MCID: RBN020
MIFTS: 24

Robinow Syndrome, Autosomal Dominant 3

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

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 3

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 3:

Name: Robinow Syndrome, Autosomal Dominant 3 54 71
Autosomal Dominant Robinow Syndrome 3 12 14
Drs3 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 616894
Disease Ontology 12 DOID:0060767
ICD10 33 Q87.1
MedGen 40 CN235904

Summaries for Robinow Syndrome, Autosomal Dominant 3

OMIM : 54
The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016). For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (268310). (616894)

MalaCards based summary : Robinow Syndrome, Autosomal Dominant 3, also known as autosomal dominant robinow syndrome 3, is related to bile acid synthesis defect, congenital, 6 and fanconi renotubular syndrome 3. An important gene associated with Robinow Syndrome, Autosomal Dominant 3 is DVL3 (Dishevelled Segment Polarity Protein 3). The drugs Pembrolizumab and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and tongue.

Disease Ontology : 12 A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has material basis in heterozygous mutation in the DVL3 gene on chromosome 3q27.

UniProtKB/Swiss-Prot : 71 Robinow syndrome, autosomal dominant 3: A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital hypoplasia, renal anomalies, and costovertebral segmentation defects.

Related Diseases for Robinow Syndrome, Autosomal Dominant 3

Diseases in the Robinow Syndrome family:

Robinow Syndrome, Autosomal Dominant 2 Robinow Syndrome, Autosomal Dominant 1
Robinow Syndrome, Autosomal Dominant 3 Robinow Syndrome, Autosomal Recessive
Autosomal Dominant Robinow Syndrome Ror2-Related Robinow Syndrome
Robinow-Like Syndrome

Diseases related to Robinow Syndrome, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bile acid synthesis defect, congenital, 6 9.5 DVL3 TUBA4A
2 fanconi renotubular syndrome 3 9.2 DVL3 TUBA4A

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 3

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

Head And Neck- Mouth:
cleft palate
cleft lip (in some patients)
gingival hyperplasia
downturned mouth
bilobed tongue

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

Skeletal- Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Head And Neck- Neck:
short neck (in some patients)
webbed neck (in some patients)

Head And Neck- Head:
macrocephaly (in some patients)

Head And Neck- Teeth:
missing teeth (in some patients)
malocclusion (in some patients)

Genitourinary- External Genitalia Male:
buried penis (in 1 patient)

Skeletal- Feet:
broad first toe (in some patients)

Skeletal- Hands:
brachydactyly
clinodactyly
hypoplastic phalanges (in some patients)
broad thumb (in some patients)

Head And Neck- Eyes:
prominent eyes
epicanthal folds (in some patients)
hypertelorism (in some patients)
upslanting palpebral fissures
telecanthus (in some patients)
more
Cardiovascular- Vascular:
patent ductus arteriosus

Cardiovascular- Heart:
ventricular septal defect
patent foramen ovale
pulmonary atresia
hypoplastic right heart
tricuspid regurgitation

Skeletal- Limbs:
mesomelia

Skeletal- Skull:
macrocephaly (in some patients)

Head And Neck- Ears:
hearing loss (rare)
low-set ears (rare)

Abdomen- Gastroin testinal:
short gut (rare)
anteriorly placed anus (rare)

Genitourinary- Internal Genitalia Male:
cryptorchidism (in 1 patient)


Clinical features from OMIM:

616894

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 3

Drugs for Robinow Syndrome, Autosomal Dominant 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 3 1374853-91-4
2 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


id 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 3

Genetic Tests for Robinow Syndrome, Autosomal Dominant 3

Anatomical Context for Robinow Syndrome, Autosomal Dominant 3

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 3:

39
Eye, Heart, Tongue

Publications for Robinow Syndrome, Autosomal Dominant 3

Variations for Robinow Syndrome, Autosomal Dominant 3

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Dominant 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
2 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
3 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
4 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
5 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141

Expression for Robinow Syndrome, Autosomal Dominant 3

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 3.

Pathways for Robinow Syndrome, Autosomal Dominant 3

GO Terms for Robinow Syndrome, Autosomal Dominant 3

Sources for Robinow Syndrome, Autosomal Dominant 3

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
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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
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