MCID: SHR069
MIFTS: 49

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 57 12 75 15
Majewski Syndrome 57 12 53 75 73
Short Rib-Polydactyly Syndrome, Majewski Type 59 29 6
Srps2a 57 12 75
Srtd6 57 12 75
Polydactyly with Neonatal Chondrodystrophy, Type Ii 57 12
Short Rib-Polydactyly Syndrome, Type Iia 57 13
Short Rib-Polydactyly Syndrome Type Iia 12 75
Short Rib-Polydactyly Syndrome Type Ii 53 75
Short Rib-Polydactyly Syndrome Type 2 53 59
Dysplasia, Thoracic, Short-Rib, Type 6 with or Without Polydactyly ) 40
Polydactyly with Neonatal Chondrodystrophy Type Ii 75
Polydactyly with Neonatal Chondrodystrophy Type 2 53
Short Rib-Polydactyly Syndrome, Type Iia; Srps2a 57
Short Rib-Polydactyly Syndrome Majewski Type 53
Short Rib-Polydactyly Syndrome, Type Ii 57
Short Rib-Polydactyly Syndrome 2a 75
Srps, Type Ii 57
Srps Type Ii 75
Srps Type 2 53

Characteristics:

Orphanet epidemiological data:

59
short rib-polydactyly syndrome, majewski type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
digenic form caused by heterozygous mutations in both nek1 and dyn2ch1


HPO:

32
short-rib thoracic dysplasia 6 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

OMIM : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (263520)

MalaCards based summary : Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to short-rib thoracic dysplasia 3 with or without polydactyly and zerres rietschel majewski syndrome. An important gene associated with Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include kidney, bone and liver, and related phenotypes are brachycephaly and cleft palate

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 6 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Prenatal Manifestations:
hydrops fetalis

Genitourinary External Genitalia Female:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
polysyndactyly

Genitourinary Kidneys:
polycystic kidneys
glomerular and renal tubular cysts

Skeletal Pelvis:
normal pelvis

Skeletal Limbs:
short long bones
disproportionate shortening of the tibia
ovoid tibia shorter than fibula
tibial agenesis (in some patients)

Abdomen Liver:
hepatic fibrosis (rare)

Head And Neck Head:
brachycephaly (in some patients)

Respiratory Larynx:
malformed larynx

Neurologic Central Nervous System:
dilation of lateral ventricles (in some patients)
pachygyria (rare)
hypoplastic cerebellar vermis (rare)
leukomalacia (rare)

Genitourinary External Genitalia Male:
ambiguous genitalia
micropenis (in some patients)

Head And Neck Mouth:
median cleft lip
cleft-palate
lingual hamartoma (in some patients)
multiple frenula (in some patients)
microglossia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles
horizontal ribs
squared scapulae

Skeletal Feet:
postaxial polydactyly
hallucal and postaxial polysyndactyly

Chest External Features:
narrow thorax

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)

Respiratory Nasopharynx:
hypoplastic epiglottis

Abdomen Gastrointestinal:
intestinal malrotation (in some patients)

Growth Height:
dwarfism, disproportionate

Skeletal:
markedly stunted and disorganized endochondral ossification


Clinical features from OMIM:

263520

Human phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 32 occasional (7.5%) HP:0000248
2 cleft palate 32 HP:0000175
3 narrow chest 32 HP:0000774
4 hydrops fetalis 32 HP:0001789
5 hepatic fibrosis 32 occasional (7.5%) HP:0001395
6 atrial septal defect 32 occasional (7.5%) HP:0001631
7 polycystic kidney dysplasia 32 HP:0000113
8 ventricular septal defect 32 occasional (7.5%) HP:0001629
9 intestinal malrotation 32 occasional (7.5%) HP:0002566
10 ambiguous genitalia 32 HP:0000062
11 pancreatic fibrosis 32 occasional (7.5%) HP:0100732
12 preaxial hand polydactyly 32 HP:0001177
13 pachygyria 32 occasional (7.5%) HP:0001302
14 postaxial hand polydactyly 32 HP:0001162
15 median cleft lip 32 HP:0000161
16 micropenis 32 occasional (7.5%) HP:0000054
17 pulmonary hypoplasia 32 HP:0002089
18 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
19 microglossia 32 occasional (7.5%) HP:0000171
20 hamartoma of tongue 32 HP:0011802
21 short ribs 32 HP:0000773
22 lateral clavicle hook 32 HP:0000895
23 dilation of lateral ventricles 32 occasional (7.5%) HP:0006956
24 hypoplasia of the epiglottis 32 HP:0005349
25 horizontal ribs 32 HP:0000888
26 disproportionate shortening of the tibia 32 HP:0005766
27 thoracic dysplasia 32 HP:0006644
28 polysyndactyly of hallux 32 HP:0005873
29 postaxial polysyndactyly of foot 32 HP:0005817

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
2 craniofacial MP:0005382 10.09 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3 mortality/aging MP:0010768 10.03 FUZ IFT122 IFT80 NEK1 PI4KA PTDSS1
4 growth/size/body region MP:0005378 10.02 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
5 limbs/digits/tail MP:0005371 10.02 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
6 embryo MP:0005380 9.95 IFT122 TCTN1 TCTN2 TRAF3IP1 TTC21B DYNC2H1
7 nervous system MP:0003631 9.81 DYNC2H1 FUZ IFT122 NEK1 PTDSS1 TCTN1
8 skeleton MP:0005390 9.56 DDHD1 DYNC2H1 EVC EVC2 FUZ IFT80
9 vision/eye MP:0005391 9.1 TRAF3IP1 DYNC2H1 FUZ IFT122 IFT80 TCTN2

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short Rib-Polydactyly Syndrome, Majewski Type 29 NEK1

Anatomical Context for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

# Title Authors Year
1
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ( 24241535 )
2014
2
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )
2014
3
TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )
2012
4
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )
2010
5
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
6
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. ( 15194948 )
2004
7
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999
8
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. ( 3608220 )
1987
9
Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. ( 6535999 )
1984

Variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

75
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Gly145Arg VAR_069617 rs431905508
2 NEK1 p.Leu253Ser VAR_069618

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly:

6
(show top 50) (show all 106)
# Gene Variation Type Significance SNP ID Assembly Location
1 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
2 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh38 Chromosome 4, 5640789: 5640789
3 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
4 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Likely pathogenic rs794726665 GRCh38 Chromosome 4, 5793722: 5793722
5 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh37 Chromosome 4, 5749953: 5749953
6 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh38 Chromosome 4, 5748226: 5748226
7 NEK1 NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 GRCh37 Chromosome 4, 170511894: 170511894
8 NEK1 NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 GRCh38 Chromosome 4, 169590743: 169590743
9 NEK1 NM_001199397.1(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 GRCh37 Chromosome 4, 170498232: 170498232
10 NEK1 NM_001199397.1(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 GRCh38 Chromosome 4, 169577081: 169577081
11 NEK1 NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 GRCh37 Chromosome 4, 170510629: 170510629
12 NEK1 NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 GRCh38 Chromosome 4, 169589478: 169589478
13 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh37 Chromosome 4, 170498231: 170498231
14 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh38 Chromosome 4, 169577080: 169577080
15 NEK1 NM_001199397.1(NEK1): c.117+1G> A single nucleotide variant Pathogenic rs794727285 GRCh37 Chromosome 4, 170523664: 170523664
16 NEK1 NM_001199397.1(NEK1): c.117+1G> A single nucleotide variant Pathogenic rs794727285 GRCh38 Chromosome 4, 169602513: 169602513
17 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh37 Chromosome 4, 170506525: 170506525
18 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh38 Chromosome 4, 169585374: 169585374
19 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh37 Chromosome 4, 170345819: 170345819
20 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh38 Chromosome 4, 169424668: 169424668
21 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh38 Chromosome 4, 169477323: 169477323
22 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh37 Chromosome 4, 170398474: 170398474
23 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh38 Chromosome 4, 169562196: 169562196
24 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh37 Chromosome 4, 170483347: 170483347
25 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
26 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh37 Chromosome 4, 170523158: 170523158
27 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh37 Chromosome 4, 170322975: 170322975
28 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh38 Chromosome 4, 169401824: 169401824
29 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh37 Chromosome 2, 20166496: 20166496
30 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh38 Chromosome 2, 19966735: 19966735
31 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh37 Chromosome 4, 170345893: 170345893
32 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh38 Chromosome 4, 169424742: 169424742
33 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh37 Chromosome 4, 170459044: 170459044
34 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh38 Chromosome 4, 169537893: 169537893
35 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh37 Chromosome 4, 170477125: 170477125
36 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh38 Chromosome 4, 169555974: 169555974
37 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh38 Chromosome 4, 169561732: 169561732
38 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh37 Chromosome 4, 170482883: 170482883
39 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh38 Chromosome 4, 169562149: 169562149
40 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh37 Chromosome 4, 170483300: 170483300
41 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh38 Chromosome 4, 169585552: 169585552
42 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh37 Chromosome 4, 170506703: 170506703
43 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh37 Chromosome 4, 170398454: 170398454
44 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh38 Chromosome 4, 169477303: 169477303
45 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Likely pathogenic rs771487311 GRCh38 Chromosome 11, 103255530: 103255530
46 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Likely pathogenic rs771487311 GRCh37 Chromosome 11, 103126259: 103126259
47 IFT80 NM_020800.2(IFT80): c.721G> C (p.Gly241Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138004478 GRCh37 Chromosome 3, 160073857: 160073857
48 IFT80 NM_020800.2(IFT80): c.721G> C (p.Gly241Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138004478 GRCh38 Chromosome 3, 160356069: 160356069
49 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh38 Chromosome 2, 19982471: 19982471
50 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh37 Chromosome 2, 20182232: 20182232

Expression for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 DYNC2H1 IFT122 IFT80 TCTN1 TCTN2 TCTN3
2
Show member pathways
12.17 DYNC2H1 EVC EVC2 FUZ IFT122 TTC21B
3 10.63 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B

GO Terms for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.8 DYNC2H1 EVC EVC2 IFT122 IFT80 TRAF3IP1
2 cytoskeleton GO:0005856 9.7 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3 ciliary basal body GO:0036064 9.65 EVC IFT122 TRAF3IP1
4 ciliary membrane GO:0060170 9.62 EVC EVC2 TCTN2 TCTN3
5 ciliary tip GO:0097542 9.55 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
6 ciliary transition zone GO:0035869 9.52 TCTN1 TRAF3IP1
7 ciliary base GO:0097546 9.51 IFT122 TRAF3IP1
8 intraciliary transport particle B GO:0030992 9.49 IFT80 TRAF3IP1
9 MKS complex GO:0036038 9.46 TCTN1 TCTN2
10 plasma membrane protein complex GO:0098797 9.43 EVC EVC2
11 intraciliary transport particle A GO:0030991 9.4 IFT122 TTC21B
12 cell projection GO:0042995 9.32 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
13 cytoplasm GO:0005737 10.21 CYP2U1 DDHD1 DYNC2H1 EVC EVC2 FUZ

Biological processes related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.65 TCTN1 TCTN2 TCTN3
2 smoothened signaling pathway GO:0007224 9.65 EVC EVC2 TCTN2 TCTN3 TTC21B
3 non-motile cilium assembly GO:1905515 9.61 DYNC2H1 FUZ IFT122
4 protein localization to cilium GO:0061512 9.58 DYNC2H1 IFT122 TTC21B
5 cell projection organization GO:0030030 9.56 DYNC2H1 FUZ IFT122 NEK1 TCTN1 TCTN2
6 intraciliary transport involved in cilium assembly GO:0035735 9.55 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
7 regulation of smoothened signaling pathway GO:0008589 9.54 FUZ TCTN1 TTC21B
8 dorsal/ventral pattern formation GO:0009953 9.52 DYNC2H1 IFT122
9 positive regulation of smoothened signaling pathway GO:0045880 9.51 DYNC2H1 EVC
10 intraciliary retrograde transport GO:0035721 9.5 DYNC2H1 IFT122 TTC21B
11 embryonic heart tube development GO:0035050 9.49 IFT122 TRAF3IP1
12 embryonic body morphogenesis GO:0010172 9.46 FUZ IFT122
13 cilium assembly GO:0060271 9.28 DYNC2H1 FUZ IFT122 IFT80 NEK1 TCTN1

Sources for Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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