SRTD4
MCID: SHR066
MIFTS: 45

Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly (SRTD4)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 57 12 72 70
Asphyxiating Thoracic Dystrophy 4 57 12 72 29 13 6 15
Srtd4 57 12 72
Atd4 57 12 72
Dysplasia, Short-Rib Thoracic, Type 4, with/without Polydactyly 39
Asphyxiating Thoracic Dystrophy 4; Atd4 57
Jeune Asphyxiating Thoracic Dystrophy 72
Jeune Syndrome 4 72
Jatd 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on 3 unrelated patients, including an 8-year-old child and 1 adult (last curated june 2018)
limited clinical details provided by the authors


HPO:

31
short-rib thoracic dysplasia 4 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110088
OMIM® 57 613819
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 32 Q77.2
MedGen 41 C3151185
UMLS 70 C3151185

Summaries for Short-Rib Thoracic Dysplasia 4 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). (613819) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 4, is related to short-rib thoracic dysplasia 2 with or without polydactyly and short-rib thoracic dysplasia 5 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, pancreas and kidney, and related phenotypes are scoliosis and short stature

Disease Ontology : 12 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 4 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 4 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 4 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 2 with or without polydactyly 31.3 WDR19 TTC21B
2 short-rib thoracic dysplasia 5 with or without polydactyly 31.1 WDR35 WDR19 IFT140
3 short-rib thoracic dysplasia 8 with or without polydactyly 30.6 DYNLT2B DYNC2I1
4 short-rib thoracic dysplasia 11 with or without polydactyly 30.6 DYNLT2B DYNC2I1
5 ciliopathy 30.5 TTC21B IFT140
6 short-rib thoracic dysplasia 1 with or without polydactyly 30.4 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNLT2B
7 asphyxiating thoracic dystrophy 30.0 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNLT2B
8 polydactyly 29.8 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
9 bardet-biedl syndrome 29.8 WDR35 WDR19 TTC21B IFT140
10 short-rib thoracic dysplasia 3 with or without polydactyly 29.7 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
11 short-rib thoracic dysplasia 12 29.7 WDR35 WDR19 TTC21B DYNLT2B DYNC2I1
12 joubert syndrome 1 29.7 WDR35 WDR19 TTC21B IFT140 CLUAP1
13 short-rib thoracic dysplasia 6 with or without polydactyly 29.4 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
14 short-rib thoracic dysplasia 9 with or without polydactyly 29.2 WDR35 WDR19 TTC21B IFT140 CLUAP1
15 fundus dystrophy 29.0 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 CLUAP1
16 short-rib thoracic dysplasia 7 with or without polydactyly 28.7 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
17 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.1
18 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
19 short-rib thoracic dysplasia 17 with or without polydactyly 10.4
20 retinal degeneration 10.4
21 retinal aplasia 10.2 TTC21B-AS1 TTC21B
22 congenital nephrotic syndrome finnish type 10.2 TTC21B-AS1 TTC21B
23 odontochondrodysplasia 10.2
24 nephronophthisis 1 10.2
25 retinitis pigmentosa 10.2
26 orofaciodigital syndrome i 10.2
27 joubert syndrome 21 10.2
28 bardet-biedl syndrome 4 10.2
29 bardet-biedl syndrome 8 10.2
30 short-rib thoracic dysplasia 13 with or without polydactyly 10.2
31 short-rib thoracic dysplasia 14 with polydactyly 10.2
32 short-rib thoracic dysplasia 15 with polydactyly 10.2
33 short-rib thoracic dysplasia 16 with or without polydactyly 10.2
34 short-rib thoracic dysplasia 18 with polydactyly 10.2
35 short-rib thoracic dysplasia 19 with or without polydactyly 10.2
36 short-rib thoracic dysplasia 20 with polydactyly 10.2
37 brachydactyly 10.2
38 autosomal recessive disease 10.2
39 metaphyseal dysplasia 10.2
40 neuroretinitis 10.2
41 hydrocephalus 10.2
42 respiratory failure 10.2
43 tuberous sclerosis 10.2
44 retinitis 10.2
45 orofaciodigital syndrome 10.2
46 retinal disease 10.2
47 hypotonia 10.2
48 short rib-polydactyly syndrome 10.2
49 inherited retinal disorder 10.2
50 infantile nephronophthisis 10.2 TTC21B-AS1 TTC21B

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 short stature 31 HP:0004322
3 brachydactyly 31 HP:0001156
4 narrow chest 31 HP:0000774
5 retinal degeneration 31 HP:0000546
6 short long bone 31 HP:0003026
7 short ribs 31 HP:0000773
8 stage 5 chronic kidney disease 31 HP:0003774
9 polydactyly 31 HP:0010442
10 hepatic cysts 31 HP:0001407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
brachydactyly
polydactyly, unilateral

Genitourinary Kidneys:
end-stage renal disease

Skeletal Spine:
scoliosis (in 1 patient)

Abdomen Liver:
hepatic cysts (in 1 patient)

Chest External Features:
narrow chest

Skeletal Limbs:
short long bones

Growth Height:
short stature (in 1 patient)

Skeletal Feet:
polydactyly, unilateral

Clinical features from OMIM®:

613819 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Asphyxiating Thoracic Dystrophy 4 29 TTC21B

Anatomical Context for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

40
Eye, Pancreas, Kidney, Bone, Retina

Publications for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

(show all 44)
# Title Authors PMID Year
1
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 61 57 6
21258341 2011
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
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57 61
24183451 2013
4
Ciliary disorder of the skeleton. 57
22791528 2012
5
A novel heterotaxy gene: Expansion of the phenotype of TTC21B-spectrum disease. 61
33547761 2021
6
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. 61
32753734 2020
7
Intraflagellar Transport 80 Is Required for Cilia Construction and Maintenance in Paramecium tetraurelia. 61
32369644 2020
8
A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy. 61
31816441 2020
9
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. 61
30988386 2019
10
Role for intraflagellar transport in building a functional transition zone. 61
30429209 2018
11
IFT80 Improves Invasion Ability in Gastric Cancer Cell Line via ift80/p75NGFR/MMP9 Signaling. 61
30453504 2018
12
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. 61
29847808 2018
13
A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells. 61
29741480 2018
14
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 61
29271569 2018
15
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. 61
28422394 2017
16
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 61
27208211 2016
17
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 61
27094867 2016
18
New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy. 61
26874042 2016
19
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. 61
27021811 2016
20
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 61
26386044 2015
21
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. 61
26044572 2015
22
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 61
25361962 2015
23
Deletion of IFT80 Impairs Epiphyseal and Articular Cartilage Formation Due to Disruption of Chondrocyte Differentiation. 61
26098911 2015
24
Clinical genetics and pathobiology of ciliary chondrodysplasias. 61
25506500 2014
25
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. 61
24360808 2014
26
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 61
23456818 2013
27
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 61
23418020 2013
28
IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways. 61
23333501 2013
29
The intraflagellar transport protein IFT80 is required for cilia formation and osteogenesis. 61
22771375 2012
30
Whole-Genome Sequencing to Identify Mutants and Polymorphisms in Chlamydomonas reinhardtii. 61
22384377 2012
31
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. 61
21977988 2011
32
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. 61
21227999 2011
33
The Nuss technique for Jeune asphyxiating thoracic dystrophy repair in siblings. 61
20606585 2010
34
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. 61
20207966 2010
35
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. 61
20503315 2010
36
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 61
19442771 2009
37
Ciliopathy spectrum expanded? Jeune syndrome associated with foregut dysmotility and malrotation. 61
19137595 2009
38
Identification and characterization of a long isoform of human IFT80, IFT80-L. 61
18601909 2008
39
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 61
17468754 2007
40
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. 61
15368501 2004
41
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. 61
12746391 2003
42
Dynamic thoracoplasty for asphyxiating thoracic dystrophy. 61
11722089 2001
43
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. 61
10710229 2000
44
The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. 61
4470905 1974

Variations for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC21B NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro) SNV Pathogenic 30939 rs387907060 GRCh37: 2:166767914-166767914
GRCh38: 2:165911404-165911404
2 TTC21B NM_024753.5(TTC21B):c.152-2A>G SNV Pathogenic 545537 rs760214276 GRCh37: 2:166806016-166806016
GRCh38: 2:165949506-165949506
3 TTC21B NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) SNV Pathogenic 30938 rs185089786 GRCh37: 2:166785800-166785800
GRCh38: 2:165929290-165929290
4 TTC21B NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) SNV Pathogenic 446651 rs759086770 GRCh37: 2:166740383-166740383
GRCh38: 2:165883873-165883873
5 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
6 TTC21B NM_024753.5(TTC21B):c.3460-3T>C SNV Uncertain significance 1029923 GRCh37: 2:166740531-166740531
GRCh38: 2:165884021-165884021
7 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.368G>A (p.Arg123His) SNV Uncertain significance 1029924 GRCh37: 2:166802095-166802095
GRCh38: 2:165945585-165945585
8 TTC21B NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) SNV Uncertain significance 894575 GRCh37: 2:166755243-166755243
GRCh38: 2:165898733-165898733
9 TTC21B NM_024753.5(TTC21B):c.795+3A>G SNV Uncertain significance 331837 rs753275145 GRCh37: 2:166789480-166789480
GRCh38: 2:165932970-165932970
10 TTC21B NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) SNV Uncertain significance 216768 rs34925776 GRCh37: 2:166747029-166747029
GRCh38: 2:165890519-165890519
11 TTC21B NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) SNV Uncertain significance 331836 rs142887208 GRCh37: 2:166781127-166781127
GRCh38: 2:165924617-165924617
12 TTC21B NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) SNV Uncertain significance 261781 rs115504901 GRCh37: 2:166740469-166740469
GRCh38: 2:165883959-165883959
13 TTC21B NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) SNV Uncertain significance 649177 rs141240501 GRCh37: 2:166788282-166788282
GRCh38: 2:165931772-165931772
14 TTC21B NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) SNV Uncertain significance 892605 GRCh37: 2:166775823-166775823
GRCh38: 2:165919313-165919313
15 TTC21B NM_024753.5(TTC21B):c.*593G>A SNV Uncertain significance 331807 rs886055022 GRCh37: 2:166730672-166730672
GRCh38: 2:165874162-165874162
16 TTC21B NM_024753.5(TTC21B):c.*540T>C SNV Uncertain significance 331809 rs534739269 GRCh37: 2:166730725-166730725
GRCh38: 2:165874215-165874215
17 TTC21B NM_024753.5(TTC21B):c.*1117A>G SNV Uncertain significance 893038 GRCh37: 2:166730148-166730148
GRCh38: 2:165873638-165873638
18 TTC21B NM_024753.5(TTC21B):c.*1107A>G SNV Uncertain significance 893039 GRCh37: 2:166730158-166730158
GRCh38: 2:165873648-165873648
19 TTC21B NM_024753.5(TTC21B):c.3805+13A>G SNV Uncertain significance 893114 GRCh37: 2:166737176-166737176
GRCh38: 2:165880666-165880666
20 TTC21B NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) SNV Uncertain significance 893149 GRCh37: 2:166756318-166756318
GRCh38: 2:165899808-165899808
21 TTC21B NM_024753.5(TTC21B):c.*1104G>A SNV Uncertain significance 893252 GRCh37: 2:166730161-166730161
GRCh38: 2:165873651-165873651
22 TTC21B NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) SNV Uncertain significance 331829 rs183367929 GRCh37: 2:166769119-166769119
GRCh38: 2:165912609-165912609
23 TTC21B NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) SNV Uncertain significance 331827 rs114725374 GRCh37: 2:166764284-166764284
GRCh38: 2:165907774-165907774
24 TTC21B NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) SNV Uncertain significance 331824 rs151227843 GRCh37: 2:166756333-166756333
GRCh38: 2:165899823-165899823
25 TTC21B NM_024753.5(TTC21B):c.3874-14T>C SNV Uncertain significance 508884 rs200347449 GRCh37: 2:166731356-166731356
GRCh38: 2:165874846-165874846
26 TTC21B NM_024753.5(TTC21B):c.783G>T (p.Gly261=) SNV Uncertain significance 528909 rs200255917 GRCh37: 2:166789495-166789495
GRCh38: 2:165932985-165932985
27 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) SNV Uncertain significance 198257 rs149925563 GRCh37: 2:166797556-166797556
GRCh38: 2:165941046-165941046
28 TTC21B NM_024753.5(TTC21B):c.-24C>T SNV Uncertain significance 506599 rs554218980 GRCh37: 2:166810239-166810239
GRCh38: 2:165953729-165953729
29 TTC21B NM_024753.5(TTC21B):c.-17C>T SNV Uncertain significance 331846 rs572065013 GRCh37: 2:166810232-166810232
GRCh38: 2:165953722-165953722
30 TTC21B NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) SNV Uncertain significance 331826 rs886055026 GRCh37: 2:166758367-166758367
GRCh38: 2:165901857-165901857
31 TTC21B NM_024753.5(TTC21B):c.63T>C (p.His21=) SNV Uncertain significance 331841 rs886055029 GRCh37: 2:166806193-166806193
GRCh38: 2:165949683-165949683
32 TTC21B NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) SNV Uncertain significance 331830 rs368202285 GRCh37: 2:166771749-166771749
GRCh38: 2:165915239-165915239
33 TTC21B NM_024753.5(TTC21B):c.*544A>G SNV Uncertain significance 331808 rs565605248 GRCh37: 2:166730721-166730721
GRCh38: 2:165874211-165874211
34 TTC21B NM_024753.5(TTC21B):c.*246G>A SNV Uncertain significance 331817 rs759810831 GRCh37: 2:166731019-166731019
GRCh38: 2:165874509-165874509
35 TTC21B NM_024753.5(TTC21B):c.3873+10T>A SNV Uncertain significance 331820 rs779470575 GRCh37: 2:166732665-166732665
GRCh38: 2:165876155-165876155
36 TTC21B NM_024753.5(TTC21B):c.*473C>G SNV Uncertain significance 331813 rs763021259 GRCh37: 2:166730792-166730792
GRCh38: 2:165874282-165874282
37 TTC21B NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) SNV Uncertain significance 331838 rs886055027 GRCh37: 2:166789485-166789485
GRCh38: 2:165932975-165932975
38 TTC21B NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) SNV Uncertain significance 331828 rs570679271 GRCh37: 2:166769087-166769087
GRCh38: 2:165912577-165912577
39 TTC21B NM_024753.5(TTC21B):c.*730A>C SNV Uncertain significance 331803 rs886055021 GRCh37: 2:166730535-166730535
GRCh38: 2:165874025-165874025
40 TTC21B NM_024753.5(TTC21B):c.-18C>T SNV Uncertain significance 331847 rs187707893 GRCh37: 2:166810233-166810233
GRCh38: 2:165953723-165953723
41 TTC21B NM_024753.5(TTC21B):c.*419C>A SNV Uncertain significance 331816 rs886055024 GRCh37: 2:166730846-166730846
GRCh38: 2:165874336-165874336
42 TTC21B NM_024753.5(TTC21B):c.*460T>C SNV Uncertain significance 331814 rs537286454 GRCh37: 2:166730805-166730805
GRCh38: 2:165874295-165874295
43 TTC21B NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) SNV Uncertain significance 331835 rs748993825 GRCh37: 2:166781097-166781097
GRCh38: 2:165924587-165924587
44 TTC21B NM_024753.5(TTC21B):c.*642C>T SNV Uncertain significance 331806 rs547612425 GRCh37: 2:166730623-166730623
GRCh38: 2:165874113-165874113
45 TTC21B NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) SNV Uncertain significance 331842 rs184586093 GRCh37: 2:166806218-166806218
GRCh38: 2:165949708-165949708
46 TTC21B NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) SNV Uncertain significance 331832 rs377128320 GRCh37: 2:166773934-166773934
GRCh38: 2:165917424-165917424
47 TTC21B NM_024753.5(TTC21B):c.-16C>G SNV Uncertain significance 331845 rs886055030 GRCh37: 2:166810231-166810231
GRCh38: 2:165953721-165953721
48 TTC21B NM_024753.5(TTC21B):c.*680C>T SNV Uncertain significance 331804 rs746664114 GRCh37: 2:166730585-166730585
GRCh38: 2:165874075-165874075
49 TTC21B NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) SNV Uncertain significance 331833 rs200916824 GRCh37: 2:166775851-166775851
GRCh38: 2:165919341-165919341
50 TTC21B NM_024753.5(TTC21B):c.-64G>A SNV Uncertain significance 331848 rs886055031 GRCh37: 2:166810279-166810279
GRCh38: 2:165953769-165953769

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 TTC21B p.Thr231Ser VAR_065520 rs149925563
2 TTC21B p.Asp755Tyr VAR_065536
3 TTC21B p.Leu795Pro VAR_065537 rs387907060

Expression for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
2
Show member pathways
12 WDR35 WDR19 TTC21B IFT140
3 10.78 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1

GO Terms for Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.91 WDR35 WDR19 TTC21B IFT140 DYNC2I1
2 cell projection GO:0042995 9.85 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1
3 centrosome GO:0005813 9.72 WDR35 IFT140 DYNLT2B DYNC2I1 CLUAP1
4 cilium GO:0005929 9.7 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
5 axoneme GO:0005930 9.58 WDR35 IFT140 DYNLT2B
6 photoreceptor connecting cilium GO:0032391 9.49 WDR19 IFT140
7 ciliary base GO:0097546 9.48 DYNLT2B DYNC2I1
8 non-motile cilium GO:0097730 9.46 WDR19 IFT140
9 cytoplasmic dynein complex GO:0005868 9.43 DYNLT2B DYNC2I1
10 interphase microtubule organizing center GO:0031021 9.26 DYNLT2B DYNC2I1
11 intraciliary transport particle A GO:0030991 9.26 WDR35 WDR19 TTC21B IFT140
12 ciliary tip GO:0097542 9.1 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1

Biological processes related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.65 WDR35 WDR19 IFT140 DYNC2I1 CLUAP1
2 cilium assembly GO:0060271 9.63 WDR35 WDR19 IFT140 DYNLT2B DYNC2I1 CLUAP1
3 protein localization to cilium GO:0061512 9.58 WDR35 TTC21B IFT140
4 intraciliary transport GO:0042073 9.5 WDR35 IFT140 DYNC2I1
5 regulation of cilium assembly GO:1902017 9.49 IFT140 DYNLT2B
6 embryonic cranial skeleton morphogenesis GO:0048701 9.48 WDR19 IFT140
7 regulation of smoothened signaling pathway GO:0008589 9.46 TTC21B IFT140
8 embryonic camera-type eye development GO:0031076 9.43 WDR19 IFT140
9 intraciliary transport involved in cilium assembly GO:0035735 9.43 WDR35 WDR19 TTC21B IFT140 DYNC2I1 CLUAP1
10 regulation of intraciliary retrograde transport GO:1905799 9.37 TTC21B DYNLT2B
11 intraciliary retrograde transport GO:0035721 9.1 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1

Molecular functions related to Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding involved in protein folding GO:0044183 8.62 PFDN2 CCT6A

Sources for Short-Rib Thoracic Dysplasia 4 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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