RRS1
MCID: RBN022
MIFTS: 54

Robinow Syndrome, Autosomal Recessive 1 (RRS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Robinow Syndrome, Autosomal Recessive 1

MalaCards integrated aliases for Robinow Syndrome, Autosomal Recessive 1:

Name: Robinow Syndrome, Autosomal Recessive 1 56
Robinow Syndrome, Autosomal Recessive 56 29 13 54 6 39
Covesdem Syndrome 12 74 58 73
Autosomal Recessive Robinow Syndrome 12 58 15
Rrs 12 58 73
Costovertebral Segmentation Defect-Mesomelia Syndrome 12 58
Robinow Syndrome, Autosomal Recessive, with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 6
Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals 73
Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly 6
Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly 73
Costovertebral Segmentation Defect with Mesomelia, Formerly 56
Costovertebral Segmentation Defect with Mesomelia 73
Robinow Syndrome Autosomal Recessive 73
Covesdem Syndrome, Formerly 56
Rrs1 56

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive robinow syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
see also autosomal dominant robinow syndrome
allelic disorder to brachydactyly type b


HPO:

31
robinow syndrome, autosomal recessive 1:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Robinow Syndrome, Autosomal Recessive 1

UniProtKB/Swiss-Prot : 73 Robinow syndrome autosomal recessive: A recessive form of Robinow syndrome, a disease characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. The clinical signs are generally far more severe in recessive cases, particularly skeletal abnormalities. All patients with the recessive form suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form. Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet.

MalaCards based summary : Robinow Syndrome, Autosomal Recessive 1, also known as robinow syndrome, autosomal recessive, is related to robinow syndrome and brachydactyly, type b1. An important gene associated with Robinow Syndrome, Autosomal Recessive 1 is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Affiliated tissues include bone, tongue and eye, and related phenotypes are hypertelorism and open bite

Disease Ontology : 12 A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has material basis in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.

OMIM : 56 Autosomal recessive Robinow syndrome-1 is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). (268310)

Wikipedia : 74 Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism,... more...

Related Diseases for Robinow Syndrome, Autosomal Recessive 1

Diseases in the Robinow Syndrome family:

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

Diseases related to Robinow Syndrome, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 robinow syndrome 31.1 WNT5A UVSSA SRR RRS1 ROR2 RARS2
2 brachydactyly, type b1 30.9 WNT5A ROR2
3 robinow syndrome, autosomal recessive 2 11.3
4 richards-rundle syndrome 11.3
5 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.3
6 flinders island spotted fever 11.2
7 robinow syndrome, autosomal dominant 1 11.2
8 uv-sensitive syndrome 1 11.2
9 uv-sensitive syndrome 2 11.2
10 uv-sensitive syndrome 3 11.2
11 robinow syndrome, autosomal dominant 2 11.2
12 robinow syndrome, autosomal dominant 3 11.2
13 chaotic atrial tachycardia 11.2
14 n syndrome 10.6 NXN H2AC18
15 atrial fibrillation 10.6
16 cockayne syndrome type iii 10.5 ERCC8 ERCC6
17 chromosome 10q26 deletion syndrome 10.5 ERCC6 ATE1
18 autosomal dominant robinow syndrome 10.5 WNT5A ROR2
19 fallopian tube serous adenocarcinoma 10.5 WNT5A ROR2
20 epilepsy, familial temporal lobe, 1 10.5 H2AC18 ERCC6 EPRS1
21 deafness, autosomal recessive 89 10.5 RARS2 KARS1 EPRS1
22 leukodystrophy, hypomyelinating, 9 10.5 RARS1 ERCC6
23 leukodystrophy, hypomyelinating, 3 10.5 AIMP2 AIMP1
24 charcot-marie-tooth disease, axonal, type 2n 10.5 KARS1 EPRS1
25 disorders of sexual development 10.5 H2AC18 ERCC6 EPRS1
26 cerebral degeneration 10.5 H2AC18 ERCC6 EPRS1
27 usher syndrome, type iiib 10.5 MARS1 EPRS1
28 congenital nervous system abnormality 10.5 H2AC18 ERCC6 EPRS1
29 charcot-marie-tooth disease, axonal, type 2u 10.5 MARS1 KARS1 EPRS1
30 charcot-marie-tooth disease, dominant intermediate c 10.5 MARS1 KARS1 EPRS1
31 charcot-marie-tooth disease, axonal, type 2d 10.5 MARS1 KARS1 EPRS1
32 muscular disease 10.5 H2AC18 ERCC6 EPRS1
33 xeroderma pigmentosum, complementation group a 10.5 XPA H2AC18 ERCC6
34 xeroderma pigmentosum, complementation group c 10.5 XPA H2AC18 ERCC6
35 physical disorder 10.5 H2AC18 ERCC6 EPRS1
36 autosomal dominant distal hereditary motor neuronopathy 10.4 MARS1 KARS1 EPRS1
37 x-linked recessive disease 10.4 H2AC18 ERCC6 EPRS1
38 ror2-related robinow syndrome 10.4
39 pelizaeus-merzbacher disease 10.4 RARS1 H2AC18 ERCC6
40 primary microcephaly 10.4 H2AC18 ERCC6 EPRS1
41 pontocerebellar hypoplasia, type 6 10.4 RARS2 KARS1
42 pontocerebellar hypoplasia 10.4 RARS2 H2AC18 EPRS1
43 perrault syndrome 10.4 RARS2 KARS1 EPRS1
44 enophthalmos 10.4 ERCC8 ERCC6
45 x-linked monogenic disease 10.4 H2AC18 ERCC6 EPRS1
46 hypomyelinating leukodystrophy 10.4 H2AC18 ERCC6 EPRS1 AIMP1
47 muscle tissue disease 10.4 H2AC18 ERCC6 EPRS1
48 cardiac conduction defect 10.4
49 congestive heart failure 10.4
50 eye degenerative disease 10.4 H2AC18 ERCC6 EPRS1

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



Diseases related to Robinow Syndrome, Autosomal Recessive 1

Symptoms & Phenotypes for Robinow Syndrome, Autosomal Recessive 1

Human phenotypes related to Robinow Syndrome, Autosomal Recessive 1:

58 31 (show top 50) (show all 116)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 open bite 58 31 hallmark (90%) Very frequent (99-80%) HP:0010807
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 short nose 58 31 very rare (1%) Very frequent (99-80%) HP:0003196
5 anteverted nares 58 31 very rare (1%) Very frequent (99-80%) HP:0000463
6 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
7 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
8 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
9 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
10 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
11 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
12 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
13 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
14 disproportionate short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008873
15 mesomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003027
16 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
17 depressed nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0005280
18 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
19 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
20 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
21 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
22 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
23 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
24 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
25 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
26 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
27 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
28 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
29 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
30 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
31 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
32 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
33 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
34 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
35 rib fusion 58 31 frequent (33%) Frequent (79-30%) HP:0000902
36 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
37 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
38 long eyelashes 58 31 very rare (1%) Frequent (79-30%) HP:0000527
39 fingernail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100798
40 bifid tongue 58 31 very rare (1%) Frequent (79-30%) HP:0010297
41 long palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000637
42 ankyloglossia 58 31 frequent (33%) Frequent (79-30%) HP:0010296
43 hypoplastic female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0012815
44 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
45 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
46 short neck 58 31 very rare (1%) Occasional (29-5%) HP:0000470
47 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
48 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
49 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
50 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
absent uvula
downturned mouth corners (95%)
triangular mouth (86%)
thin upper lip (29%)
more
Genitourinary Kidneys:
hydronephrosis
renal duplication (10%)

Head And Neck Ears:
posteriorly rotated ears
low-set ears (45%)

Neurologic Central Nervous System:
developmental delay
mental retardation (18% of patients)

Skeletal:
delayed bone age

Head And Neck Head:
large anterior fontanel
delayed fontanel closure
macrocephaly (26%)

Chest Ribs Sternum Clavicles And Scapulae:
absent ribs
pectus excavatum (31%)
rib fusion (100%)

Head And Neck Nose:
anteverted nares (96%)
short, upturned nose (95%)
broad nasal bridge (95%)
depressed nasal bridge (49%)

Skeletal Feet:
bifid terminal phalanges
broad toes (24%)

Head And Neck Neck:
short neck (31%)

Genitourinary External Genitalia Female:
small clitoris (80%)
small labia minora (81%)
small labia majora (40%)

Skeletal Limbs:
mesomelia (100%)
limited elbow supination (37%)

Abdomen External Features:
umbilical hernia
abnormal umbilicus

Skin Nails Hair Skin:
nevus flammeus

Skeletal Spine:
thoracolumbar scoliosis
hypoplastic sacrum
fused vertebrae
scoliosis (77%)
thoracic hemivertebrae (98%)

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (100%)
wide palpebral fissures (34%)
prominent eyes (14%)
long eyelashes (59%)

Skeletal Hands:
brachymesophalangism v
bifid terminal phalanges
small hands (84%)
brachydactyly (91%)
clinodactyly (88%)
more
Head And Neck Face:
flat facial profile
frontal bossing (78%)
long philtrum (39%)
micrognathia (68%)
retrognathia (37%)
more
Head And Neck Teeth:
delayed eruption of secondary teeth
crowded teeth (94%)

Cardiovascular Heart:
right ventricular outlet obstruction

Growth Height:
short stature (postnatal onset) (97%)

Genitourinary External Genitalia Male:
small penis (100%)
inguinal hernia (21%)

Genitourinary Internal Genitalia Male:
cryptorchidism (67%)

Skin Nails Hair Nails:
nail dysplasia (35%)

Clinical features from OMIM:

268310

MGI Mouse Phenotypes related to Robinow Syndrome, Autosomal Recessive 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 AIMP1 ATE1 ERCC6 ERCC8 KARS1 NXN
2 mortality/aging MP:0010768 9.47 AIMP1 AIMP2 ATE1 EEF1E1 EPRS1 ERCC6

Drugs & Therapeutics for Robinow Syndrome, Autosomal Recessive 1

Search Clinical Trials , NIH Clinical Center for Robinow Syndrome, Autosomal Recessive 1

Genetic Tests for Robinow Syndrome, Autosomal Recessive 1

Genetic tests related to Robinow Syndrome, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Robinow Syndrome, Autosomal Recessive 29 ROR2

Anatomical Context for Robinow Syndrome, Autosomal Recessive 1

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

40
Bone, Tongue, Eye, Kidney

Publications for Robinow Syndrome, Autosomal Recessive 1

Articles related to Robinow Syndrome, Autosomal Recessive 1:

(show all 35)
# Title Authors PMID Year
1
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome. 6 56 54
15952209 2005
2
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. 6 56
19640924 2009
3
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. 6 56
18831060 2008
4
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 6 56
10986040 2000
5
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. 56 6
10932186 2000
6
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. 56 6
10932187 2000
7
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. 56 54
14745966 2004
8
Comment on COVESDEM syndrome. 61 56
3631143 1987
9
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. 61 56
3740094 1986
10
Covesdem syndrome. 61 56
458838 1979
11
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? 56 61
641945 1978
12
Craniofacial and intraoral phenotype of Robinow syndrome forms. 56
21496006 2011
13
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. 56
17256787 2007
14
ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. 6
16049033 2005
15
ROR2-Related Robinow Syndrome 6
20301418 2005
16
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. 56
10798366 2000
17
Recessive Robinow syndrome: with emphasis on endocrine functions. 56
9826209 1998
18
Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. 56
9738864 1998
19
Is the frequency of Robinow syndrome relatively high in Turkey? Four more case reports. 56
9383028 1997
20
Unusual traits associated with Robinow syndrome. 56
9321759 1997
21
Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand). 56
8287181 1993
22
Robinow syndrome in two siblings from consanguineous parents. 56
1505578 1992
23
Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. 56
2260598 1990
24
Autosomal recessive Robinow syndrome. 56
2301471 1990
25
[2 cases of Robinow's syndrome with mental retardation]. 56
2805135 1989
26
Robinow syndrome with parental consanguinity. 56
2744039 1989
27
Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies. 56
3189394 1988
28
Robinow syndrome without mesomelic 'brachymelia': a report of five cases. 56
3746837 1986
29
Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). 56
4724117 1973
30
Robinow Syndrome: A Rare Case Report and Review of Literature. 61
26379386 2015
31
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family. 54
19461659 2009
32
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved? 54
19236432 2009
33
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum. 54
17665217 2007
34
A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH. 54
17632781 2007
35
Covesdem syndrome. 61
7365769 1980

Variations for Robinow Syndrome, Autosomal Recessive 1

ClinVar genetic disease variations for Robinow Syndrome, Autosomal Recessive 1:

6 (show top 50) (show all 127) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROR2 NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter)SNV Pathogenic 7307 rs121909083 9:94487272-94487272 9:91724990-91724990
2 ROR2 NM_004560.4(ROR2):c.550C>T (p.Arg184Cys)SNV Pathogenic 7308 rs121909084 9:94499745-94499745 9:91737463-91737463
3 ROR2 NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter)SNV Pathogenic 7309 rs121909085 9:94486616-94486616 9:91724334-91724334
4 ROR2 NM_004560.4(ROR2):c.613C>T (p.Arg205Ter)SNV Pathogenic 7310 rs121909086 9:94499682-94499682 9:91737400-91737400
5 ROR2 NM_004560.4(ROR2):c.1321_1325del (p.Arg441fs)deletion Pathogenic 7311 rs863223290 9:94488884-94488888 9:91726602-91726606
6 ROR2 NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs)deletion Pathogenic 7313 rs863223291 9:94486833-94486839 9:91724551-91724557
7 ROR2 NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)SNV Pathogenic 7314 rs121909087 9:94519662-94519662 9:91757380-91757380
8 ROR2 NG_008089.1:g.218534_227384deldeletion Pathogenic 7315 9:94490061-94498911 9:91727779-91736629
9 ROR2 NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter)SNV Pathogenic 7318 rs267607016 9:94488885-94488885 9:91726603-91726603
10 ROR2 NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs)indel Likely pathogenic 627538 9:94487207-94487211 9:91724925-91724929
11 ROR2 NM_004560.4(ROR2):c.323G>A (p.Arg108Gln)SNV Likely pathogenic 627539 9:94519694-94519694 9:91757412-91757412
12 ROR2 NM_004560.4(ROR2):c.1716G>A (p.Ser572=)SNV Conflicting interpretations of pathogenicity 728288 9:94487060-94487060 9:91724778-91724778
13 ROR2 NM_004560.4(ROR2):c.*106C>TSNV Conflicting interpretations of pathogenicity 914737 9:94485838-94485838 9:91723556-91723556
14 ROR2 NM_004560.4(ROR2):c.2034C>T (p.Tyr678=)SNV Conflicting interpretations of pathogenicity 913199 9:94486742-94486742 9:91724460-91724460
15 ROR2 NM_004560.4(ROR2):c.1995G>C (p.Met665Ile)SNV Conflicting interpretations of pathogenicity 913200 9:94486781-94486781 9:91724499-91724499
16 ROR2 NM_004560.4(ROR2):c.1956G>A (p.Ser652=)SNV Conflicting interpretations of pathogenicity 914330 9:94486820-94486820 9:91724538-91724538
17 ROR2 NM_004560.4(ROR2):c.2382G>A (p.Pro794=)SNV Conflicting interpretations of pathogenicity 914291 9:94486394-94486394 9:91724112-91724112
18 ROR2 NM_004560.4(ROR2):c.1596A>G (p.Gln532=)SNV Conflicting interpretations of pathogenicity 913252 9:94487180-94487180 9:91724898-91724898
19 ROR2 NM_004560.4(ROR2):c.1317G>A (p.Pro439=)SNV Conflicting interpretations of pathogenicity 914867 9:94488892-94488892 9:91726610-91726610
20 ROR2 NM_004560.4(ROR2):c.760G>A (p.Asp254Asn)SNV Conflicting interpretations of pathogenicity 914919 9:94495581-94495581 9:91733299-91733299
21 ROR2 NM_004560.4(ROR2):c.722C>A (p.Ala241Glu)SNV Conflicting interpretations of pathogenicity 913333 9:94495619-94495619 9:91733337-91733337
22 ROR2 NM_004560.4(ROR2):c.155G>A (p.Gly52Asp)SNV Conflicting interpretations of pathogenicity 914967 9:94538043-94538043 9:91775761-91775761
23 ROR2 NM_004560.4(ROR2):c.146G>T (p.Gly49Val)SNV Conflicting interpretations of pathogenicity 913011 9:94538052-94538052 9:91775770-91775770
24 ROR2 NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)SNV Conflicting interpretations of pathogenicity 159819 rs41277835 9:94485971-94485971 9:91723689-91723689
25 ROR2 NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)SNV Conflicting interpretations of pathogenicity 159817 rs34491822 9:94486491-94486491 9:91724209-91724209
26 ROR2 NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)SNV Conflicting interpretations of pathogenicity 159824 rs371221714 9:94493389-94493389 9:91731107-91731107
27 ROR2 NM_004560.4(ROR2):c.75G>A (p.Leu25=)SNV Conflicting interpretations of pathogenicity 159822 rs148237260 9:94712171-94712171 9:91949889-91949889
28 ROR2 NM_004560.4(ROR2):c.1959G>A (p.Leu653=)SNV Conflicting interpretations of pathogenicity 159812 rs144549032 9:94486817-94486817 9:91724535-91724535
29 ROR2 NM_004560.4(ROR2):c.730C>T (p.Arg244Trp)SNV Conflicting interpretations of pathogenicity 198176 rs148340413 9:94495611-94495611 9:91733329-91733329
30 ROR2 NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)SNV Conflicting interpretations of pathogenicity 199096 rs141235720 9:94486381-94486381 9:91724099-91724099
31 ROR2 NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln)SNV Conflicting interpretations of pathogenicity 499909 rs142215888 9:94487193-94487193 9:91724911-91724911
32 ROR2 NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)SNV Conflicting interpretations of pathogenicity 281429 rs150610444 9:94487040-94487040 9:91724758-91724758
33 ROR2 NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu)SNV Conflicting interpretations of pathogenicity 282760 rs56099091 9:94487106-94487106 9:91724824-91724824
34 ROR2 NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)SNV Conflicting interpretations of pathogenicity 284609 rs142386294 9:94487020-94487020 9:91724738-91724738
35 ROR2 NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly)SNV Conflicting interpretations of pathogenicity 287327 rs149826387 9:94486092-94486092 9:91723810-91723810
36 ROR2 NM_004560.4(ROR2):c.2190C>T (p.Asn730=)SNV Conflicting interpretations of pathogenicity 367499 rs372509332 9:94486586-94486586 9:91724304-91724304
37 ROR2 NM_004560.4(ROR2):c.1491G>A (p.Pro497=)SNV Conflicting interpretations of pathogenicity 367504 rs146347005 9:94487285-94487285 9:91725003-91725003
38 ROR2 NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln)SNV Conflicting interpretations of pathogenicity 367505 rs767474960 9:94487328-94487328 9:91725046-91725046
39 ROR2 NM_004560.4(ROR2):c.568A>G (p.Thr190Ala)SNV Conflicting interpretations of pathogenicity 288137 rs34574788 9:94499727-94499727 9:91737445-91737445
40 ROR2 NM_004560.4(ROR2):c.1184-10T>CSNV Conflicting interpretations of pathogenicity 367509 rs184670366 9:94489035-94489035 9:91726753-91726753
41 ROR2 NM_004560.4(ROR2):c.1307C>T (p.Ala436Val)SNV Conflicting interpretations of pathogenicity 367507 rs149842671 9:94488902-94488902 9:91726620-91726620
42 ROR2 NM_004560.4(ROR2):c.864G>A (p.Ala288=)SNV Conflicting interpretations of pathogenicity 367511 rs142926399 9:94495477-94495477 9:91733195-91733195
43 ROR2 NM_004560.4(ROR2):c.2649G>A (p.Met883Ile)SNV Conflicting interpretations of pathogenicity 367495 rs373037095 9:94486127-94486127 9:91723845-91723845
44 ROR2 NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)SNV Conflicting interpretations of pathogenicity 367498 rs56231927 9:94486564-94486564 9:91724282-91724282
45 ROR2 NM_004560.4(ROR2):c.1416G>A (p.Ala472=)SNV Conflicting interpretations of pathogenicity 367506 rs201064212 9:94487360-94487360 9:91725078-91725078
46 ROR2 NM_004560.4(ROR2):c.*520C>TSNV Conflicting interpretations of pathogenicity 367488 rs367760102 9:94485424-94485424 9:91723142-91723142
47 ROR2 NM_004560.4(ROR2):c.2277G>A (p.Ala759=)SNV Conflicting interpretations of pathogenicity 367497 rs369491865 9:94486499-94486499 9:91724217-91724217
48 ROR2 NM_004560.4(ROR2):c.1720G>T (p.Val574Leu)SNV Conflicting interpretations of pathogenicity 367501 rs140579674 9:94487056-94487056 9:91724774-91724774
49 ROR2 NM_004560.4(ROR2):c.-121A>CSNV Conflicting interpretations of pathogenicity 367523 rs555789981 9:94712366-94712366 9:91950084-91950084
50 ROR2 NM_004560.4(ROR2):c.153C>T (p.Asp51=)SNV Conflicting interpretations of pathogenicity 367518 rs572950289 9:94538045-94538045 9:91775763-91775763

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

73
# Symbol AA change Variation ID SNP ID
1 ROR2 p.Arg184Cys VAR_010768 rs121909084
2 ROR2 p.Arg189Trp VAR_010769 rs199975149
3 ROR2 p.Arg366Trp VAR_010770
4 ROR2 p.Asn620Lys VAR_010771
5 ROR2 p.Cys182Tyr VAR_010911

Expression for Robinow Syndrome, Autosomal Recessive 1

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

Pathways for Robinow Syndrome, Autosomal Recessive 1

Pathways related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 RARS2 RARS1 MARS1 KARS1 H2AC18 ERCC6
2
Show member pathways
11.47 RARS2 RARS1 MARS1 KARS1 EPRS1 EEF1E1
3
Show member pathways
11.4 XPA ERCC8 ERCC6

GO Terms for Robinow Syndrome, Autosomal Recessive 1

Cellular components related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10 XPA SRR ROR2 RARS2 RARS1 NXN
2 nucleus GO:0005634 9.8 XPA RRS1 RARS1 PRICKLE4 NXN MARS1
3 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 9.17 RARS1 MARS1 KARS1 EPRS1 EEF1E1 AIMP2

Biological processes related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.72 XPA ERCC8 ERCC6
2 transcription-coupled nucleotide-excision repair GO:0006283 9.56 XPA UVSSA ERCC8 ERCC6
3 translation GO:0006412 9.56 RARS2 RARS1 MARS1 KARS1 EPRS1 EEF1E1
4 positive regulation of macrophage activation GO:0043032 9.54 WNT5A KARS1
5 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.52 XPA ERCC6
6 response to auditory stimulus GO:0010996 9.51 XPA ERCC8
7 response to X-ray GO:0010165 9.5 KARS1 ERCC8 ERCC6
8 single strand break repair GO:0000012 9.49 ERCC8 ERCC6
9 positive regulation of cytokine production involved in immune response GO:0002720 9.48 WNT5A KARS1
10 positive regulation of cytokine secretion involved in immune response GO:0002741 9.46 WNT5A KARS1
11 response to UV GO:0009411 9.46 XPA UVSSA ERCC8 ERCC6
12 positive regulation of protein kinase C activity GO:1900020 9.43 WNT5A ROR2
13 double-strand break repair via classical nonhomologous end joining GO:0097680 9.4 ERCC8 ERCC6
14 arginyl-tRNA aminoacylation GO:0006420 9.37 RARS2 RARS1
15 tRNA aminoacylation for protein translation GO:0006418 9.23 RARS2 RARS1 MARS1 KARS1 EPRS1 EEF1E1

Molecular functions related to Robinow Syndrome, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.97 SRR ROR2 RARS2 RARS1 MARS1 KARS1
2 ATP binding GO:0005524 9.92 SRR ROR2 RARS2 RARS1 MARS1 KARS1
3 protein homodimerization activity GO:0042803 9.8 XPA SRR KARS1 EPRS1 AIMP1
4 tRNA binding GO:0000049 9.46 RARS1 MARS1 KARS1 AIMP1
5 ligase activity GO:0016874 9.35 RARS2 RARS1 MARS1 KARS1 EPRS1
6 arginine-tRNA ligase activity GO:0004814 9.26 RARS2 RARS1
7 aminoacyl-tRNA ligase activity GO:0004812 9.02 RARS2 RARS1 MARS1 KARS1 EPRS1

Sources for Robinow Syndrome, Autosomal Recessive 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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36 KEGG
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43 MeSH
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50 NDF-RT
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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