SRTD6
MCID: SHR069
MIFTS: 52

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly (SRTD6)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory 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 58 12 76 15
Majewski Syndrome 58 12 54 76 74
Short Rib-Polydactyly Syndrome, Majewski Type 60 30 6
Srps2a 58 12 76
Srtd6 58 12 76
Polydactyly with Neonatal Chondrodystrophy, Type Ii 58 12
Short Rib-Polydactyly Syndrome, Type Iia 58 13
Short Rib-Polydactyly Syndrome Type Iia 12 76
Short Rib-Polydactyly Syndrome Type Ii 54 76
Short Rib-Polydactyly Syndrome Type 2 54 60
Dysplasia, Thoracic, Short-Rib, Type 6 with or Without Polydactyly ) 41
Polydactyly with Neonatal Chondrodystrophy Type Ii 76
Polydactyly with Neonatal Chondrodystrophy Type 2 54
Short Rib-Polydactyly Syndrome, Type Iia; Srps2a 58
Short Rib-Polydactyly Syndrome Majewski Type 54
Short Rib-Polydactyly Syndrome, Type Ii 58
Short Rib-Polydactyly Syndrome 2a 76
Srps, Type Ii 58
Srps Type Ii 76
Srps Type 2 54

Characteristics:

Orphanet epidemiological data:

60
short rib-polydactyly syndrome, majewski type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
variable features may be present
death in perinatal period (in some patients)
a digenic form caused by heterozygous mutations in both nek1 and dyn2ch1 has been reported (last curated june 2018)


HPO:

33
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 : 58 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 polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. 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 pancreas, and related phenotypes are brachycephaly and hepatic fibrosis

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

UniProtKB/Swiss-Prot : 76 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

Diseases in the Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 polydactyly 31.1 DYNC2H1 EVC NEK1 TTC21B
2 short-rib thoracic dysplasia 3 with or without polydactyly 30.2 DYNC2H1 EVC IFT122 IFT80 NEK1 TCTN3
3 zerres rietschel majewski syndrome 12.1
4 lenz-majewski hyperostotic dwarfism 12.1
5 orofaciodigital syndrome iv 12.0
6 bosma arhinia microphthalmia syndrome 11.1
7 short-rib thoracic dysplasia 10 with or without polydactyly 10.7
8 orofaciodigital syndrome 10.3
9 weyers acrofacial dysostosis 10.2 EVC EVC2
10 acrofacial dysostosis 10.2 EVC EVC2
11 polydactyly, postaxial, type a1 10.2 EVC EVC2
12 kidney disease 10.2
13 meckel syndrome, type 8 10.1 TCTN1 TCTN2
14 sengers syndrome 10.1 DDHD1 PTDSS1
15 clouston syndrome 10.1 EVC EVC2
16 orofaciodigital syndrome vi 10.0 TCTN1 TCTN3
17 senior-loken syndrome 1 10.0 TRAF3IP1 TTC21B WDR19
18 cleft palate, isolated 10.0
19 hydrocephalus 10.0
20 nephronophthisis 9.9 TRAF3IP1 TTC21B WDR19
21 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.8 DDHD1 PTDSS1
22 meckel syndrome, type 1 9.8 TCTN1 TCTN2 TCTN3 TTC21B
23 joubert syndrome 1 9.8 TCTN1 TCTN2 TCTN3 TTC21B
24 asphyxiating thoracic dystrophy 9.7 DYNC2H1 IFT80 TTC21B WDR19
25 cleft lip/palate 9.6 DYNC2H1 IFT80 NEK1 TTC21B WDR19
26 short-rib thoracic dysplasia 1 with or without polydactyly 9.4 DYNC2H1 EVC2 IFT80 TRAF3IP1 TTC21B WDR19
27 ellis-van creveld syndrome 9.3 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
28 short-rib thoracic dysplasia 12 9.2 EVC2 IFT122 IFT80 NEK1 TTC21B WDR19
29 cranioectodermal dysplasia 1 9.1 DYNC2H1 FUZ IFT122 IFT80 TRAF3IP1 TTC21B

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

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

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 33 occasional (7.5%) HP:0000248
2 hepatic fibrosis 33 occasional (7.5%) HP:0001395
3 atrial septal defect 33 occasional (7.5%) HP:0001631
4 ventricular septal defect 33 occasional (7.5%) HP:0001629
5 intestinal malrotation 33 occasional (7.5%) HP:0002566
6 pancreatic fibrosis 33 occasional (7.5%) HP:0100732
7 pachygyria 33 occasional (7.5%) HP:0001302
8 micropenis 33 occasional (7.5%) HP:0000054
9 cerebellar vermis hypoplasia 33 occasional (7.5%) HP:0001320
10 microglossia 33 occasional (7.5%) HP:0000171
11 dilation of lateral ventricles 33 occasional (7.5%) HP:0006956
12 delayed speech and language development 33 very rare (1%) HP:0000750
13 pectus carinatum 33 very rare (1%) HP:0000768
14 motor delay 33 very rare (1%) HP:0001270
15 retinal dystrophy 33 very rare (1%) HP:0000556
16 tricuspid regurgitation 33 very rare (1%) HP:0005180
17 cleft palate 33 HP:0000175
18 narrow chest 33 HP:0000774
19 hydrops fetalis 33 HP:0001789
20 polycystic kidney dysplasia 33 HP:0000113
21 brachydactyly 33 HP:0001156
22 ambiguous genitalia 33 HP:0000062
23 preaxial hand polydactyly 33 HP:0001177
24 postaxial hand polydactyly 33 HP:0001162
25 pulmonary hypoplasia 33 HP:0002089
26 median cleft lip 33 HP:0000161
27 mesomelia 33 HP:0003027
28 hamartoma of tongue 33 HP:0011802
29 hypermetropia 33 HP:0000540
30 short ribs 33 HP:0000773
31 lateral clavicle hook 33 HP:0000895
32 hypoplasia of the epiglottis 33 HP:0005349
33 horizontal ribs 33 HP:0000888
34 disproportionate shortening of the tibia 33 HP:0005766
35 thoracic dysplasia 33 HP:0006644
36 polysyndactyly of hallux 33 HP:0005873
37 postaxial polysyndactyly of foot 33 HP:0005817

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations:
hydrops fetalis

Genitourinary External Genitalia Female:
ambiguous genitalia

Head And Neck Mouth:
median cleft lip
microform cleft lip
cleft-palate
lingual hamartoma (in some patients)
multiple frenula (in some patients)
more
Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
brachydactyly (rare) polysyndactyly

Head And Neck Eyes:
hyperopia
retinal dystrophy, severe generalized (rare)

Genitourinary Kidneys:
polycystic kidneys
glomerular and renal tubular cysts

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)
bicuspid insufficiency, mild (rare)
tricuspid insufficiency, mild (rare)

Abdomen Liver:
hepatic fibrosis (rare)

Head And Neck Head:
brachycephaly (in some patients)

Respiratory Larynx:
malformed larynx

Skeletal:
markedly stunted and disorganized endochondral ossification
hypermobile joints

Skeletal Pelvis:
underdeveloped lower pelvis (rare)

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

Respiratory Lung:
pulmonary hypoplasia

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

Skeletal Feet:
postaxial polydactyly
hallucal and postaxial polysyndactyly

Skeletal Limbs:
mesomelic limb shortening
short long bones
disproportionate shortening of the tibia
ovoid tibia shorter than fibula
tibial agenesis (in some patients)
more
Chest External Features:
narrow thorax
pectus carinatum (rare)

Respiratory Nasopharynx:
hypoplastic epiglottis

Abdomen Gastrointestinal:
intestinal malrotation (in some patients)

Growth Height:
dwarfism, disproportionate

Abdomen Pancreas:
microcystic pancreas (rare)
pancreatic fibrosis (rare)

Skeletal Spine:
platyspondyly, mild (rare)

Neurologic Central Nervous System:
dilation of lateral ventricles (in some patients)
motor delay (rare)
speech delay (rare)
pachygyria (rare)
hypoplastic cerebellar vermis (rare)
more

Clinical features from OMIM:

263520

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
2 craniofacial MP:0005382 10.16 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3 growth/size/body region MP:0005378 10.11 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
4 limbs/digits/tail MP:0005371 10.06 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
5 mortality/aging MP:0010768 10.03 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
6 embryo MP:0005380 10.01 DYNC2H1 FUZ IFT122 TCTN1 TCTN2 TRAF3IP1
7 digestive/alimentary MP:0005381 9.91 DYNC2H1 FUZ IFT122 PI4KA TCTN2 WDR19
8 nervous system MP:0003631 9.85 DYNC2H1 FUZ IFT122 NEK1 PTDSS1 TCTN1
9 skeleton MP:0005390 9.61 DDHD1 DYNC2H1 EVC EVC2 FUZ IFT80
10 vision/eye MP:0005391 9.17 DYNC2H1 FUZ IFT122 IFT80 TCTN2 TRAF3IP1

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 30 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:

42
Kidney, Bone, Pancreas, Brain, Eye, Tongue, Trachea

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

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

(show all 22)
# Title Authors Year
1
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. ( 30854527 )
2016
2
Craniovertebral junction stenosis in Lenz-Majewski syndrome. ( 25779830 )
2015
3
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. ( 26117586 )
2015
4
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ( 24241535 )
2014
5
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )
2014
6
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). ( 25587461 )
2014
7
TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )
2012
8
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )
2010
9
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
10
A Japanese patient with a mild Lenz-Majewski syndrome. ( 17593321 )
2007
11
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. ( 15194948 )
2004
12
Prenatal sonographic diagnosis of Majewski syndrome. ( 12116111 )
2002
13
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999
14
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. ( 9555586 )
1998
15
Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. ( 7981861 )
1994
16
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. ( 2325097 )
1990
17
Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome. ( 2773987 )
1989
18
Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. ( 6535999 )
1984
19
Lenz-Majewski syndrome. ( 6611917 )
1983
20
Parental consanguinity and the Majewski syndrome. ( 7077625 )
1982
21
Ocular pathology of the Majewski syndrome. ( 7126521 )
1982
22
Syndrome of polydactyly, micromelia, genital hypoplasia and respiratory distress (Majewski syndrome). ( 1227571 )
1975

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:

76
# 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 120)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh37 Chromosome 4, 170498231: 170498231
2 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh38 Chromosome 4, 169577080: 169577080
3 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh37 Chromosome 4, 170506525: 170506525
4 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh38 Chromosome 4, 169585374: 169585374
5 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh37 Chromosome 4, 170345819: 170345819
6 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh38 Chromosome 4, 169424668: 169424668
7 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
8 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh38 Chromosome 4, 5640789: 5640789
9 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
10 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs794726665 GRCh38 Chromosome 4, 5793722: 5793722
11 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh37 Chromosome 4, 5749953: 5749953
12 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh38 Chromosome 4, 5748226: 5748226
13 NEK1 NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 GRCh37 Chromosome 4, 170511894: 170511894
14 NEK1 NM_001199397.1(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 GRCh38 Chromosome 4, 169590743: 169590743
15 NEK1 NM_001199397.1(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 GRCh37 Chromosome 4, 170498232: 170498232
16 NEK1 NM_001199397.1(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 GRCh38 Chromosome 4, 169577081: 169577081
17 NEK1 NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 GRCh37 Chromosome 4, 170510629: 170510629
18 NEK1 NM_001199397.1(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 GRCh38 Chromosome 4, 169589478: 169589478
19 NEK1 NM_012224.2(NEK1): c.1081-8dupT duplication Conflicting interpretations of pathogenicity rs398124255 GRCh37 Chromosome 4, 170483050: 170483050
20 NEK1 NM_012224.2(NEK1): c.1081-8dupT duplication Conflicting interpretations of pathogenicity rs398124255 GRCh38 Chromosome 4, 169561899: 169561899
21 NEK1 NM_012224.2(NEK1): c.1746A> G (p.Glu582=) single nucleotide variant Benign/Likely benign rs17544885 GRCh37 Chromosome 4, 170429402: 170429402
22 NEK1 NM_012224.2(NEK1): c.1746A> G (p.Glu582=) single nucleotide variant Benign/Likely benign rs17544885 GRCh38 Chromosome 4, 169508251: 169508251
23 NEK1 NM_012224.2(NEK1): c.2681-20G> A single nucleotide variant Benign rs7680152 GRCh37 Chromosome 4, 170354836: 170354836
24 NEK1 NM_012224.2(NEK1): c.2681-20G> A single nucleotide variant Benign rs7680152 GRCh38 Chromosome 4, 169433685: 169433685
25 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh38 Chromosome 4, 169477323: 169477323
26 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh37 Chromosome 4, 170398474: 170398474
27 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh38 Chromosome 4, 169562196: 169562196
28 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh37 Chromosome 4, 170483347: 170483347
29 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
30 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh37 Chromosome 4, 170523158: 170523158
31 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh37 Chromosome 4, 170322975: 170322975
32 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh38 Chromosome 4, 169401824: 169401824
33 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh37 Chromosome 2, 20166496: 20166496
34 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh38 Chromosome 2, 19966735: 19966735
35 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh38 Chromosome 4, 169424742: 169424742
36 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh37 Chromosome 4, 170345893: 170345893
37 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh38 Chromosome 4, 169537893: 169537893
38 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh37 Chromosome 4, 170459044: 170459044
39 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh38 Chromosome 4, 169555974: 169555974
40 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh37 Chromosome 4, 170477125: 170477125
41 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh38 Chromosome 4, 169561732: 169561732
42 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh37 Chromosome 4, 170482883: 170482883
43 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh38 Chromosome 4, 169562149: 169562149
44 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh37 Chromosome 4, 170483300: 170483300
45 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh38 Chromosome 4, 169585552: 169585552
46 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh37 Chromosome 4, 170506703: 170506703
47 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh38 Chromosome 4, 169477303: 169477303
48 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh37 Chromosome 4, 170398454: 170398454
49 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Likely pathogenic rs771487311 GRCh38 Chromosome 11, 103255530: 103255530
50 DYNC2H1 NM_001080463.1(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Likely pathogenic rs771487311 GRCh37 Chromosome 11, 103126259: 103126259

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
12.34 DYNC2H1 IFT122 IFT80 TCTN1 TCTN2 TCTN3
2
Show member pathways
12.24 DYNC2H1 EVC EVC2 FUZ IFT122 TTC21B
3 10.71 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B WDR19

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 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.9 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
2 cilium GO:0005929 9.86 DYNC2H1 EVC EVC2 IFT122 IFT80 TRAF3IP1
3 cytoskeleton GO:0005856 9.73 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
4 ciliary membrane GO:0060170 9.67 EVC EVC2 TCTN2 TCTN3
5 ciliary basal body GO:0036064 9.65 EVC IFT122 TRAF3IP1
6 photoreceptor connecting cilium GO:0032391 9.54 IFT122 WDR19
7 ciliary base GO:0097546 9.52 IFT122 TRAF3IP1
8 ciliary transition zone GO:0035869 9.51 TCTN1 TRAF3IP1
9 intraciliary transport particle A GO:0030991 9.5 IFT122 TTC21B WDR19
10 intraciliary transport particle B GO:0030992 9.49 IFT80 TRAF3IP1
11 MKS complex GO:0036038 9.46 TCTN1 TCTN2
12 plasma membrane protein complex GO:0098797 9.43 EVC EVC2
13 ciliary tip GO:0097542 9.1 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B WDR19
14 cytoplasm GO:0005737 10.25 DDHD1 DYNC2H1 EVC EVC2 FUZ IFT122

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 intraciliary transport involved in cilium assembly GO:0035735 9.73 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B WDR19
2 ciliary basal body-plasma membrane docking GO:0097711 9.7 TCTN1 TCTN2 TCTN3
3 smoothened signaling pathway GO:0007224 9.7 EVC EVC2 IFT80 TCTN2 TCTN3 TTC21B
4 non-motile cilium assembly GO:1905515 9.67 DYNC2H1 FUZ IFT122 IFT80
5 positive regulation of smoothened signaling pathway GO:0045880 9.63 DYNC2H1 EVC IFT80
6 intraciliary retrograde transport GO:0035721 9.62 DYNC2H1 IFT122 TTC21B WDR19
7 protein localization to cilium GO:0061512 9.61 DYNC2H1 IFT122 TTC21B
8 cell projection organization GO:0030030 9.61 DYNC2H1 FUZ IFT122 NEK1 TCTN1 TCTN2
9 regulation of smoothened signaling pathway GO:0008589 9.58 FUZ TCTN1 TTC21B
10 dorsal/ventral pattern formation GO:0009953 9.56 DYNC2H1 IFT122
11 embryonic heart tube development GO:0035050 9.55 IFT122 TRAF3IP1
12 embryonic camera-type eye development GO:0031076 9.54 TRAF3IP1 WDR19
13 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.51 IFT122 WDR19
14 embryonic body morphogenesis GO:0010172 9.49 FUZ IFT122
15 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.48 IFT122 WDR19
16 cilium assembly GO:0060271 9.32 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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