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DRS1
MCID: RBN018
MIFTS: 51

Robinow Syndrome, Autosomal Dominant 1 (DRS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 1

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MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 1:

Name: Robinow Syndrome, Autosomal Dominant 1 56 73 29 6
Drs1 56 12 73
Acral Dysostosis with Facial and Genital Abnormalities 56 73
Autosomal Dominant Robinow Syndrome 1 12 15
Fetal Face Syndrome 56 73
Robinow Dwarfism 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
see also autosomal recessive robinow syndrome


HPO:

31
robinow syndrome, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Reproductive diseases Nephrological diseases Bone diseases Smell/Taste diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Robinow Syndrome, Autosomal Dominant 1

About this section
OMIM : 56 Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310). (180700)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 1, also known as drs1, is related to autosomal dominant robinow syndrome and robinow syndrome. An important gene associated with Robinow Syndrome, Autosomal Dominant 1 is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways are rRNA processing in the nucleus and cytosol and Wnt signaling pathway. Affiliated tissues include tongue, eye and bone, and related phenotypes are depressed nasal bridge and narrow palate

Disease Ontology : 12 A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has material basis in heterozygous mutation in the WNT5A gene on chromosome 3p.

UniProtKB/Swiss-Prot : 73 Robinow syndrome, autosomal dominant 1: A disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally milder in dominant cases.

Sources

Related Diseases for Robinow Syndrome, Autosomal Dominant 1

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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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant robinow syndrome 32.3 WNT5A ROR2 DVL3 DVL1
2 robinow syndrome 30.1 WNT5A WDR12 RSL24D1 RPF2 ROR2 PWP1
3 ror2-related robinow syndrome 11.7
4 fallopian tube serous adenocarcinoma 10.3 WNT5A ROR2
5 brachydactyly, type b2 10.3 DVL3 DVL1
6 robinow syndrome, autosomal dominant 2 10.3
7 lateral ventricle meningioma 10.3 WDR74 NSA2
8 brachydactyly, type b1 10.2 WNT5A ROR2 DVL3 DVL1
9 failure of tooth eruption, primary 10.1 RPF2 MDN1
10 dysostosis 9.9
11 cardiomyopathy, familial restrictive, 1 9.9 NOP2 FTSJ3
12 hydrocephalus 9.7
13 communicating hydrocephalus 9.7
14 hemangioma 9.7
15 capillary hemangioma 9.7

Graphical network of the top 20 diseases related to Robinow Syndrome, Autosomal Dominant 1:



Diseases related to Robinow Syndrome, Autosomal Dominant 1
Sources

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 1

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Human phenotypes related to Robinow Syndrome, Autosomal Dominant 1:

31 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 very rare (1%) HP:0005280
2 narrow palate 31 very rare (1%) HP:0000189
3 short neck 31 very rare (1%) HP:0000470
4 short nose 31 very rare (1%) HP:0003196
5 anteverted nares 31 very rare (1%) HP:0000463
6 high palate 31 very rare (1%) HP:0000218
7 retrognathia 31 very rare (1%) HP:0000278
8 low-set ears 31 very rare (1%) HP:0000369
9 epicanthus 31 very rare (1%) HP:0000286
10 upslanted palpebral fissure 31 very rare (1%) HP:0000582
11 downturned corners of mouth 31 very rare (1%) HP:0002714
12 thin upper lip vermilion 31 very rare (1%) HP:0000219
13 small hand 31 very rare (1%) HP:0200055
14 nail dysplasia 31 very rare (1%) HP:0002164
15 long eyelashes 31 very rare (1%) HP:0000527
16 oral cleft 31 very rare (1%) HP:0000202
17 rhizomelia 31 very rare (1%) HP:0008905
18 bifid tongue 31 very rare (1%) HP:0010297
19 macroglossia 31 HP:0000158
20 intellectual disability 31 HP:0001249
21 global developmental delay 31 HP:0001263
22 delayed skeletal maturation 31 HP:0002750
23 inguinal hernia 31 HP:0000023
24 gingival overgrowth 31 HP:0000212
25 hypertelorism 31 HP:0000316
26 macrocephaly 31 HP:0000256
27 wide nasal bridge 31 HP:0000431
28 umbilical hernia 31 HP:0001537
29 broad thumb 31 HP:0011304
30 frontal bossing 31 HP:0002007
31 flat face 31 HP:0012368
32 cryptorchidism 31 HP:0000028
33 micrognathia 31 HP:0000347
34 pectus excavatum 31 HP:0000767
35 dental crowding 31 HP:0000678
36 downslanted palpebral fissures 31 HP:0000494
37 delayed eruption of teeth 31 HP:0000684
38 brachydactyly 31 HP:0001156
39 micropenis 31 HP:0000054
40 hydronephrosis 31 HP:0000126
41 long philtrum 31 HP:0000343
42 proptosis 31 HP:0000520
43 malar flattening 31 HP:0000272
44 renal duplication 31 HP:0000075
45 nevus flammeus 31 HP:0001052
46 midface retrusion 31 HP:0011800
47 wide anterior fontanel 31 HP:0000260
48 hypoplastic labia majora 31 HP:0000059
49 short palm 31 HP:0004279
50 posteriorly rotated ears 31 HP:0000358

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
short palate
triangular mouth (65%)
downturned corners of mouth (63%)
thin upper lip (50%)
more
Skin Nails Hair Skin:
nevus flammeus

Head And Neck Teeth:
delayed dental eruption
crowded teeth (49%)
infranumerary teeth (16%)
wide retromolar ridge

Skeletal Hands:
brachymesophalangism v
small hands (62%)
brachydactyly (81%)
clinodactyly (70%)
broad thumbs (36%)
more
Head And Neck Face:
flat facial profile
frontal bossing (79%)
long philtrum (65%)
micrognathia (57%)
midface hypoplasia (81%)
more
Head And Neck Eyes:
hypertelorism (100%)
wide palpebral fissures (50%)
upslanting palpebral fissures (37%)
epicanthal folds (39%)
prominent eyes (37%)
more
Head And Neck Neck:
short neck (29%)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (44%)

Genitourinary External Genitalia Male:
small penis (84%)
inguinal hernia (17%)

Genitourinary Internal Genitalia Male:
cryptorchidism (72%)

Skeletal Feet:
bifid terminal phalanges
broad toes (33%)

Neurologic Central Nervous System:
developmental delay (20%)
mental retardation (20%)

Genitourinary Kidneys:
hydronephrosis
renal duplication
renal anomalies (27%)

Head And Neck Ears:
posteriorly rotated ears
low-set ears (28%)

Skeletal:
delayed bone age

Head And Neck Head:
large anterior fontanel
macrocephaly (64%)

Growth Height:
short stature (postnatal onset) (81%)

Head And Neck Nose:
short, upturned nose (83%)
depressed nasal bridge (78%)
broad nasal bridge (97%)
anteverted nares (96%)

Cardiovascular Heart:
right ventricular outlet obstruction

Abdomen External Features:
umbilical hernia (32%)
abnormal umbilicus

Genitourinary External Genitalia Female:
small clitoris (46%)
small labia minora (50%)
small labia majora (35%)

Skeletal Limbs:
mesomelic limb shortening (80%)
rhizomelic limb shortening (35%)

Skin Nails Hair Nails:
nail dysplasia (22%)

Clinical features from OMIM:

180700

GenomeRNAi Phenotypes related to Robinow Syndrome, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.13 MTREX
2 Decreased viability GR00221-A-2 10.13 ROR2
3 Decreased viability GR00221-A-3 10.13 ROR2
4 Decreased viability GR00221-A-4 10.13 ROR2
5 Decreased viability GR00240-S-1 10.13 EBNA1BP2 RSL24D1
6 Decreased viability GR00249-S 10.13 DDX49 WDR74 WNT5A
7 Decreased viability GR00342-S-1 10.13 ROR2
8 Decreased viability GR00342-S-3 10.13 ROR2
9 Decreased viability GR00381-A-1 10.13 EBNA1BP2 NOP2 RPF2
10 Decreased viability GR00386-A-1 10.13 DVL1 EBNA1BP2 MTREX WDR12 WNT5A
11 Decreased viability GR00402-S-2 10.13 DDX49 EBNA1BP2 FTSJ3 GNL2 MDN1 NIP7
12 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.63 NSA2 RSL24D1
13 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.63 EBNA1BP2 NOP2 NSA2 RSL24D1
14 Nuclear 60S biogenesis defects GR00209-A-3 8.8 GNL2 MDN1 RPF2
Sources

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

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Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Dominant 1

Sources

Genetic Tests for Robinow Syndrome, Autosomal Dominant 1

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Genetic tests related to Robinow Syndrome, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Dominant 1 29 DVL1 DVL3 WNT5A
Sources

Anatomical Context for Robinow Syndrome, Autosomal Dominant 1

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MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 1:

40
Tongue, Eye, Bone, Brain, Liver, Testes
Sources

Publications for Robinow Syndrome, Autosomal Dominant 1

About this section

Articles related to Robinow Syndrome, Autosomal Dominant 1:

(show all 42)
# Title Authors PMID Year
1
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. 6 56
24716670 2015
2
WNT5A mutations in patients with autosomal dominant Robinow syndrome. 56 6
19918918 2010
3
A newly recognized dwarfing syndrome. 6 56
5771504 1969
4
Autosomal Dominant Robinow Syndrome 6
25577943 2015
5
Craniofacial and intraoral phenotype of Robinow syndrome forms. 56
21496006 2011
6
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 56
17256787 2007
7
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. 56
12839624 2003
8
Robinow syndrome. 56
12011143 2002
9
Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. 56
10213037 1999
10
A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. 56
8723569 1996
11
[2 cases of Robinow's syndrome with mental retardation]. 56
2805135 1989
12
Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. 56
3209680 1988
13
Robinow syndrome: report of two patients and review of literature. 56
3549067 1987
14
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. 56
3746837 1986
15
Umbilical dysmorphology. The importance of contemplating the belly button. 56
4064369 1985
16
[Robinow's syndrome with dominant transmission]. 56
7149891 1982
17
Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. 56
7091086 1982
18
Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis. 56
6122375 1982
19
The Robinow syndrome. 56
6971600 1980
20
The Robinow syndrome: an isolated case with a detailed study of the phenotype. 56
1121970 1975
21
Fetal face syndrome with acral dysostosis. 56
4838165 1974
22
Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. 56
4125052 1973
23
A syndrome's progress. 56
4724110 1973
24
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). 56
4724117 1973
25
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis. 61
31032853 2019
26
Functional analysis of overexpressed PtDRS1 involved in abiotic stresses enhances growth in transgenic poplar. 61
29494985 2018
27
Relative hypermetabolism of vermis cerebelli in traumatic brain injured patients studied with 18FDG PET: a descriptor of brain damage and a possible predictor of outcome. 61
22191657 2011
28
Rational association of genes with traits using a genome-scale gene network for Arabidopsis thaliana. 61
20118918 2010
29
Comparability of weighed dietary records and a self-administered diet history questionnaire for estimating monetary cost of dietary energy. 61
21572846 2008
30
Auditory event-related potentials in Parkinson's disease: prominent correlation with attention. 61
17329143 2007
31
Characterization of novel genes expressed specifically in the sexual organs of the planarian Dugesia ryukyuensis. 61
17554688 2007
32
A vector for double epitope tagging with a recyclable marker. 61
16862609 2006
33
Comprehensive mutational analysis of yeast DEXD/H box RNA helicases involved in large ribosomal subunit biogenesis. 61
16449635 2006
34
Saccharomyces cerevisiae nucleolar protein Nop7p is necessary for biogenesis of 60S ribosomal subunits. 61
11911362 2002
35
Depth of lesion model in children and adolescents with moderate to severe traumatic brain injury: use of SPGR MRI to predict severity and outcome. 61
11181858 2001
36
Genomic organization of the rat aspartyl-tRNA synthetase gene family: a single active gene and several retropseudogenes. 61
8973367 1996
37
Sequence analysis of the CEN12 region of Saccharomyces cerevisiae on a 43.7 kb fragment of chromosome XII including an open reading frame homologous to the human cystic fibrosis transmembrane conductance regulator protein CFTR. 61
8810043 1996
38
Identification and characterisation of two transcriptional repressor elements within the coding sequence of the Saccharomyces cerevisiae HXK2 gene. 61
8657561 1996
39
Yeast intragenic transcriptional control: activation and repression sites within the coding region of the Saccharomyces cerevisiae LPD1 gene. 61
8264590 1994
40
DRS1 to DRS7, novel genes required for ribosome assembly and function in Saccharomyces cerevisiae. 61
8247005 1993
41
A putative ATP-dependent RNA helicase involved in Saccharomyces cerevisiae ribosome assembly. 61
1454790 1992
42
Molecular cloning and primary structure of cDNA encoding the catalytic domain of rat liver aspartyl-tRNA synthetase. 61
2642907 1989
Sources

Variations for Robinow Syndrome, Autosomal Dominant 1

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ClinVar genetic disease variations for Robinow Syndrome, Autosomal Dominant 1:

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

UniProtKB/Swiss-Prot genetic disease variations for Robinow Syndrome, Autosomal Dominant 1:

73
# Symbol AA change Variation ID SNP ID
1 WNT5A p.Cys83Ser VAR_066623 rs786200925
2 WNT5A p.Cys182Arg VAR_066629 rs387906663

Sources

Expression for Robinow Syndrome, Autosomal Dominant 1

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Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 1.
Sources

Pathways for Robinow Syndrome, Autosomal Dominant 1

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Pathways related to Robinow Syndrome, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.63 WDR12 NOP2 MTREX DDX52 DDX49
2
Wnt signaling pathway 36
Show member pathways
 12.06 WNT5A ROR2 DVL3 DVL1
3
Hippo signaling pathway 36
11.87 WNT5A DVL3 DVL1
4
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 11.81 WNT5A ROR2 DVL3 DVL1
5
Signaling pathways regulating pluripotency of stem cells 36
11.79 WNT5A DVL3 DVL1
6
DNA Damage Response (only ATM dependent) 1
11.64 WNT5A DVL3 DVL1
7
Non-Canonical Wnt Pathway 66
11.21 WNT5A ROR2 DVL3 DVL1
8
Wnt Signaling Pathway Netpath 1
11.06 ROR2 DVL3 DVL1
9
Wnt signaling network 1
10.92 WNT5A ROR2
10
WNT mediated activation of DVL 65
Show member pathways
 10.57 DVL3 DVL1
11
Noncanonical Wnt signaling pathway 1
10.4 WNT5A ROR2 DVL3 DVL1
Sources

GO Terms for Robinow Syndrome, Autosomal Dominant 1

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Cellular components related to Robinow Syndrome, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.06 WDR74 WDR12 RSL24D1 RPF2 PWP1 PAK1IP1
2 nucleoplasm GO:0005654 10 WDR74 WDR12 RSL24D1 RPF2 NOP2 NIP7
3 nucleolus GO:0005730 9.83 WDR74 WDR12 RSL24D1 RPF2 PWP1 PAK1IP1
4 nuclear exosome (RNase complex) GO:0000176 9.32 WDR74 MTREX
5 preribosome, large subunit precursor GO:0030687 9.17 WDR74 WDR12 NSA2 NIP7 MDN1 FTSJ3

Biological processes related to Robinow Syndrome, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.89 WNT5A ROR2 DVL3 DVL1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.87 WNT5A ROR2 DVL3 DVL1
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.8 WNT5A ROR2 DVL3 DVL1
4 regulation of signal transduction by p53 class mediator GO:1901796 9.79 RPF2 PAK1IP1 NOP2
5 positive regulation of neuron projection development GO:0010976 9.79 WNT5A ROR2 DVL1
6 canonical Wnt signaling pathway GO:0060070 9.76 WNT5A DVL3 DVL1
7 positive regulation of JUN kinase activity GO:0043507 9.7 WNT5A ROR2 DVL3
8 non-canonical Wnt signaling pathway GO:0035567 9.69 WNT5A DVL3 DVL1
9 maturation of 5.8S rRNA GO:0000460 9.65 WDR12 NSA2 MTREX
10 rRNA processing GO:0006364 9.65 WDR74 WDR12 NSA2 NOP2 MTREX MDN1
11 cochlea morphogenesis GO:0090103 9.63 WNT5A DVL1
12 regulation of cellular protein localization GO:1903827 9.63 WNT5A DVL3 DVL1
13 ribosomal large subunit biogenesis GO:0042273 9.63 WDR74 WDR12 RPF2 PAK1IP1 NIP7 EBNA1BP2
14 RNA methylation GO:0001510 9.62 NOP2 FTSJ3
15 ribosomal large subunit assembly GO:0000027 9.62 RSL24D1 RPF2 NOP2 MDN1
16 beta-catenin destruction complex disassembly GO:1904886 9.61 DVL3 DVL1
17 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000463 9.61 WDR12 RPF2 FTSJ3
18 presynapse assembly GO:0099054 9.6 WNT5A DVL1
19 positive regulation of protein kinase C activity GO:1900020 9.58 WNT5A ROR2
20 planar cell polarity pathway involved in neural tube closure GO:0090179 9.58 WNT5A DVL3 DVL1
21 convergent extension involved in organogenesis GO:0060029 9.56 WNT5A DVL1
22 maturation of LSU-rRNA GO:0000470 9.56 WDR12 RPF2 NSA2 NOP2
23 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.55 WNT5A DVL3
24 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000466 9.54 WDR12 FTSJ3
25 positive regulation of neuron projection arborization GO:0150012 9.54 WNT5A DVL3 DVL1
26 ribosome biogenesis GO:0042254 9.36 WDR12 RSL24D1 RPF2 PWP1 PAK1IP1 NSA2

Molecular functions related to Robinow Syndrome, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.43 MTREX DDX52 DDX49
2 RNA binding GO:0003723 9.36 RSL24D1 RPF2 NSA2 NOP2 NIP7 MTREX
3 RNA helicase activity GO:0003724 9.33 MTREX DDX52 DDX49
4 frizzled binding GO:0005109 9.26 WNT5A ROR2 DVL3 DVL1
Sources

Sources for Robinow Syndrome, Autosomal Dominant 1

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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