SRTD6
MCID: SHR069
MIFTS: 57

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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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 11 19 73 28 5 14
Majewski Syndrome 57 11 19 73 71
Short Rib-Polydactyly Syndrome, Majewski Type 19 58 75
Srps2a 57 11 73
Srtd6 57 11 73
Polydactyly with Neonatal Chondrodystrophy, Type Ii 57 11
Short Rib-Polydactyly Syndrome Type Iia 11 73
Short Rib-Polydactyly Syndrome Type Ii 19 73
Short Rib-Polydactyly Syndrome Type 2 19 58
Polydactyly with Neonatal Chondrodystrophy Type Ii 73
Polydactyly with Neonatal Chondrodystrophy Type 2 19
Short Rib-Polydactyly Syndrome Majewski Type 19
Short Rib-Polydactyly Syndrome, Type Iia 57
Short Rib-Polydactyly Syndrome, Type Ii 57
Short Rib-Polydactyly Syndrome 2a 73
Srps, Type Ii 57
Srps Type Ii 73
Srps Type 2 19

Characteristics:


Inheritance:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly: Autosomal recessive 57
Short Rib-Polydactyly Syndrome, Majewski Type: Autosomal recessive 58

Prevelance:

Short Rib-Polydactyly Syndrome, Majewski Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Short Rib-Polydactyly Syndrome, Majewski Type: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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)


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 08-Dec-2022)

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 Signal Transduction and Organelle biogenesis and maintenance. Affiliated tissues include bone, pancreas and tongue, and related phenotypes are brachycephaly and hepatic fibrosis

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.

Orphanet: 58 A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.

Disease Ontology: 11 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the NEK1 gene on chromosome 4q33.

Wikipedia: 75 Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short... more...

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
Short-Rib Thoracic Dysplasia 21 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 32.8 TCTN3 DYNC2I1
2 short rib-polydactyly syndrome 31.6 WDR35 IFT43 DYNC2H1
3 orofaciodigital syndrome 31.0 TMEM216 TCTN3 TCTN2
4 polydactyly 30.7 WDR35 WDR19 TTC21B TMEM216 TCTN3 TCTN2
5 osteochondrodysplasia 30.5 WDR35 WDR19 TTC21B NEK1 IFT80 EVC2
6 chromosome 2q35 duplication syndrome 30.4 WDR35 WDR19 TMEM216 NEK1 IFT43 IFT122
7 cleft lip/palate 30.3 WDR35 DYNC2H1 CEP120
8 short-rib thoracic dysplasia 3 with or without polydactyly 30.3 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
9 brachydactyly 30.2 WDR35 WDR19 IFT43 IFT122
10 ellis-van creveld syndrome 29.5 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 NEK1
11 joubert syndrome 1 29.1 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN3
12 lenz-majewski hyperostotic dwarfism 11.6
13 zerres rietschel majewski syndrome 11.2
14 bosma arhinia microphthalmia syndrome 11.1
15 orofaciodigital syndrome v 10.4 TCTN3 TCTN2
16 achondrogenesis, type ia 10.4 NEK1 DYNC2H1
17 cleft lip 10.4
18 mckusick-kaufman syndrome 10.4 IFT80 EVC2 EVC
19 bone development disease 10.3 IFT80 EVC2 DYNC2H1
20 short-rib thoracic dysplasia 11 with or without polydactyly 10.3 DYNC2I1 DYNC2H1
21 anodontia 10.3 EVC2 EVC
22 joubert syndrome 16 10.3 TMEM216 TCTN3
23 short-rib thoracic dysplasia 10 with or without polydactyly 10.3 IFT172 DYNC2H1
24 acrocallosal syndrome 10.3 TMEM216 TCTN3 IFT80
25 cranioectodermal dysplasia 1 10.3 WDR35 WDR19 IFT122
26 arachnoid cysts, intracranial 10.3
27 lissencephaly 10.3
28 short-rib thoracic dysplasia 8 with or without polydactyly 10.3 DYNC2I1 DYNC2H1
29 joubert syndrome 15 10.3 TMEM216 TCTN2 TCTN1
30 meckel syndrome, type 5 10.3 TMEM216 TCTN2 TCTN1
31 spondylometaphyseal dysplasia, axial 10.3 NEK1 DYNC2I1
32 joubert syndrome 5 10.3 TMEM216 TCTN2 TCTN1
33 joubert syndrome 13 10.3 TTC21B TMEM216 TCTN2 TCTN1
34 nephronophthisis 18 10.3 WDR19 TRAF3IP1
35 tooth agenesis 10.3 WDR35 IFT122 EVC2 EVC
36 oculoauricular syndrome 10.3 EVC2 EVC
37 hydrolethalus syndrome 1 10.3 WDR35 WDR19 TTC21B TCTN2 IFT80
38 joubert syndrome 17 10.3 WDR35 TTC21B IFT43 IFT122 FUZ
39 apraxia 10.2 TMEM216 TCTN3 TCTN2 TCTN1
40 short-rib thoracic dysplasia 7 with or without polydactyly 10.2 WDR35 WDR19 TTC21B IFT122 DYNC2I1
41 short-rib thoracic dysplasia 5 with or without polydactyly 10.2 WDR35 WDR19 TTC21B IFT43 IFT122
42 short-rib thoracic dysplasia 4 with or without polydactyly 10.2 WDR35 WDR19 TTC21B IFT122 DYNC2I1
43 coach syndrome 1 10.2 TTC21B TMEM216 TCTN3 TCTN2 TCTN1
44 retinal degeneration 10.2 TTC21B IFT43 IFT172 DYNC2I1 DYNC2H1
45 craniosynostosis 10.2 WDR35 WDR19 IFT43 IFT122
46 nephronophthisis 12 10.2 WDR19 TTC21B
47 coloboma of macula 10.2 TTC21B TMEM216 TCTN3 TCTN2 TCTN1
48 polycystic kidney disease 1 with or without polycystic liver disease 10.2
49 polydactyly, postaxial, type a1 10.2
50 polydactyly, preaxial iv 10.2

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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 limbs/digits/tail MP:0005371 10.35 DYNC2H1 EVC EVC2 FUZ IFT122 IFT172
2 nervous system MP:0003631 10.34 CEP120 DYNC2H1 EVC2 FUZ IFT122 IFT172
3 growth/size/body region MP:0005378 10.3 CEP120 DYNC2H1 DYNC2I1 EVC EVC2 FUZ
4 embryo MP:0005380 10.28 CEP120 DYNC2H1 DYNC2I1 FUZ IFT122 IFT172
5 cellular MP:0005384 10.2 CEP120 DYNC2H1 EVC EVC2 FUZ IFT122
6 craniofacial MP:0005382 10.15 DYNC2H1 EVC EVC2 FUZ IFT122 IFT172
7 digestive/alimentary MP:0005381 10.06 DYNC2H1 DYNC2I1 EVC2 FUZ IFT122 IFT172
8 cardiovascular system MP:0005385 10.03 CEP120 DYNC2H1 DYNC2I1 EVC2 FUZ IFT122
9 skeleton MP:0005390 9.9 CEP120 DYNC2H1 EVC EVC2 FUZ IFT172
10 vision/eye MP:0005391 9.7 DYNC2H1 FUZ IFT122 IFT172 IFT80 NEK1
11 mortality/aging MP:0010768 9.55 CEP120 DYNC2H1 DYNC2I1 EVC EVC2 FUZ

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 Thoracic Dysplasia 6 with or Without Polydactyly 28 NEK1

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

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

MalaCards : Bone, Pancreas, Tongue, Liver, Eye, Heart, Brain
ODiseA: Respiratory System-Lung, Respiratory System, Kidney

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 79)
# Title Authors PMID Year
1
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 62 57 5
21211617 2011
2
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 57 5
28123176 2017
3
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 57 5
25492405 2015
4
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 57 5
22499340 2012
5
Ciliary disorder of the skeleton. 62 57
22791528 2012
6
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. 62 57
3608220 1987
7
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes. 62 57
6467657 1984
8
Brief clinical report: short rib-polydactyly syndrome, Majewski type. 62 57
6859096 1983
9
Ocular pathology of the Majewski syndrome. 62 57
7126521 1982
10
Short rib-polydactyly syndrome, Majewski type. 62 57
7468649 1980
11
Short rib-polydactyly syndrome, Majewski type, in two male siblings. 62 57
478536 1979
12
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India. 5
30408610 2019
13
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 5
29068549 2018
14
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). 5
27530628 2016
15
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
16
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
17
Oral-facial-skeletal syndromes. 57
8599363 1995
18
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. 57
8599362 1995
19
Chromosome 4p16 and osteochondroplasias. 57
8054971 1994
20
Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. 57
7909650 1994
21
Niemann-Pick disease type C. Skin biopsies in parents. 5
3014367 1986
22
Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. 57
7100463 1982
23
Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. 57
4816160 1974
24
[Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. 57
4331366 1971
25
Topology of phosphatidylserine synthase 1 in the endoplasmic reticulum membrane. 62
34516042 2021
26
Lenz-Majewski syndrome in a patient from Egypt. 62
31403251 2019
27
Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages. 62
31231513 2019
28
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. 62
29341480 2018
29
Frederik Ruysch (1638-1731): Historical perspective and contemporary analysis of his teratological legacy. 62
27126916 2017
30
Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions. 62
27044099 2016
31
Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism. 62
30854527 2016
32
Craniovertebral junction stenosis in Lenz-Majewski syndrome. 62
25779830 2015
33
Lenz-Majewski syndrome: Report of a case with novel mutation inĀ PTDSS1 gene. 62
26117586 2015
34
Tectonic gene mutations in patients with Joubert syndrome. 62
25118024 2015
35
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 62
25178427 2015
36
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 62
24854045 2014
37
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome). 62
25587461 2014
38
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 62
24241535 2014
39
Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. 62
23459408 2013
40
TCTN3 mutations cause Mohr-Majewski syndrome. 62
22883145 2012
41
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. 62
22482978 2012
42
A short rib polydactyly syndrome overlapping both lethal and nonlethal types. 62
22876582 2012
43
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 62
20607029 2010
44
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 62
19522446 2009
45
Orofaciodigital syndrome Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. 62
18383484 2008
46
Skeletal dysplasias: 38 prenatal cases. 62
18990981 2008
47
Short rib polydactyly syndrome - type 2 (Majewski). 62
18057685 2007
48
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome): report of a family with two affected siblings. 62
17535085 2007
49
A Japanese patient with a mild Lenz-Majewski syndrome. 62
17593321 2007
50
Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. 62
16479085 2006

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:

5 (show top 50) (show all 318)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK1 NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter) SNV Pathogenic
30428 rs387906890 GRCh37: 4:170511894-170511894
GRCh38: 4:169590743-169590743
2 NEK1 NM_001199397.3(NEK1):c.869-2A>G SNV Pathogenic
30429 rs483352906 GRCh37: 4:170498232-170498232
GRCh38: 4:169577081-169577081
3 NEK1 NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg) SNV Pathogenic
40072 rs431905508 GRCh37: 4:170510629-170510629
GRCh38: 4:169589478-169589478
4 NEK1 NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser) SNV Pathogenic
545534 rs1554075506 GRCh37: 4:170509837-170509837
GRCh38: 4:169588686-169588686
5 NEK1 NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala) SNV Pathogenic
545536 rs1157065841 GRCh37: 4:170321393-170321393
GRCh38: 4:169400242-169400242
6 NEK1 NM_001199397.3(NEK1):c.213del (p.Glu72fs) DEL Pathogenic
1338755 GRCh37: 4:170523160-170523160
GRCh38: 4:169602009-169602009
7 NEK1 NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) SNV Pathogenic
996748 rs1732670701 GRCh37: 4:170327784-170327784
GRCh38: 4:169406633-169406633
8 NEK1 NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs) INSERT Pathogenic
1380607 GRCh37: 4:170345934-170345935
GRCh38: 4:169424783-169424784
9 NEK1 NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs) MICROSAT Pathogenic
1385116 GRCh37: 4:170347298-170347299
GRCh38: 4:169426147-169426148
10 NEK1 NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter) SNV Pathogenic
1323355 GRCh37: 4:170400604-170400604
GRCh38: 4:169479453-169479453
11 NEK1 NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) SNV Pathogenic
1332832 GRCh37: 4:170428238-170428238
GRCh38: 4:169507087-169507087
12 NEK1 NM_001199397.3(NEK1):c.1984dup (p.Glu662fs) DUP Pathogenic
1418443 GRCh37: 4:170428210-170428211
GRCh38: 4:169507059-169507060
13 NEK1 NM_001199397.3(NEK1):c.602del (p.His201fs) DEL Pathogenic
1458767 GRCh37: 4:170508714-170508714
GRCh38: 4:169587563-169587563
14 NEK1 NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter) SNV Pathogenic
1453965 GRCh37: 4:170482994-170482994
GRCh38: 4:169561843-169561843
15 NEK1 NM_001199397.3(NEK1):c.934del (p.Ala312fs) DEL Pathogenic
1455845 GRCh37: 4:170498165-170498165
GRCh38: 4:169577014-169577014
16 NEK1 NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter) SNV Pathogenic
1526104 GRCh37: 4:170345735-170345735
GRCh38: 4:169424584-169424584
17 NEK1 NM_001199397.3(NEK1):c.2190del (p.Asn731fs) DEL Pathogenic
848105 rs746591648 GRCh37: 4:170398598-170398598
GRCh38: 4:169477447-169477447
18 NEK1 NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter) DUP Pathogenic
944996 rs1758763118 GRCh37: 4:170459040-170459041
GRCh38: 4:169537889-169537890
19 NEK1 NM_001199397.3(NEK1):c.984del (p.Lys328fs) DEL Pathogenic
1698378 GRCh37: 4:170498115-170498115
GRCh38: 4:169576964-169576964
20 NEK1 NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) SNV Pathogenic
495120 rs371575563 GRCh37: 4:170458977-170458977
GRCh38: 4:169537826-169537826
21 NEK1 NM_001199397.3(NEK1):c.869-1G>T SNV Pathogenic
193892 rs794727032 GRCh37: 4:170498231-170498231
GRCh38: 4:169577080-169577080
22 NEK1 NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) SNV Pathogenic
Pathogenic/Likely Pathogenic
208600 rs199947197 GRCh37: 4:170345819-170345819
GRCh38: 4:169424668-169424668
23 DYNC2H1 NM_001377.3(DYNC2H1):c.10042+2T>G SNV Pathogenic/Likely Pathogenic
446536 rs1261505725 GRCh37: 11:103116105-103116105
GRCh38: 11:103245376-103245376
24 DYNC2H1 NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) SNV Pathogenic/Likely Pathogenic
369661 rs771487311 GRCh37: 11:103126259-103126259
GRCh38: 11:103255530-103255530
25 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) SNV Pathogenic/Likely Pathogenic
406218 rs138004478 GRCh37: 3:160073857-160073857
GRCh38: 3:160356069-160356069
26 NEK1 NM_001199397.3(NEK1):c.214+1G>A SNV Pathogenic/Likely Pathogenic
266055 rs1049502301 GRCh37: 4:170523158-170523158
GRCh38: 4:169602007-169602007
27 EVC NM_153717.3(EVC):c.1886+5G>T SNV Pathogenic/Likely Pathogenic
5338 rs794726665 GRCh37: 4:5795449-5795449
GRCh38: 4:5793722-5793722
28 EVC2 NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) SNV Pathogenic/Likely Pathogenic
446664 rs769864196 GRCh37: 4:5633522-5633522
GRCh38: 4:5631795-5631795
29 EVC NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) MICROSAT Pathogenic/Likely Pathogenic
446661 rs755381180 GRCh37: 4:5747030-5747032
GRCh38: 4:5745303-5745305
30 EVC NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) SNV Pathogenic/Likely Pathogenic
5340 rs121908425 GRCh37: 4:5749953-5749953
GRCh38: 4:5748226-5748226
31 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic/Likely Pathogenic
3383 rs137852924 GRCh37: 4:5642516-5642516
GRCh38: 4:5640789-5640789
32 EVC NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) SNV Pathogenic/Likely Pathogenic
446662 rs748523193 GRCh37: 4:5731096-5731096
GRCh38: 4:5729369-5729369
33 TRAF3IP1 NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) SNV Pathogenic/Likely Pathogenic
446655 rs769651861 GRCh37: 2:239233992-239233992
GRCh38: 2:238325351-238325351
34 NEK1 NM_001199397.3(NEK1):c.2886-1G>A SNV Pathogenic/Likely Pathogenic
446669 rs773496891 GRCh37: 4:170347386-170347386
GRCh38: 4:169426235-169426235
35 NEK1 NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) SNV Pathogenic/Likely Pathogenic
446667 rs758677637 GRCh37: 4:170459007-170459007
GRCh38: 4:169537856-169537856
36 NEK1 NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) DEL Pathogenic/Likely Pathogenic
446670 rs1554053289 GRCh37: 4:170429462-170429463
GRCh38: 4:169508311-169508312
37 FUZ NM_025129.5(FUZ):c.98_111+9del DEL Pathogenic/Likely Pathogenic
446675 rs548706733 GRCh37: 19:50316244-50316266
GRCh38: 19:49812987-49813009
38 NEK1 NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) MICROSAT Pathogenic/Likely Pathogenic
446673 rs752878896 GRCh37: 4:170354764-170354767
GRCh38: 4:169433613-169433616
39 TTC21B NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) SNV Pathogenic/Likely Pathogenic
446648 rs1553516687 GRCh37: 2:166806125-166806125
GRCh38: 2:165949615-165949615
40 NEK1 NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) DEL Pathogenic/Likely Pathogenic
446668 rs1554075284 GRCh37: 4:170508714-170508717
GRCh38: 4:169587563-169587566
41 TRAF3IP1 NM_015650.4(TRAF3IP1):c.988-1G>C SNV Pathogenic/Likely Pathogenic
446656 rs372499275 GRCh37: 2:239242600-239242600
GRCh38: 2:238333959-238333959
42 NEK1 NM_001199397.3(NEK1):c.1868del (p.Ser623fs) DEL Pathogenic/Likely Pathogenic
446671 rs1362848762 GRCh37: 4:170428909-170428909
GRCh38: 4:169507758-169507758
43 TTC21B NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) SNV Pathogenic/Likely Pathogenic
446649 rs79746977 GRCh37: 2:166764256-166764256
GRCh38: 2:165907746-165907746
44 TTC21B NM_024753.5(TTC21B):c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) INSERT Likely Pathogenic
446699 rs759648976 GRCh37: 2:166810196-166810197
GRCh38: 2:165953686-165953687
45 NEK1 NM_001199397.3(NEK1):c.1992del (p.Val665fs) DEL Likely Pathogenic
446686 rs775849720 GRCh37: 4:170428203-170428203
GRCh38: 4:169507052-169507052
46 NEK1 NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs) DEL Likely Pathogenic
1678579 GRCh37: 4:170321452-170321462
GRCh38: 4:169400301-169400311
47 IFT172 NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) DUP Likely Pathogenic
446697 rs750338419 GRCh37: 2:27682266-27682267
GRCh38: 2:27459399-27459400
48 NEK1 NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His) SNV Likely Pathogenic
1332841 GRCh37: 4:170322995-170322995
GRCh38: 4:169401844-169401844
49 NEK1 NM_001199397.3(NEK1):c.893del (p.Asn298fs) DEL Likely Pathogenic
930942 rs1765802748 GRCh37: 4:170498206-170498206
GRCh38: 4:169577055-169577055
50 NEK1 NM_001199397.3(NEK1):c.117+1G>A SNV Likely Pathogenic
195286 rs794727285 GRCh37: 4:170523664-170523664
GRCh38: 4:169602513-169602513

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

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 cytoplasm GO:0005737 10.67 CEP120 DYNC2H1 DYNC2I1 EVC EVC2 FUZ
2 cilium GO:0005929 10.4 DYNC2I1 DYNC2H1 WDR35 WDR19 TTC21B TRAF3IP1
3 centrosome GO:0005813 10.29 WDR35 TRAF3IP1 NEK1 IFT80 DYNC2I1 CEP120
4 ciliary basal body GO:0036064 10.15 WDR35 TRAF3IP1 IFT80 IFT172 IFT122 EVC
5 axoneme GO:0005930 10.1 DYNC2H1 IFT172 TRAF3IP1 WDR35
6 ciliary membrane GO:0060170 10.06 TCTN3 TCTN2 EVC2 EVC
7 cell projection GO:0042995 10.06 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN2
8 cytoskeleton GO:0005856 10.03 WDR35 WDR19 TTC21B TRAF3IP1 TMEM216 TCTN2
9 intraciliary transport particle A GO:0030991 10.02 IFT122 IFT43 TTC21B WDR19 WDR35
10 intraciliary transport particle B GO:0030992 9.95 TRAF3IP1 IFT80 IFT172
11 MKS complex GO:0036038 9.91 TCTN1 TCTN2 TMEM216
12 ciliary transition zone GO:0035869 9.88 TRAF3IP1 TMEM216 TCTN2 TCTN1
13 plasma membrane protein complex GO:0098797 9.84 EVC2 EVC
14 ciliary tip GO:0097542 9.62 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT43

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.16 TCTN3 TCTN2 TCTN1 NEK1 IFT80 IFT43
2 non-motile cilium assembly GO:1905515 10.15 DYNC2H1 FUZ IFT122 IFT172 IFT80 TMEM216
3 smoothened signaling pathway GO:0007224 10.13 EVC EVC2 IFT172 IFT80 TCTN2 TCTN3
4 intraciliary transport GO:0042073 10.1 WDR35 TRAF3IP1 IFT172 IFT122 FUZ DYNC2I1
5 protein localization to cilium GO:0061512 10.03 DYNC2H1 IFT122 TTC21B WDR35
6 neural tube closure GO:0001843 10.02 IFT172 IFT122 FUZ
7 intraciliary retrograde transport GO:0035721 10 WDR35 WDR19 TTC21B IFT43 IFT122 DYNC2I1
8 limb development GO:0060173 9.97 IFT80 IFT172 IFT122
9 positive regulation of smoothened signaling pathway GO:0045880 9.95 IFT172 EVC DYNC2H1
10 regulation of smoothened signaling pathway GO:0008589 9.95 TTC21B TCTN1 IFT172 FUZ
11 intraciliary anterograde transport GO:0035720 9.93 TRAF3IP1 IFT80 IFT172
12 protein localization to ciliary transition zone GO:1904491 9.83 TCTN2 TCTN1
13 embryonic body morphogenesis GO:0010172 9.81 IFT122 FUZ
14 neural tube formation GO:0001841 9.71 TCTN1 IFT172
15 cell projection organization GO:0030030 9.44 DYNC2H1 DYNC2I1 FUZ IFT122 IFT43 NEK1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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