MCID: RBN018
MIFTS: 39

Robinow Syndrome, Autosomal Dominant 1

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

Aliases & Classifications for Robinow Syndrome, Autosomal Dominant 1

MalaCards integrated aliases for Robinow Syndrome, Autosomal Dominant 1:

Name: Robinow Syndrome, Autosomal Dominant 1 53 71
Drs1 53 12 71
Acral Dysostosis with Facial and Genital Abnormalities 53 71
Autosomal Dominant Robinow Syndrome 1 12 14
Fetal Face Syndrome 53 71
Robinow Dwarfism 53 71
Dysostosis Acral with Facial and Genital Abnormalities 49

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
see also autosomal recessive robinow syndrome


HPO:

31
robinow syndrome, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Dominant 1

OMIM : 53 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, and has symptoms including macrocephaly, malar flattening and hypertelorism. 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 tongue, bone and eye.

UniProtKB/Swiss-Prot : 71 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.

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.

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 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 31.8 DVL3 WNT5A
2 autosomal dominant robinow syndrome 10.0 DVL3 WNT5A
3 robinow syndrome, autosomal dominant 3 10.0 DVL3 TUBA4A

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

53
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 RibsSternum 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:

31 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 malar flattening 31 HP:0000272
3 hypertelorism 31 HP:0000316
4 low-set ears 31 very rare (1%) HP:0000369
5 short neck 31 very rare (1%) HP:0000470
6 pectus excavatum 31 HP:0000767
7 frontal bossing 31 HP:0002007
8 clinodactyly 31 HP:0030084
9 high palate 31 very rare (1%) HP:0000218
10 intellectual disability 31 HP:0001249
11 inguinal hernia 31 HP:0000023
12 macroglossia 31 HP:0000158
13 narrow palate 31 very rare (1%) HP:0000189
14 gingival overgrowth 31 HP:0000212
15 global developmental delay 31 HP:0001263
16 delayed skeletal maturation 31 HP:0002750
17 depressed nasal bridge 31 very rare (1%) HP:0005280
18 wide nasal bridge 31 HP:0000431
19 umbilical hernia 31 HP:0001537
20 short nose 31 very rare (1%) HP:0003196
21 anteverted nares 31 very rare (1%) HP:0000463
22 short stature 31 very rare (1%) HP:0004322
23 broad thumb 31 HP:0011304
24 long philtrum 31 HP:0000343
25 micrognathia 31 HP:0000347
26 retrognathia 31 very rare (1%) HP:0000278
27 delayed eruption of teeth 31 HP:0000684
28 short palm 31 HP:0004279
29 epicanthus 31 very rare (1%) HP:0000286
30 cryptorchidism 31 HP:0000028
31 flat face 31 HP:0012368
32 rhizomelia 31 very rare (1%) HP:0008905
33 small hand 31 very rare (1%) HP:0200055
34 dental crowding 31 HP:0000678
35 downslanted palpebral fissures 31 HP:0000494
36 upslanted palpebral fissure 31 very rare (1%) HP:0000582
37 downturned corners of mouth 31 very rare (1%) HP:0002714
38 thin upper lip vermilion 31 very rare (1%) HP:0000219
39 renal duplication 31 HP:0000075
40 nevus flammeus 31 HP:0001052
41 midface retrusion 31 HP:0011800
42 wide anterior fontanel 31 HP:0000260
43 long palpebral fissure 31 HP:0000637
44 nail dysplasia 31 very rare (1%) HP:0002164
45 proptosis 31 HP:0000520
46 long eyelashes 31 very rare (1%) HP:0000527
47 hydronephrosis 31 HP:0000126
48 oral cleft 31 very rare (1%) HP:0000202
49 hypoplastic labia majora 31 HP:0000059
50 micropenis 31 HP:0000054

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
1
Pembrolizumab Approved Phase 3 1374853-91-4
2 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

Genetic Tests for Robinow Syndrome, Autosomal Dominant 1

Anatomical Context for Robinow Syndrome, Autosomal Dominant 1

MalaCards organs/tissues related to Robinow Syndrome, Autosomal Dominant 1:

38
Tongue, Bone, Eye

Publications for Robinow Syndrome, Autosomal Dominant 1

Articles related to Robinow Syndrome, Autosomal Dominant 1:

# Title Authors Year
1
Robinow syndrome (Fetal Face syndrome). ( 6676283 )
1983
2
Fetal face syndrome with acral dysostosis. ( 4838165 )
1974

Variations for Robinow Syndrome, Autosomal Dominant 1

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

71
# 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 all 13)
# 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.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
3 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh38 Chromosome 3, 55474534: 55474534
4 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
5 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
6 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh38 Chromosome 3, 55479499: 55479499
7 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
8 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
9 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
10 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
11 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141
12 WNT5A NM_003392.4(WNT5A): c.487_492dup (p.Cys164_Ser165insGlyCys) duplication Likely pathogenic GRCh37 Chromosome 3, 55508557: 55508562
13 WNT5A NM_003392.4(WNT5A): c.479C> G (p.Ser160Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 55508570: 55508570

Expression for Robinow Syndrome, Autosomal Dominant 1

Search GEO for disease gene expression data for Robinow Syndrome, Autosomal Dominant 1.

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 10.1 DVL3 WNT5A

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 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.43 DVL3 WNT5A
2 canonical Wnt signaling pathway GO:0060070 9.4 DVL3 WNT5A
3 positive regulation of JUN kinase activity GO:0043507 9.37 DVL3 WNT5A
4 non-canonical Wnt signaling pathway GO:0035567 9.32 DVL3 WNT5A
5 establishment of epithelial cell apical/basal polarity GO:0045198 9.26 MSN WNT5A
6 planar cell polarity pathway involved in neural tube closure GO:0090179 9.16 DVL3 WNT5A
7 regulation of cellular protein localization GO:1903827 8.96 DVL3 WNT5A
8 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 receptor binding GO:0005102 9.13 DVL3 MSN WNT5A
2 frizzled binding GO:0005109 8.62 DVL3 WNT5A

Sources for Robinow Syndrome, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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