Robinow Syndrome, Autosomal Dominant 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Reproductive diseases Nephrological diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060766

OMIM ⁵⁶ 180700

OMIM Phenotypic Series ⁵⁶ PS268310

MeSH ⁴³ D004392 D014564 D017880 more

MedGen ⁴¹ C0265205 C4551475

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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.

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Related Diseases for Robinow Syndrome, Autosomal Dominant 1

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 12)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant robinow syndrome	32.2	WNT5A ROR2 DVL3
2	robinow syndrome	27.5	WNT5A WDR74 WDR12 SURF6 RSL24D1 RRP15
3	ror2-related robinow syndrome	11.7
4	robinow syndrome, autosomal dominant 2	10.3
5	fallopian tube serous adenocarcinoma	10.2	WNT5A ROR2
6	brachydactyly, type b1	10.1	WNT5A ROR2 DVL3
7	autosomal dominant non-syndromic intellectual disability 1	9.9	DDX52 DDX49
8	dysostosis	9.9
9	hydrocephalus	9.7
10	communicating hydrocephalus	9.7
11	hemangioma	9.7
12	capillary hemangioma	9.7

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

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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

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Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

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

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Genetic Tests for Robinow Syndrome, Autosomal Dominant 1

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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

Sources

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	Roifman M...Chitayat D	24716670	2015
2	WNT5A mutations in patients with autosomal dominant Robinow syndrome. ⁵⁶ ⁶	Person AD...Lohr JL	19918918	2010
3	A newly recognized dwarfing syndrome. ⁵⁶ ⁶	Robinow M...Smith HD	5771504	1969
4	Autosomal Dominant Robinow Syndrome ⁶	Roifman M...Chitayat D	25577943	2015
5	Craniofacial and intraoral phenotype of Robinow syndrome forms. ⁵⁶	Beiraghi S...Lohr JL	21496006	2011
6	Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. ⁵⁶	Mazzeu JF...Otto PA	17256787	2007
7	The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. ⁵⁶	Oishi I...Minami Y	12839624	2003
8	Robinow syndrome. ⁵⁶	Patton MA...Afzal AR	12011143	2002
9	Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. ⁵⁶	Kantaputra PN...Sudasna J	10213037	1999
10	A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. ⁵⁶	Turken A...Hicsonmez A	8723569	1996
11	[2 cases of Robinow's syndrome with mental retardation]. ⁵⁶	Baxova A...Dibarborova K	2805135	1989
12	Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. ⁵⁶	Israel H...Johnson GF	3209680	1988
13	Robinow syndrome: report of two patients and review of literature. ⁵⁶	Butler MG...Wadlington WB	3549067	1987
14	Robinow syndrome without mesomelic 'brachymelia': a report of five cases. ⁵⁶	Bain MD...Burn J	3746837	1986
15	Umbilical dysmorphology. The importance of contemplating the belly button. ⁵⁶	Friedman JM	4064369	1985
16	[Robinow's syndrome with dominant transmission]. ⁵⁶	Vallee L...Fontaine G	7149891	1982
17	Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. ⁵⁶	Shprintzen RJ...Sidoti EJ	7091086	1982
18	Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis. ⁵⁶	Lee PA...Robinow M	6122375	1982
19	The Robinow syndrome. ⁵⁶	Petit P...Perlmutter-Cremer N	6971600	1980
20	The Robinow syndrome: an isolated case with a detailed study of the phenotype. ⁵⁶	Kelly TE...Levin S	1121970	1975
21	Fetal face syndrome with acral dysostosis. ⁵⁶	Schinzel A...Prader A	4838165	1974
22	A syndrome's progress. ⁵⁶	Robinow M	4724110	1973
23	Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). ⁵⁶	Wadlington WB...Schimke RN	4724117	1973
24	Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. ⁵⁶	Vera-Roman JM	4125052	1973
25	Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis. ⁶¹	Gignac SJ...Richman JM	31032853	2019
26	Functional analysis of overexpressed PtDRS1 involved in abiotic stresses enhances growth in transgenic poplar. ⁶¹	Mohammadi K...Zhuge Q	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	Lupi A...Zanco P	22191657	2011
28	Rational association of genes with traits using a genome-scale gene network for Arabidopsis thaliana. ⁶¹	Lee I...Rhee SY	20118918	2010
29	Comparability of weighed dietary records and a self-administered diet history questionnaire for estimating monetary cost of dietary energy. ⁶¹	Murakami K...Date C	21572846	2008
30	Auditory event-related potentials in Parkinson's disease: prominent correlation with attention. ⁶¹	Matsui H...Udaka F	17329143	2007
31	Characterization of novel genes expressed specifically in the sexual organs of the planarian Dugesia ryukyuensis. ⁶¹	Hase S...Matsumoto M	17554688	2007
32	A vector for double epitope tagging with a recyclable marker. ⁶¹	Germino M...Germino J	16862609	2006
33	Comprehensive mutational analysis of yeast DEXD/H box RNA helicases involved in large ribosomal subunit biogenesis. ⁶¹	Bernstein KA...Baserga SJ	16449635	2006
34	Saccharomyces cerevisiae nucleolar protein Nop7p is necessary for biogenesis of 60S ribosomal subunits. ⁶¹	Adams CC...Woolford JL	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	Grados MA...Denckla MB	11181858	2001
36	Genomic organization of the rat aspartyl-tRNA synthetase gene family: a single active gene and several retropseudogenes. ⁶¹	Lazard M...Mirande M	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	Miosga T...Zimmermann FK	8810043	1996
38	Identification and characterisation of two transcriptional repressor elements within the coding sequence of the Saccharomyces cerevisiae HXK2 gene. ⁶¹	Herrero P...Moreno F	8657561	1996
39	Yeast intragenic transcriptional control: activation and repression sites within the coding region of the Saccharomyces cerevisiae LPD1 gene. ⁶¹	Sinclair DA...Dawes IW	8264590	1994
40	DRS1 to DRS7, novel genes required for ribosome assembly and function in Saccharomyces cerevisiae. ⁶¹	Ripmaster TL...Woolford JL	8247005	1993
41	A putative ATP-dependent RNA helicase involved in Saccharomyces cerevisiae ribosome assembly. ⁶¹	Ripmaster TL...Woolford JL	1454790	1992
42	Molecular cloning and primary structure of cDNA encoding the catalytic domain of rat liver aspartyl-tRNA synthetase. ⁶¹	Mirande M...Waller JP	2642907	1989

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Genes for Robinow Syndrome, Autosomal Dominant 1

Genes related to Robinow Syndrome, Autosomal Dominant 1 (2 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WNT5A	Wnt Family Member 5A	Protein Coding	1223.76	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25577943 5771504 24716670 (more) 19918918
2	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	408.58	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25577943
3	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	9.85	GeneCards inferred via : Variants (show sections)
4	RPF2	Ribosome Production Factor 2 Homolog	Protein Coding	8.38	DISEASES inferred ¹⁵
5	NSA2	NSA2 Ribosome Biogenesis Factor	Protein Coding	8.2	DISEASES inferred ¹⁵
6	GNL2	G Protein Nucleolar 2	Protein Coding	8.05	DISEASES inferred ¹⁵
7	WDR12	WD Repeat Domain 12	Protein Coding	8.01	DISEASES inferred ¹⁵
8	RSL24D1	Ribosomal L24 Domain Containing 1	Protein Coding	7.92	DISEASES inferred ¹⁵
9	DDX49	DEAD-Box Helicase 49	Protein Coding	7.9	DISEASES inferred ¹⁵
10	NIP7	Nucleolar Pre-RRNA Processing Protein NIP7	Protein Coding	7.64	DISEASES inferred ¹⁵
11	PWP1	PWP1 Homolog, Endonuclein	Protein Coding	7.63	DISEASES inferred ¹⁵
12	MTREX	Mtr4 Exosome RNA Helicase	Protein Coding	7.5	DISEASES inferred ¹⁵
13	DDX52	DExD-Box Helicase 52	Protein Coding	7.47	DISEASES inferred ¹⁵
14	EBNA1BP2	EBNA1 Binding Protein 2	Protein Coding	7.44	DISEASES inferred ¹⁵
15	MDN1	Midasin AAA ATPase 1	Protein Coding	7.41	DISEASES inferred ¹⁵
16	NOP2	NOP2 Nucleolar Protein	Protein Coding	7.39	DISEASES inferred ¹⁵
17	RRP15	Ribosomal RNA Processing 15 Homolog	Protein Coding	7.37	DISEASES inferred ¹⁵
18	WDR74	WD Repeat Domain 74	Protein Coding	7.32	DISEASES inferred ¹⁵
19	FTSJ3	FtsJ RNA 2'-O-Methyltransferase 3	Protein Coding	7.24	DISEASES inferred ¹⁵
20	SURF6	Surfeit 6	Protein Coding	7.16	DISEASES inferred ¹⁵
21	PDCD11	Programmed Cell Death 11	Protein Coding	7.12	DISEASES inferred ¹⁵
22	GTPBP4	GTP Binding Protein 4	Protein Coding	6.98	DISEASES inferred ¹⁵
23	MRTO4	MRT4 Homolog, Ribosome Maturation Factor	Protein Coding	6.96	DISEASES inferred ¹⁵
24	FTSJ1	FtsJ RNA 2'-O-Methyltransferase 1	Protein Coding	6.95	DISEASES inferred ¹⁵

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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>G	SNV	Pathogenic	219219	rs869025216	3:183888105-183888105	3:184170317-184170317
5	DVL3	NM_004423.4(DVL3):c.1715-1G>A	SNV	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>C	SNV	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>G	SNV	Conflicting interpretations of pathogenicity	160311	rs188798140	3:55513600-55513600	3:55479572-55479572
15	WNT5A	NM_003392.4(WNT5A):c.141-9C>G	SNV	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>T	SNV	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.*1953dup	duplication	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>C	SNV	Uncertain significance	367524	rs1057515683	9:94712380-94712380	9:91950098-91950098
33	ROR2	NM_004560.4(ROR2):c.*682C>G	SNV	Uncertain significance	367485	rs1057515678	9:94485262-94485262	9:91722980-91722980
34	ROR2	NM_004560.4(ROR2):c.*180C>A	SNV	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>T	SNV	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>A	SNV	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>C	SNV	Uncertain significance	346269	rs886058745	3:55513606-55513606	3:55479578-55479578
43	WNT5A	NM_003392.4(WNT5A):c.-292G>C	SNV	Uncertain significance	346275	rs748087732	3:55521305-55521305	3:55487277-55487277
44	WNT5A	NM_003392.4(WNT5A):c.-383G>A	SNV	Uncertain significance	346277	rs886058748	3:55521396-55521396	3:55487368-55487368
45	WNT5A	NM_003392.4(WNT5A):c.-393C>T	SNV	Uncertain significance	346279	rs556605284	3:55521406-55521406	3:55487378-55487378
46	WNT5A	NM_003392.4(WNT5A):c.-574C>A	SNV	Uncertain significance	346281	rs886058751	3:55521587-55521587	3:55487559-55487559
47	ROR2	NM_004560.4(ROR2):c.*487C>G	SNV	Uncertain significance	367489	rs970063320	9:94485457-94485457	9:91723175-91723175
48	ROR2	NM_004560.4(ROR2):c.*135G>T	SNV	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_1953dup	duplication	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

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Expression for Robinow Syndrome, Autosomal Dominant 1

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

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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	rRNA processing in the nucleus and cytosol ⁶⁵ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁵ rRNA modification in the nucleus and cytosol ⁶⁵ rRNA processing ⁶⁵	12.16	WDR12 NOP2 MTREX DDX52 DDX49
2	Wnt signaling network ¹	10.6	WNT5A ROR2
3	Noncanonical Wnt signaling pathway ¹	10.28	WNT5A ROR2 DVL3

Sources

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

Sources for Robinow Syndrome, Autosomal Dominant 1

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⁷⁴ Wikipedia

Robinow Syndrome, Autosomal Dominant 1 (DRS1)

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 1

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Expression for Robinow Syndrome, Autosomal Dominant 1

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

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

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

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