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 57 75
Drs1 57 12 75
Acral Dysostosis with Facial and Genital Abnormalities 57 75
Autosomal Dominant Robinow Syndrome 1 12 15
Fetal Face Syndrome 57 75
Robinow Dwarfism 57 75
Dysostosis Acral with Facial and Genital Abnormalities 53

Characteristics:

OMIM:

57
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 : 57 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. 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, and related phenotypes are macrocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 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 Ror2-Related 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 31.6 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:

57
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 Ribs Sternum Clavicles And Scapulae:
pectus excavatum (44%)

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

GenitourinaryInternal GenitaliaMale:
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:

32 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 malar flattening 32 HP:0000272
3 hypertelorism 32 HP:0000316
4 low-set ears 32 very rare (1%) HP:0000369
5 short neck 32 very rare (1%) HP:0000470
6 pectus excavatum 32 HP:0000767
7 frontal bossing 32 HP:0002007
8 clinodactyly 32 HP:0030084
9 high palate 32 very rare (1%) HP:0000218
10 intellectual disability 32 HP:0001249
11 inguinal hernia 32 HP:0000023
12 macroglossia 32 HP:0000158
13 narrow palate 32 very rare (1%) HP:0000189
14 gingival overgrowth 32 HP:0000212
15 global developmental delay 32 HP:0001263
16 delayed skeletal maturation 32 HP:0002750
17 depressed nasal bridge 32 very rare (1%) HP:0005280
18 wide nasal bridge 32 HP:0000431
19 umbilical hernia 32 HP:0001537
20 short nose 32 very rare (1%) HP:0003196
21 anteverted nares 32 very rare (1%) HP:0000463
22 broad thumb 32 HP:0011304
23 long philtrum 32 HP:0000343
24 micrognathia 32 HP:0000347
25 retrognathia 32 very rare (1%) HP:0000278
26 delayed eruption of teeth 32 HP:0000684
27 short palm 32 HP:0004279
28 epicanthus 32 very rare (1%) HP:0000286
29 cryptorchidism 32 HP:0000028
30 flat face 32 HP:0012368
31 rhizomelia 32 very rare (1%) HP:0008905
32 small hand 32 very rare (1%) HP:0200055
33 dental crowding 32 HP:0000678
34 downslanted palpebral fissures 32 HP:0000494
35 upslanted palpebral fissure 32 very rare (1%) HP:0000582
36 brachydactyly 32 HP:0001156
37 downturned corners of mouth 32 very rare (1%) HP:0002714
38 thin upper lip vermilion 32 very rare (1%) HP:0000219
39 renal duplication 32 HP:0000075
40 nevus flammeus 32 HP:0001052
41 midface retrusion 32 HP:0011800
42 wide anterior fontanel 32 HP:0000260
43 long palpebral fissure 32 HP:0000637
44 nail dysplasia 32 very rare (1%) HP:0002164
45 proptosis 32 HP:0000520
46 long eyelashes 32 very rare (1%) HP:0000527
47 hydronephrosis 32 HP:0000126
48 oral cleft 32 very rare (1%) HP:0000202
49 hypoplastic labia majora 32 HP:0000059
50 micropenis 32 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:

41
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:

75
# 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 top 50) (show all 354)
# 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.544T> C (p.Cys182Arg) single nucleotide variant Pathogenic rs387906663 GRCh38 Chromosome 3, 55474477: 55474477
3 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh38 Chromosome 3, 55479457: 55479457
4 WNT5A NM_003392.4(WNT5A): c.248G> C (p.Cys83Ser) single nucleotide variant Pathogenic rs786200925 GRCh37 Chromosome 3, 55513485: 55513485
5 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh37 Chromosome 3, 55508562: 55508562
6 WNT5A NM_003392.4(WNT5A): c.487G> C (p.Gly163Arg) single nucleotide variant Likely pathogenic rs587784562 GRCh38 Chromosome 3, 55474534: 55474534
7 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh37 Chromosome 3, 55508644: 55508644
8 WNT5A NM_003392.4(WNT5A): c.405G> T (p.Thr135=) single nucleotide variant Benign rs147104982 GRCh38 Chromosome 3, 55474616: 55474616
9 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh37 Chromosome 3, 55513331: 55513331
10 WNT5A NM_003392.4(WNT5A): c.391+11A> G single nucleotide variant Uncertain significance rs6790979 GRCh38 Chromosome 3, 55479303: 55479303
11 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh37 Chromosome 3, 55513600: 55513600
12 WNT5A NM_003392.4(WNT5A): c.141-8C> G single nucleotide variant Uncertain significance rs188798140 GRCh38 Chromosome 3, 55479572: 55479572
13 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
14 WNT5A NM_003392.4(WNT5A): c.141-9C> T single nucleotide variant Uncertain significance rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
15 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh37 Chromosome 3, 55513601: 55513601
16 WNT5A NM_003392.4(WNT5A): c.141-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs181894008 GRCh38 Chromosome 3, 55479573: 55479573
17 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh37 Chromosome 3, 55514799: 55514799
18 WNT5A NM_003392.4(WNT5A): c.140+14A> G single nucleotide variant Uncertain significance rs139616809 GRCh38 Chromosome 3, 55480771: 55480771
19 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh37 Chromosome 9, 94485971: 94485971
20 ROR2 NM_004560.3(ROR2): c.2805C> G (p.Asp935Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs41277835 GRCh38 Chromosome 9, 91723689: 91723689
21 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh37 Chromosome 9, 94486321: 94486321
22 ROR2 NM_004560.3(ROR2): c.2455G> A (p.Val819Ile) single nucleotide variant Benign rs10761129 GRCh38 Chromosome 9, 91724039: 91724039
23 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh37 Chromosome 9, 94486491: 94486491
24 ROR2 NM_004560.3(ROR2): c.2285C> T (p.Ser762Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34491822 GRCh38 Chromosome 9, 91724209: 91724209
25 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh37 Chromosome 9, 94486622: 94486622
26 ROR2 NM_004560.3(ROR2): c.2154C> T (p.Pro718=) single nucleotide variant Benign rs2230577 GRCh38 Chromosome 9, 91724340: 91724340
27 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh37 Chromosome 9, 94486688: 94486688
28 ROR2 NM_004560.3(ROR2): c.2088C> T (p.Tyr696=) single nucleotide variant Benign rs10992063 GRCh38 Chromosome 9, 91724406: 91724406
29 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh37 Chromosome 9, 94486693: 94486693
30 ROR2 NM_004560.3(ROR2): c.2083G> A (p.Gly695Arg) single nucleotide variant Benign rs34431454 GRCh38 Chromosome 9, 91724411: 91724411
31 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh37 Chromosome 9, 94486817: 94486817
32 ROR2 NM_004560.3(ROR2): c.1959G> A (p.Leu653=) single nucleotide variant Conflicting interpretations of pathogenicity rs144549032 GRCh38 Chromosome 9, 91724535: 91724535
33 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh37 Chromosome 9, 94487066: 94487066
34 ROR2 NM_004560.3(ROR2): c.1710G> A (p.Pro570=) single nucleotide variant Benign/Likely benign rs41277837 GRCh38 Chromosome 9, 91724784: 91724784
35 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh37 Chromosome 9, 94493330: 94493330
36 ROR2 NM_004560.3(ROR2): c.1045C> G (p.His349Asp) single nucleotide variant Benign rs55983376 GRCh38 Chromosome 9, 91731048: 91731048
37 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh37 Chromosome 9, 94493389: 94493389
38 ROR2 NM_004560.3(ROR2): c.986G> A (p.Ser329Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371221714 GRCh38 Chromosome 9, 91731107: 91731107
39 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh37 Chromosome 9, 94495608: 94495608
40 ROR2 NM_004560.3(ROR2): c.733A> G (p.Thr245Ala) single nucleotide variant Benign rs10820900 GRCh38 Chromosome 9, 91733326: 91733326
41 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh37 Chromosome 9, 94499797: 94499797
42 ROR2 NM_004560.3(ROR2): c.498T> C (p.Asp166=) single nucleotide variant Benign rs16907720 GRCh38 Chromosome 9, 91737515: 91737515
43 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh37 Chromosome 9, 94538115: 94538115
44 ROR2 NM_004560.3(ROR2): c.98-15G> C single nucleotide variant Benign rs7863557 GRCh38 Chromosome 9, 91775833: 91775833
45 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh37 Chromosome 9, 94712171: 94712171
46 ROR2 NM_004560.3(ROR2): c.75G> A (p.Leu25=) single nucleotide variant Conflicting interpretations of pathogenicity rs148237260 GRCh38 Chromosome 9, 91949889: 91949889
47 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh38 Chromosome 3, 55474476: 55474476
48 WNT5A NM_003392.4(WNT5A): c.545G> C (p.Cys182Ser) single nucleotide variant Pathogenic rs869312850 GRCh37 Chromosome 3, 55508504: 55508504
49 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh38 Chromosome 3, 55479448: 55479448
50 WNT5A NM_003392.4(WNT5A): c.257A> G (p.Tyr86Cys) single nucleotide variant Pathogenic rs786204836 GRCh37 Chromosome 3, 55513476: 55513476

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.49 DVL3 WNT5A
2 canonical Wnt signaling pathway GO:0060070 9.48 DVL3 WNT5A
3 cellular response to calcium ion GO:0071277 9.46 AARS WNT5A
4 cytoplasmic microtubule organization GO:0031122 9.43 SLK VPS4B
5 positive regulation of JUN kinase activity GO:0043507 9.4 DVL3 WNT5A
6 non-canonical Wnt signaling pathway GO:0035567 9.37 DVL3 WNT5A
7 establishment of epithelial cell apical/basal polarity GO:0045198 9.32 MSN WNT5A
8 regulation of cellular protein localization GO:1903827 9.26 DVL3 WNT5A
9 planar cell polarity pathway involved in neural tube closure GO:0090179 9.16 DVL3 WNT5A
10 positive regulation of neuron projection arborization GO:0150012 8.96 DVL3 WNT5A
11 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 signaling 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

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