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 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:
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:

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 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 eye, and related phenotypes are delayed speech and language development and pectus carinatum

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

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 28)
# Related Disease Score Top Affiliating Genes
1 polydactyly 31.1 DYNC2H1 EVC NEK1 TTC21B
2 short-rib thoracic dysplasia 3 with or without polydactyly 30.9 DYNC2H1 EVC IFT122 IFT80 NEK1 TCTN3
3 zerres rietschel majewski syndrome 12.1
4 orofaciodigital syndrome iv 12.0
5 lenz-majewski hyperostotic dwarfism 11.7
6 bosma arhinia microphthalmia syndrome 11.0
7 short-rib thoracic dysplasia 10 with or without polydactyly 10.7
8 orofaciodigital syndrome 10.3
9 kidney disease 10.2
10 weyers acrofacial dysostosis 10.1 EVC EVC2
11 acrofacial dysostosis 10.1 EVC EVC2
12 polydactyly, postaxial, type a1 10.1 EVC EVC2
13 meckel syndrome, type 8 10.1 TCTN1 TCTN2
14 sengers syndrome 10.0 DDHD1 PTDSS1
15 clouston syndrome 10.0 EVC EVC2
16 orofaciodigital syndrome vi 10.0 TCTN1 TCTN3
17 asphyxiating thoracic dystrophy 10.0 DYNC2H1 IFT80 NEK1 TTC21B
18 cleft lip/palate 10.0 DYNC2H1 IFT80 NEK1 TTC21B
19 cleft palate, isolated 10.0
20 hydrocephalus 10.0
21 spastic paraplegia 54, autosomal recessive 9.9 CYP2U1 DDHD1
22 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 CYP2U1 DDHD1 PTDSS1
23 meckel syndrome, type 1 9.9 TCTN1 TCTN2 TCTN3 TTC21B
24 joubert syndrome 1 9.9 TCTN1 TCTN2 TCTN3 TTC21B
25 short-rib thoracic dysplasia 1 with or without polydactyly 9.9 DYNC2H1 EVC2 IFT80 TRAF3IP1 TTC21B
26 ellis-van creveld syndrome 9.8 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
27 short-rib thoracic dysplasia 12 9.7 EVC2 IFT122 IFT80 NEK1 TTC21B
28 cranioectodermal dysplasia 1 9.5 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 37)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 very rare (1%) HP:0000750
2 pectus carinatum 32 very rare (1%) HP:0000768
3 brachycephaly 32 occasional (7.5%) HP:0000248
4 cleft palate 32 HP:0000175
5 narrow chest 32 HP:0000774
6 hydrops fetalis 32 HP:0001789
7 hepatic fibrosis 32 occasional (7.5%) HP:0001395
8 atrial septal defect 32 occasional (7.5%) HP:0001631
9 motor delay 32 very rare (1%) HP:0001270
10 polycystic kidney dysplasia 32 HP:0000113
11 brachydactyly 32 HP:0001156
12 ventricular septal defect 32 occasional (7.5%) HP:0001629
13 intestinal malrotation 32 occasional (7.5%) HP:0002566
14 ambiguous genitalia 32 HP:0000062
15 pancreatic fibrosis 32 occasional (7.5%) HP:0100732
16 preaxial hand polydactyly 32 HP:0001177
17 pachygyria 32 occasional (7.5%) HP:0001302
18 postaxial hand polydactyly 32 HP:0001162
19 micropenis 32 occasional (7.5%) HP:0000054
20 pulmonary hypoplasia 32 HP:0002089
21 median cleft lip 32 HP:0000161
22 retinal dystrophy 32 very rare (1%) HP:0000556
23 cerebellar vermis hypoplasia 32 occasional (7.5%) HP:0001320
24 tricuspid regurgitation 32 very rare (1%) HP:0005180
25 mesomelia 32 HP:0003027
26 microglossia 32 occasional (7.5%) HP:0000171
27 hamartoma of tongue 32 HP:0011802
28 hypermetropia 32 HP:0000540
29 short ribs 32 HP:0000773
30 lateral clavicle hook 32 HP:0000895
31 dilation of lateral ventricles 32 occasional (7.5%) HP:0006956
32 hypoplasia of the epiglottis 32 HP:0005349
33 horizontal ribs 32 HP:0000888
34 disproportionate shortening of the tibia 32 HP:0005766
35 thoracic dysplasia 32 HP:0006644
36 polysyndactyly of hallux 32 HP:0005873
37 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 10.2 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
2 craniofacial MP:0005382 10.09 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
3 growth/size/body region MP:0005378 10.07 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
4 mortality/aging MP:0010768 10.03 CYP2U1 DYNC2H1 EVC EVC2 FUZ IFT122
5 limbs/digits/tail MP:0005371 10.02 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
6 embryo MP:0005380 9.95 DYNC2H1 FUZ IFT122 TCTN1 TCTN2 TRAF3IP1
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 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 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, Eye, Pancreas, Liver, Brain, Heart

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 21)
# Title Authors Year
1
Craniovertebral junction stenosis in Lenz-Majewski syndrome. ( 25779830 )
2015
2
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. ( 26117586 )
2015
3
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. ( 24241535 )
2014
4
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )
2014
5
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). ( 25587461 )
2014
6
TCTN3 mutations cause Mohr-Majewski syndrome. ( 22883145 )
2012
7
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )
2010
8
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. ( 17535085 )
2007
9
A Japanese patient with a mild Lenz-Majewski syndrome. ( 17593321 )
2007
10
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. ( 15194948 )
2004
11
Prenatal sonographic diagnosis of Majewski syndrome. ( 12116111 )
2002
12
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. ( 10422014 )
1999
13
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. ( 9555586 )
1998
14
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
15
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. ( 2325097 )
1990
16
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
17
Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. ( 6535999 )
1984
18
Lenz-Majewski syndrome. ( 6611917 )
1983
19
Parental consanguinity and the Majewski syndrome. ( 7077625 )
1982
20
Ocular pathology of the Majewski syndrome. ( 7126521 )
1982
21
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:

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 122)
# 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 Pathogenic/Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
4 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/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_012224.2(NEK1): c.1081-8dupT duplication Conflicting interpretations of pathogenicity rs398124255 GRCh37 Chromosome 4, 170483050: 170483050
14 NEK1 NM_012224.2(NEK1): c.1081-8dupT duplication Conflicting interpretations of pathogenicity rs398124255 GRCh38 Chromosome 4, 169561899: 169561899
15 NEK1 NM_012224.2(NEK1): c.1746A> G (p.Glu582=) single nucleotide variant Benign/Likely benign rs17544885 GRCh37 Chromosome 4, 170429402: 170429402
16 NEK1 NM_012224.2(NEK1): c.1746A> G (p.Glu582=) single nucleotide variant Benign/Likely benign rs17544885 GRCh38 Chromosome 4, 169508251: 169508251
17 NEK1 NM_012224.2(NEK1): c.2681-20G> A single nucleotide variant Benign rs7680152 GRCh37 Chromosome 4, 170354836: 170354836
18 NEK1 NM_012224.2(NEK1): c.2681-20G> A single nucleotide variant Benign rs7680152 GRCh38 Chromosome 4, 169433685: 169433685
19 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh37 Chromosome 4, 170498231: 170498231
20 NEK1 NM_001199397.1(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 GRCh38 Chromosome 4, 169577080: 169577080
21 NEK1 NM_001199397.1(NEK1): c.117+1G> A single nucleotide variant Pathogenic rs794727285 GRCh37 Chromosome 4, 170523664: 170523664
22 NEK1 NM_001199397.1(NEK1): c.117+1G> A single nucleotide variant Pathogenic rs794727285 GRCh38 Chromosome 4, 169602513: 169602513
23 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh37 Chromosome 4, 170506525: 170506525
24 NEK1 NM_012224.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 GRCh38 Chromosome 4, 169585374: 169585374
25 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh37 Chromosome 4, 170345819: 170345819
26 NEK1 NM_001199397.1(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs199947197 GRCh38 Chromosome 4, 169424668: 169424668
27 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh38 Chromosome 4, 169477323: 169477323
28 NEK1 NM_012224.2(NEK1): c.2151T> G (p.Asn717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 GRCh37 Chromosome 4, 170398474: 170398474
29 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh38 Chromosome 4, 169562196: 169562196
30 NEK1 NM_012224.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 GRCh37 Chromosome 4, 170483347: 170483347
31 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh38 Chromosome 4, 169602007: 169602007
32 NEK1 NM_012224.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 GRCh37 Chromosome 4, 170523158: 170523158
33 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh37 Chromosome 4, 170322975: 170322975
34 NEK1 NM_012224.2(NEK1): c.3327G> A (p.Leu1109=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 GRCh38 Chromosome 4, 169401824: 169401824
35 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh37 Chromosome 2, 20166496: 20166496
36 WDR35 NM_001006657.1(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 GRCh38 Chromosome 2, 19966735: 19966735
37 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh37 Chromosome 4, 170345893: 170345893
38 NEK1 NM_012224.2(NEK1): c.2949G> A (p.Pro983=) single nucleotide variant Benign/Likely benign rs7655924 GRCh38 Chromosome 4, 169424742: 169424742
39 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh37 Chromosome 4, 170459044: 170459044
40 NEK1 NM_012224.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 GRCh38 Chromosome 4, 169537893: 169537893
41 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh37 Chromosome 4, 170477125: 170477125
42 NEK1 NM_012224.2(NEK1): c.1388C> T (p.Ala463Val) single nucleotide variant Benign/Likely benign rs34540355 GRCh38 Chromosome 4, 169555974: 169555974
43 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh38 Chromosome 4, 169561732: 169561732
44 NEK1 NM_012224.2(NEK1): c.1146T> C (p.Ile382=) single nucleotide variant Benign/Likely benign rs56064008 GRCh37 Chromosome 4, 170482883: 170482883
45 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh38 Chromosome 4, 169562149: 169562149
46 NEK1 NM_012224.2(NEK1): c.1068G> A (p.Arg356=) single nucleotide variant Benign rs17055010 GRCh37 Chromosome 4, 170483300: 170483300
47 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh38 Chromosome 4, 169585552: 169585552
48 NEK1 NM_012224.2(NEK1): c.607-3T> C single nucleotide variant Benign/Likely benign rs55679731 GRCh37 Chromosome 4, 170506703: 170506703
49 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh37 Chromosome 4, 170398454: 170398454
50 NEK1 NM_012224.2(NEK1): c.2171A> G (p.Glu724Gly) single nucleotide variant Benign rs34099167 GRCh38 Chromosome 4, 169477303: 169477303

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 ciliary basal body GO:0036064 9.65 EVC IFT122 TRAF3IP1
3 cell projection GO:0042995 9.65 DYNC2H1 EVC EVC2 FUZ IFT122 IFT80
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 base GO:0097546 9.52 IFT122 TRAF3IP1
7 ciliary transition zone GO:0035869 9.51 TCTN1 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 cytoskeleton GO:0005856 9.36 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 9.67 TCTN1 TCTN2 TCTN3
2 intraciliary transport involved in cilium assembly GO:0035735 9.65 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
3 positive regulation of smoothened signaling pathway GO:0045880 9.63 DYNC2H1 EVC IFT80
4 smoothened signaling pathway GO:0007224 9.63 EVC EVC2 IFT80 TCTN2 TCTN3 TTC21B
5 non-motile cilium assembly GO:1905515 9.62 DYNC2H1 FUZ IFT122 IFT80
6 protein localization to cilium GO:0061512 9.61 DYNC2H1 IFT122 TTC21B
7 regulation of smoothened signaling pathway GO:0008589 9.58 FUZ TCTN1 TTC21B
8 cell projection organization GO:0030030 9.56 DYNC2H1 FUZ IFT122 NEK1 TCTN1 TCTN2
9 intraciliary retrograde transport GO:0035721 9.54 DYNC2H1 IFT122 TTC21B
10 dorsal/ventral pattern formation GO:0009953 9.52 DYNC2H1 IFT122
11 embryonic heart tube development GO:0035050 9.51 IFT122 TRAF3IP1
12 embryonic body morphogenesis GO:0010172 9.48 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
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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