SRTD1
MCID: SHR074
MIFTS: 60

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly (SRTD1)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 57 12 29 6
Jeune Syndrome 57 73 20 58 6
Asphyxiating Thoracic Dystrophy 1 57 12 13 15
Asphyxiating Thoracic Dystrophy of the Newborn 20 58
Jeune Asphyxiating Thoracic Dystrophy 20 58
Srtd1 57 12
Atd1 57 12
Jatd 20 58
Dysplasia, Short-Rib Thoracic, Type 1, with/without Polydactyly 39
Chondroectodermal Dysplasia-Like Syndrome 20
Asphyxiating Thoracic Dystrophy 1; Atd1 57
Thoracic-Pelvic-Phalangeal Dystrophy 57
Thoracic Pelvic Phalangeal Dystrophy 20
Asphyxiating Thoracic Dystrophy 20
Infantile Thoracic Dystrophy 20
Jeune Thoracic Dystrophy 70
Jeune's Syndrome 20
Atd 20

Characteristics:

Orphanet epidemiological data:

58
jeune syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM®:

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

Miscellaneous:
variable severity
death in infancy secondary to pulmonary insufficiency
survivors may develop renal insufficiency and hepatic dysfunction
frequency 1/100,000 - 1/130,000 live births


HPO:

31
short-rib thoracic dysplasia 1 with or without polydactyly:
Onset and clinical course death in infancy variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0110085
OMIM® 57 208500
OMIM Phenotypic Series 57 PS208500
ICD10 32 Q77.2
MESH via Orphanet 45 C537571
ICD10 via Orphanet 33 Q77.2
UMLS via Orphanet 71 C0265275
Orphanet 58 ORPHA474
MedGen 41 C4551856
UMLS 70 C0265275

Summaries for Short-Rib Thoracic Dysplasia 1 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). (208500) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly, also known as jeune syndrome, is related to asphyxiating thoracic dystrophy and short-rib thoracic dysplasia 13 with or without polydactyly, and has symptoms including icterus An important gene associated with Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include eye, pancreas and liver, and related phenotypes are skeletal dysplasia and short thorax

Disease Ontology : 12 An asphyxiating thoracic dystrophy associated with variation in the region 15q13.

GARD : 20 Jeune syndrome is a rare condition that primarily affects the bones. Common signs and symptoms include a small chest and short ribs which restrict the growth and expansion of the lungs, often causing life-threatening breathing difficulties. Other symptoms may include shortened bones in the arms and legs, unusually shaped pelvic bones, and extra fingers and/or toes. People who survive the breathing challenges of infancy, may later develop severe kidney or heart problems. In many cases the cause of Jeune syndrome is unknown; however, changes ( mutations ) in several different genes ( IFT80, DYNC2H1, WDR19, IFT140 and TTC21B ) have been identified in some families with the condition. Jeune syndrome is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

Wikipedia : 73 Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth... more...

Related Diseases for Short-Rib Thoracic Dysplasia 1 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 1 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 asphyxiating thoracic dystrophy 32.3 WDR35 WDR19 TTC21B-AS1 TTC21B TRIM59-IFT80 TRAF3IP1
2 short-rib thoracic dysplasia 13 with or without polydactyly 32.0 KIAA0753 CEP120
3 short-rib thoracic dysplasia 5 with or without polydactyly 32.0 WDR35 WDR19 IFT140
4 short-rib thoracic dysplasia 15 with polydactyly 32.0 DYNC2LI1 ABCG5
5 short-rib thoracic dysplasia 8 with or without polydactyly 31.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
6 short-rib thoracic dysplasia 11 with or without polydactyly 31.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 short-rib thoracic dysplasia 2 with or without polydactyly 31.9 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
8 short-rib thoracic dysplasia 9 with or without polydactyly 31.9 WDR35 WDR19 TTC21B IFT172 IFT140
9 short-rib thoracic dysplasia 7 with or without polydactyly 31.8 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2I1
10 short-rib thoracic dysplasia 4 with or without polydactyly 31.8 WDR35 WDR19 TTC21B-AS1 TTC21B IFT140 DYNLT2B
11 cranioectodermal dysplasia 31.6 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
12 short-rib thoracic dysplasia 12 31.4 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 NEK1
13 short-rib thoracic dysplasia 3 with or without polydactyly 31.3 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
14 short-rib thoracic dysplasia 6 with or without polydactyly 31.3 WDR35 WDR19 TTC21B TRIM59-IFT80 TRAF3IP1 NEK1
15 odontochondrodysplasia 30.9 WDR35 WDR19 IFT80 EVC2 DYNC2H1
16 ciliopathy 30.8 TTC21B IFT140 DYNC2LI1
17 joubert syndrome 1 30.8 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 KIAA0753
18 retinal aplasia 30.8 TTC21B-AS1 TTC21B
19 retinal degeneration 30.8 TTC21B IFT172 IFT140 DYNC2H1 BBS10
20 polydactyly 30.6 WDR35 WDR19 TTC21B NEK1 IFT80 IFT172
21 juvenile nephronophthisis 30.5 WDR19 TTC21B-AS1 TTC21B IFT140
22 nephronophthisis 30.4 WDR35 WDR19 TTC21B-AS1 TTC21B TRAF3IP1 NEK1
23 retinitis pigmentosa 30.4 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
24 bardet-biedl syndrome 30.4 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
25 geographic tongue 30.4 DYNLT2B DYNC2H1
26 short rib-polydactyly syndrome 30.4 WDR35 DYNC2H1
27 fundus dystrophy 30.2 WDR35 WDR19 TTC21B-AS1 TTC21B NEK1 KIAA0753
28 ellis-van creveld syndrome 29.9 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80
29 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.4
30 jeune syndrome situs inversus 11.2
31 short-rib thoracic dysplasia 20 with polydactyly 11.1
32 thoracolaryngopelvic dysplasia 11.0
33 short-rib thoracic dysplasia 10 with or without polydactyly 10.9
34 short-rib thoracic dysplasia 14 with polydactyly 10.9
35 short-rib thoracic dysplasia 16 with or without polydactyly 10.9
36 short-rib thoracic dysplasia 17 with or without polydactyly 10.9
37 short-rib thoracic dysplasia 18 with polydactyly 10.9
38 short-rib thoracic dysplasia 19 with or without polydactyly 10.9
39 acrofacial dysostosis 10.5 WDR35 IFT80 EVC2
40 cranioectodermal dysplasia 1 10.5 WDR35 WDR19 IFT140
41 sitosterolemia 2 10.5 DYNC2LI1 ABCG5
42 bardet-biedl syndrome 7 10.4 DYNLT2B DYNC2I2 DYNC2I1
43 nephronophthisis 12 10.4 WDR19 TTC21B-AS1 TTC21B
44 congenital nephrotic syndrome finnish type 10.4 TTC21B-AS1 TTC21B
45 developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 10.4 KIAA0753 CEP120
46 bone development disease 10.4 IFT80 EVC2 DYNC2H1
47 visceral heterotaxy 10.4 TTC21B IFT80 IFT172 DYNC2H1
48 sitosterolemia 1 10.4 DYNC2LI1 ABCG5
49 orofaciodigital syndrome iv 10.4 DYNC2I2 DYNC2I1
50 polycystic kidney disease 4 with or without polycystic liver disease 10.4 WDR19 TTC21B IFT80 IFT172 IFT140 DYNC2H1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
2 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
3 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
4 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
5 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
6 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
7 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
8 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
9 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
10 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
11 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
12 abnormal sternum morphology 31 frequent (33%) HP:0000766
13 abnormal clavicle morphology 31 frequent (33%) HP:0000889
14 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
15 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
16 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
17 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
18 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
19 aplasia/hypoplasia of the lungs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006703
20 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
21 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
22 nephronophthisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000090
23 postaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001162
24 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
25 recurrent respiratory infections 31 HP:0002205
26 proteinuria 31 HP:0000093
27 hepatic fibrosis 31 HP:0001395
28 jaundice 31 HP:0000952
29 hand polydactyly 31 HP:0001161
30 foot polydactyly 31 HP:0001829
31 abnormality of the clavicle 58 Frequent (79-30%)
32 hypoplasia of the ulna 31 HP:0003022
33 abnormality of the sternum 58 Frequent (79-30%)
34 pancreatic cysts 31 HP:0001737
35 pancreatic fibrosis 31 HP:0100732
36 pulmonary hypoplasia 31 HP:0002089
37 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
38 renal cyst 31 HP:0000107
39 retinal degeneration 31 HP:0000546
40 short phalanx of finger 31 HP:0009803
41 conjugated hyperbilirubinemia 31 HP:0002908
42 fibular hypoplasia 31 HP:0003038
43 chronic kidney disease 31 HP:0012622
44 short ribs 31 HP:0000773
45 hypoplastic iliac wing 31 HP:0002866
46 lateral clavicle hook 31 HP:0000895
47 irregular epiphyses 31 HP:0010582
48 hypoplastic pelvis 31 HP:0008839
49 polycystic liver disease 31 HP:0006557
50 horizontal ribs 31 HP:0000888

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
recurrent respiratory infections
pulmonary hypoplasia
pulmonary insufficiency

Laboratory Abnormalities:
proteinuria
hyperbilirubinemia, direct

Skin Nails Hair Skin:
jaundice

Abdomen Pancreas:
pancreatic cysts
pancreatic fibrosis

Skeletal Feet:
polydactyly

Skeletal Limbs:
short long bones
irregular metaphyses (childhood)
irregular epiphyses (childhood)
ulnae, relatively short (childhood)
fibulae, relatively short (childhood)

Chest Ribs Sternum Clavicles And Scapulae:
short, horizontal ribs
bulbous, irregular rib ends
handlebar clavicles

Skeletal Skull:
lacunar skull

Growth Height:
short stature

Abdomen Liver:
hepatic fibrosis
jaundice
polycystic liver disease
bile duct proliferation

Skeletal Hands:
brachydactyly
polydactyly
short phalanges
cone-shaped epiphyses (childhood)

Head And Neck Eyes:
retinal degeneration

Genitourinary Kidneys:
renal failure
chronic nephritis
cystic kidneys

Skeletal Pelvis:
small pelvis
hypoplastic iliac wings (infancy)
trident acetabular roofs
early ossification of capital femoral epiphyses (infancy)
sciatic notch spur

Chest External Features:
long, narrow thorax

Clinical features from OMIM®:

208500 (Updated 05-Apr-2021)

UMLS symptoms related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:


icterus

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 ABCG5 BBS10 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1
2 growth/size/body region MP:0005378 10.28 ABCG5 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2
3 embryo MP:0005380 10.25 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1
4 mortality/aging MP:0010768 10.25 ABCG5 BBS10 CEP120 DYNC2H1 DYNC2I1 DYNC2I2
5 limbs/digits/tail MP:0005371 10.15 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT140 IFT172
6 craniofacial MP:0005382 10.11 DYNC2H1 EVC2 IFT140 IFT172 IFT80 KIAA0753
7 nervous system MP:0003631 10 BBS10 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 IFT140
8 renal/urinary system MP:0005367 9.7 BBS10 DYNC2H1 IFT140 IFT172 IFT80 NEK1
9 skeleton MP:0005390 9.65 CEP120 DYNC2H1 EVC2 IFT140 IFT172 IFT80
10 vision/eye MP:0005391 9.28 BBS10 DYNC2H1 DYNC2I2 IFT140 IFT172 IFT80

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376

Search NIH Clinical Center for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 29

Anatomical Context for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

(show top 50) (show all 203)
# Title Authors PMID Year
1
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 61 57 6
24183451 2013
2
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 6 57 61
19610081 2009
3
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 6 61
27666822 2016
4
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 61 6
24140113 2013
5
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 6 61
23456818 2013
6
Ciliary disorder of the skeleton. 57 61
22791528 2012
7
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6 61
22019273 2011
8
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. 6 61
19430947 2010
9
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. 57 61
12807964 2003
10
Visual loss as the presenting sign of Jeune syndrome. 6 61
11030072 2000
11
Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. 61 57
10588838 1999
12
Jeune syndrome associated with cystinuria: report of two sisters. 57 61
2260554 1990
13
Mild form of Jeune syndrome in two sisters. 61 57
2309769 1990
14
Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). 61 57
3130856 1987
15
Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. 61 57
3746836 1986
16
Prenatal diagnosis of Jeune syndrome. 61 57
3895926 1985
17
Prenatal sonographic diagnosis of Jeune syndrome. 61 57
3881799 1985
18
"Jeune syndrome" (asphyxiating thoracic dystrophy). Report of a case, a review of the literature, and an editor's commentary. 61 57
891068 1977
19
The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. 57 61
1190257 1975
20
Mutations in IFT80 cause SRPS Type IV. Report of two families and review. 6
30767363 2019
21
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. 6
30266093 2018
22
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
23
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
24
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. 6
29138412 2017
25
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
26
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. 6
27925158 2017
27
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 6
28621010 2017
28
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
29
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. 6
27596865 2016
30
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 6
27208211 2016
31
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy. 6
27491411 2016
32
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 6
27241786 2016
33
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 6
25492405 2015
34
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. 6
26275793 2015
35
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. 6
25726036 2015
36
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. 6
25664603 2015
37
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. 6
25361962 2015
38
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 6
24876116 2014
39
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 6
24183449 2013
40
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 6
23683095 2013
41
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
42
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. 6
23339108 2013
43
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 6
22499340 2012
44
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. 6
21227999 2011
45
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 6
21258341 2011
46
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 6
19648123 2011
47
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 6
21068128 2011
48
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 6
21211617 2011
49
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. 57
20503315 2010
50
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 6
19442771 2009

Variations for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly:

6 (show top 50) (show all 1955)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.315C>G (p.His105Gln) SNV Pathogenic 989 rs137853115 GRCh37: 3:160095273-160095273
GRCh38: 3:160377485-160377485
2 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) SNV Pathogenic 991 rs137853116 GRCh37: 3:159986323-159986323
GRCh38: 3:160268535-160268535
3 WDR19 NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) SNV Pathogenic 30705 rs387906982 GRCh37: 4:39187359-39187359
GRCh38: 4:39185739-39185739
4 TTC21B NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro) SNV Pathogenic 30939 rs387907060 GRCh37: 2:166767914-166767914
GRCh38: 2:165911404-165911404
5 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) SNV Pathogenic 97022 rs149614625 GRCh37: 2:27667370-27667370
GRCh38: 2:27444503-27444503
6 IFT172 NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) SNV Pathogenic 97024 rs587777079 GRCh37: 2:27670411-27670411
GRCh38: 2:27447544-27447544
7 IFT172 NM_015662.3(IFT172):c.1232T>A (p.Ile411Asn) SNV Pathogenic 97031 rs587777085 GRCh37: 2:27700177-27700177
GRCh38: 2:27477310-27477310
8 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.721G>A (p.Gly241Arg) SNV Pathogenic 100665 rs138004478 GRCh37: 3:160073857-160073857
GRCh38: 3:160356069-160356069
9 CEP120 NM_153223.3(CEP120):c.595G>C (p.Ala199Pro) SNV Pathogenic 189370 rs367600930 GRCh37: 5:122734847-122734847
GRCh38: 5:123399153-123399153
10 CEP120 NM_153223.3(CEP120):c.451C>T (p.Arg151Ter) SNV Pathogenic 446142 rs757499322 GRCh37: 5:122748105-122748105
GRCh38: 5:123412411-123412411
11 CEP120 NM_153223.3(CEP120):c.2924T>G (p.Ile975Ser) SNV Pathogenic 446143 rs1554098663 GRCh37: 5:122682250-122682250
GRCh38: 5:123346556-123346556
12 WDR19 NM_025132.4(WDR19):c.1080del (p.Ile361fs) Deletion Pathogenic 542761 rs1553907440 GRCh37: 4:39217578-39217578
GRCh38: 4:39215958-39215958
13 IFT172 NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) SNV Pathogenic 579128 rs1250676888 GRCh37: 2:27702991-27702991
GRCh38: 2:27480124-27480124
14 DYNC2LI1 NM_016008.4(DYNC2LI1):c.993+1G>A SNV Pathogenic 212764 rs374356079 GRCh37: 2:44032386-44032386
GRCh38: 2:43805247-43805247
15 DYNC2LI1 NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val) SNV Pathogenic 212765 rs201948500 GRCh37: 2:44021624-44021624
GRCh38: 2:43794485-43794485
16 DYNC2LI1 NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter) SNV Pathogenic 212766 rs769975073 GRCh37: 2:44021647-44021647
GRCh38: 2:43794508-43794508
17 ABCG5 , DYNC2LI1 NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) SNV Pathogenic 212767 rs879255655 GRCh37: 2:44036850-44036850
GRCh38: 2:43809711-43809711
18 DYNC2LI1 NM_016008.4(DYNC2LI1):c.993+3A>G SNV Pathogenic 212768 rs879255656 GRCh37: 2:44032388-44032388
GRCh38: 2:43805249-43805249
19 TTC21B NM_024753.5(TTC21B):c.152-2A>G SNV Pathogenic 545537 rs760214276 GRCh37: 2:166806016-166806016
GRCh38: 2:165949506-165949506
20 WDR19 NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter) SNV Pathogenic 802067 rs1577822861 GRCh37: 4:39188168-39188168
GRCh38: 4:39186548-39186548
21 WDR19 NM_025132.4(WDR19):c.1250-1G>A SNV Pathogenic 802068 rs1327583103 GRCh37: 4:39218753-39218753
GRCh38: 4:39217133-39217133
22 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
23 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
24 IFT172 NC_000002.12:g.(?_27462701)_(27463181_?)del Deletion Pathogenic 831594 GRCh37: 2:27685568-27686048
GRCh38:
25 IFT172 NM_015662.3(IFT172):c.2158del (p.Arg720fs) Deletion Pathogenic 97032 rs587777086 GRCh37: 2:27684661-27684661
GRCh38: 2:27461794-27461794
26 IFT172 NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) SNV Pathogenic 866056 GRCh37: 2:27676352-27676352
GRCh38: 2:27453485-27453485
27 IFT172 NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) SNV Pathogenic 938394 GRCh37: 2:27708262-27708262
GRCh38: 2:27485395-27485395
28 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) SNV Pathogenic 97022 rs149614625 GRCh37: 2:27667370-27667370
GRCh38: 2:27444503-27444503
29 WDR19 NM_025132.4(WDR19):c.275T>G (p.Leu92Ter) SNV Pathogenic 961687 GRCh37: 4:39191386-39191386
GRCh38: 4:39189766-39189766
30 DYNC2I2 NM_052844.3(DYNC2I2):c.1022C>T (p.Ala341Val) SNV Pathogenic 97037 rs587777091 GRCh37: 9:131397160-131397160
GRCh38: 9:128634881-128634881
31 DYNC2I2 NM_052844.3(DYNC2I2):c.1061C>T (p.Thr354Met) SNV Pathogenic 97038 rs587777092 GRCh37: 9:131397121-131397121
GRCh38: 9:128634842-128634842
32 DYNC2I2 NM_052844.3(DYNC2I2):c.1339C>T (p.Arg447Trp) SNV Pathogenic 97039 rs587777093 GRCh37: 9:131396538-131396538
GRCh38: 9:128634259-128634259
33 DYNC2I2 NM_052844.3(DYNC2I2):c.1340G>A (p.Arg447Gln) SNV Pathogenic 97040 rs587777094 GRCh37: 9:131396537-131396537
GRCh38: 9:128634258-128634258
34 DYNC2I2 NM_052844.3(DYNC2I2):c.982-2A>C SNV Pathogenic 97041 rs587777095 GRCh37: 9:131397202-131397202
GRCh38: 9:128634923-128634923
35 DYNC2I2 NM_052844.3(WDR34):c.1539_1540CA[1] (p.Thr514fs) Microsatellite Pathogenic 97043 rs431905519 GRCh37: 9:131396092-131396093
GRCh38: 9:128633813-128633814
36 DYNC2I2 NM_052844.3(DYNC2I2):c.472C>T (p.Gln158Ter) SNV Pathogenic 97044 rs587777097 GRCh37: 9:131399270-131399270
GRCh38: 9:128636991-128636991
37 DYNC2I2 NM_052844.3(DYNC2I2):c.1307A>G (p.Lys436Arg) SNV Pathogenic 97045 rs587777098 GRCh37: 9:131396570-131396570
GRCh38: 9:128634291-128634291
38 TRIM59-IFT80 , IFT80 NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) SNV Pathogenic 983305 GRCh37: 3:159995145-159995145
GRCh38: 3:160277357-160277357
39 DYNC2I2 NM_052844.3(DYNC2I2):c.26del (p.Pro9fs) Deletion Pathogenic 576613 rs763975565 GRCh37: 9:131418980-131418980
GRCh38: 9:128656701-128656701
40 DYNC2I2 NM_052844.3(DYNC2I2):c.1312_1313del (p.Leu438fs) Deletion Pathogenic 665979 rs753802842 GRCh37: 9:131396564-131396565
GRCh38: 9:128634285-128634286
41 DYNC2I2 NC_000009.12:g.128634800_128634801TC[1] Microsatellite Pathogenic 838321 GRCh37: 9:131397078-131397079
GRCh38: 9:128634799-128634800
42 DYNC2I2 NM_052844.3(DYNC2I2):c.1177G>A (p.Gly393Ser) SNV Pathogenic 97042 rs587777096 GRCh37: 9:131397005-131397005
GRCh38: 9:128634726-128634726
43 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) SNV Pathogenic 216125 rs777162250 GRCh37: 2:166797563-166797563
GRCh38: 2:165941053-165941053
44 DYNC2H1 NM_001377.3(DYNC2H1):c.2702+1G>A SNV Pathogenic 220043 rs864622358 GRCh37: 11:103014125-103014125
GRCh38: 11:103143396-103143396
45 DYNC2H1 NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) SNV Pathogenic 220042 rs864622357 GRCh37: 11:102995924-102995924
GRCh38: 11:103125195-103125195
46 DYNC2H1 NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) SNV Pathogenic 238272 rs754919042 GRCh37: 11:103043971-103043971
GRCh38: 11:103173242-103173242
47 DYNC2H1 NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs) Deletion Pathogenic 407162 rs771003300 GRCh37: 11:103044023-103044023
GRCh38: 11:103173294-103173294
48 DYNC2H1 NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) SNV Pathogenic 446556 rs371011047 GRCh37: 11:102991711-102991711
GRCh38: 11:103120982-103120982
49 DYNC2H1 NM_001377.3(DYNC2H1):c.1355_1358del (p.Ile452fs) Deletion Pathogenic 459277 rs1223907858 GRCh37: 11:102991758-102991761
GRCh38: 11:103121029-103121032
50 KIAA0753 NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) SNV Pathogenic 428613 rs746068882 GRCh37: 17:6526336-6526336
GRCh38: 17:6623016-6623016

Expression for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 WDR35 WDR19 TTC21B IFT172 IFT140 EVC2
2
Show member pathways
12.16 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
3 11.35 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172

GO Terms for Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 KIAA0753
2 cell projection GO:0042995 10.18 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
3 cytoskeleton GO:0005856 10.17 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 KIAA0753
4 microtubule organizing center GO:0005815 10.08 WDR35 NEK1 KIAA0753 IFT140 DYNC2LI1 DYNC2I2
5 centrosome GO:0005813 10 WDR35 TRAF3IP1 NEK1 KIAA0753 IFT80 IFT140
6 ciliary basal body GO:0036064 9.98 WDR35 TRAF3IP1 IFT80 IFT172 IFT140 DYNC2LI1
7 centriole GO:0005814 9.85 KIAA0753 IFT140 DYNC2I2 CEP120
8 cytoplasmic dynein complex GO:0005868 9.8 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 motile cilium GO:0031514 9.76 WDR19 DYNC2LI1 DYNC2H1
10 intraciliary transport particle A GO:0030991 9.76 WDR35 WDR19 TTC21B IFT140
11 axoneme GO:0005930 9.76 WDR35 TRAF3IP1 IFT172 IFT140 DYNLT2B DYNC2LI1
12 apical part of cell GO:0045177 9.73 DYNC2LI1 DYNC2H1 ABCG5
13 ciliary base GO:0097546 9.71 TRAF3IP1 DYNLT2B DYNC2I1
14 ciliary tip GO:0097542 9.7 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
15 intraciliary transport particle B GO:0030992 9.67 TRAF3IP1 IFT80 IFT172
16 pericentriolar material GO:0000242 9.58 NEK1 DYNC2I1
17 ciliary plasm GO:0097014 9.52 DYNC2I2 DYNC2I1
18 interphase microtubule organizing center GO:0031021 9.51 DYNLT2B DYNC2I1
19 cilium GO:0005929 9.47 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172

Biological processes related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.92 WDR35 WDR19 TRAF3IP1 NEK1 IFT140 DYNC2LI1
2 intraciliary retrograde transport GO:0035721 9.81 WDR35 WDR19 TTC21B IFT140 DYNLT2B DYNC2LI1
3 smoothened signaling pathway GO:0007224 9.8 WDR19 TTC21B IFT80 IFT172 EVC2
4 non-motile cilium assembly GO:1905515 9.77 IFT80 IFT172 IFT140 DYNC2H1 BBS10
5 determination of left/right symmetry GO:0007368 9.76 IFT172 IFT140 DYNC2LI1 DYNC2H1
6 protein localization to cilium GO:0061512 9.73 WDR35 TTC21B IFT140 DYNC2H1
7 intraciliary transport GO:0042073 9.73 WDR35 TRAF3IP1 IFT172 IFT140 DYNC2I2 DYNC2I1
8 microtubule-based movement GO:0007018 9.7 DYNC2I2 DYNC2I1 DYNC2H1
9 intraciliary transport involved in cilium assembly GO:0035735 9.7 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT172
10 regulation of cilium assembly GO:1902017 9.69 IFT140 DYNLT2B DYNC2LI1
11 regulation of smoothened signaling pathway GO:0008589 9.65 TTC21B IFT172 IFT140
12 spinal cord motor neuron differentiation GO:0021522 9.55 IFT172 DYNC2H1
13 embryonic camera-type eye development GO:0031076 9.54 WDR19 IFT140
14 regulation of intraciliary retrograde transport GO:1905799 9.49 TTC21B DYNLT2B
15 cilium assembly GO:0060271 9.4 WDR35 WDR19 TRAF3IP1 NEK1 IFT80 IFT172

Molecular functions related to Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.16 DYNLT2B DYNC2H1
2 dynein light chain binding GO:0045503 8.96 DYNC2I2 DYNC2I1
3 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 1 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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