SRTD6
MCID: SHR069
MIFTS: 55

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 56 12 52 73 15
Majewski Syndrome 56 12 52 73 71
Short Rib-Polydactyly Syndrome, Majewski Type 52 58 29 6
Srps2a 56 12 73
Srtd6 56 12 73
Polydactyly with Neonatal Chondrodystrophy, Type Ii 56 12
Short Rib-Polydactyly Syndrome, Type Iia 56 13
Short Rib-Polydactyly Syndrome Type Iia 12 73
Short Rib-Polydactyly Syndrome Type Ii 52 73
Short Rib-Polydactyly Syndrome Type 2 52 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 52
Short Rib-Polydactyly Syndrome, Type Iia; Srps2a 56
Short Rib-Polydactyly Syndrome Majewski Type 52
Short Rib-Polydactyly Syndrome, Type Ii 56
Short Rib-Polydactyly Syndrome 2a 73
Srps, Type Ii 56
Srps Type Ii 73
Srps Type 2 52

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:

56
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 : 56 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 orofaciodigital syndrome iv and short rib-polydactyly 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 Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include bone, kidney 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 : 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 114)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome iv 33.7 TMEM216 TCTN3 OFD1 DYNC2I1
2 short rib-polydactyly syndrome 31.3 WDR35 TTC21B NEK1 IFT43 DYNC2I1 DYNC2H1
3 short-rib thoracic dysplasia 3 with or without polydactyly 31.2 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
4 chromosome 2q35 duplication syndrome 30.9 TMEM216 OFD1 EVC
5 orofaciodigital syndrome 30.7 TMEM216 TCTN3 TCTN1 OFD1 IFT80 EVC
6 polydactyly 30.5 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
7 orofaciodigital syndrome vi 30.3 TMEM216 TCTN3 TCTN2 TCTN1 OFD1 CEP120
8 brachydactyly 30.2 WDR35 WDR19 OFD1 IFT43 IFT122
9 cleft lip/palate 29.6 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
10 ellis-van creveld syndrome 28.7 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 OFD1
11 joubert syndrome 1 28.6 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN3
12 lenz-majewski hyperostotic dwarfism 12.3
13 zerres rietschel majewski syndrome 12.3
14 bosma arhinia microphthalmia syndrome 11.2
15 short-rib thoracic dysplasia 10 with or without polydactyly 10.7
16 anodontia 10.5 EVC2 EVC
17 short-rib thoracic dysplasia 8 with or without polydactyly 10.5 DYNC2I1 DYNC2H1
18 short-rib thoracic dysplasia 11 with or without polydactyly 10.5 DYNC2I1 DYNC2H1
19 nephronophthisis 13 10.5 WDR19 TTC21B
20 orofaciodigital syndrome v 10.5 TCTN3 TCTN1 OFD1
21 simpson-golabi-behmel syndrome, type 1 10.5 OFD1 IFT172
22 acrofacial dysostosis 10.5 WDR35 IFT80 EVC2 EVC
23 oculoauricular syndrome 10.5 EVC2 EVC
24 short-rib thoracic dysplasia 4 with or without polydactyly 10.5 WDR35 TTC21B DYNC2I1
25 joubert syndrome 7 10.4 TRAF3IP1 TMEM216 OFD1
26 bone development disease 10.4 IFT80 EVC2 EVC DYNC2H1
27 physical disorder 10.4 OFD1 EVC DYNC2H1
28 short-rib thoracic dysplasia 2 with or without polydactyly 10.4 WDR19 TTC21B IFT80 DYNC2H1
29 nephronophthisis 11 10.4 TTC21B TMEM216
30 meckel syndrome, type 8 10.4 TMEM216 TCTN2
31 nephronophthisis 12 10.4 WDR19 TTC21B
32 joubert syndrome 10 10.4 TMEM216 TCTN2 OFD1
33 nephronophthisis 2 10.4 TTC21B TMEM216 OFD1
34 joubert syndrome 9 10.4 TMEM216 OFD1
35 joubert syndrome 2 10.4 TMEM216 TCTN2 OFD1
36 joubert syndrome 5 10.4 TMEM216 TCTN2 OFD1
37 joubert syndrome 8 10.4 TMEM216 TCTN1 OFD1
38 meckel syndrome, type 5 10.4 TMEM216 TCTN2 TCTN1
39 meckel syndrome, type 6 10.4 TMEM216 TCTN2 TCTN1
40 short-rib thoracic dysplasia 5 with or without polydactyly 10.4 WDR35 WDR19 TTC21B IFT122
41 arachnoid cysts, intracranial 10.4
42 pachygyria 10.4
43 cleft lip 10.4
44 dwarfism 10.4
45 apraxia 10.4 TMEM216 TCTN2 TCTN1
46 tooth agenesis 10.3 WDR35 OFD1 EVC2 EVC
47 meckel syndrome, type 4 10.3 TMEM216 TCTN2
48 acrocallosal syndrome 10.3 TMEM216 TCTN3 OFD1 IFT80
49 nephronophthisis 14 10.3 TCTN2 TCTN1
50 clouston syndrome 10.3 EVC2 EVC

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:

56
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

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

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.38 CEP120 DYNC2H1 EVC EVC2 FUZ IFT122
2 embryo MP:0005380 10.28 CEP120 DYNC2H1 DYNC2I1 FUZ IFT122 IFT172
3 craniofacial MP:0005382 10.27 DYNC2H1 EVC EVC2 FUZ IFT122 IFT172
4 cardiovascular system MP:0005385 10.24 CEP120 DYNC2H1 DYNC2I1 FUZ IFT122 IFT172
5 growth/size/body region MP:0005378 10.21 CEP120 DYNC2H1 DYNC2I1 EVC EVC2 FUZ
6 mortality/aging MP:0010768 10.21 CEP120 DYNC2H1 DYNC2I1 EVC EVC2 FUZ
7 limbs/digits/tail MP:0005371 10.2 DYNC2H1 EVC EVC2 FUZ IFT122 IFT172
8 digestive/alimentary MP:0005381 10.03 DYNC2H1 FUZ IFT122 IFT172 OFD1 TCTN2
9 nervous system MP:0003631 10 CEP120 DYNC2H1 FUZ IFT122 IFT172 IFT43
10 skeleton MP:0005390 9.7 DYNC2H1 EVC EVC2 FUZ IFT172 IFT80
11 vision/eye MP:0005391 9.28 DYNC2H1 FUZ IFT122 IFT172 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:

40
Bone, Kidney, Pancreas, Liver, Eye, 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 top 50) (show all 61)
# Title Authors PMID Year
1
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 6 56
28123176 2017
2
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 6 56
25492405 2015
3
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 6 56
22499340 2012
4
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 56 6
21211617 2011
5
Ciliary disorder of the skeleton. 61 56
22791528 2012
6
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 56 61
3608220 1987
7
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes. 61 56
6467657 1984
8
Ocular pathology of the Majewski syndrome. 56 61
7126521 1982
9
Short rib-polydactyly syndrome, Majewski type, in two male siblings. 61 56
478536 1979
10
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 56
24183451 2013
11
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
12
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 6
19442771 2009
13
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 6
19361615 2009
14
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. 56
8599362 1995
15
Oral-facial-skeletal syndromes. 56
8599363 1995
16
Chromosome 4p16 and osteochondroplasias. 56
8054971 1994
17
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. 56
7909650 1994
18
Brief clinical report: short rib-polydactyly syndrome, Majewski type. 56
6859096 1983
19
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. 56
7100463 1982
20
Short rib-polydactyly syndrome, Majewski type. 56
7468649 1980
21
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. 56
4816160 1974
22
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. 56
4331366 1971
23
Lenz-Majewski syndrome in a patient from Egypt. 61
31403251 2019
24
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. 61
31231513 2019
25
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 61
29341480 2018
26
Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy. 61
27126916 2017
27
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 61
27044099 2016
28
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. 61
30854527 2016
29
Craniovertebral junction stenosis in Lenz-Majewski syndrome. 61
25779830 2015
30
Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene. 61
26117586 2015
31
Tectonic gene mutations in patients with Joubert syndrome. 61
25118024 2015
32
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
33
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 61
24854045 2014
34
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 61
25587461 2014
35
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 61
24241535 2014
36
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 61
23459408 2013
37
TCTN3 mutations cause Mohr-Majewski syndrome. 61
22883145 2012
38
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 61
20607029 2010
39
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 61
18383484 2008
40
Skeletal dysplasias: 38 prenatal cases. 61
18990981 2008
41
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 61
17535085 2007
42
A Japanese patient with a mild Lenz-Majewski syndrome. 61
17593321 2007
43
Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus. 61
15194948 2004
44
Prenatal sonographic diagnosis of Majewski syndrome. 61
12116111 2002
45
Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs. 61
10422014 1999
46
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. 61
9605285 1998
47
Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. 61
9555586 1998
48
Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. 61
9215775 1997
49
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
50
Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. 61
7981861 1994

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 166) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_012224.3(NEK1):c.214+1G>ASNV other 266055 rs1049502301 4:170523158-170523158 4:169602007-169602007
2 NEK1 NM_012224.3(NEK1):c.869-1G>TSNV Pathogenic 193892 rs794727032 4:170498231-170498231 4:169577080-169577080
3 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter)SNV Pathogenic 3383 rs137852924 4:5642516-5642516 4:5640789-5640789
4 EVC NM_153717.3(EVC):c.1886+5G>TSNV Pathogenic 5338 rs794726665 4:5795449-5795449 4:5793722-5793722
5 EVC NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)SNV Pathogenic 5340 rs121908425 4:5749953-5749953 4:5748226-5748226
6 NEK1 NM_012224.3(NEK1):c.379C>T (p.Arg127Ter)SNV Pathogenic 30428 rs387906890 4:170511894-170511894 4:169590743-169590743
7 NEK1 NM_012224.3(NEK1):c.869-2A>GSNV Pathogenic 30429 rs483352906 4:170498232-170498232 4:169577081-169577081
8 NEK1 NM_012224.3(NEK1):c.433G>A (p.Gly145Arg)SNV Pathogenic 40072 rs431905508 4:170510629-170510629 4:169589478-169589478
9 TRAF3IP1 NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys)SNV Pathogenic 446655 rs769651861 2:239233992-239233992 2:238325351-238325351
10 TRAF3IP1 NM_015650.4(TRAF3IP1):c.988-1G>CSNV Pathogenic 446656 rs372499275 2:239242600-239242600 2:238333959-238333959
11 IFT172 NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)duplication Pathogenic 446697 rs750338419 2:27682266-27682267 2:27459399-27459400
12 NEK1 NM_012224.3(NEK1):c.1784del (p.Ser595fs)deletion Pathogenic 446671 rs1362848762 4:170428909-170428909 4:169507758-169507758
13 NEK1 NM_012224.3(NEK1):c.1685_1686del (p.Arg562fs)deletion Pathogenic 446670 rs1554053289 4:170429462-170429463 4:169508311-169508312
14 NEK1 NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter)SNV Pathogenic 446667 rs758677637 4:170459007-170459007 4:169537856-169537856
15 NEK1 NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter)SNV Pathogenic 446672 rs985064686 4:170482671-170482671 4:169561520-169561520
16 NEK1 NM_012224.3(NEK1):c.599_602del (p.Lys200fs)deletion Pathogenic 446668 rs1554075284 4:170508714-170508717 4:169587563-169587566
17 EVC2 NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)SNV Pathogenic 446664 rs769864196 4:5633522-5633522 4:5631795-5631795
18 TTC21B NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)SNV Pathogenic 446649 rs79746977 2:166764256-166764256 2:165907746-165907746
19 TTC21B NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp)SNV Pathogenic 446648 rs1553516687 2:166806125-166806125 2:165949615-165949615
20 NEK1 NM_001199397.2(NEK1):c.2886-1G>ASNV Pathogenic 446669 rs773496891 4:170347386-170347386 4:169426235-169426235
21 FUZ NM_025129.5(FUZ):c.98_111+9deldeletion Pathogenic 446675 rs548706733 19:50316244-50316266 19:49812987-49813009
22 DYNC2H1 NM_001377.3(DYNC2H1):c.10042+2T>GSNV Pathogenic 446536 rs1261505725 11:103116105-103116105 11:103245376-103245376
23 NEK1 NM_012224.3(NEK1):c.514C>T (p.Pro172Ser)SNV Pathogenic 545534 rs1554075506 4:170509837-170509837 4:169588686-169588686
24 NEK1 NM_012224.3(NEK1):c.3746A>C (p.Asp1249Ala)SNV Pathogenic 545536 rs1157065841 4:170321393-170321393 4:169400242-169400242
25 NEK1 NM_001199397.3(NEK1):c.2190del (p.Asn731fs)deletion Pathogenic 848105 4:170398598-170398598 4:169477447-169477447
26 EVC NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)SNV Pathogenic/Likely pathogenic 446662 rs748523193 4:5731096-5731096 4:5729369-5729369
27 NEK1 NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)SNV Pathogenic/Likely pathogenic 208600 rs199947197 4:170345819-170345819 4:169424668-169424668
28 EVC NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del)short repeat Likely pathogenic 446661 rs755381180 4:5747030-5747032 4:5745303-5745305
29 NEK1 NM_012224.3(NEK1):c.2726_2729CAAA[1] (p.Asn910fs)short repeat Likely pathogenic 446673 rs752878896 4:170354764-170354767 4:169433613-169433616
30 NEK1 NM_012224.3(NEK1):c.1908del (p.Val637fs)deletion Likely pathogenic 446686 rs775849720 4:170428203-170428203 4:169507052-169507052
31 TTC21B NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer)insertion Likely pathogenic 446699 rs759648976 2:166810196-166810197 2:165953686-165953687
32 DYNC2H1 NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)SNV Likely pathogenic 369661 rs771487311 11:103126259-103126259 11:103255530-103255530
33 IFT80 NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)SNV Conflicting interpretations of pathogenicity 406218 rs138004478 3:160073857-160073857 3:160356069-160356069
34 WDR35 NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)SNV Conflicting interpretations of pathogenicity 431796 rs765513105 2:20182232-20182232 2:19982471-19982471
35 NEK1 NM_012224.3(NEK1):c.924T>G (p.Ile308Met)SNV Conflicting interpretations of pathogenicity 618246 rs10034957 4:170498175-170498175 4:169577024-169577024
36 NEK1 NM_012224.3(NEK1):c.1063A>G (p.Arg355Gly)SNV Conflicting interpretations of pathogenicity 642879 4:170483305-170483305 4:169562154-169562154
37 NEK1 NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)SNV Conflicting interpretations of pathogenicity 729773 4:170459008-170459008 4:169537857-169537857
38 NEK1 NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)SNV Conflicting interpretations of pathogenicity 733576 4:170520286-170520286 4:169599135-169599135
39 NEK1 NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)SNV Conflicting interpretations of pathogenicity 744552 4:170345791-170345791 4:169424640-169424640
40 NEK1 NM_012224.3(NEK1):c.2222A>G (p.His741Arg)SNV Conflicting interpretations of pathogenicity 266050 rs375173827 4:170398403-170398403 4:169477252-169477252
41 NEK1 NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys)SNV Conflicting interpretations of pathogenicity 266051 rs34324114 4:170398474-170398474 4:169477323-169477323
42 NEK1 NM_012224.3(NEK1):c.2053G>A (p.Val685Met)SNV Conflicting interpretations of pathogenicity 266049 rs199827465 4:170400556-170400556 4:169479405-169479405
43 NEK1 NM_012224.3(NEK1):c.1666-5T>CSNV Conflicting interpretations of pathogenicity 266056 rs199522035 4:170429487-170429487 4:169508336-169508336
44 NEK1 NM_012224.3(NEK1):c.1021G>A (p.Ala341Thr)SNV Conflicting interpretations of pathogenicity 266046 rs189186475 4:170483347-170483347 4:169562196-169562196
45 NEK1 NM_012224.3(NEK1):c.782G>A (p.Arg261His)SNV Conflicting interpretations of pathogenicity 199125 rs200161705 4:170506525-170506525 4:169585374-169585374
46 NEK1 NM_012224.3(NEK1):c.3327G>A (p.Leu1109=)SNV Conflicting interpretations of pathogenicity 283367 rs56077602 4:170322975-170322975 4:169401824-169401824
47 WDR35 NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)SNV Conflicting interpretations of pathogenicity 288569 rs143343508 2:20166496-20166496 2:19966735-19966735
48 NEK1 NM_012224.3(NEK1):c.3538G>A (p.Asp1180Asn)SNV Conflicting interpretations of pathogenicity 348090 rs35503975 4:170321764-170321764 4:169400613-169400613
49 NEK1 NM_012224.3(NEK1):c.2337C>T (p.Phe779=)SNV Conflicting interpretations of pathogenicity 348103 rs56346829 4:170398288-170398288 4:169477137-169477137
50 NEK1 NM_012224.3(NEK1):c.686A>G (p.Tyr229Cys)SNV Conflicting interpretations of pathogenicity 348120 rs61737748 4:170506621-170506621 4:169585470-169585470

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
12.39 WDR35 WDR19 TTC21B OFD1 IFT172 IFT122
2
Show member pathways
12.23 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN3
3 11.27 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT43

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 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN2
2 cilium GO:0005929 10 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 OFD1
3 ciliary tip GO:0097542 9.96 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT43
4 centrosome GO:0005813 9.95 WDR35 TRAF3IP1 OFD1 NEK1 IFT80 DYNC2I1
5 ciliary basal body GO:0036064 9.91 WDR35 TRAF3IP1 OFD1 IFT80 IFT172 IFT122
6 microtubule organizing center GO:0005815 9.89 WDR35 OFD1 NEK1 CEP120
7 cell projection GO:0042995 9.89 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN2
8 axoneme GO:0005930 9.81 WDR35 TRAF3IP1 IFT172 DYNC2H1
9 motile cilium GO:0031514 9.76 WDR19 OFD1 DYNC2H1
10 ciliary membrane GO:0060170 9.76 TCTN3 TCTN2 EVC2 EVC
11 centriolar satellite GO:0034451 9.73 OFD1 NEK1 IFT43
12 intraciliary transport particle A GO:0030991 9.72 WDR35 WDR19 TTC21B IFT43 IFT122
13 ciliary base GO:0097546 9.71 TRAF3IP1 IFT122 DYNC2I1
14 ciliary transition zone GO:0035869 9.7 TRAF3IP1 TMEM216 TCTN1
15 intraciliary transport particle B GO:0030992 9.67 TRAF3IP1 IFT80 IFT172
16 MKS complex GO:0036038 9.65 TMEM216 TCTN2 TCTN1
17 cytoplasmic dynein complex GO:0005868 9.58 DYNC2I1 DYNC2H1
18 pericentriolar material GO:0000242 9.57 NEK1 DYNC2I1
19 plasma membrane protein complex GO:0098797 9.55 EVC2 EVC
20 cytoskeleton GO:0005856 9.55 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.92 WDR19 TTC21B TCTN3 TCTN2 IFT80 IFT172
2 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM216 TCTN3 TCTN2 TCTN1 OFD1
3 non-motile cilium assembly GO:1905515 9.85 TMEM216 IFT80 IFT172 IFT122 FUZ DYNC2H1
4 intraciliary transport involved in cilium assembly GO:0035735 9.85 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT43
5 intraciliary transport GO:0042073 9.8 WDR35 TRAF3IP1 IFT172 IFT122 DYNC2I1
6 cell projection organization GO:0030030 9.8 WDR35 WDR19 TRAF3IP1 TMEM216 TCTN3 TCTN2
7 protein localization to cilium GO:0061512 9.78 WDR35 TTC21B IFT122 DYNC2H1
8 neural tube closure GO:0001843 9.77 IFT172 IFT122 FUZ
9 negative regulation of epithelial cell proliferation GO:0050680 9.75 IFT80 IFT172 IFT122
10 regulation of smoothened signaling pathway GO:0008589 9.73 TTC21B TCTN1 IFT172 FUZ
11 intraciliary retrograde transport GO:0035721 9.73 WDR35 WDR19 TTC21B IFT43 IFT122 DYNC2H1
12 limb development GO:0060173 9.71 IFT80 IFT172 IFT122
13 dorsal/ventral pattern formation GO:0009953 9.7 IFT172 IFT122 DYNC2H1
14 positive regulation of smoothened signaling pathway GO:0045880 9.69 IFT172 EVC DYNC2H1
15 negative regulation of smoothened signaling pathway GO:0045879 9.63 IFT172 IFT122
16 spinal cord motor neuron differentiation GO:0021522 9.62 IFT172 DYNC2H1
17 embryonic heart tube development GO:0035050 9.62 TRAF3IP1 IFT122
18 embryonic camera-type eye morphogenesis GO:0048596 9.61 IFT172 IFT122
19 positive regulation of cilium assembly GO:0045724 9.61 FUZ CEP120
20 embryonic camera-type eye development GO:0031076 9.6 WDR19 TRAF3IP1
21 neural tube formation GO:0001841 9.58 TCTN1 IFT172
22 protein localization to ciliary transition zone GO:1904491 9.57 TCTN2 TCTN1
23 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.56 WDR19 IFT122
24 embryonic body morphogenesis GO:0010172 9.55 IFT122 FUZ
25 cilium assembly GO:0060271 9.53 WDR35 WDR19 TRAF3IP1 TMEM216 TCTN3 TCTN2
26 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.49 WDR19 IFT122

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....