DRS3
MCID: ATS328
MIFTS: 14

Autosomal Dominant Robinow Syndrome 3 (DRS3) malady

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

Aliases & Classifications for Autosomal Dominant Robinow Syndrome 3

Summaries for Autosomal Dominant Robinow Syndrome 3

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.

MalaCards based summary : Autosomal Dominant Robinow Syndrome 3, also known as drs3, is related to congenital secretory sodium diarrhea 8. An important gene associated with Autosomal Dominant Robinow Syndrome 3 is DVL3 (Dishevelled Segment Polarity Protein 3). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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 Autosomal Dominant Robinow Syndrome 3

Diseases in the Robinow Syndrome family:

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

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

id Related Disease Score Top Affiliating Genes
1 congenital secretory sodium diarrhea 8 9.8 DVL3 TUBA4A

Symptoms & Phenotypes for Autosomal Dominant Robinow Syndrome 3

Drugs & Therapeutics for Autosomal Dominant Robinow Syndrome 3

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Robinow Syndrome 3

Genetic Tests for Autosomal Dominant Robinow Syndrome 3

Anatomical Context for Autosomal Dominant Robinow Syndrome 3

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

39
Eye

Publications for Autosomal Dominant Robinow Syndrome 3

Variations for Autosomal Dominant Robinow Syndrome 3

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

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

Pathways for Autosomal Dominant Robinow Syndrome 3

GO Terms for Autosomal Dominant Robinow Syndrome 3

Sources for Autosomal Dominant Robinow Syndrome 3

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10 dbSNP
11 DGIdb
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65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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