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

DRS1 MCID: RBN018 MIFTS: 40	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 Drugs 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 ⁵⁷ ⁷⁵

Drs1 ⁵⁷ ¹² ⁷⁵

Acral Dysostosis with Facial and Genital Abnormalities ⁵⁷ ⁷⁵

Autosomal Dominant Robinow Syndrome 1 ¹² ¹⁵

Fetal Face Syndrome ⁵⁷ ⁷⁵

Robinow Dwarfism ⁵⁷ ⁷⁵

Dysostosis Acral with Facial and Genital Abnormalities ⁵³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
see also autosomal recessive robinow syndrome

HPO:

³²

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:

OMIM ⁵⁷ 180700

Disease Ontology ¹² DOID:0060766

MedGen ⁴² C0265205

MeSH ⁴⁴ D004392 D014564 D017880 more

SNOMED-CT via HPO ⁶⁹ 263681008 396232000 204878001 more

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Summaries for Robinow Syndrome, Autosomal Dominant 1

OMIM : ⁵⁷ 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 robinow syndrome and autosomal dominant robinow syndrome. An important gene associated with Robinow Syndrome, Autosomal Dominant 1 is WNT5A (Wnt Family Member 5A), and among its related pathways/superpathways is Noncanonical Wnt signaling pathway. The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and eye, and related phenotypes are macrocephaly and malar flattening

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 : ⁷⁵ 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
Robinow Syndrome, Autosomal Dominant 2	Robinow Syndrome, Autosomal Dominant 3
Autosomal Dominant Robinow Syndrome	Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

Diseases related to Robinow Syndrome, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	robinow syndrome	32.3	WNT5A DVL3
2	autosomal dominant robinow syndrome	31.6	WNT5A DVL3
3	ror2-related robinow syndrome	11.5
4	robinow syndrome, autosomal dominant 3	9.9	TUBA4A DVL3
5	androgen insensitivity syndrome	9.7
6	dysostosis	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:
renal duplication
hydronephrosis
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

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 1:

³² (show top 50) (show all 62)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³²		HP:0000256
2	malar flattening ³²		HP:0000272
3	hypertelorism ³²		HP:0000316
4	low-set ears ³²	very rare (1%)	HP:0000369
5	short neck ³²	very rare (1%)	HP:0000470
6	pectus excavatum ³²		HP:0000767
7	frontal bossing ³²		HP:0002007
8	clinodactyly ³²		HP:0030084
9	high palate ³²	very rare (1%)	HP:0000218
10	intellectual disability ³²		HP:0001249
11	inguinal hernia ³²		HP:0000023
12	macroglossia ³²		HP:0000158
13	narrow palate ³²	very rare (1%)	HP:0000189
14	gingival overgrowth ³²		HP:0000212
15	global developmental delay ³²		HP:0001263
16	delayed skeletal maturation ³²		HP:0002750
17	depressed nasal bridge ³²	very rare (1%)	HP:0005280
18	wide nasal bridge ³²		HP:0000431
19	umbilical hernia ³²		HP:0001537
20	short nose ³²	very rare (1%)	HP:0003196
21	anteverted nares ³²	very rare (1%)	HP:0000463
22	broad thumb ³²		HP:0011304
23	long philtrum ³²		HP:0000343
24	micrognathia ³²		HP:0000347
25	retrognathia ³²	very rare (1%)	HP:0000278
26	delayed eruption of teeth ³²		HP:0000684
27	short palm ³²		HP:0004279
28	epicanthus ³²	very rare (1%)	HP:0000286
29	cryptorchidism ³²		HP:0000028
30	flat face ³²		HP:0012368
31	rhizomelia ³²	very rare (1%)	HP:0008905
32	small hand ³²	very rare (1%)	HP:0200055
33	dental crowding ³²		HP:0000678
34	downslanted palpebral fissures ³²		HP:0000494
35	upslanted palpebral fissure ³²	very rare (1%)	HP:0000582
36	brachydactyly ³²		HP:0001156
37	downturned corners of mouth ³²	very rare (1%)	HP:0002714
38	thin upper lip vermilion ³²	very rare (1%)	HP:0000219
39	renal duplication ³²		HP:0000075
40	nevus flammeus ³²		HP:0001052
41	midface retrusion ³²		HP:0011800
42	wide anterior fontanel ³²		HP:0000260
43	long palpebral fissure ³²		HP:0000637
44	nail dysplasia ³²	very rare (1%)	HP:0002164
45	proptosis ³²		HP:0000520
46	long eyelashes ³²	very rare (1%)	HP:0000527
47	hydronephrosis ³²		HP:0000126
48	oral cleft ³²	very rare (1%)	HP:0000202
49	micropenis ³²		HP:0000054
50	hypoplastic labia majora ³²		HP:0000059

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Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

Drugs for Robinow Syndrome, Autosomal Dominant 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pembrolizumab

Approved

Phase 3

1374853-91-4

Pharmaceutical Solutions

Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Safety and Efficacy Study of Pembrolizumab (MK-3475) as Monotherapy in the Adjuvant Treatment of Renal Cell Carcinoma Post Nephrectomy (MK-3475-564/KEYNOTE-564)	Recruiting	NCT03142334	Phase 3	Placebo (saline solution)

Search 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:

⁴¹

Bone, Tongue, Eye

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Publications for Robinow Syndrome, Autosomal Dominant 1

Articles related to Robinow Syndrome, Autosomal Dominant 1:

#	Title	Authors	Year
1	Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. ( 10213037 )	Kantaputra PN...Sudasna J	1999
2	DRS1 to DRS7, novel genes required for ribosome assembly and function in Saccharomyces cerevisiae. ( 8247005 )	Ripmaster TL...Woolford JL	1993
3	The Robinow (fetal face) syndrome: a continuing puzzle. ( 8287180 )	Robinow M	1993
4	Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency. ( 2373109 )	Sch?nau E...Schott G	1990
5	Robinow syndrome (Fetal Face syndrome). ( 6676283 )		1983
6	Picture of the month: Fetal face syndrome (Robinow Snydrome). ( 1121964 )	Gellis SS...Bull M	1975
7	Fetal face syndrome with acral dysostosis. ( 4838165 )	Schinzel A....Prader A.	1974
8	Fetal face syndrome with mental retardation. ( 4847191 )	Seemanov? E...Kreisinger J	1974

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Genes for Robinow Syndrome, Autosomal Dominant 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	WNT5A	Wnt Family Member 5A	Protein Coding	1227.69	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)
2	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	400	Pathogenic ⁶
3	MSN	Moesin	Protein Coding	16.04	DISEASES inferred ¹⁵
4	TUBA4A	Tubulin Alpha 4a	Protein Coding	16.02	DISEASES inferred ¹⁵
5	VPS4B	Vacuolar Protein Sorting 4 Homolog B	Protein Coding	15.77	DISEASES inferred ¹⁵
6	SLK	STE20 Like Kinase	Protein Coding	15.48	DISEASES inferred ¹⁵
7	AARS	Alanyl-TRNA Synthetase	Protein Coding	15.38	DISEASES inferred ¹⁵
8	DDX41	DEAD-Box Helicase 41	Protein Coding	15.37	DISEASES inferred ¹⁵

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Variations for Robinow Syndrome, Autosomal Dominant 1

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

⁷⁵

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

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

⁶ (show top 50) (show all 354)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	WNT5A	NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg)	single nucleotide variant	Pathogenic	rs387906663	GRCh37	Chromosome 3, 55508505: 55508505
2	WNT5A	NM_003392.4(WNT5A): c.544T> C (p.Cys182Arg)	single nucleotide variant	Pathogenic	rs387906663	GRCh38	Chromosome 3, 55474477: 55474477
3	WNT5A	NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser)	single nucleotide variant	Pathogenic	rs786200925	GRCh38	Chromosome 3, 55479457: 55479457
4	WNT5A	NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser)	single nucleotide variant	Pathogenic	rs786200925	GRCh37	Chromosome 3, 55513485: 55513485
5	WNT5A	NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg)	single nucleotide variant	Likely pathogenic	rs587784562	GRCh37	Chromosome 3, 55508562: 55508562
6	WNT5A	NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg)	single nucleotide variant	Likely pathogenic	rs587784562	GRCh38	Chromosome 3, 55474534: 55474534
7	WNT5A	NM_003392.4(WNT5A): c.405G> T (p.Thr135=)	single nucleotide variant	Benign	rs147104982	GRCh37	Chromosome 3, 55508644: 55508644
8	WNT5A	NM_003392.4(WNT5A): c.405G> T (p.Thr135=)	single nucleotide variant	Benign	rs147104982	GRCh38	Chromosome 3, 55474616: 55474616
9	WNT5A	NM_003392.4(WNT5A): c.391+11A> G	single nucleotide variant	Uncertain significance	rs6790979	GRCh37	Chromosome 3, 55513331: 55513331
10	WNT5A	NM_003392.4(WNT5A): c.391+11A> G	single nucleotide variant	Uncertain significance	rs6790979	GRCh38	Chromosome 3, 55479303: 55479303
11	WNT5A	NM_003392.4(WNT5A): c.141-8C> G	single nucleotide variant	Uncertain significance	rs188798140	GRCh37	Chromosome 3, 55513600: 55513600
12	WNT5A	NM_003392.4(WNT5A): c.141-8C> G	single nucleotide variant	Uncertain significance	rs188798140	GRCh38	Chromosome 3, 55479572: 55479572
13	WNT5A	NM_003392.4(WNT5A): c.141-9C> T	single nucleotide variant	Uncertain significance	rs181894008	GRCh37	Chromosome 3, 55513601: 55513601
14	WNT5A	NM_003392.4(WNT5A): c.141-9C> T	single nucleotide variant	Uncertain significance	rs181894008	GRCh38	Chromosome 3, 55479573: 55479573
15	WNT5A	NM_003392.4(WNT5A): c.141-9C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs181894008	GRCh37	Chromosome 3, 55513601: 55513601
16	WNT5A	NM_003392.4(WNT5A): c.141-9C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs181894008	GRCh38	Chromosome 3, 55479573: 55479573
17	WNT5A	NM_003392.4(WNT5A): c.140+14A> G	single nucleotide variant	Uncertain significance	rs139616809	GRCh37	Chromosome 3, 55514799: 55514799
18	WNT5A	NM_003392.4(WNT5A): c.140+14A> G	single nucleotide variant	Uncertain significance	rs139616809	GRCh38	Chromosome 3, 55480771: 55480771
19	ROR2	NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41277835	GRCh37	Chromosome 9, 94485971: 94485971
20	ROR2	NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41277835	GRCh38	Chromosome 9, 91723689: 91723689
21	ROR2	NM_004560.3(ROR2): c.2455G> A (p.Val819Ile)	single nucleotide variant	Benign	rs10761129	GRCh37	Chromosome 9, 94486321: 94486321
22	ROR2	NM_004560.3(ROR2): c.2455G> A (p.Val819Ile)	single nucleotide variant	Benign	rs10761129	GRCh38	Chromosome 9, 91724039: 91724039
23	ROR2	NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34491822	GRCh37	Chromosome 9, 94486491: 94486491
24	ROR2	NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs34491822	GRCh38	Chromosome 9, 91724209: 91724209
25	ROR2	NM_004560.3(ROR2): c.2154C> T (p.Pro718=)	single nucleotide variant	Benign	rs2230577	GRCh37	Chromosome 9, 94486622: 94486622
26	ROR2	NM_004560.3(ROR2): c.2154C> T (p.Pro718=)	single nucleotide variant	Benign	rs2230577	GRCh38	Chromosome 9, 91724340: 91724340
27	ROR2	NM_004560.3(ROR2): c.2088C> T (p.Tyr696=)	single nucleotide variant	Benign	rs10992063	GRCh37	Chromosome 9, 94486688: 94486688
28	ROR2	NM_004560.3(ROR2): c.2088C> T (p.Tyr696=)	single nucleotide variant	Benign	rs10992063	GRCh38	Chromosome 9, 91724406: 91724406
29	ROR2	NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg)	single nucleotide variant	Benign	rs34431454	GRCh37	Chromosome 9, 94486693: 94486693
30	ROR2	NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg)	single nucleotide variant	Benign	rs34431454	GRCh38	Chromosome 9, 91724411: 91724411
31	ROR2	NM_004560.3(ROR2): c.1959G> A (p.Leu653=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144549032	GRCh37	Chromosome 9, 94486817: 94486817
32	ROR2	NM_004560.3(ROR2): c.1959G> A (p.Leu653=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144549032	GRCh38	Chromosome 9, 91724535: 91724535
33	ROR2	NM_004560.3(ROR2): c.1710G> A (p.Pro570=)	single nucleotide variant	Benign/Likely benign	rs41277837	GRCh37	Chromosome 9, 94487066: 94487066
34	ROR2	NM_004560.3(ROR2): c.1710G> A (p.Pro570=)	single nucleotide variant	Benign/Likely benign	rs41277837	GRCh38	Chromosome 9, 91724784: 91724784
35	ROR2	NM_004560.3(ROR2): c.1045C> G (p.His349Asp)	single nucleotide variant	Benign	rs55983376	GRCh37	Chromosome 9, 94493330: 94493330
36	ROR2	NM_004560.3(ROR2): c.1045C> G (p.His349Asp)	single nucleotide variant	Benign	rs55983376	GRCh38	Chromosome 9, 91731048: 91731048
37	ROR2	NM_004560.3(ROR2): c.986G> A (p.Ser329Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371221714	GRCh37	Chromosome 9, 94493389: 94493389
38	ROR2	NM_004560.3(ROR2): c.986G> A (p.Ser329Asn)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371221714	GRCh38	Chromosome 9, 91731107: 91731107
39	ROR2	NM_004560.3(ROR2): c.733A> G (p.Thr245Ala)	single nucleotide variant	Benign	rs10820900	GRCh37	Chromosome 9, 94495608: 94495608
40	ROR2	NM_004560.3(ROR2): c.733A> G (p.Thr245Ala)	single nucleotide variant	Benign	rs10820900	GRCh38	Chromosome 9, 91733326: 91733326
41	ROR2	NM_004560.3(ROR2): c.498T> C (p.Asp166=)	single nucleotide variant	Benign	rs16907720	GRCh37	Chromosome 9, 94499797: 94499797
42	ROR2	NM_004560.3(ROR2): c.498T> C (p.Asp166=)	single nucleotide variant	Benign	rs16907720	GRCh38	Chromosome 9, 91737515: 91737515
43	ROR2	NM_004560.3(ROR2): c.98-15G> C	single nucleotide variant	Benign	rs7863557	GRCh37	Chromosome 9, 94538115: 94538115
44	ROR2	NM_004560.3(ROR2): c.98-15G> C	single nucleotide variant	Benign	rs7863557	GRCh38	Chromosome 9, 91775833: 91775833
45	ROR2	NM_004560.3(ROR2): c.75G> A (p.Leu25=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148237260	GRCh37	Chromosome 9, 94712171: 94712171
46	ROR2	NM_004560.3(ROR2): c.75G> A (p.Leu25=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148237260	GRCh38	Chromosome 9, 91949889: 91949889
47	WNT5A	NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser)	single nucleotide variant	Pathogenic	rs869312850	GRCh38	Chromosome 3, 55474476: 55474476
48	WNT5A	NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser)	single nucleotide variant	Pathogenic	rs869312850	GRCh37	Chromosome 3, 55508504: 55508504
49	WNT5A	NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys)	single nucleotide variant	Pathogenic	rs786204836	GRCh38	Chromosome 3, 55479448: 55479448
50	WNT5A	NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys)	single nucleotide variant	Pathogenic	rs786204836	GRCh37	Chromosome 3, 55513476: 55513476

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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	Noncanonical Wnt signaling pathway ¹	10.1	DVL3 WNT5A

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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	extracellular exosome	GO:0070062	9.1	AARS MSN SLK TUBA4A VPS4B WNT5A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	canonical Wnt signaling pathway	GO:0060070	9.46	DVL3 WNT5A
2	Wnt signaling pathway, planar cell polarity pathway	GO:0060071	9.43	DVL3 WNT5A
3	positive regulation of JUN kinase activity	GO:0043507	9.4	DVL3 WNT5A
4	non-canonical Wnt signaling pathway	GO:0035567	9.37	DVL3 WNT5A
5	regulation of cellular protein localization	GO:1903827	9.32	DVL3 WNT5A
6	establishment of epithelial cell apical/basal polarity	GO:0045198	9.26	MSN WNT5A
7	planar cell polarity pathway involved in neural tube closure	GO:0090179	9.16	DVL3 WNT5A
8	positive regulation of neuron projection arborization	GO:0150012	8.96	DVL3 WNT5A
9	non-canonical Wnt signaling pathway via JNK cascade	GO:0038031	8.62	DVL3 WNT5A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of cytoskeleton	GO:0005200	9.16	MSN TUBA4A
2	signaling receptor binding	GO:0005102	9.13	DVL3 MSN WNT5A
3	frizzled binding	GO:0005109	8.62	DVL3 WNT5A

Sources

Sources for Robinow Syndrome, Autosomal Dominant 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Robinow Syndrome, Autosomal Dominant 1 (DRS1)

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 1

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 1:

Characteristics:

OMIM:

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Summaries for Robinow Syndrome, Autosomal Dominant 1

Related Diseases for Robinow Syndrome, Autosomal Dominant 1

Diseases in the Robinow Syndrome family:

Diseases related to Robinow Syndrome, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 1

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Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

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ClinVar genetic disease variations 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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