MCID: SHR044
MIFTS: 44

Short Rib-Polydactyly Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short Rib-Polydactyly Syndrome

MalaCards integrated aliases for Short Rib-Polydactyly Syndrome:

Name: Short Rib-Polydactyly Syndrome 59 37
Short Rib Polydactyly Syndrome 6

Characteristics:

Orphanet epidemiological data:

59
short rib-polydactyly syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

KEGG 37 H00511
MESH via Orphanet 45 D012779
ICD10 via Orphanet 34 Q77.2
UMLS via Orphanet 73 C0036996
Orphanet 59 ORPHA1505

Summaries for Short Rib-Polydactyly Syndrome

KEGG : 37
Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate.

MalaCards based summary : Short Rib-Polydactyly Syndrome, also known as short rib polydactyly syndrome, is related to short-rib thoracic dysplasia 12 and short-rib thoracic dysplasia 6 with or without polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome is IFT52 (Intraflagellar Transport 52), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, heart and kidney, and related phenotypes are hypertelorism and frontal bossing

Wikipedia : 75 Short rib - polydactyly syndrome is a family of four closely related... more...

Related Diseases for Short Rib-Polydactyly Syndrome

Diseases related to Short Rib-Polydactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 12 33.2 TTC21B NEK1
2 short-rib thoracic dysplasia 6 with or without polydactyly 32.5 TTC21B NEK1 DYNC2H1
3 short-rib thoracic dysplasia 3 with or without polydactyly 32.3 WDR35 TTC21B NEK1 DYNC2H1
4 short-rib thoracic dysplasia 1 with or without polydactyly 31.0 WDR35 TTC21B DYNC2H1
5 asphyxiating thoracic dystrophy 29.4 WDR35 TTC21B DYNC2H1
6 cranioectodermal dysplasia 1 28.7 WDR35 TTC21B IFT52 DYNC2H1
7 polydactyly 28.4 WDR35 TTC21B NEK1 IFT81 IFT52 DYNC2H1
8 ellis-van creveld syndrome 28.1 WDR35 TTC21B NEK1 IFT81 DYNC2H1
9 short rib-polydactyly syndrome, majewski type 12.9
10 short-rib thoracic dysplasia 7 with or without polydactyly 12.6
11 short-rib thoracic dysplasia 10 with or without polydactyly 12.5
12 short-rib thoracic dysplasia 8 with or without polydactyly 12.3
13 short-rib thoracic dysplasia 4 with or without polydactyly 11.9
14 short-rib thoracic dysplasia 17 with or without polydactyly 11.9
15 short-rib thoracic dysplasia 11 with or without polydactyly 11.9
16 short-rib thoracic dysplasia 14 with polydactyly 11.9
17 short-rib thoracic dysplasia 15 with polydactyly 11.9
18 short-rib thoracic dysplasia 16 with or without polydactyly 11.9
19 short-rib thoracic dysplasia 18 with polydactyly 11.9
20 short-rib thoracic dysplasia 19 with or without polydactyly 11.9
21 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
22 short-rib thoracic dysplasia 2 with or without polydactyly 11.6
23 short-rib thoracic dysplasia 5 with or without polydactyly 11.6
24 short-rib thoracic dysplasia 20 with polydactyly 11.6
25 atelosteogenesis, type i 11.4
26 boomerang dysplasia 11.4
27 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
28 skeletal dysplasias 10.8
29 dwarfism 10.6
30 noonan syndrome 1 10.6
31 polydactyly, postaxial, type a1 10.6
32 pseudo-turner syndrome 10.6
33 situs inversus 10.5
34 cleft palate, isolated 10.5
35 oligohydramnios 10.4
36 cleft lip 10.4
37 ciliopathy 10.4
38 chromosome 2q35 duplication syndrome 10.3
39 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
40 autosomal recessive disease 10.3
41 cystic lymphangioma 10.3
42 microcephaly 10.3
43 renal dysplasia 10.3
44 coarctation of aorta 10.1
45 odontochondrodysplasia 10.1
46 triiodothyronine receptor auxiliary protein 10.1
47 renal hypodysplasia/aplasia 1 10.1
48 anencephaly 10.1
49 joubert syndrome 1 10.1
50 conotruncal heart malformations 10.1

Graphical network of the top 20 diseases related to Short Rib-Polydactyly Syndrome:



Diseases related to Short Rib-Polydactyly Syndrome

Symptoms & Phenotypes for Short Rib-Polydactyly Syndrome

Human phenotypes related to Short Rib-Polydactyly Syndrome:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
4 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
5 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
6 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
7 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
8 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
9 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
10 hypoplastic left heart 59 32 hallmark (90%) Very frequent (99-80%) HP:0004383
11 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100
12 non-midline cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0100335
13 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
14 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
15 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
16 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
17 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
18 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
19 preaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001177
20 abdominal situs inversus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003363
21 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
22 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
23 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
24 intestinal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005245
25 abnormal soft palate morphology 32 hallmark (90%) HP:0100736
26 displacement of the urethral meatus 32 hallmark (90%) HP:0100627
27 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
28 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
29 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
30 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
31 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
32 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
33 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
34 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
35 abnormality of female internal genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000008
36 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
37 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
38 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
39 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
40 aplasia/hypoplasia of the lungs 59 32 frequent (33%) Frequent (79-30%) HP:0006703
41 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
42 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
43 transposition of the great arteries 59 32 frequent (33%) Frequent (79-30%) HP:0001669
44 duodenal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0100867
45 calvarial skull defect 32 frequent (33%) HP:0001362
46 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
47 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
48 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
49 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
50 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000037

MGI Mouse Phenotypes related to Short Rib-Polydactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 8.92 DYNC2H1 NEK1 TTC21B WDR35

Drugs & Therapeutics for Short Rib-Polydactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Short Rib-Polydactyly Syndrome

Genetic Tests for Short Rib-Polydactyly Syndrome

Anatomical Context for Short Rib-Polydactyly Syndrome

MalaCards organs/tissues related to Short Rib-Polydactyly Syndrome:

41
Bone, Heart, Kidney, Lung, Pancreas, Liver, Brain

Publications for Short Rib-Polydactyly Syndrome

Articles related to Short Rib-Polydactyly Syndrome:

(show top 50) (show all 137)
# Title Authors PMID Year
1
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. 38
30790652 2019
2
Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy. 38
30375052 2018
3
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. 38
29982567 2018
4
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 38
29635032 2018
5
Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]. 38
30122595 2018
6
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. 38
29359448 2018
7
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 38
29458881 2018
8
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 38
29271569 2018
9
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 38
28870638 2017
10
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. 38
29241935 2017
11
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 38
28400947 2017
12
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 38
27466190 2016
13
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 38
27666822 2016
14
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. 38
27466187 2016
15
Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. 38
26970085 2016
16
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. 38
27323140 2016
17
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 38
26691894 2016
18
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 38
26386044 2015
19
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 38
26166481 2015
20
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. 38
25410398 2015
21
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. 38
25982780 2015
22
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 38
26077881 2015
23
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome. 38
26078906 2015
24
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. 38
25830415 2015
25
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 38
24854045 2014
26
Clinical genetics and pathobiology of ciliary chondrodysplasias. 38
25506500 2014
27
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 38
24183449 2013
28
Recurrent short rib polydactyly syndrome. 38
23259870 2013
29
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 38
23276573 2012
30
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene. 38
22795106 2012
31
Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. 38
22105337 2012
32
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. 38
22482978 2012
33
A short rib polydactyly syndrome overlapping both lethal and nonlethal types. 38
22876582 2012
34
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. 38
21159031 2011
35
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 38
21211617 2011
36
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 38
20607029 2010
37
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. 38
19475553 2009
38
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 38
19442771 2009
39
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 38
19361615 2009
40
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 38
19522446 2009
41
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 38
18383484 2008
42
Syndromes, disorders and maternal risk factors associated with neural tube defects (I). 38
18400576 2008
43
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. 38
17935248 2007
44
Short rib polydactyly syndrome - type 2 (Majewski). 38
18057685 2007
45
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 38
17535085 2007
46
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. 38
17058284 2006
47
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. 38
16719409 2006
48
Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. 38
16619378 2006
49
Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. 38
16479085 2006
50
Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family. 38
16912486 2006

Variations for Short Rib-Polydactyly Syndrome

ClinVar genetic disease variations for Short Rib-Polydactyly Syndrome:

6 (show top 50) (show all 331)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFT52 NM_016004.5(IFT52): c.595G> A (p.Ala199Thr) single nucleotide variant Pathogenic/Likely pathogenic rs886037869 20:42242599-42242599 20:43613959-43613959
2 IFT52 NM_016004.5(IFT52): c.878del (p.Leu293fs) deletion Pathogenic/Likely pathogenic rs886037870 20:42252640-42252640 20:43624000-43624000
3 FLVCR1 NM_014053.4(FLVCR1): c.785A> C (p.Asn262Thr) single nucleotide variant Likely pathogenic 1:213037113-213037113 1:212863771-212863771
4 ICK NM_016513.4(ICK): c.238G> A (p.Glu80Lys) single nucleotide variant Likely pathogenic 6:52897371-52897371 6:53032573-53032573
5 DYNC2H1 NM_001080463.2(DYNC2H1): c.9749A> G (p.Gln3250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140830294 11:103107198-103107198 11:103236469-103236469
6 WDR35 NM_001006657.2(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 2:20173436-20173436 2:19973675-19973675
7 DYNC2H1 NM_001080463.2(DYNC2H1): c.9297T> C (p.Tyr3099=) single nucleotide variant Conflicting interpretations of pathogenicity rs180787556 11:103093759-103093759 11:103223030-103223030
8 DYNC2H1 NM_001080463.2(DYNC2H1): c.12028G> A (p.Ala4010Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61737514 11:103194686-103194686 11:103323958-103323958
9 NEK1 NM_001199397.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 4:170483347-170483347 4:169562196-169562196
10 WDR35 NM_001006657.2(WDR35): c.355C> T (p.Arg119Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs140308808 2:20178593-20178593 2:19978832-19978832
11 NEK1 NM_001199397.2(NEK1): c.3411G> A (p.Leu1137=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 4:170322975-170322975 4:169401824-169401824
12 WDR35 NM_001006657.2(WDR35): c.3154+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200042577 2:20130154-20130154 2:19930393-19930393
13 DYNC2H1 NM_001080463.2(DYNC2H1): c.9044A> G (p.Asp3015Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs137853027 11:103091449-103091449 11:103220720-103220720
14 WDR35 NM_001006657.2(WDR35): c.1058G> C (p.Arg353Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs76623454 2:20166621-20166621 2:19966860-19966860
15 NEK1 NM_001199397.2(NEK1): c.3622G> A (p.Asp1208Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs35503975 4:170321764-170321764 4:169400613-169400613
16 NEK1 NM_001199397.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 4:170459044-170459044 4:169537893-169537893
17 NEK1 NM_001199397.2(NEK1): c.2421C> T (p.Phe807=) single nucleotide variant Conflicting interpretations of pathogenicity rs56346829 4:170398288-170398288 4:169477137-169477137
18 DYNC2H1 NM_001080463.2(DYNC2H1): c.195+7T> C single nucleotide variant Conflicting interpretations of pathogenicity rs112718117 11:102980505-102980505 11:103109776-103109776
19 DYNC2H1 NM_001080463.2(DYNC2H1): c.3735C> T (p.Ala1245=) single nucleotide variant Conflicting interpretations of pathogenicity rs377584612 11:103026221-103026221 11:103155492-103155492
20 DYNC2H1 NM_001080463.2(DYNC2H1): c.9886G> C (p.Glu3296Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200326353 11:103114467-103114467 11:103243738-103243738
21 DYNC2H1 NM_001080463.2(DYNC2H1): c.9960T> C (p.Ala3320=) single nucleotide variant Conflicting interpretations of pathogenicity rs192003811 11:103116000-103116000 11:103245271-103245271
22 DYNC2H1 NM_001080463.2(DYNC2H1): c.10866G> A (p.Pro3622=) single nucleotide variant Conflicting interpretations of pathogenicity rs187451323 11:103153769-103153769 11:103283040-103283040
23 DYNC2H1 NM_001080463.2(DYNC2H1): c.11259C> T (p.Ser3753=) single nucleotide variant Conflicting interpretations of pathogenicity rs78599571 11:103173964-103173964 11:103303235-103303235
24 DYNC2H1 NM_001080463.2(DYNC2H1): c.12275G> A (p.Arg4092His) single nucleotide variant Conflicting interpretations of pathogenicity rs115480556 11:103270488-103270488 11:103399760-103399760
25 DYNC2H1 NM_001080463.2(DYNC2H1): c.3012T> C (p.Gly1004=) single nucleotide variant Conflicting interpretations of pathogenicity rs202082545 11:103022930-103022930 11:103152201-103152201
26 DYNC2H1 NM_001080463.2(DYNC2H1): c.9231+12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs369045696 11:103092894-103092894 11:103222165-103222165
27 DYNC2H1 NM_001080463.2(DYNC2H1): c.10064-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs376067770 11:103124007-103124007 11:103253278-103253278
28 DYNC2H1 NM_001080463.2(DYNC2H1): c.12886G> C (p.Gly4296Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144717489 11:103349922-103349922 11:103479194-103479194
29 DYNC2H1 NM_001080463.2(DYNC2H1): c.11724C> T (p.Asn3908=) single nucleotide variant Conflicting interpretations of pathogenicity rs144624858 11:103187327-103187327 11:103316598-103316598
30 DYNC2H1 NM_001080463.2(DYNC2H1): c.3660T> C (p.Pro1220=) single nucleotide variant Conflicting interpretations of pathogenicity rs118191062 11:103026146-103026146 11:103155417-103155417
31 DYNC2H1 NM_001080463.2(DYNC2H1): c.4497G> T (p.Trp1499Cys) single nucleotide variant Uncertain significance rs886047563 11:103033762-103033762 11:103163033-103163033
32 DYNC2H1 NM_001080463.2(DYNC2H1): c.4808T> G (p.Ile1603Ser) single nucleotide variant Uncertain significance rs541231234 11:103039529-103039529 11:103168800-103168800
33 DYNC2H1 NM_001080463.2(DYNC2H1): c.4918T> C (p.Cys1640Arg) single nucleotide variant Uncertain significance rs768540376 11:103039639-103039639 11:103168910-103168910
34 DYNC2H1 NM_001080463.2(DYNC2H1): c.5791T> A (p.Leu1931Met) single nucleotide variant Uncertain significance rs776705698 11:103047080-103047080 11:103176351-103176351
35 DYNC2H1 NM_001080463.2(DYNC2H1): c.6307T> A (p.Ser2103Thr) single nucleotide variant Uncertain significance rs201003494 11:103049922-103049922 11:103179193-103179193
36 DYNC2H1 NM_001080463.2(DYNC2H1): c.6558C> T (p.Asp2186=) single nucleotide variant Uncertain significance rs199675558 11:103055705-103055705 11:103184976-103184976
37 DYNC2H1 NM_001080463.2(DYNC2H1): c.6849T> G (p.Thr2283=) single nucleotide variant Uncertain significance rs886047565 11:103057186-103057186 11:103186457-103186457
38 DYNC2H1 NM_001080463.2(DYNC2H1): c.6931A> G (p.Thr2311Ala) single nucleotide variant Uncertain significance rs760509494 11:103058106-103058106 11:103187377-103187377
39 DYNC2H1 NM_001080463.2(DYNC2H1): c.9217T> C (p.Ser3073Pro) single nucleotide variant Uncertain significance rs199970220 11:103092868-103092868 11:103222139-103222139
40 DYNC2H1 NM_001080463.2(DYNC2H1): c.10042A> C (p.Arg3348=) single nucleotide variant Uncertain significance rs886047573 11:103116082-103116082 11:103245353-103245353
41 DYNC2H1 NM_001080463.2(DYNC2H1): c.10173T> G (p.Ala3391=) single nucleotide variant Uncertain significance rs886047574 11:103124123-103124123 11:103253394-103253394
42 DYNC2H1 NM_001080463.2(DYNC2H1): c.1320A> C (p.Glu440Asp) single nucleotide variant Uncertain significance rs760475860 11:102991725-102991725 11:103120996-103120996
43 DYNC2H1 NM_001080463.2(DYNC2H1): c.2550G> A (p.Leu850=) single nucleotide variant Uncertain significance rs375307767 11:103006653-103006653 11:103135924-103135924
44 DYNC2H1 NM_001080463.2(DYNC2H1): c.3573+5G> T single nucleotide variant Uncertain significance rs886047561 11:103025543-103025543 11:103154814-103154814
45 DYNC2H1 NM_001080463.2(DYNC2H1): c.3643C> T (p.Arg1215Cys) single nucleotide variant Uncertain significance rs746768637 11:103026129-103026129 11:103155400-103155400
46 DYNC2H1 NM_001080463.2(DYNC2H1): c.11308G> A (p.Ala3770Thr) single nucleotide variant Uncertain significance rs780426783 11:103175354-103175354 11:103304625-103304625
47 DYNC2H1 NM_001080463.2(DYNC2H1): c.11599C> A (p.Arg3867=) single nucleotide variant Uncertain significance rs777253444 11:103182691-103182691 11:103311962-103311962
48 DYNC2H1 NM_001080463.2(DYNC2H1): c.11950A> C (p.Ile3984Leu) single nucleotide variant Uncertain significance rs757571550 11:103191961-103191961 11:103321232-103321232
49 DYNC2H1 NM_001080463.2(DYNC2H1): c.12337T> G (p.Leu4113Val) single nucleotide variant Uncertain significance rs139902197 11:103270550-103270550 11:103399822-103399822
50 DYNC2H1 NM_001080463.2(DYNC2H1): c.1007C> T (p.Ala336Val) single nucleotide variant Uncertain significance rs182506343 11:102991183-102991183 11:103120454-103120454

Expression for Short Rib-Polydactyly Syndrome

Search GEO for disease gene expression data for Short Rib-Polydactyly Syndrome.

Pathways for Short Rib-Polydactyly Syndrome

Pathways related to Short Rib-Polydactyly Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 WDR35 TTC21B IFT81 IFT52 DYNC2H1
2
Show member pathways
12 WDR35 TTC21B IFT52 DYNC2H1
3 10.63 WDR35 TTC21B IFT81 IFT52 DYNC2H1

GO Terms for Short Rib-Polydactyly Syndrome

Cellular components related to Short Rib-Polydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 WDR35 TTC21B NEK1 DYNC2H1
2 centrosome GO:0005813 9.62 WDR35 NEK1 IFT81 IFT52
3 cell projection GO:0042995 9.55 WDR35 TTC21B IFT81 IFT52 DYNC2H1
4 motile cilium GO:0031514 9.54 IFT81 IFT52 DYNC2H1
5 ciliary basal body GO:0036064 9.48 WDR35 IFT81
6 axoneme GO:0005930 9.46 WDR35 DYNC2H1
7 intraciliary transport particle B GO:0030992 9.4 IFT81 IFT52
8 cilium GO:0005929 9.35 WDR35 TTC21B IFT81 IFT52 DYNC2H1
9 intraciliary transport particle A GO:0030991 9.26 WDR35 TTC21B
10 ciliary tip GO:0097542 9.02 WDR35 TTC21B IFT81 IFT52 DYNC2H1

Biological processes related to Short Rib-Polydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.55 WDR35 NEK1 IFT81 IFT52 DYNC2H1
2 protein localization to cilium GO:0061512 9.5 WDR35 TTC21B DYNC2H1
3 determination of left/right symmetry GO:0007368 9.48 IFT52 DYNC2H1
4 smoothened signaling pathway GO:0007224 9.46 TTC21B IFT52
5 non-motile cilium assembly GO:1905515 9.43 IFT52 DYNC2H1
6 intraciliary retrograde transport GO:0035721 9.43 WDR35 TTC21B DYNC2H1
7 dorsal/ventral pattern formation GO:0009953 9.4 IFT52 DYNC2H1
8 regulation of smoothened signaling pathway GO:0008589 9.37 TTC21B IFT81
9 cell projection organization GO:0030030 9.35 WDR35 NEK1 IFT81 IFT52 DYNC2H1
10 intraciliary transport involved in cilium assembly GO:0035735 9.02 WDR35 TTC21B IFT81 IFT52 DYNC2H1

Sources for Short Rib-Polydactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
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44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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