Robinow Syndrome, Autosomal Dominant 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DRS2 MCID: RBN017 MIFTS: 46	Robinow Syndrome, Autosomal Dominant 2 (DRS2) 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 2

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 2:

Name: Robinow Syndrome, Autosomal Dominant 2 ⁵⁶ ⁷³ ²⁹ ⁶

Drs2 ⁵⁶ ¹² ⁷³

Autosomal Dominant Robinow Syndrome 2 ¹² ¹⁵

Robinow Syndrome, Autosomal Dominant, Type 2 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal dominant

Miscellaneous:
onset at birth

HPO:

³¹

robinow syndrome, autosomal dominant 2:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060765

OMIM ⁵⁶ 616331

OMIM Phenotypic Series ⁵⁶ PS268310

MeSH ⁴³ D004392 D014564 D017880 more

MedGen ⁴¹ C4225363 CN229715

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Summaries for Robinow Syndrome, Autosomal Dominant 2

OMIM : ⁵⁶ Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015). For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (268310). (616331)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 2, also known as drs2, is related to robinow syndrome, autosomal dominant 3 and autosomal dominant robinow syndrome. An important gene associated with Robinow Syndrome, Autosomal Dominant 2 is DVL1 (Dishevelled Segment Polarity Protein 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Affiliated tissues include bone, eye and brain, and related phenotypes are umbilical hernia and thickened calvaria

Disease Ontology : ¹² A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has material basis in heterozygous mutation in the DVL1 gene on chromosome 1p36.

UniProtKB/Swiss-Prot : ⁷³ Robinow syndrome, autosomal dominant 2: A rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, costovertebral segmentation defects, and renal anomalies.

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Related Diseases for Robinow Syndrome, Autosomal Dominant 2

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

#	Related Disease	Score	Top Affiliating Genes
1	robinow syndrome, autosomal dominant 3	10.3	FZD2 DVL3
2	autosomal dominant robinow syndrome	10.2	FZD2 DVL3 DVL1
3	brachydactyly, type b2	10.2	DVL3 DVL1
4	familial intrahepatic cholestasis	10.2	TMEM30A ATP8B1 ATP8A1
5	brachydactyly, type b1	10.1	DVL3 DVL1
6	progressive familial intrahepatic cholestasis	10.0	TMEM30A ATP8B1 ATP8A2 ATP8A1 ATP11C
7	cholestasis, progressive familial intrahepatic, 1	9.9	TMEM30A ATP9A ATP8B1 ATP8A2 ATP8A1 ATP11C
8	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	9.6	TMEM30A ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2
9	cholestasis, benign recurrent intrahepatic, 1	9.6	TMEM30A ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2
10	robinow syndrome	9.0	TMEM30A SNX4 NMUR2 FZD2 DVL3 DVL1

Graphical network of the top 20 diseases related to Robinow Syndrome, Autosomal Dominant 2:

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Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 2

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 2:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	umbilical hernia ³¹	occasional (7.5%)	HP:0001537
2	thickened calvaria ³¹	occasional (7.5%)	HP:0002684
3	sensorineural hearing impairment ³¹	occasional (7.5%)	HP:0000407
4	short stature ³¹	occasional (7.5%)	HP:0004322
5	micrognathia ³¹	occasional (7.5%)	HP:0000347
6	conductive hearing impairment ³¹	occasional (7.5%)	HP:0000405
7	increased bone mineral density ³¹	occasional (7.5%)	HP:0011001
8	mesomelia ³¹	occasional (7.5%)	HP:0003027
9	gingival overgrowth ³¹		HP:0000212
10	hypertelorism ³¹		HP:0000316
11	macrocephaly ³¹		HP:0000256
12	dental malocclusion ³¹		HP:0000689
13	short nose ³¹		HP:0003196
14	anteverted nares ³¹		HP:0000463
15	broad thumb ³¹		HP:0011304
16	frontal bossing ³¹		HP:0002007
17	cryptorchidism ³¹		HP:0000028
18	dental crowding ³¹		HP:0000678
19	brachydactyly ³¹		HP:0001156
20	micropenis ³¹		HP:0000054
21	thin upper lip vermilion ³¹		HP:0000219
22	long philtrum ³¹		HP:0000343
23	proptosis ³¹		HP:0000520
24	high forehead ³¹		HP:0000348
25	short distal phalanx of finger ³¹		HP:0009882
26	midface retrusion ³¹		HP:0011800
27	clinodactyly ³¹		HP:0030084
28	triangular mouth ³¹		HP:0000207

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
hypertelorism
prominent eyes

Head And Neck Nose:
short nose
anteverted nares
wide, low nasal bridge

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
clinodactyly
broad thumbs
hypoplastic distal phalanges

Genitourinary External Genitalia Male:
micropenis

Growth Height:
short stature (in some patients)

Abdomen External Features:
umbilical hernia (in some patients)

Skeletal:
osteosclerosis (in some patients)

Skeletal Limbs:
mesomelia (in some patients)
undertubulated long bones (in some patients)

Head And Neck Head:
macrocephaly

Head And Neck Face:
frontal bossing
long philtrum
high forehead
midface hypoplasia
micrognathia (in some patients)

Head And Neck Teeth:
dental crowding
malocclusion
dental anomalies

Skeletal Feet:
brachydactyly
hypoplastic distal phalanges
broad first toes

Head And Neck Mouth:
triangular mouth
thin upper lip
gingival hyperplasia

Head And Neck Ears:
sensorineural hearing loss (in some patients)
conductive hearing loss (in some patients)
abnormal ear shape (in some patients)
abnormal ear position (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Skeletal Skull:
thickened calvaria (in some patients)

Clinical features from OMIM:

616331

GenomeRNAi Phenotypes related to Robinow Syndrome, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased epidermal growth factor receptor (EGFR) surface abundance	GR00355-A	8.8	CYTH1 DVL1 OSBP

MGI Mouse Phenotypes related to Robinow Syndrome, Autosomal Dominant 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.32	ATP8A2 ATP8B1 CYTH1 DVL1 DVL3 FZD2

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Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Comparison of Islet Cell Transplantation With Medical Therapy on the Risk of Progression of Diabetic Retinopathy and Diabetic Macular Edema	Withdrawn	NCT00853424	Phase 3

Search NIH Clinical Center for Robinow Syndrome, Autosomal Dominant 2

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Genetic Tests for Robinow Syndrome, Autosomal Dominant 2

Genetic tests related to Robinow Syndrome, Autosomal Dominant 2:

#	Genetic test	Affiliating Genes
1	Robinow Syndrome, Autosomal Dominant 2 ²⁹	DVL1

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Anatomical Context for Robinow Syndrome, Autosomal Dominant 2

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 2:

⁴⁰

Bone, Eye, Brain

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Publications for Robinow Syndrome, Autosomal Dominant 2

Articles related to Robinow Syndrome, Autosomal Dominant 2:

(show top 50) (show all 61)

#	Title	Authors	PMID	Year
1	Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. ⁵⁶ ⁶	Bunn KJ...Robertson SP	25817014	2015
2	DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. ⁵⁶ ⁶	White J...Carvalho CM	25817016	2015
3	An osteosclerotic form of Robinow syndrome. ⁶ ⁵⁶	Bunn KJ...Robertson SP	25045061	2014
4	Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome. ⁵⁶ ⁶	Eijkenboom DF...Kunst HP	22431878	2012
5	Robinow syndrome in monozygotic twins with normal stature. ⁶ ⁵⁶	Saraiva JM...Santos HG	10319206	1999
6	DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. ⁵⁶	White JJ...Carvalho CMB	26924530	2016
7	Autosomal Dominant Robinow Syndrome ⁶	Roifman M...Chitayat D	25577943	2015
8	Yeast synaptobrevin, Snc1, engages distinct routes of postendocytic recycling mediated by a sorting nexin, Rcy1-COPI, and retromer. ⁶¹	Best JT...Graham TR	32074001	2020
9	Conserved mechanism of phospholipid substrate recognition by the P4-ATPase Neo1 from Saccharomyces cerevisiae. ⁶¹	Huang Y...Graham TR	31786280	2020
10	The PQ-loop protein Any1 segregates Drs2 and Neo1 functions required for viability and plasma membrane phospholipid asymmetry. ⁶¹	Takar M...Graham TR	30824614	2019
11	Action of Arl1 GTPase and golgin Imh1 in Ypt6-independent retrograde transport from endosomes to the trans-Golgi network. ⁶¹	Chen YT...Lee FS	30726160	2019
12	Hygromycin B hypersensitive (hhy) mutants implicate an intact trans-Golgi and late endosome interface in efficient Tor1 vacuolar localization and TORC1 function. ⁶¹	Ejzykowicz DE...Gharakhanian E	27812735	2017
13	Quantitative high-content imaging identifies novel regulators of Neo1 trafficking at endosomes. ⁶¹	Dalton LE...Conibear E	28404745	2017
14	C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity. ⁶¹	Chalat M...Molday RS	27932490	2017
15	The Essential Neo1 Protein from Budding Yeast Plays a Role in Establishing Aminophospholipid Asymmetry of the Plasma Membrane. ⁶¹	Takar M...Graham TR	27235400	2016
16	Phosphatidylserine translocation at the yeast trans-Golgi network regulates protein sorting into exocytic vesicles. ⁶¹	Hankins HM...Graham TR	26466678	2015
17	Plasma membrane aminoglycerolipid flippase function is required for signaling competence in the yeast mating pheromone response pathway. ⁶¹	Sartorel E...Thorner J	25378585	2015
18	New examples of membrane protein expression and purification using the yeast based Pdr1-3 expression strategy. ⁶¹	Gupta RP...Schmitt L	25036752	2014
19	Interaction of the phospholipid flippase Drs2p with the F-box protein Rcy1p plays an important role in early endosome to trans-Golgi network vesicle transport in yeast. ⁶¹	Hanamatsu H...Tanaka K	24272750	2014
20	Auto-inhibition of Drs2p, a yeast phospholipid flippase, by its carboxyl-terminal tail. ⁶¹	Zhou X...Graham TR	24045945	2013
21	Phosphatidylserine flipping enhances membrane curvature and negative charge required for vesicular transport. ⁶¹	Xu P...Graham TR	24019533	2013
22	Type IV P-type ATPases distinguish mono- versus diacyl phosphatidylserine using a cytofacial exit gate in the membrane domain. ⁶¹	Baldridge RD...Graham TR	23709217	2013
23	Two-gate mechanism for phospholipid selection and transport by type IV P-type ATPases. ⁶¹	Baldridge RD...Graham TR	23302692	2013
24	Identification of residues defining phospholipid flippase substrate specificity of type IV P-type ATPases. ⁶¹	Baldridge RD...Graham TR	22308393	2012
25	Effect of ruboxistaurin (RBX) On visual acuity decline over a 6-year period with cessation and reinstitution of therapy: results of an open-label extension of the Protein Kinase C Diabetic Retinopathy Study 2 (PKC-DRS2). ⁶¹	Sheetz MJ...Mbdv Study Group	21386766	2011
26	Protein kinase C inhibitors in the treatment of diabetic retinopathy. Review. ⁶¹	Galvez MI	20939796	2011
27	Coordination of Golgi functions by phosphatidylinositol 4-kinases. ⁶¹	Graham TR...Burd CG	21282087	2011
28	A protein kinase network regulates the function of aminophospholipid flippases. ⁶¹	Roelants FM...Thorner J	19966303	2010
29	A putative P-type ATPase, Apt1, is involved in stress tolerance and virulence in Cryptococcus neoformans. ⁶¹	Hu G...Kronstad JW	19949048	2010
30	Diabetic macular oedema and visual loss: relationship to location, severity and duration. ⁶¹	Gardner TW...Protein Kinase C Diabetic Retinopathy Study (PKC-DRS2) Study Group	19817721	2009
31	Control of protein and sterol trafficking by antagonistic activities of a type IV P-type ATPase and oxysterol binding protein homologue. ⁶¹	Muthusamy BP...Graham TR	19403696	2009
32	Effect of ruboxistaurin on the visual acuity decline associated with long-standing diabetic macular edema. ⁶¹	Davis MD...PKC-DRS2 Study Group	18708615	2009
33	Sustained moderate visual loss as a predictive end point for visual loss in non-proliferative diabetic retinopathy. ⁶¹	Girach A...PKC-DRS2 Study Group	18989348	2009
34	The putative aminophospholipid translocases, DNF1 and DNF2, are not required for 7-nitrobenz-2-oxa-1,3-diazol-4-yl-phosphatidylserine flip across the plasma membrane of Saccharomyces cerevisiae. ⁶¹	Stevens HC...Nichols JW	18931395	2008
35	Protein kinases Fpk1p and Fpk2p are novel regulators of phospholipid asymmetry. ⁶¹	Nakano K...Tanaka K	18199685	2008
36	Global screening of genes essential for growth in high-pressure and cold environments: searching for basic adaptive strategies using a yeast deletion library. ⁶¹	Abe F...Minegishi H	18245339	2008
37	A noncoding RNA in Saccharomyces cerevisiae is an RNase P substrate. ⁶¹	Yang L...Altman S	17379814	2007
38	Endocytic recycling in yeast is regulated by putative phospholipid translocases and the Ypt31p/32p-Rcy1p pathway. ⁶¹	Furuta N...Tanaka K	17093059	2007
39	Ruboxistaurin: LY 333531. ⁶¹		17472415	2007
40	Characterization of novel genes expressed specifically in the sexual organs of the planarian Dugesia ryukyuensis. ⁶¹	Hase S...Matsumoto M	17554688	2007
41	Roles for the Drs2p-Cdc50p complex in protein transport and phosphatidylserine asymmetry of the yeast plasma membrane. ⁶¹	Chen S...Graham TR	16956384	2006
42	Lipid specific activation of the murine P4-ATPase Atp8a1 (ATPase II). ⁶¹	Paterson JK...Daleke DL	16618126	2006
43	Molecular interactions of yeast Neo1p, an essential member of the Drs2 family of aminophospholipid translocases, and its role in membrane trafficking within the endomembrane system. ⁶¹	Wicky S...Singer-Kruger B	15314152	2004
44	Drs2p-coupled aminophospholipid translocase activity in yeast Golgi membranes and relationship to in vivo function. ⁶¹	Natarajan P...Graham TR	15249668	2004
45	Cdc50p, a protein required for polarized growth, associates with the Drs2p P-type ATPase implicated in phospholipid translocation in Saccharomyces cerevisiae. ⁶¹	Saito K...Tanaka K	15090616	2004
46	Drs2p-dependent formation of exocytic clathrin-coated vesicles in vivo. ⁶¹	Gall WE...Graham TR	12372257	2002
47	An essential subfamily of Drs2p-related P-type ATPases is required for protein trafficking between Golgi complex and endosomal/vacuolar system. ⁶¹	Hua Z...Graham TR	12221123	2002
48	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
49	Chilling tolerance in Arabidopsis involves ALA1, a member of a new family of putative aminophospholipid translocases. ⁶¹	Gomes E...Palmgren MG	11148289	2000
50	Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function. ⁶¹	Chen CY...Graham TR	10601336	1999

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Genes for Robinow Syndrome, Autosomal Dominant 2

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

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	1025.5	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	25045061 25577943 10319206 (more) 25817014 25817016 22431878
2	FZD2	Frizzled Class Receptor 2	Protein Coding	408.26	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25577943
3	ATP8A1	ATPase Phospholipid Transporting 8A1	Protein Coding	8.2	DISEASES inferred ¹⁵
4	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	7.57	GeneCards inferred via : Variants (show sections)
5	CYTH1	Cytohesin 1	Protein Coding	7.55	DISEASES inferred ¹⁵
6	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	7.54	DISEASES inferred ¹⁵
7	ATP9A	ATPase Phospholipid Transporting 9A (Putative)	Protein Coding	7.49	DISEASES inferred ¹⁵
8	TMEM30A	Transmembrane Protein 30A	Protein Coding	7.21	DISEASES inferred ¹⁵
9	ARF1	ADP Ribosylation Factor 1	Protein Coding	7.12	DISEASES inferred ¹⁵
10	SNX4	Sorting Nexin 4	Protein Coding	7.11	DISEASES inferred ¹⁵
11	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	7.07	DISEASES inferred ¹⁵
12	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	6.92	DISEASES inferred ¹⁵
13	ATP9B	ATPase Phospholipid Transporting 9B (Putative)	Protein Coding	6.9	DISEASES inferred ¹⁵
14	NMUR2	Neuromedin U Receptor 2	Protein Coding	6.88	DISEASES inferred ¹⁵
15	SACM1L	SAC1 Like Phosphatidylinositide Phosphatase	Protein Coding	6.84	DISEASES inferred ¹⁵
16	ATP8B3	ATPase Phospholipid Transporting 8B3	Protein Coding	6.78	DISEASES inferred ¹⁵
17	NEO1	Neogenin 1	Protein Coding	6.77	DISEASES inferred ¹⁵
18	SERPINA4	Serpin Family A Member 4	Protein Coding	6.73	DISEASES inferred ¹⁵
19	OSBP	Oxysterol Binding Protein	Protein Coding	6.61	DISEASES inferred ¹⁵
20	VTI1B	Vesicle Transport Through Interaction With T-SNAREs 1B	Protein Coding	6.56	DISEASES inferred ¹⁵
21	MOGS	Mannosyl-Oligosaccharide Glucosidase	Protein Coding	6.53	DISEASES inferred ¹⁵
22	TMEM30CP	Transmembrane Protein 30C, Pseudogene	Pseudogene	6.51	DISEASES inferred ¹⁵
23	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	6.41	DISEASES inferred ¹⁵
24	ATP8B2	ATPase Phospholipid Transporting 8B2	Protein Coding	6.39	DISEASES inferred ¹⁵
25	ATP10A	ATPase Phospholipid Transporting 10A (Putative)	Protein Coding	6.35	DISEASES inferred ¹⁵
26	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	6.26	DISEASES inferred ¹⁵
27	MON2	MON2 Homolog, Regulator Of Endosome-To-Golgi Trafficking	Protein Coding	6.15	DISEASES inferred ¹⁵
28	PAEP	Progestagen Associated Endometrial Protein	Protein Coding	6.09	DISEASES inferred ¹⁵
29	TMEM30B	Transmembrane Protein 30B	Protein Coding	6.09	DISEASES inferred ¹⁵
30	GBF1	Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1	Protein Coding	6.06	DISEASES inferred ¹⁵
31	ATP10B	ATPase Phospholipid Transporting 10B (Putative)	Protein Coding	6.05	DISEASES inferred ¹⁵

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Variations for Robinow Syndrome, Autosomal Dominant 2

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Dominant 2:

⁶ (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DVL1	NM_001330311.2(DVL1):c.1547del (p.Thr516fs)	deletion	Pathogenic	807594		1:1273524-1273524	1:1338144-1338144
2	DVL1	NM_001330311.2(DVL1):c.1690del (p.Ser564fs)	deletion	Pathogenic	208047	rs797044837	1:1273381-1273381	1:1338001-1338001
3	DVL1	NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs)	indel	Pathogenic	208050	rs797044840	1:1273413-1273420	1:1338033-1338040
4	DVL1	NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs)	indel	Pathogenic	208043	rs797044833	1:1273425-1273426	1:1338045-1338046
5	DVL1	NM_001330311.2(DVL1):c.1637del (p.Pro546fs)	deletion	Pathogenic	208049	rs797044839	1:1273434-1273434	1:1338054-1338054
6	DVL1	NM_001330311.2(DVL1):c.1604del (p.Gly535fs)	deletion	Pathogenic	208048	rs797044838	1:1273467-1273467	1:1338087-1338087
7	DVL1	NM_001330311.2(DVL1):c.1594del (p.Trp532fs)	deletion	Pathogenic	208045	rs797044835	1:1273477-1273477	1:1338097-1338097
8	DVL1	NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)	deletion	Pathogenic	208044	rs797044834	1:1273479-1273491	1:1338099-1338111
9	DVL1	NM_001330311.2(DVL1):c.1583del (p.Pro528fs)	deletion	Pathogenic	208046	rs797044836	1:1273488-1273488	1:1338108-1338108
10	DVL1	NM_001330311.2(DVL1):c.1598del (p.Pro533fs)	deletion	Pathogenic	219223	rs869025220	1:1273473-1273473	1:1338093-1338093
11	FZD2	NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)	SNV	Pathogenic	617609	rs1568105666	17:42636700-42636700	17:44559332-44559332
12	DVL1	NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs)	deletion	Likely pathogenic	488048	rs1553173368	1:1273373-1273388	1:1337993-1338008
13	DVL1	NM_001330311.2(DVL1):c.1698del (p.Ser567fs)	deletion	Likely pathogenic	488046	rs1553173367	1:1273373-1273373	1:1337993-1337993
14	DVL1	NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	duplication	Likely pathogenic	488045	rs1553173372	1:1273379-1273380	1:1337999-1338000
15	DVL1	NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	deletion	Likely pathogenic	488047	rs1553173420	1:1273488-1273500	1:1338108-1338120
16	DVL3	NM_004423.4(DVL3):c.1617del (p.Gln539fs)	deletion	Likely pathogenic	488049	rs1553811652	3:183887912-183887912	3:184170124-184170124
17	FZD2	NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter)	SNV	Likely pathogenic	488051	rs1555657045	17:42636186-42636186	17:44558818-44558818
18	FZD2	NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser)	SNV	Likely pathogenic	488061	rs1223920489	17:42636356-42636356	17:44558988-44558988
19	FZD2	NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val)	indel	Likely pathogenic	488052	rs1555657074	17:42636357-42636358	17:44558989-44558990
20	DVL1	NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe)	SNV	Uncertain significance	692090		1:1275659-1275659	1:1340279-1340279
21	DVL1	NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser)	SNV	Likely benign	749017		1:1273654-1273654	1:1338274-1338274

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Expression for Robinow Syndrome, Autosomal Dominant 2

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 2.

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Pathways for Robinow Syndrome, Autosomal Dominant 2

Pathways related to Robinow Syndrome, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	12.93	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
2	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.23	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
3	Hippo signaling pathway ³⁶	11.8	FZD2 DVL3 DVL1
4	Signaling pathways regulating pluripotency of stem cells ³⁶	11.74	FZD2 DVL3 DVL1
5	Ion channel transport ⁶⁵ Show member pathways Stimuli-sensing channels ⁶⁵	11.66	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
6	Non-Canonical Wnt Pathway ⁶⁶	11.45	FZD2 DVL3 DVL1
7	Noncanonical Wnt signaling pathway ¹	10.81	FZD2 DVL3 DVL1
8	WNT mediated activation of DVL ⁶⁵ Show member pathways Negative regulation of TCF-dependent signaling by DVL-interacting proteins ⁶⁵	10.57	DVL3 DVL1

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GO Terms for Robinow Syndrome, Autosomal Dominant 2

Cellular components related to Robinow Syndrome, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.21	VTI1B TMEM30A SNX4 SACM1L OSBP NMUR2
2	integral component of membrane	GO:0016021	10.13	VTI1B TMEM30A SACM1L NMUR2 NEO1 FZD2
3	plasma membrane	GO:0005886	10.06	TMEM30A SNX4 OSBP NMUR2 NEO1 FZD2
4	endoplasmic reticulum	GO:0005783	9.91	TMEM30A SACM1L OSBP ATP8B3 ATP8B1 ATP8A1
5	perinuclear region of cytoplasm	GO:0048471	9.85	VTI1B OSBP ATP9B ATP9A ARF1
6	endosome	GO:0005768	9.83	VTI1B SNX4 ATP9B ATP9A ATP8A2
7	Golgi apparatus	GO:0005794	9.73	VTI1B TMEM30A SACM1L OSBP NEO1 ATP9B
8	recycling endosome	GO:0055037	9.58	VTI1B ATP9A ATP11C
9	trans-Golgi network	GO:0005802	9.28	OSBP ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2

Biological processes related to Robinow Syndrome, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of neuron projection development	GO:0010976	9.72	TMEM30A DVL1 ATP8A2
2	Wnt signaling pathway, planar cell polarity pathway	GO:0060071	9.7	FZD2 DVL3 DVL1
3	lipid transport	GO:0006869	9.7	TMEM30A OSBP ATP8B3 ATP8B1 ATP8A2 ATP8A1
4	canonical Wnt signaling pathway	GO:0060070	9.67	FZD2 DVL3 DVL1
5	cochlea morphogenesis	GO:0090103	9.56	FZD2 DVL1
6	phospholipid translocation	GO:0045332	9.56	TMEM30A ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2
7	regulation of cellular protein localization	GO:1903827	9.54	DVL3 DVL1
8	non-canonical Wnt signaling pathway	GO:0035567	9.54	FZD2 DVL3 DVL1
9	inner ear receptor cell development	GO:0060119	9.51	FZD2 ATP8B1
10	beta-catenin destruction complex disassembly	GO:1904886	9.5	FZD2 DVL3 DVL1
11	positive regulation of neuron projection arborization	GO:0150012	9.48	DVL3 DVL1
12	aminophospholipid transport	GO:0015917	9.46	TMEM30A ATP8B1
13	drug transmembrane transport	GO:0006855	9.43	TMEM30A ATP8B1
14	planar cell polarity pathway involved in neural tube closure	GO:0090179	9.43	FZD2 DVL3 DVL1
15	positive regulation of phospholipid translocation	GO:0061092	9.4	ATP8A2 ATP8A1
16	phospholipid transport	GO:0015914	9.23	TMEM30A ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2

Molecular functions related to Robinow Syndrome, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	9.8	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
2	nucleotide binding	GO:0000166	9.76	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
3	magnesium ion binding	GO:0000287	9.23	ATP9B ATP9A ATP8B3 ATP8B1 ATP8A2 ATP8A1
4	aminophospholipid transmembrane transporter activity	GO:0015247	9.13	TMEM30A ATP8B1 ATP8A2

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Sources for Robinow Syndrome, Autosomal Dominant 2

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Robinow Syndrome, Autosomal Dominant 2 (DRS2)

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