DRS1
MCID: RBN018
MIFTS: 48

Robinow Syndrome, Autosomal Dominant 1 (DRS1)

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

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 1

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 1:

Name: Robinow Syndrome, Autosomal Dominant 1 56 73 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:



Summaries for Robinow Syndrome, Autosomal Dominant 1

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 network. Affiliated tissues include bone, tongue and eye, and related phenotypes are low-set ears and short neck

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.

Related Diseases for Robinow Syndrome, Autosomal Dominant 1

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



Diseases related to Robinow Syndrome, Autosomal Dominant 1

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 1

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 1:

31 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 very rare (1%) HP:0000369
2 short neck 31 very rare (1%) HP:0000470
3 high palate 31 very rare (1%) HP:0000218
4 depressed nasal bridge 31 very rare (1%) HP:0005280
5 narrow palate 31 very rare (1%) HP:0000189
6 short nose 31 very rare (1%) HP:0003196
7 anteverted nares 31 very rare (1%) HP:0000463
8 retrognathia 31 very rare (1%) HP:0000278
9 epicanthus 31 very rare (1%) HP:0000286
10 rhizomelia 31 very rare (1%) HP:0008905
11 small hand 31 very rare (1%) HP:0200055
12 thin upper lip vermilion 31 very rare (1%) HP:0000219
13 upslanted palpebral fissure 31 very rare (1%) HP:0000582
14 downturned corners of mouth 31 very rare (1%) HP:0002714
15 nail dysplasia 31 very rare (1%) HP:0002164
16 long eyelashes 31 very rare (1%) HP:0000527
17 oral cleft 31 very rare (1%) HP:0000202
18 bifid tongue 31 very rare (1%) HP:0010297
19 macrocephaly 31 HP:0000256
20 malar flattening 31 HP:0000272
21 hypertelorism 31 HP:0000316
22 pectus excavatum 31 HP:0000767
23 frontal bossing 31 HP:0002007
24 clinodactyly 31 HP:0030084
25 intellectual disability 31 HP:0001249
26 macroglossia 31 HP:0000158
27 global developmental delay 31 HP:0001263
28 delayed skeletal maturation 31 HP:0002750
29 inguinal hernia 31 HP:0000023
30 gingival overgrowth 31 HP:0000212
31 wide nasal bridge 31 HP:0000431
32 umbilical hernia 31 HP:0001537
33 brachydactyly 31 HP:0001156
34 cryptorchidism 31 HP:0000028
35 micrognathia 31 HP:0000347
36 downslanted palpebral fissures 31 HP:0000494
37 broad thumb 31 HP:0011304
38 midface retrusion 31 HP:0011800
39 long philtrum 31 HP:0000343
40 delayed eruption of teeth 31 HP:0000684
41 short palm 31 HP:0004279
42 flat face 31 HP:0012368
43 posteriorly rotated ears 31 HP:0000358
44 micropenis 31 HP:0000054
45 hydronephrosis 31 HP:0000126
46 proptosis 31 HP:0000520
47 dental crowding 31 HP:0000678
48 hypoplastic labia majora 31 HP:0000059
49 clitoral hypoplasia 31 HP:0000060
50 renal duplication 31 HP:0000075

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

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%)

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

Skin Nails Hair Skin:
nevus flammeus

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 10.46 MTREX
2 Decreased viability GR00221-A-2 10.46 ROR2
3 Decreased viability GR00221-A-3 10.46 ROR2
4 Decreased viability GR00221-A-4 10.46 ROR2
5 Decreased viability GR00231-A 10.46 ROR2
6 Decreased viability GR00240-S-1 10.46 EBNA1BP2 RSL24D1
7 Decreased viability GR00342-S-1 10.46 ROR2
8 Decreased viability GR00342-S-3 10.46 ROR2
9 Decreased viability GR00381-A-1 10.46 EBNA1BP2 NOP2 RPF2
10 Decreased viability GR00402-S-2 10.46 DDX49 DDX52 DVL3 EBNA1BP2 FTSJ3 GNL2
11 no effect GR00402-S-1 9.96 DDX49 DDX52 DVL3 EBNA1BP2 FTSJ3 GNL2
12 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.63 EBNA1BP2 GNL2 MTREX NOP2 NSA2 RSL24D1
13 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.62 EBNA1BP2 NOP2 NSA2 RSL24D1
14 Nuclear 60S biogenesis defects GR00209-A-3 8.8 GNL2 MDN1 RPF2

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

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

Genetic Tests for Robinow Syndrome, Autosomal Dominant 1

Anatomical Context for Robinow Syndrome, Autosomal Dominant 1

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

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

Publications for Robinow Syndrome, Autosomal Dominant 1

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. 56 6
24716670 2015
2
WNT5A mutations in patients with autosomal dominant Robinow syndrome. 56 6
19918918 2010
3
A newly recognized dwarfing syndrome. 56 6
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
A syndrome's progress. 56
4724110 1973
23
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). 56
4724117 1973
24
Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. 56
4125052 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

Variations for Robinow Syndrome, Autosomal Dominant 1

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

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

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

Expression for Robinow Syndrome, Autosomal Dominant 1

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

Pathways for Robinow Syndrome, Autosomal Dominant 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 WDR12 NOP2 MTREX DDX52 DDX49
2 10.6 WNT5A ROR2
3 10.28 WNT5A ROR2 DVL3

GO Terms for Robinow Syndrome, Autosomal Dominant 1

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 SURF6 RSL24D1 RPF2 PWP1
2 nucleoplasm GO:0005654 10.03 WDR74 WDR12 SURF6 RSL24D1 RPF2 NOP2
3 preribosome, large subunit precursor GO:0030687 9.5 WDR74 WDR12 RRP15 NSA2 NIP7 FTSJ3
4 nucleolus GO:0005730 9.5 WDR74 WDR12 SURF6 RSL24D1 RPF2 PWP1
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 WNT5A ROR2
6 nuclear exosome (RNase complex) GO:0000176 9.32 WDR74 MTREX

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ribosome biogenesis GO:0042254 9.7 WDR12 SURF6 RSL24D1 RPF2 PWP1 NSA2
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.69 WNT5A ROR2 DVL3
3 ribosomal large subunit biogenesis GO:0042273 9.63 WDR74 WDR12 SURF6 RPF2 NIP7 EBNA1BP2
4 ribosomal large subunit assembly GO:0000027 9.56 RSL24D1 RPF2 NOP2 MDN1
5 non-canonical Wnt signaling pathway GO:0035567 9.54 WNT5A DVL3
6 positive regulation of JUN kinase activity GO:0043507 9.54 WNT5A ROR2 DVL3
7 regulation of cellular protein localization GO:1903827 9.52 WNT5A DVL3
8 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000463 9.5 WDR12 RPF2 FTSJ3
9 planar cell polarity pathway involved in neural tube closure GO:0090179 9.49 WNT5A DVL3
10 positive regulation of neuron projection arborization GO:0150012 9.48 WNT5A DVL3
11 positive regulation of protein kinase C activity GO:1900020 9.46 WNT5A ROR2
12 non-canonical Wnt signaling pathway via JNK cascade GO:0038031 9.43 WNT5A DVL3
13 maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000466 9.4 WDR12 FTSJ3
14 rRNA processing GO:0006364 9.36 WDR74 WDR12 RRP15 NSA2 NOP2 MTREX

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 9.4 SURF6 RSL24D1 RPF2 NSA2 NOP2 NIP7
3 RNA helicase activity GO:0003724 9.33 MTREX DDX52 DDX49
4 frizzled binding GO:0005109 9.13 WNT5A ROR2 DVL3

Sources for Robinow Syndrome, Autosomal Dominant 1

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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