MCID: RBN017
MIFTS: 35

Robinow Syndrome, Autosomal Dominant 2

Categories: Genetic diseases, Fetal diseases, Bone diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 2

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 2:

Name: Robinow Syndrome, Autosomal Dominant 2 54 24 71 29
Autosomal Dominant Robinow Syndrome 2 12 14
Drs2 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth


HPO:

32
robinow syndrome, autosomal dominant 2:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Dominant 2

OMIM : 54
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, is also known as autosomal dominant robinow syndrome 2, and has symptoms including short stature, brachydactyly and umbilical hernia. An important gene associated with Robinow Syndrome, Autosomal Dominant 2 is DVL1 (Dishevelled Segment Polarity Protein 1), and among its related pathways/superpathways are Endocytosis and Intra-Golgi traffic. The drugs Rivastigmine and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include bone and brain.

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 : 71 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.

Related Diseases for Robinow Syndrome, Autosomal Dominant 2

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 2

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature (in some patients)

Skeletal- Hands:
brachydactyly
broad thumbs
clinodactyly
hypoplastic distal phalanges

Genitourinary- External Genitalia Male:
micropenis

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

Head And Neck- Head:
macrocephaly

Head And Neck- Teeth:
malocclusion
dental crowding
dental anomalies

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)

Skeletal- Feet:
brachydactyly
hypoplastic distal phalanges
broad first toes

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

Head And Neck- Eyes:
hypertelorism
prominent eyes

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

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- External Features:
pectus anomalies

Skeletal- Skull:
thickened calvaria (in some patients)


Clinical features from OMIM:

616331

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 2:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 short stature 32 occasional (7.5%) HP:0004322
2 brachydactyly 32 HP:0001156
3 umbilical hernia 32 occasional (7.5%) HP:0001537
4 high forehead 32 HP:0000348
5 micrognathia 32 occasional (7.5%) HP:0000347
6 micropenis 32 HP:0000054
7 hypertelorism 32 HP:0000316
8 proptosis 32 HP:0000520
9 frontal bossing 32 HP:0002007
10 short nose 32 HP:0003196
11 anteverted nares 32 HP:0000463
12 cryptorchidism 32 HP:0000028
13 macrocephaly 32 HP:0000256
14 long philtrum 32 HP:0000343
15 clinodactyly 32 HP:0030084
16 midface retrusion 32 HP:0011800
17 mesomelia 32 occasional (7.5%) HP:0003027
18 dental malocclusion 32 HP:0000689
19 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
20 dental crowding 32 HP:0000678
21 triangular mouth 32 HP:0000207
22 thin upper lip vermilion 32 HP:0000219
23 broad thumb 32 HP:0011304
24 increased bone mineral density 32 occasional (7.5%) HP:0011001
25 gingival overgrowth 32 HP:0000212
26 thickened calvaria 32 occasional (7.5%) HP:0002684
27 conductive hearing impairment 32 occasional (7.5%) HP:0000405
28 short distal phalanx of finger 32 HP:0009882

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 2

Drugs for Robinow Syndrome, Autosomal Dominant 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
2
Pembrolizumab Approved Phase 3 1374853-91-4
3 Cholinergic Agents Phase 3
4 Cholinesterase Inhibitors Phase 3
5 Neuroprotective Agents Phase 3
6 Neurotransmitter Agents Phase 3
7 Protective Agents Phase 3
8 Pharmaceutical Solutions Phase 3
9
Pioglitazone Approved, Investigational Phase 2 111025-46-8 4829
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
11
Levodopa Approved Phase 2 59-92-7 6047
12 Hypoglycemic Agents Phase 2
13 Dopamine Agents Phase 2
14 Dopamine agonists Phase 2
15 Nutmeg Approved, Nutraceutical Phase 1
16 Mace Nutraceutical Phase 1
17
Menthol Approved 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Long-term Safety of Rivastigmine Capsule and Patch in Patients With Mild to Moderately-severe Dementia Associated With Parkinson's Disease (PDD) Completed NCT00623103 Phase 3 Rivastigmine capsule;Rivastigmine transdermal patch
2 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)
3 Pioglitazone in Early Parkinson's Disease Completed NCT01280123 Phase 2 Pioglitazone;placebo
4 A Trial to Explore the Potential Benefit of Safinamide on Cognitive Impairment Associated With Parkinson's Disease Completed NCT01211587 Phase 2 safinamide;placebo
5 Nucleus Basalis Deep Brain Stimulation for Thinking & Memory Problems in Parkinson's. Completed NCT01701544 Phase 1, Phase 2
6 Safety and Biomarker Study of EPI-589 in Parkinson's Disease Recruiting NCT02462603 Phase 2 EPI-589
7 Tailored Activity Program-VA Active, not recruiting NCT01357564 Phase 1
8 Deep Brain Stimulation for Patients With Dementia With Lewy Bodies Completed NCT02263937
9 Dissociating Components of Anhedonia: A Pilot fMRI Study Recruiting NCT02569034

Search NIH Clinical Center for Robinow Syndrome, Autosomal Dominant 2

Genetic Tests for Robinow Syndrome, Autosomal Dominant 2

Genetic tests related to Robinow Syndrome, Autosomal Dominant 2:

id Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Dominant 2 29 24 DVL1

Anatomical Context for Robinow Syndrome, Autosomal Dominant 2

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

39
Bone, Brain

Publications for Robinow Syndrome, Autosomal Dominant 2

Variations for Robinow Syndrome, Autosomal Dominant 2

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DVL1 NM_004421.2(DVL1): c.1615delA (p.Ser539Alafs) deletion Pathogenic rs797044837 GRCh37 Chromosome 1, 1273381: 1273381
2 DVL1 NM_004421.2(DVL1): c.1576_1583delCCTGCCTAinsG (p.Pro526Alafs) indel Pathogenic rs797044840 GRCh37 Chromosome 1, 1273413: 1273420
3 DVL1 NM_004421.2(DVL1): c.1570_1571delTTinsC (p.Phe524Profs) indel Pathogenic rs797044833 GRCh37 Chromosome 1, 1273425: 1273426
4 DVL1 NM_004421.2(DVL1): c.1562delC (p.Pro521Hisfs) deletion Pathogenic rs797044839 GRCh37 Chromosome 1, 1273434: 1273434
5 DVL1 NM_004421.2(DVL1): c.1529delG (p.Gly510Valfs) deletion Pathogenic rs797044838 GRCh37 Chromosome 1, 1273467: 1273467
6 DVL1 NM_004421.2(DVL1): c.1519delT (p.Trp507Glyfs) deletion Pathogenic rs797044835 GRCh37 Chromosome 1, 1273477: 1273477
7 DVL1 NM_004421.2(DVL1): c.1505_1517delACCCGGCTGCCCC (p.His502Profs) deletion Pathogenic rs797044834 GRCh37 Chromosome 1, 1273479: 1273491
8 DVL1 NM_004421.2(DVL1): c.1508delC (p.Pro503Argfs) deletion Pathogenic rs797044836 GRCh37 Chromosome 1, 1273488: 1273488
9 DVL1 NM_004421.2(DVL1): c.1522delC (p.Pro508Leufs) deletion Pathogenic rs869025220 GRCh38 Chromosome 1, 1338094: 1338094

Expression for Robinow Syndrome, Autosomal Dominant 2

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

Pathways for Robinow Syndrome, Autosomal Dominant 2

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

id Super pathways Score Top Affiliating Genes
1 11.34 ARF1 DNAJC6 SNX3 VPS45
2 10.61 ARF1 VPS45

GO Terms for Robinow Syndrome, Autosomal Dominant 2

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

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.43 ATP8A2 SNX3 VPS45
2 synapse GO:0045202 9.33 ARF1 DNAJC6 DVL1
3 clathrin-coated vesicle GO:0030136 8.96 DVL1 SNX3
4 postsynaptic density GO:0014069 8.8 ARF1 DNAJC6 DVL1

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

id Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 ARF1 SNX3 VPS45
2 axonogenesis GO:0007409 8.96 ATP8A2 DVL1
3 positive regulation of neuron projection development GO:0010976 8.8 ATP8A2 DVL1 SNX3

Sources for Robinow Syndrome, Autosomal Dominant 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....