SRTD6
MCID: SHR069
MIFTS: 56

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 20 73 15
Majewski Syndrome 57 12 20 73 71
Short Rib-Polydactyly Syndrome, Majewski Type 20 58 29 6
Srps2a 57 12 73
Srtd6 57 12 73
Polydactyly with Neonatal Chondrodystrophy, Type Ii 57 12
Short Rib-Polydactyly Syndrome, Type Iia 57 13
Short Rib-Polydactyly Syndrome Type Iia 12 73
Short Rib-Polydactyly Syndrome Type Ii 20 73
Short Rib-Polydactyly Syndrome Type 2 20 58
Dysplasia, Thoracic, Short-Rib, Type 6 with or Without Polydactyly 39
Polydactyly with Neonatal Chondrodystrophy Type Ii 73
Polydactyly with Neonatal Chondrodystrophy Type 2 20
Short Rib-Polydactyly Syndrome, Type Iia; Srps2a 57
Short Rib-Polydactyly Syndrome Majewski Type 20
Short Rib-Polydactyly Syndrome, Type Ii 57
Short Rib-Polydactyly Syndrome 2a 73
Srps, Type Ii 57
Srps Type Ii 73
Srps Type 2 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Mar-2021)
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:

31
short-rib thoracic dysplasia 6 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:

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


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) (Updated 05-Mar-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly, also known as majewski syndrome, is related to short rib-polydactyly syndrome 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 pancreas, eye and kidney, 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 : 73 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 1 with or Without Polydactyly family:

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 3 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 top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 short rib-polydactyly syndrome 31.4 WDR35 DYNC2H1
2 short-rib thoracic dysplasia 3 with or without polydactyly 31.3 WDR35 WDR19 TTC21B TRAF3IP1 TMEM256-PLSCR3 NEK1
3 polydactyly 30.6 WDR35 WDR19 TTC21B TCTN3 TCTN2 NEK1
4 cleft lip/palate 30.2 WDR35 IFT172 DYNLT2B DYNC2H1 CEP120
5 orofaciodigital syndrome vi 30.1 TCTN3 TCTN2 TCTN1 FUZ CEP120
6 ellis-van creveld syndrome 29.6 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
7 joubert syndrome 1 29.4 WDR35 WDR19 TTC21B TRAF3IP1 TCTN3 TCTN2
8 lenz-majewski hyperostotic dwarfism 11.6
9 orofaciodigital syndrome iv 11.5
10 zerres rietschel majewski syndrome 11.2
11 bosma arhinia microphthalmia syndrome 11.0
12 short-rib thoracic dysplasia 10 with or without polydactyly 10.7
13 acrofacial dysostosis 10.4 IFT80 EVC2 EVC
14 geographic tongue 10.4 DYNLT2B DYNC2H1
15 atrophic glossitis 10.4 DYNLT2B DYNC2H1
16 short-rib thoracic dysplasia 8 with or without polydactyly 10.4 DYNLT2B DYNC2H1
17 cystic kidney disease 10.4 TTC21B NEK1 IFT172
18 short-rib thoracic dysplasia 11 with or without polydactyly 10.4 DYNLT2B DYNC2H1
19 mckusick-kaufman syndrome 10.4 EVC2 EVC BBS10
20 anodontia 10.4 EVC2 EVC
21 bone development disease 10.4 IFT80 EVC2 DYNC2H1
22 cranioectodermal dysplasia 1 10.4 WDR35 WDR19
23 cleft lip 10.4
24 dwarfism 10.4
25 joubert syndrome 13 10.3 TTC21B TCTN2 TCTN1
26 oculoauricular syndrome 10.3 EVC2 EVC
27 nephronophthisis 13 10.3 WDR19 TTC21B
28 short-rib thoracic dysplasia 7 with or without polydactyly 10.3 WDR35 WDR19 TTC21B DYNLT2B
29 short-rib thoracic dysplasia 4 with or without polydactyly 10.3 WDR35 WDR19 TTC21B DYNLT2B
30 meckel syndrome, type 3 10.3 TCTN3 TCTN2 TCTN1
31 short-rib thoracic dysplasia 5 with or without polydactyly 10.3 WDR35 WDR19
32 short-rib thoracic dysplasia 9 with or without polydactyly 10.3 WDR35 WDR19 TTC21B IFT172
33 meckel syndrome, type 6 10.3 TCTN3 TCTN2 TCTN1
34 arachnoid cysts, intracranial 10.3
35 pachygyria 10.3
36 joubert syndrome 17 10.3 WDR35 FUZ
37 joubert syndrome 4 10.3 TTC21B TCTN2 TCTN1 IFT80
38 short-rib thoracic dysplasia 2 with or without polydactyly 10.3 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
39 coach syndrome 1 10.3 TTC21B TCTN3 TCTN2 TCTN1
40 joubert syndrome 3 10.3 TTC21B TCTN2 TCTN1 CEP120
41 coloboma of macula 10.3 TTC21B TCTN3 TCTN2 TCTN1
42 kartagener syndrome 10.3 TRAF3IP1 TCTN2 TCTN1 IFT80
43 polycystic kidney disease 4 with or without polycystic liver disease 10.2 WDR19 TTC21B TCTN2 IFT80 IFT172
44 orofaciodigital syndrome 10.2
45 chromosome 2q35 duplication syndrome 10.2
46 microcephaly 10.2
47 oligohydramnios 10.2
48 skeletal dysplasias 10.2
49 nephronophthisis 14 10.2 TCTN2 TCTN1
50 holoprosencephaly 10.2 TCTN3 TCTN2 TCTN1 IFT172

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:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 31 occasional (7.5%) HP:0000248
2 hepatic fibrosis 31 occasional (7.5%) HP:0001395
3 atrial septal defect 31 occasional (7.5%) HP:0001631
4 micropenis 31 occasional (7.5%) HP:0000054
5 ventricular septal defect 31 occasional (7.5%) HP:0001629
6 intestinal malrotation 31 occasional (7.5%) HP:0002566
7 pachygyria 31 occasional (7.5%) HP:0001302
8 pancreatic fibrosis 31 occasional (7.5%) HP:0100732
9 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320
10 microglossia 31 occasional (7.5%) HP:0000171
11 dilation of lateral ventricles 31 occasional (7.5%) HP:0006956
12 delayed speech and language development 31 very rare (1%) HP:0000750
13 pectus carinatum 31 very rare (1%) HP:0000768
14 motor delay 31 very rare (1%) HP:0001270
15 platyspondyly 31 very rare (1%) HP:0000926
16 retinal dystrophy 31 very rare (1%) HP:0000556
17 tricuspid regurgitation 31 very rare (1%) HP:0005180
18 cleft palate 31 HP:0000175
19 hydrops fetalis 31 HP:0001789
20 brachydactyly 31 HP:0001156
21 polycystic kidney dysplasia 31 HP:0000113
22 preaxial hand polydactyly 31 HP:0001177
23 narrow chest 31 HP:0000774
24 ambiguous genitalia 31 HP:0000062
25 postaxial hand polydactyly 31 HP:0001162
26 median cleft lip 31 HP:0000161
27 pulmonary hypoplasia 31 HP:0002089
28 mesomelia 31 HP:0003027
29 hamartoma of tongue 31 HP:0011802
30 short ribs 31 HP:0000773
31 lateral clavicle hook 31 HP:0000895
32 hypermetropia 31 HP:0000540
33 horizontal ribs 31 HP:0000888
34 polysyndactyly of hallux 31 HP:0005873
35 hypoplasia of the epiglottis 31 HP:0005349
36 postaxial polysyndactyly of foot 31 HP:0005817
37 thoracic dysplasia 31 HP:0006644
38 disproportionate shortening of the tibia 31 HP:0005766

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Prenatal Manifestations:
hydrops fetalis

Genitourinary External Genitalia Female:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
brachydactyly (rare)
polysyndactyly

Skeletal Limbs:
disproportionate shortening of the tibia
mesomelic limb shortening
short long bones
ovoid tibia shorter than fibula
tibial agenesis (in some patients)
more
Cardiovascular Heart:
ventricular septal defect (rare)
atrial septal defect (rare)
bicuspid insufficiency, mild (rare)
tricuspid insufficiency, mild (rare)

Chest External Features:
narrow thorax
pectus carinatum (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)

Head And Neck Mouth:
median cleft lip
microform cleft lip
cleft-palate
lingual hamartoma (in some patients)
multiple frenula (in some patients)
more
Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs
handlebar clavicles
bifurcated ribs
squared scapulae

Skeletal Feet:
postaxial polydactyly
hallucal and postaxial polysyndactyly

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

Genitourinary Kidneys:
polycystic kidneys
glomerular and renal tubular cysts

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 (Updated 05-Mar-2021)

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 10.33 BBS10 CEP120 DYNC2H1 EVC EVC2 FUZ
2 embryo MP:0005380 10.18 BBS10 CEP120 DYNC2H1 FUZ IFT172 TCTN1
3 growth/size/body region MP:0005378 10.18 BBS10 CEP120 DYNC2H1 EVC EVC2 FUZ
4 craniofacial MP:0005382 10.17 DYNC2H1 EVC EVC2 FUZ IFT172 IFT80
5 limbs/digits/tail MP:0005371 10.17 DYNC2H1 EVC EVC2 FUZ IFT172 IFT80
6 mortality/aging MP:0010768 10.13 BBS10 CEP120 DYNC2H1 EVC EVC2 FUZ
7 nervous system MP:0003631 9.93 BBS10 CEP120 DYNC2H1 FUZ IFT172 NEK1
8 skeleton MP:0005390 9.7 CEP120 DYNC2H1 EVC EVC2 FUZ IFT172
9 vision/eye MP:0005391 9.36 BBS10 DYNC2H1 FUZ IFT172 IFT80 NEK1

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:

40
Pancreas, Eye, Kidney, Tongue, Bone, Liver, Skin

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

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

(show top 50) (show all 62)
# Title Authors PMID Year
1
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 57 6
28123176 2017
2
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 6 57
25492405 2015
3
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 6 57
22499340 2012
4
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 57 6
21211617 2011
5
Ciliary disorder of the skeleton. 57 61
22791528 2012
6
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 57 61
3608220 1987
7
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes. 61 57
6467657 1984
8
Ocular pathology of the Majewski syndrome. 57 61
7126521 1982
9
Short rib-polydactyly syndrome, Majewski type, in two male siblings. 61 57
478536 1979
10
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 6
27925158 2017
11
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
12
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 6
23456818 2013
13
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 6
19442771 2009
14
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 6
19361615 2009
15
Oral-facial-skeletal syndromes. 57
8599363 1995
16
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. 57
8599362 1995
17
Chromosome 4p16 and osteochondroplasias. 57
8054971 1994
18
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. 57
7909650 1994
19
Brief clinical report: short rib-polydactyly syndrome, Majewski type. 57
6859096 1983
20
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. 57
7100463 1982
21
Short rib-polydactyly syndrome, Majewski type. 57
7468649 1980
22
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. 57
4816160 1974
23
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. 57
4331366 1971
24
Lenz-Majewski syndrome in a patient from Egypt. 61
31403251 2019
25
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. 61
31231513 2019
26
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 61
29341480 2018
27
Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy. 61
27126916 2017
28
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 61
27044099 2016
29
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. 61
30854527 2016
30
Craniovertebral junction stenosis in Lenz-Majewski syndrome. 61
25779830 2015
31
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. 61
26117586 2015
32
Tectonic gene mutations in patients with Joubert syndrome. 61
25118024 2015
33
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
34
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 61
24854045 2014
35
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 61
25587461 2014
36
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 61
24241535 2014
37
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 61
23459408 2013
38
TCTN3 mutations cause Mohr-Majewski syndrome. 61
22883145 2012
39
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 61
20607029 2010
40
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 61
18383484 2008
41
Skeletal dysplasias: 38 prenatal cases. 61
18990981 2008
42
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 61
17535085 2007
43
A Japanese patient with a mild Lenz-Majewski syndrome. 61
17593321 2007
44
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. 61
15194948 2004
45
Prenatal sonographic diagnosis of Majewski syndrome. 61
12116111 2002
46
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. 61
10422014 1999
47
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. 61
9605285 1998
48
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. 61
9555586 1998
49
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. 61
9215775 1997
50
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. 61
9098485 1997

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

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

6 (show top 50) (show all 496)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRAF3IP1 NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) SNV Pathogenic 446655 rs769651861 2:239233992-239233992 2:238325351-238325351
2 FUZ NM_025129.5(FUZ):c.98_111+9del Deletion Pathogenic 446675 rs548706733 19:50316244-50316266 19:49812987-49813009
3 TTC21B NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) SNV Pathogenic 446648 rs1553516687 2:166806125-166806125 2:165949615-165949615
4 NEK1 NM_012224.3(NEK1):c.379C>T (p.Arg127Ter) SNV Pathogenic 30428 rs387906890 4:170511894-170511894 4:169590743-169590743
5 NEK1 NM_012224.3(NEK1):c.869-2A>G SNV Pathogenic 30429 rs483352906 4:170498232-170498232 4:169577081-169577081
6 NEK1 NM_012224.3(NEK1):c.433G>A (p.Gly145Arg) SNV Pathogenic 40072 rs431905508 4:170510629-170510629 4:169589478-169589478
7 TRAF3IP1 NM_015650.4(TRAF3IP1):c.988-1G>C SNV Pathogenic 446656 rs372499275 2:239242600-239242600 2:238333959-238333959
8 TTC21B NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) SNV Pathogenic 446649 rs79746977 2:166764256-166764256 2:165907746-165907746
9 NEK1 NM_012224.3(NEK1):c.599_602del (p.Lys200fs) Deletion Pathogenic 446668 rs1554075284 4:170508714-170508717 4:169587563-169587566
10 NEK1 NM_012224.3(NEK1):c.1784del (p.Ser595fs) Deletion Pathogenic 446671 rs1362848762 4:170428909-170428909 4:169507758-169507758
11 NEK1 NM_001199397.2(NEK1):c.2886-1G>A SNV Pathogenic 446669 rs773496891 4:170347386-170347386 4:169426235-169426235
12 NEK1 NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter) SNV Pathogenic 446667 rs758677637 4:170459007-170459007 4:169537856-169537856
13 NEK1 NM_012224.3(NEK1):c.1685_1686del (p.Arg562fs) Deletion Pathogenic 446670 rs1554053289 4:170429462-170429463 4:169508311-169508312
14 NEK1 NM_012224.3(NEK1):c.514C>T (p.Pro172Ser) SNV Pathogenic 545534 rs1554075506 4:170509837-170509837 4:169588686-169588686
15 NEK1 NM_012224.3(NEK1):c.3746A>C (p.Asp1249Ala) SNV Pathogenic 545536 rs1157065841 4:170321393-170321393 4:169400242-169400242
16 NEK1 NM_001199397.3(NEK1):c.2190del (p.Asn731fs) Deletion Pathogenic 848105 4:170398598-170398598 4:169477447-169477447
17 DYNC2H1 NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) SNV Pathogenic 6504 rs137853028 11:103026205-103026205 11:103155476-103155476
18 DYNC2H1 NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) SNV Pathogenic 6505 rs137853029 11:103116103-103116103 11:103245374-103245374
19 DYNC2H1 NM_001377.3(DYNC2H1):c.5151+1G>T SNV Pathogenic 6510 rs431905499 11:103041020-103041020 11:103170291-103170291
20 DYNC2H1 NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) SNV Pathogenic 6511 rs137853033 11:103033875-103033875 11:103163146-103163146
21 DYNC2H1 NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) SNV Pathogenic 6512 rs137853034 11:103060490-103060490 11:103189761-103189761
22 DYNC2H1 NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) Deletion Pathogenic 6514 rs431905500 11:103124076-103124076 11:103253347-103253347
23 DYNC2H1 NM_001377.3(DYNC2H1):c.7486C>T (p.Pro2496Ser) SNV Pathogenic 40069 rs397514636 11:103062294-103062294 11:103191565-103191565
24 DYNC2H1 NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) Deletion Pathogenic 40071 rs431905507 11:103080677-103080677 11:103209948-103209948
25 NEK1 NM_001199398.2(NEK1):c.1558_1559del (p.Met520fs) Deletion Pathogenic 191325 rs786205645 4:170429978-170429979 4:169508827-169508828
26 DYNC2H1 NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) SNV Pathogenic 802716 rs781326398 11:103062250-103062250 11:103191521-103191521
27 NEK1 NM_012224.3(NEK1):c.1640dup (p.Asn547fs) Duplication Pathogenic 30430 rs483352907 4:170458984-170458985 4:169537833-169537834
28 NEK1 NM_012224.3(NEK1):c.2726_2729CAAA[1] (p.Asn910fs) Microsatellite Pathogenic 446673 rs752878896 4:170354764-170354767 4:169433613-169433616
29 NEK1 NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter) Duplication Pathogenic 944996 4:170459040-170459041 4:169537889-169537890
30 DYNC2H1 NM_001080463.1(DYNC2H1):c.626_654dup (p.Glu219Phefs) Duplication Pathogenic 6502 rs1565310938 11:102987302-102987303 11:103116573-103116574
31 NEK1 NM_012224.3(NEK1):c.869-1G>T SNV Pathogenic 193892 rs794727032 4:170498231-170498231 4:169577080-169577080
32 DYNC2H1 NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg) SNV Pathogenic 429025 rs755505546 11:103068737-103068737 11:103198008-103198008
33 NEK1 NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter) SNV Pathogenic 446672 rs985064686 4:170482671-170482671 4:169561520-169561520
34 DYNC2H1 NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) SNV Pathogenic 6506 rs137853030 11:102995926-102995926 11:103125197-103125197
35 DYNC2H1 NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) SNV Pathogenic 6507 rs137853031 11:103055761-103055761 11:103185032-103185032
36 DYNC2H1 NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) SNV Pathogenic 6508 rs137853032 11:103080662-103080662 11:103209933-103209933
37 DYNC2H1 NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) Indel Pathogenic 6509 rs431905498 11:102987301-102987302 11:103116572-103116573
38 DYNC2H1 NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) SNV Pathogenic 30350 rs201479015 11:103191758-103191758 11:103321029-103321029
39 DYNC2H1 NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) SNV Pathogenic 40068 rs397514635 11:103070102-103070102 11:103199373-103199373
40 DYNC2H1 NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) SNV Pathogenic 40070 rs397514637 11:102988581-102988581 11:103117852-103117852
41 BBS10 NM_024685.4(BBS10):c.955_958GTTA[1] (p.Ser320fs) Microsatellite Pathogenic 266102 rs758522600 12:76740803-76740806 12:76347023-76347026
42 DYNLT2B NM_152773.5(DYNLT2B):c.317+4A>T SNV Pathogenic 266107 rs886039815 3:196033810-196033810 3:196306939-196306939
43 DYNC2H1 NC_000011.10:g.103189670_103189677del Deletion Pathogenic 931990 11:103060399-103060406 11:103189670-103189677
44 DYNC2H1 NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) SNV Pathogenic 437419 rs1178331074 11:102999734-102999734 11:103129005-103129005
45 EVC NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) Microsatellite Pathogenic 446661 rs755381180 4:5747030-5747032 4:5745303-5745305
46 NEK1 NM_012224.3(NEK1):c.214+1G>A SNV Pathogenic 266055 rs1049502301 4:170523158-170523158 4:169602007-169602007
47 EVC NM_153717.3(EVC):c.1886+5G>T SNV Pathogenic 5338 rs794726665 4:5795449-5795449 4:5793722-5793722
48 DYNC2H1 NM_001377.3(DYNC2H1):c.10042+2T>G SNV Pathogenic 446536 rs1261505725 11:103116105-103116105 11:103245376-103245376
49 DYNC2H1 NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) SNV Pathogenic 369661 rs771487311 11:103126259-103126259 11:103255530-103255530
50 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic 3383 rs137852924 4:5642516-5642516 4:5640789-5640789

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

73
# Symbol AA change Variation ID SNP ID
1 NEK1 p.Gly145Arg VAR_069617 rs431905508
2 NEK1 p.Leu253Ser VAR_069618

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
12.46 WDR35 WDR19 TTC21B TRAF3IP1 TCTN3 TCTN2
2
Show member pathways
12.3 WDR35 WDR19 TTC21B IFT172 FUZ EVC2
3 10.84 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172

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 cytoskeleton GO:0005856 10.07 WDR35 WDR19 TTC21B TRAF3IP1 TCTN2 TCTN1
2 cell projection GO:0042995 9.97 WDR35 WDR19 TTC21B TRAF3IP1 TCTN2 TCTN1
3 centrosome GO:0005813 9.95 WDR35 TRAF3IP1 NEK1 IFT80 DYNLT2B CEP120
4 ciliary basal body GO:0036064 9.8 WDR35 TRAF3IP1 IFT80 IFT172 EVC
5 ciliary membrane GO:0060170 9.73 TCTN3 TCTN2 EVC2 EVC
6 axoneme GO:0005930 9.72 WDR35 TRAF3IP1 IFT172 DYNLT2B DYNC2H1
7 ciliary transition zone GO:0035869 9.67 TRAF3IP1 TCTN2 TCTN1
8 intraciliary transport particle B GO:0030992 9.63 TRAF3IP1 IFT80 IFT172
9 cytoplasmic dynein complex GO:0005868 9.54 DYNLT2B DYNC2H1
10 intraciliary transport particle A GO:0030991 9.54 WDR35 WDR19 TTC21B
11 MKS complex GO:0036038 9.52 TCTN2 TCTN1
12 plasma membrane protein complex GO:0098797 9.51 EVC2 EVC
13 ciliary tip GO:0097542 9.5 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
14 cilium GO:0005929 9.36 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172

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 cell projection organization GO:0030030 9.91 WDR35 WDR19 TRAF3IP1 TCTN3 TCTN2 TCTN1
2 non-motile cilium assembly GO:1905515 9.77 IFT80 IFT172 FUZ DYNC2H1 BBS10
3 intraciliary retrograde transport GO:0035721 9.72 WDR35 WDR19 TTC21B DYNLT2B DYNC2H1
4 ciliary basal body-plasma membrane docking GO:0097711 9.71 TCTN3 TCTN2 TCTN1
5 regulation of smoothened signaling pathway GO:0008589 9.71 TTC21B TCTN1 IFT172 FUZ
6 intraciliary transport involved in cilium assembly GO:0035735 9.7 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
7 positive regulation of smoothened signaling pathway GO:0045880 9.67 IFT172 EVC DYNC2H1
8 protein localization to cilium GO:0061512 9.65 WDR35 TTC21B DYNC2H1
9 intraciliary transport GO:0042073 9.63 WDR35 TRAF3IP1 IFT172
10 spinal cord motor neuron differentiation GO:0021522 9.56 IFT172 DYNC2H1
11 smoothened signaling pathway GO:0007224 9.56 WDR19 TTC21B TCTN3 TCTN2 IFT80 IFT172
12 positive regulation of cilium assembly GO:0045724 9.55 FUZ CEP120
13 neural tube formation GO:0001841 9.52 TCTN1 IFT172
14 protein localization to ciliary transition zone GO:1904491 9.51 TCTN2 TCTN1
15 regulation of intraciliary retrograde transport GO:1905799 9.43 TTC21B DYNLT2B
16 cilium assembly GO:0060271 9.4 WDR35 WDR19 TRAF3IP1 TCTN3 TCTN2 TCTN1

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 8.62 DYNLT2B DYNC2H1

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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