MCID: RBN018
MIFTS: 36

Robinow Syndrome, Autosomal Dominant 1

Categories: Genetic diseases, Fetal diseases, Bone diseases, Rare 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 54 24 71
Autosomal Dominant Robinow Syndrome 1 12 14
Drs1 12 71
Acral Dysostosis with Facial and Genital Abnormalities 71
Wnt5a-Related Robinow Syndrome, Autosomal Dominant 24
Fetal Face Syndrome 71
Robinow Dwarfism 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
see also autosomal recessive robinow syndrome


HPO:

32
robinow syndrome, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Robinow Syndrome, Autosomal Dominant 1

OMIM : 54
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 autosomal dominant robinow syndrome 1, is related to robinow syndrome and renal-hepatic-pancreatic dysplasia, and has symptoms including short stature, long eyelashes and macroglossia. 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

Graphical network of the top 20 diseases related to Robinow Syndrome, Autosomal Dominant 1:



Diseases related to Robinow Syndrome, Autosomal Dominant 1

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Mouth:
macroglossia
triangular mouth (65%)
downturned corners of mouth (63%)
thin upper lip (50%)
gingival hyperplasia (36%)
more
Head And Neck- Ears:
posteriorly rotated ears
low-set ears (28%)

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%)

Head And Neck- Neck:
short neck (29%)

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum (44%)

Genitourinary- External Genitalia Male:
small penis (84%)
inguinal hernia (17%)

Genitourinary- Internal Genitalia Male:
cryptorchidism (72%)

Skeletal- Hands:
small hands (62%)
brachydactyly (81%)
clinodactyly (70%)
broad thumbs (36%)
brachymesophalangism v
more
Skin Nails & Hair- Skin:
nevus flammeus

Neurologic- Central Nervous System:
developmental delay (20%)
mental retardation (20%)

Skeletal:
delayed bone age

Genitourinary- Kidneys:
hydronephrosis
renal anomalies (27%)
renal duplication

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- Teeth:
crowded teeth (49%)
infranumerary teeth (16%)
delayed dental eruption
wide retromolar ridge

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%)

Skeletal- Feet:
bifid terminal phalanges
broad toes (33%)

Skin Nails & Hair- Nails:
nail dysplasia (22%)


Clinical features from OMIM:

180700

Human phenotypes related to Robinow Syndrome, Autosomal Dominant 1:

32 (show top 50) (show all 62)
id Description HPO Frequency HPO Source Accession
1 short stature 32 very rare (1%) HP:0004322
2 long eyelashes 32 very rare (1%) HP:0000527
3 macroglossia 32 HP:0000158
4 umbilical hernia 32 HP:0001537
5 low-set ears 32 very rare (1%) HP:0000369
6 micrognathia 32 HP:0000347
7 depressed nasal bridge 32 very rare (1%) HP:0005280
8 micropenis 32 HP:0000054
9 hypertelorism 32 HP:0000316
10 proptosis 32 HP:0000520
11 retrognathia 32 very rare (1%) HP:0000278
12 frontal bossing 32 HP:0002007
13 posteriorly rotated ears 32 HP:0000358
14 short nose 32 very rare (1%) HP:0003196
15 anteverted nares 32 very rare (1%) HP:0000463
16 global developmental delay 32 HP:0001263
17 narrow palate 32 very rare (1%) HP:0000189
18 hydronephrosis 32 HP:0000126
19 hypoplastic labia majora 32 HP:0000059
20 cryptorchidism 32 HP:0000028
21 short neck 32 very rare (1%) HP:0000470
22 macrocephaly 32 HP:0000256
23 inguinal hernia 32 HP:0000023
24 intellectual disability 32 HP:0001249
25 long philtrum 32 HP:0000343
26 clinodactyly 32 HP:0030084
27 wide nasal bridge 32 HP:0000431
28 pectus excavatum 32 HP:0000767
29 midface retrusion 32 HP:0011800
30 wide anterior fontanel 32 HP:0000260
31 downslanted palpebral fissures 32 HP:0000494
32 flat face 32 HP:0012368
33 high palate 32 very rare (1%) HP:0000218
34 mesomelia 32 HP:0003027
35 rhizomelia 32 very rare (1%) HP:0008905
36 epicanthus 32 very rare (1%) HP:0000286
37 delayed skeletal maturation 32 HP:0002750
38 downturned corners of mouth 32 very rare (1%) HP:0002714
39 malar flattening 32 HP:0000272
40 right ventricular outlet obstruction 32 HP:0001705
41 renal duplication 32 HP:0000075
42 nevus flammeus 32 HP:0001052
43 dental crowding 32 HP:0000678
44 nail dysplasia 32 very rare (1%) HP:0002164
45 short middle phalanx of the 5th finger 32 HP:0004220
46 triangular mouth 32 HP:0000207
47 thin upper lip vermilion 32 very rare (1%) HP:0000219
48 broad thumb 32 HP:0011304
49 delayed eruption of teeth 32 HP:0000684
50 clitoral hypoplasia 32 HP:0000060

Drugs & Therapeutics for Robinow Syndrome, Autosomal Dominant 1

Drugs for Robinow Syndrome, Autosomal Dominant 1 (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 1

Genetic Tests for Robinow Syndrome, Autosomal Dominant 1

Genetic tests related to Robinow Syndrome, Autosomal Dominant 1:

id Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Dominant 1 24 WNT5A

Anatomical Context for Robinow Syndrome, Autosomal Dominant 1

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

39
Tongue, Bone, Eye

Publications for Robinow Syndrome, Autosomal Dominant 1

Variations for Robinow Syndrome, Autosomal Dominant 1

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

71
id 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
id 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.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
4 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
5 WNT5A NM_003392.4(WNT5A): c.206G> A (p.Cys69Tyr) single nucleotide variant Pathogenic rs786204837 GRCh38 Chromosome 3, 55479499: 55479499
6 DVL3 NM_004423.3(DVL3): c.1585delG (p.Ala529Profs) deletion Pathogenic rs869025215 GRCh37 Chromosome 3, 183887880: 183887880
7 DVL3 NM_004423.3(DVL3): c.1715-2A> G single nucleotide variant Pathogenic rs869025216 GRCh37 Chromosome 3, 183888105: 183888105
8 DVL3 NM_004423.3(DVL3): c.1715-1G> A single nucleotide variant Pathogenic rs869025217 GRCh37 Chromosome 3, 183888106: 183888106
9 DVL3 NM_004423.3(DVL3): c.1716delC (p.Ser573Valfs) deletion Pathogenic rs869025218 GRCh37 Chromosome 3, 183888108: 183888108
10 DVL3 NM_004423.3(DVL3): c.1749delC (p.Ser583Argfs) deletion Pathogenic rs869025219 GRCh37 Chromosome 3, 183888141: 183888141

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:

id 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:

id 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:

id 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:

id 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
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....