MCID: SHR044
MIFTS: 49

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 58 36
Short Rib Polydactyly Syndrome 29 6

Characteristics:

Orphanet epidemiological data:

58
short rib-polydactyly syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare respiratory diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short Rib-Polydactyly Syndrome

KEGG : 36 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 7 with or without polydactyly and short-rib thoracic dysplasia 8 with or without polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome is WDR35 (WD Repeat Domain 35), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and frontal bossing

Wikipedia : 74 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 88)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 7 with or without polydactyly 33.7 WDR60 WDR35 TTC21B
2 short-rib thoracic dysplasia 8 with or without polydactyly 32.6 WDR60 WDR34 DYNC2LI1 DYNC2H1
3 short-rib thoracic dysplasia 4 with or without polydactyly 32.5 WDR60 WDR35 TTC21B
4 short-rib thoracic dysplasia 2 with or without polydactyly 32.5 TTC21B DYNC2H1
5 short-rib thoracic dysplasia 11 with or without polydactyly 31.9 WDR60 WDR34 DYNC2LI1 DYNC2H1
6 short-rib thoracic dysplasia 5 with or without polydactyly 31.8 WDR35 TTC21B IFT43
7 short-rib thoracic dysplasia 9 with or without polydactyly 31.8 WDR35 TTC21B IFT43
8 short-rib thoracic dysplasia 6 with or without polydactyly 31.3 WDR60 WDR35 WDR34 TTC21B NEK1 IFT43
9 short-rib thoracic dysplasia 12 30.6 WDR60 WDR35 WDR34 TTC21B NEK1 IFT52
10 short-rib thoracic dysplasia 3 with or without polydactyly 30.1 WDR60 WDR35 WDR34 TTC21B NEK1 IFT81
11 short-rib thoracic dysplasia 1 with or without polydactyly 29.8 WDR60 WDR35 WDR34 TTC21B NEK1 IFT43
12 ciliopathy 29.2 TTC21B IFT81 IFT52 DYNC2LI1
13 retinal degeneration 28.7 TTC21B IFT52 IFT43
14 polydactyly 27.6 WDR60 WDR35 WDR34 TTC21B NEK1 IFT81
15 joubert syndrome 1 27.1 WDR35 TTC21B NEK1 IFT81 IFT52 IFT43
16 cranioectodermal dysplasia 1 26.8 WDR60 WDR35 WDR34 TTC21B NEK1 IFT52
17 asphyxiating thoracic dystrophy 26.6 WDR60 WDR35 WDR34 TTC21B NEK1 IFT81
18 ellis-van creveld syndrome 26.6 WDR60 WDR35 WDR34 TTC21B NEK1 IFT81
19 short-rib thoracic dysplasia 10 with or without polydactyly 12.5
20 short-rib thoracic dysplasia 17 with or without polydactyly 11.9
21 short-rib thoracic dysplasia 14 with polydactyly 11.9
22 short-rib thoracic dysplasia 15 with polydactyly 11.9
23 short-rib thoracic dysplasia 16 with or without polydactyly 11.9
24 short-rib thoracic dysplasia 18 with polydactyly 11.9
25 short-rib thoracic dysplasia 19 with or without polydactyly 11.9
26 short-rib thoracic dysplasia 20 with polydactyly 11.6
27 atelosteogenesis, type i 11.4
28 boomerang dysplasia 11.4
29 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
30 skeletal dysplasias 10.8
31 dwarfism 10.6
32 noonan syndrome 1 10.6
33 polydactyly, postaxial, type a1 10.6
34 pseudo-turner syndrome 10.6
35 situs inversus 10.5
36 cleft palate, isolated 10.5
37 oligohydramnios 10.4
38 cleft lip 10.4
39 chromosome 2q35 duplication syndrome 10.3
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
41 autosomal recessive disease 10.3
42 microcephaly 10.3
43 cystic lymphangioma 10.3
44 renal dysplasia 10.3
45 coarctation of aorta 10.2
46 odontochondrodysplasia 10.2
47 triiodothyronine receptor auxiliary protein 10.2
48 renal hypodysplasia/aplasia 1 10.2
49 anencephaly 10.2
50 arachnoid cysts, intracranial 10.2

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:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 dolichocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000268
7 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
9 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
10 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
11 hypoplastic left heart 58 31 hallmark (90%) Very frequent (99-80%) HP:0004383
12 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
13 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
14 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
15 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
16 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
17 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
18 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
19 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
20 abdominal situs inversus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003363
21 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
22 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
23 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
24 intestinal hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005245
25 abnormal soft palate morphology 31 hallmark (90%) HP:0100736
26 displacement of the urethral meatus 31 hallmark (90%) HP:0100627
27 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
28 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
29 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
30 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
31 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
32 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
33 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
34 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
35 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
36 abnormality of female internal genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000008
37 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
38 intestinal malrotation 58 31 frequent (33%) Frequent (79-30%) HP:0002566
39 abnormality of pelvic girdle bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002644
40 aplasia/hypoplasia of the lungs 58 31 frequent (33%) Frequent (79-30%) HP:0006703
41 abnormality of the clavicle 58 31 frequent (33%) Frequent (79-30%) HP:0000889
42 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
43 transposition of the great arteries 58 31 frequent (33%) Frequent (79-30%) HP:0001669
44 duodenal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0100867
45 calvarial skull defect 31 frequent (33%) HP:0001362
46 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
47 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
48 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
49 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
50 male pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000037

MGI Mouse Phenotypes related to Short Rib-Polydactyly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 DYNC2H1 DYNC2LI1 IFT43 IFT81 WDR35 WDR60
2 embryo MP:0005380 9.43 DYNC2H1 DYNC2LI1 IFT43 TTC21B WDR35 WDR60
3 mortality/aging MP:0010768 9.23 DYNC2H1 DYNC2LI1 IFT43 IFT52 IFT81 NEK1

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

Genetic tests related to Short Rib-Polydactyly Syndrome:

# Genetic test Affiliating Genes
1 Short Rib Polydactyly Syndrome 29

Anatomical Context for Short Rib-Polydactyly Syndrome

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

40
Bone, Kidney, Heart, Liver, Lung, Pancreas, Brain

Publications for Short Rib-Polydactyly Syndrome

Articles related to Short Rib-Polydactyly Syndrome:

(show top 50) (show all 138)
# Title Authors PMID Year
1
Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. 61
31609148 2019
2
Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy. 61
30375052 2019
3
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. 61
30790652 2019
4
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. 61
29982567 2018
5
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 61
29635032 2018
6
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]. 61
30122595 2018
7
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. 61
29359448 2018
8
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. 61
29458881 2018
9
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 61
29271569 2018
10
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 61
28870638 2017
11
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. 61
29241935 2017
12
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 61
28400947 2017
13
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 61
27466190 2016
14
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 61
27666822 2016
15
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. 61
27466187 2016
16
Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. 61
26970085 2016
17
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. 61
27323140 2016
18
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 61
26691894 2016
19
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 61
26386044 2015
20
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 61
26166481 2015
21
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. 61
25410398 2015
22
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. 61
25982780 2015
23
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 61
26077881 2015
24
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome. 61
26078906 2015
25
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. 61
25830415 2015
26
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 61
24854045 2014
27
Clinical genetics and pathobiology of ciliary chondrodysplasias. 61
25506500 2014
28
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 61
24183449 2013
29
Recurrent short rib polydactyly syndrome. 61
23259870 2013
30
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 61
23276573 2012
31
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. 61
22795106 2012
32
Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. 61
22105337 2012
33
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. 61
22482978 2012
34
A short rib polydactyly syndrome overlapping both lethal and nonlethal types. 61
22876582 2012
35
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. 61
21159031 2011
36
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 61
21211617 2011
37
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 61
20607029 2010
38
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. 61
19475553 2009
39
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 61
19442771 2009
40
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 61
19361615 2009
41
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 61
19522446 2009
42
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 61
18383484 2008
43
Syndromes, disorders and maternal risk factors associated with neural tube defects (I). 61
18400576 2008
44
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. 61
17935248 2007
45
Short rib polydactyly syndrome - type 2 (Majewski). 61
18057685 2007
46
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 61
17535085 2007
47
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. 61
17058284 2006
48
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. 61
16719409 2006
49
Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. 61
16619378 2006
50
Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. 61
16479085 2006

Variations for Short Rib-Polydactyly Syndrome

ClinVar genetic disease variations for Short Rib-Polydactyly Syndrome:

6 (show top 50) (show all 340) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR35 NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter)SNV Pathogenic 617914 rs1050086118 2:20146310-20146310 2:19946549-19946549
2 IFT43 NM_052873.3(IFT43):c.2T>A (p.Met1Lys)SNV Pathogenic/Likely pathogenic 488649 rs769724508 14:76452131-76452131 14:75985788-75985788
3 IFT52 NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)SNV Pathogenic/Likely pathogenic 253307 rs886037869 20:42242599-42242599 20:43613959-43613959
4 IFT52 NM_016004.5(IFT52):c.878del (p.Leu293fs)deletion Pathogenic/Likely pathogenic 253308 rs886037870 20:42252640-42252640 20:43624000-43624000
5 WDR35 NM_020779.4(WDR35):c.1468del (p.Gln490fs)deletion Likely pathogenic 289210 rs886044119 2:20151178-20151178 2:19951417-19951417
6 IFT43 NM_052873.3(IFT43):c.535T>C (p.Trp179Arg)SNV Likely pathogenic 488650 rs1555369050 14:76549813-76549813 14:76083470-76083470
7 INTU NM_015693.4(INTU):c.1063G>T (p.Glu355Ter)SNV Likely pathogenic 504481 rs1037828930 4:128590281-128590281 4:127669126-127669126
8 INTU NM_015693.4(INTU):c.1499A>C (p.Glu500Ala)SNV Likely pathogenic 504482 rs1360128571 4:128621214-128621214 4:127700059-127700059
9 FLVCR1 NM_014053.4(FLVCR1):c.785A>C (p.Asn262Thr)SNV Likely pathogenic 617856 rs547679833 1:213037113-213037113 1:212863771-212863771
10 CILK1 NM_014920.4(CILK1):c.238G>A (p.Glu80Lys)SNV Likely pathogenic 617858 rs868310475 6:52897371-52897371 6:53032573-53032573
11 WDR35 NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys)SNV Likely pathogenic 617905 rs1558342399 2:20153595-20153595 2:19953834-19953834
12 DYNC2H1 NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)duplication Likely pathogenic 667370 11:103024190-103024191 11:103153461-103153462
13 WDR35 NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)SNV Likely pathogenic 446644 rs200649783 2:20169317-20169317 2:19969556-19969556
14 DYNC2H1 NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)SNV Conflicting interpretations of pathogenicity 302055 rs199675558 11:103055705-103055705 11:103184976-103184976
15 DYNC2H1 NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)SNV Conflicting interpretations of pathogenicity 302028 rs118191062 11:103026146-103026146 11:103155417-103155417
16 DYNC2H1 NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=)SNV Conflicting interpretations of pathogenicity 302111 rs777253444 11:103182691-103182691 11:103311962-103311962
17 WDR35 NM_020779.4(WDR35):c.2220C>T (p.Phe740=)SNV Conflicting interpretations of pathogenicity 333384 rs535522970 2:20137551-20137551 2:19937790-19937790
18 WDR35 NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)SNV Conflicting interpretations of pathogenicity 333393 rs148242353 2:20146265-20146265 2:19946504-19946504
19 WDR35 NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)SNV Conflicting interpretations of pathogenicity 333397 rs76623454 2:20166621-20166621 2:19966860-19966860
20 WDR35 NM_020779.4(WDR35):c.215-4C>GSNV Conflicting interpretations of pathogenicity 333406 rs369080910 2:20180548-20180548 2:19980787-19980787
21 DYNC2H1 NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)SNV Conflicting interpretations of pathogenicity 6503 rs137853027 11:103091449-103091449 11:103220720-103220720
22 NEK1 NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr)SNV Conflicting interpretations of pathogenicity 266046 rs189186475 4:170483347-170483347 4:169562196-169562196
23 DYNC2H1 NM_001377.3(DYNC2H1):c.12366+8A>GSNV Conflicting interpretations of pathogenicity 279579 rs200404815 11:103270608-103270608 11:103399880-103399880
24 WDR35 NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)SNV Conflicting interpretations of pathogenicity 281109 rs140308808 2:20178593-20178593 2:19978832-19978832
25 NEK1 NM_012224.3(NEK1):c.3327G>A (p.Leu1109=)SNV Conflicting interpretations of pathogenicity 283367 rs56077602 4:170322975-170322975 4:169401824-169401824
26 WDR35 NM_020779.4(WDR35):c.3121+3G>ASNV Conflicting interpretations of pathogenicity 283797 rs200042577 2:20130154-20130154 2:19930393-19930393
27 DYNC2H1 NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)SNV Conflicting interpretations of pathogenicity 167010 rs150887098 11:103046984-103046984 11:103176255-103176255
28 WDR35 NM_020779.4(WDR35):c.1195-1693A>GSNV Conflicting interpretations of pathogenicity 167847 rs144673252 2:20162068-20162068 2:19962307-19962307
29 DYNC2H1 NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)SNV Conflicting interpretations of pathogenicity 193155 rs373977008 11:102980336-102980336 11:103109607-103109607
30 DYNC2H1 NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu)SNV Conflicting interpretations of pathogenicity 194349 rs189533535 11:103004335-103004335 11:103133606-103133606
31 WDR35 NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)SNV Conflicting interpretations of pathogenicity 195803 rs75602337 2:20132090-20132090 2:19932329-19932329
32 DYNC2H1 NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)SNV Conflicting interpretations of pathogenicity 196010 rs371259464 11:103029470-103029470 11:103158741-103158741
33 DYNC2H1 NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)SNV Conflicting interpretations of pathogenicity 198331 rs140830294 11:103107198-103107198 11:103236469-103236469
34 WDR35 NM_020779.4(WDR35):c.770T>C (p.Val257Ala)SNV Conflicting interpretations of pathogenicity 198758 rs142955097 2:20173436-20173436 2:19973675-19973675
35 DYNC2H1 NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)SNV Conflicting interpretations of pathogenicity 215483 rs180787556 11:103093759-103093759 11:103223030-103223030
36 DYNC2H1 NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr)SNV Conflicting interpretations of pathogenicity 215482 rs61737514 11:103194686-103194686 11:103323958-103323958
37 WDR35 NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)SNV Conflicting interpretations of pathogenicity 333369 rs148436608 2:20113881-20113881 2:19914120-19914120
38 WDR35 NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)SNV Conflicting interpretations of pathogenicity 333377 rs151047156 2:20132189-20132189 2:19932428-19932428
39 WDR35 NM_020779.4(WDR35):c.2965-4G>TSNV Conflicting interpretations of pathogenicity 333374 rs199696980 2:20130317-20130317 2:19930556-19930556
40 WDR35 NM_020779.4(WDR35):c.1089G>A (p.Thr363=)SNV Conflicting interpretations of pathogenicity 333396 rs79829477 2:20166590-20166590 2:19966829-19966829
41 WDR35 NM_020779.4(WDR35):c.2262C>T (p.Asp754=)SNV Conflicting interpretations of pathogenicity 333383 rs147206032 2:20137509-20137509 2:19937748-19937748
42 WDR35 NM_020779.4(WDR35):c.765C>T (p.Tyr255=)SNV Conflicting interpretations of pathogenicity 333403 rs117255034 2:20173441-20173441 2:19973680-19973680
43 NEK1 NM_012224.3(NEK1):c.3538G>A (p.Asp1180Asn)SNV Conflicting interpretations of pathogenicity 348090 rs35503975 4:170321764-170321764 4:169400613-169400613
44 NEK1 NM_012224.3(NEK1):c.1581T>C (p.Ala527=)SNV Conflicting interpretations of pathogenicity 348112 rs184804243 4:170459044-170459044 4:169537893-169537893
45 NEK1 NM_012224.3(NEK1):c.2337C>T (p.Phe779=)SNV Conflicting interpretations of pathogenicity 348103 rs56346829 4:170398288-170398288 4:169477137-169477137
46 NEK1 NM_012224.3(NEK1):c.1500T>C (p.Ala500=)SNV Conflicting interpretations of pathogenicity 348113 rs776664093 4:170476933-170476933 4:169555782-169555782
47 NEK1 NM_012224.3(NEK1):c.686A>G (p.Tyr229Cys)SNV Conflicting interpretations of pathogenicity 348120 rs61737748 4:170506621-170506621 4:169585470-169585470
48 NEK1 NM_012224.3(NEK1):c.3540T>C (p.Asp1180=)SNV Conflicting interpretations of pathogenicity 348089 rs55740606 4:170321762-170321762 4:169400611-169400611
49 NEK1 NM_012224.3(NEK1):c.3499+8A>CSNV Conflicting interpretations of pathogenicity 348091 rs192372022 4:170322795-170322795 4:169401644-169401644
50 NEK1 NM_012224.3(NEK1):c.3483C>T (p.Asn1161=)SNV Conflicting interpretations of pathogenicity 348092 rs200710438 4:170322819-170322819 4:169401668-169401668

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
12.34 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52
2
Show member pathways
12 WDR35 TTC21B IFT52 DYNC2H1
3 10.9 DYNC2LI1 DYNC2H1
4 10.89 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52

GO Terms for Short Rib-Polydactyly Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10 WDR35 WDR34 TTC21B NEK1 IFT43 DYNC2LI1
2 centrosome GO:0005813 9.88 WDR60 WDR35 NEK1 IFT81 IFT52 DYNC2LI1
3 cell projection GO:0042995 9.81 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52
4 microtubule organizing center GO:0005815 9.8 WDR35 NEK1 IFT43 DYNC2LI1
5 motile cilium GO:0031514 9.78 IFT81 IFT52 DYNC2LI1 DYNC2H1
6 axoneme GO:0005930 9.73 WDR35 WDR34 DYNC2LI1 DYNC2H1
7 ciliary basal body GO:0036064 9.72 WDR35 WDR34 IFT81 IFT52 DYNC2LI1
8 cilium GO:0005929 9.61 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52
9 cytoplasmic dynein complex GO:0005868 9.56 WDR60 WDR34 DYNC2LI1 DYNC2H1
10 dynein complex GO:0030286 9.55 DYNC2LI1 DYNC2H1
11 ciliary base GO:0097546 9.54 WDR60 IFT52
12 intraciliary transport particle A GO:0030991 9.54 WDR35 TTC21B IFT43
13 intraciliary transport particle B GO:0030992 9.52 IFT81 IFT52
14 pericentriolar material GO:0000242 9.51 WDR60 NEK1
15 ciliary tip GO:0097542 9.28 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 WDR60 WDR35 NEK1 IFT81 IFT52 IFT43
2 intraciliary retrograde transport GO:0035721 9.65 WDR35 TTC21B IFT43 DYNC2LI1 DYNC2H1
3 intraciliary transport GO:0042073 9.62 WDR35 WDR34 IFT81 IFT52
4 microtubule-based movement GO:0007018 9.61 WDR60 WDR34 DYNC2H1
5 cilium assembly GO:0060271 9.61 WDR60 WDR35 WDR34 NEK1 IFT81 IFT52
6 determination of left/right symmetry GO:0007368 9.58 IFT52 DYNC2LI1 DYNC2H1
7 protein localization to cilium GO:0061512 9.54 WDR35 TTC21B DYNC2H1
8 smoothened signaling pathway GO:0007224 9.51 TTC21B IFT52
9 non-motile cilium assembly GO:1905515 9.49 IFT52 DYNC2H1
10 dorsal/ventral pattern formation GO:0009953 9.48 IFT52 DYNC2H1
11 regulation of smoothened signaling pathway GO:0008589 9.46 TTC21B IFT81
12 intraciliary transport involved in cilium assembly GO:0035735 9.28 WDR60 WDR35 WDR34 TTC21B IFT81 IFT52

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 WDR60 WDR34
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2LI1 DYNC2H1
3 dynein light chain binding GO:0045503 8.96 WDR60 WDR34
4 dynein heavy chain binding GO:0045504 8.8 WDR60 WDR34 DYNC2LI1

Sources for Short Rib-Polydactyly Syndrome

3 CDC
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11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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