:1273425-1273426
GRCh38: 1:1338045-1338046
32 DVL1 NM_001330311.2(DVL1):c.1583del (p.Pro528fs) Deletion Pathogenic 208046 rs797044836 GRCh37: 1:1273488-1273488
GRCh38: 1:1338108-1338108
33 DVL1 NM_001330311.2(DVL1):c.1690del (p.Ser564fs) Deletion Pathogenic 208047 rs797044837 GRCh37: 1:1273381-1273381
GRCh38: 1:1338001-1338001
34 DVL1 NM_001330311.2(DVL1):c.1604del (p.Gly535fs) Deletion Pathogenic 208048 rs797044838 GRCh37: 1:1273467-1273467
GRCh38: 1:1338087-1338087
35 WNT5A NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg) SNV Likely pathogenic 160316 rs587784562 GRCh37: 3:55508562-55508562
GRCh38: 3:55474534-55474534
36 FZD2 NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) SNV Likely pathogenic 488061 rs1223920489 GRCh37: 17:42636356-42636356
GRCh38: 17:44558988-44558988
37 WNT5A NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) SNV Likely pathogenic 981471 GRCh37: 3:55513485-55513485
GRCh38: 3:55479457-55479457
38 WNT5A NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) SNV Likely pathogenic 981473 GRCh37: 3:55513486-55513486
GRCh38: 3:55479458-55479458
39 FZD2 NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) SNV Likely pathogenic 488061 rs1223920489 GRCh37: 17:42636356-42636356
GRCh38: 17:44558988-44558988
40 WNT5A NM_003392.4(WNT5A):c.487_492dup (p.Gly163_Cys164dup) Duplication Likely pathogenic 488054 rs1553677967 GRCh37: 3:55508556-55508557
GRCh38: 3:55474528-55474529
41 DVL1 NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) Duplication Likely pathogenic 931630 GRCh37: 1:1273387-1273388
GRCh38: 1:1338007-1338008
42 DVL3 NM_004423.4(DVL3):c.1715-2del Deletion Likely pathogenic 981469 GRCh37: 3:183888105-183888105
GRCh38: 3:184170317-184170317
43 DVL1 NM_001330311.2(DVL1):c.1715-1G>A SNV Likely pathogenic 981468 GRCh37: 1:1271896-1271896
GRCh38: 1:1336516-1336516
44 DVL3 NM_004423.4(DVL3):c.1715-1G>C SNV Likely pathogenic 800837 rs869025217 GRCh37: 3:183888106-183888106
GRCh38: 3:184170318-184170318
45 DVL3 NM_004423.4(DVL3):c.1617del (p.Gln539fs) Deletion Likely pathogenic 488049 rs1553811652 GRCh37: 3:183887912-183887912
GRCh38: 3:184170124-184170124
46 FZD2 NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) Indel Likely pathogenic 488052 rs1555657074 GRCh37: 17:42636357-42636358
GRCh38: 17:44558989-44558990
47 DVL1 NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) Duplication Likely pathogenic 488045 rs1553173372 GRCh37: 1:1273379-1273380
GRCh38: 1:1337999-1338000
48 FZD2 NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) SNV Likely pathogenic 488050 rs1555657073 GRCh37: 17:42636357-42636357
GRCh38: 17:44558989-44558989
49 DVL1 NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) Deletion Likely pathogenic 488047 rs1553173420 GRCh37: 1:1273488-1273500
GRCh38: 1:1338108-1338120
50 DVL1 NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) Deletion Likely pathogenic 488048 rs1553173368 GRCh37: 1:1273373-1273388
GRCh38: 1:1337993-1338008

Expression for Autosomal Dominant Robinow Syndrome

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

Pathways for Autosomal Dominant Robinow Syndrome

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 WNT5A ROR2 FZD2 DVL3 DVL1 CHN1
2
Show member pathways
13.11 WNT5A FZD2 DVL3 DVL1
3
Show member pathways
12.97 WNT5A ROR2 FZD2 DVL1
4
Show member pathways
12.73 WNT5A FZD2 DVL3 DVL1
5
Show member pathways
12.63 WNT5A FZD2 DVL3 DVL1
6 12.56 WNT5A FZD2 DVL3 DVL1
7
Show member pathways
12.56 WNT5A ROR2 FZD2 DVL3 DVL1
8
Show member pathways
12.46 WNT5A FZD2 DVL3 DVL1
9
Show member pathways
12.28 FZD2 DVL3 DVL1
10
Show member pathways
12.25 WNT5A FZD2 DVL3 DVL1
11
Show member pathways
12.22 WNT5A FZD2 DVL1
12 12.18 WNT5A FZD2 DVL1
13
Show member pathways
12.05 WNT5A FZD2 DVL3 DVL1
14 11.97 WNT5A FZD2 DVL1
15
Show member pathways
11.94 WNT5A FZD2 DVL1
16 11.88 WNT5A FZD2 DVL1
17 11.82 WNT5A FZD2 DVL3 DVL1
18
Show member pathways
11.8 WNT5A ROR2 FZD2 DVL3 DVL1
19 11.79 FZD2 DVL1 CHN1
20 11.75 WNT5A DVL3 DVL1
21 11.71 WNT5A FZD2 DVL3 DVL1
22 11.65 DVL3 DVL1
23 11.57 WNT5A ROR2 FZD2 DVL3 DVL1
24 11.46 FZD2 DVL1
25 11.36 ROR2 DVL3 DVL1
26 10.99 WNT5A ROR2 FZD2
27
Show member pathways
10.79 DVL3 DVL1
28 10.5 WNT5A ROR2 FZD2 DVL3 DVL1

GO Terms for Autosomal Dominant Robinow Syndrome

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.95 WNT5A ROR2 FZD2 DVL3 DVL1
2 positive regulation of transcription, DNA-templated GO:0045893 9.88 WNT5A ROR2 FZD2 DVL3
3 intracellular signal transduction GO:0035556 9.81 DVL3 DVL1 CHN1
4 positive regulation of GTPase activity GO:0043547 9.78 WNT5A DVL3 CHN1
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.78 WNT5A ROR2 DVL3 DVL1
6 positive regulation of protein phosphorylation GO:0001934 9.77 WNT5A DVL3 DVL1
7 positive regulation of neuron projection development GO:0010976 9.74 WNT5A ROR2 DVL1
8 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.69 WNT5A ROR2 FZD2
9 positive regulation of JUN kinase activity GO:0043507 9.67 WNT5A ROR2 DVL3
10 canonical Wnt signaling pathway GO:0060070 9.67 WNT5A FZD2 DVL3 DVL1
11 Wnt signaling pathway GO:0016055 9.65 WNT5A ROR2 FZD2 DVL3 DVL1
12 axonogenesis GO:0007409 9.64 WNT5A DVL1
13 cell fate commitment GO:0045165 9.64 WNT5A ROR2
14 inner ear morphogenesis GO:0042472 9.63 WNT5A ROR2
15 cochlea morphogenesis GO:0090103 9.63 WNT5A FZD2 DVL1
16 embryonic digit morphogenesis GO:0042733 9.62 WNT5A ROR2
17 JNK cascade GO:0007254 9.62 WNT5A ROR2
18 somitogenesis GO:0001756 9.61 WNT5A ROR2
19 beta-catenin destruction complex disassembly GO:1904886 9.61 FZD2 DVL3 DVL1
20 neural tube development GO:0021915 9.6 WNT5A DVL1
21 presynapse assembly GO:0099054 9.58 WNT5A DVL1
22 regulation of cellular protein localization GO:1903827 9.58 WNT5A DVL3 DVL1
23 positive regulation of protein kinase C activity GO:1900020 9.56 WNT5A ROR2
24 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.54 WNT5A DVL3
25 convergent extension involved in organogenesis GO:0060029 9.52 WNT5A DVL1
26 positive regulation of neuron projection arborization GO:0150012 9.5 WNT5A DVL3 DVL1
27 non-canonical Wnt signaling pathway GO:0035567 9.46 WNT5A FZD2 DVL3 DVL1
28 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.35 WNT5A ROR2 FZD2 DVL3 DVL1
29 planar cell polarity pathway involved in neural tube closure GO:0090179 8.92 WNT5A FZD2 DVL3 DVL1

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.16 DVL3 DVL1
2 Wnt-protein binding GO:0017147 8.96 ROR2 FZD2
3 frizzled binding GO:0005109 8.92 WNT5A ROR2 DVL3 DVL1

Sources for Autosomal Dominant Robinow Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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