MCID: SHR074
MIFTS: 53

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly

Categories: Rare diseases, Nephrological diseases, Respiratory diseases, Bone diseases, Fetal diseases, Genetic 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
Asphyxiating Thoracic Dystrophy 1 57 12 13 15
Jeune Syndrome 57 76 53 59
Srtd1 57 12
Atd1 57 12
Dysplasia, Short-Rib Thoracic, Type 1, with/without Polydactyly 40
Asphyxiating Thoracic Dystrophy of the Newborn 59
Chondroectodermal Dysplasia-Like Syndrome 53
Asphyxiating Thoracic Dystrophy 1; Atd1 57
Jeune Asphyxiating Thoracic Dystrophy 59
Thoracic-Pelvic-Phalangeal Dystrophy 57
Thoracic Pelvic Phalangeal Dystrophy 53
Asphyxiating Thoracic Dystrophy 53
Infantile Thoracic Dystrophy 53
Jeune Thoracic Dystrophy 73
Jeune's Syndrome 53
Jatd 59
Atd 53

Characteristics:

Orphanet epidemiological data:

59
jeune syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
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:

32
short-rib thoracic dysplasia 1 with or without polydactyly:
Mortality/Aging death in infancy
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 1, is related to short-rib thoracic dysplasia 12 and short-rib thoracic dysplasia 9 with or without polydactyly, and has symptoms including icterus An important gene associated with Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, kidney and heart, and related phenotypes are respiratory insufficiency and skeletal dysplasia

NIH Rare Diseases : 53 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.

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

Wikipedia : 76 Asphyxiating thoracic dysplasia or Jeune syndrome is a ciliopathy.[citation needed]It is also known as... more...

Related Diseases for Short-Rib Thoracic Dysplasia 1 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 all 27)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 12 31.2 EVC2 IFT80 TTC21B WDR19
2 short-rib thoracic dysplasia 9 with or without polydactyly 31.1 IFT140 IFT172
3 short-rib thoracic dysplasia 6 with or without polydactyly 30.8 DYNC2H1 EVC2 IFT80 TRAF3IP1 TTC21B
4 short-rib thoracic dysplasia 2 with or without polydactyly 29.0 CEBPB FOSB IFT80 SMOX
5 short-rib thoracic dysplasia 3 with or without polydactyly 28.8 CEP120 DYNC2H1 DYNC2LI1 IFT80 TTC21B WDR19
6 asphyxiating thoracic dystrophy 26.7 ATD CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140
7 jeune syndrome situs inversus 12.0
8 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.0
9 short-rib thoracic dysplasia 4 with or without polydactyly 10.8
10 short-rib thoracic dysplasia 7 with or without polydactyly 10.8
11 short-rib thoracic dysplasia 5 with or without polydactyly 10.8
12 short-rib thoracic dysplasia 8 with or without polydactyly 10.8
13 short-rib thoracic dysplasia 10 with or without polydactyly 10.8
14 short-rib thoracic dysplasia 11 with or without polydactyly 10.8
15 short-rib thoracic dysplasia 14 with polydactyly 10.8
16 short-rib thoracic dysplasia 15 with polydactyly 10.8
17 short-rib thoracic dysplasia 16 with or without polydactyly 10.8
18 short-rib thoracic dysplasia 17 with or without polydactyly 10.8
19 short-rib thoracic dysplasia 18 with polydactyly 10.8
20 short-rib thoracic dysplasia 19 with or without polydactyly 10.8
21 senior-loken syndrome 1 10.0 IFT140 TRAF3IP1 TTC21B WDR19
22 nephronophthisis 9.6 IFT172 TRAF3IP1 TTC21B WDR19
23 polydactyly 9.5 DYNC2H1 DYNC2LI1 WDR34 WDR35 WDR60
24 cranioectodermal dysplasia 1 9.4 DYNC2H1 IFT140 IFT80 TRAF3IP1 TTC21B WDR19
25 joubert syndrome 1 9.2 CEP120 IFT140 IFT172 KIAA0753 TTC21B
26 cleft lip/palate 7.8 CEP120 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80
27 ellis-van creveld syndrome 7.7 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT172 IFT80

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
recurrent respiratory infections
pulmonary hypoplasia
pulmonary insufficiency

Laboratory Abnormalities:
proteinuria
hyperbilirubinemia, direct

Skin Nails Hair Skin:
jaundice

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

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

Abdomen Pancreas:
pancreatic cysts
pancreatic fibrosis

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

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

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
2 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
3 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
4 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
5 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
6 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
8 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
9 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
10 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
11 cone-shaped epiphysis 59 32 frequent (33%) Frequent (79-30%) HP:0010579
12 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
13 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
14 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
15 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
16 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
17 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
18 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
19 abnormality of the liver 59 32 occasional (7.5%) Occasional (29-5%) HP:0001392
20 nephronophthisis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000090
21 abnormality of the sternum 59 32 frequent (33%) Frequent (79-30%) HP:0000766
22 postaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001162
23 postaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001830
24 aplasia/hypoplasia of the lungs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006703
25 recurrent respiratory infections 32 HP:0002205
26 proteinuria 32 HP:0000093
27 hepatic fibrosis 32 HP:0001395
28 jaundice 32 HP:0000952
29 hypoplastic iliac wing 32 HP:0002866
30 pancreatic cysts 32 HP:0001737
31 hand polydactyly 32 HP:0001161
32 foot polydactyly 32 HP:0001829
33 hypoplastic pelvis 32 HP:0008839
34 pancreatic fibrosis 32 HP:0100732
35 hypoplasia of the ulna 32 HP:0003022
36 pulmonary hypoplasia 32 HP:0002089
37 renal cyst 32 HP:0000107
38 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
39 short phalanx of finger 32 HP:0009803
40 conjugated hyperbilirubinemia 32 HP:0002908
41 fibular hypoplasia 32 HP:0003038
42 irregular epiphyses 32 HP:0010582
43 short ribs 32 HP:0000773
44 retinal degeneration 32 HP:0000546
45 chronic kidney disease 32 HP:0012622
46 polycystic liver disease 32 HP:0006557
47 pulmonary insufficiency 32 HP:0010444
48 metaphyseal irregularity 32 HP:0003025
49 early ossification of capital femoral epiphyses 32 HP:0008797
50 bile duct proliferation 32 HP:0001408

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 10.29 CEBPB CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140
2 growth/size/body region MP:0005378 10.18 CEP120 DYNC2H1 DYNC2LI1 EVC2 FOSB IFT140
3 embryo MP:0005380 10.13 TRAF3IP1 TTC21B WDR19 WDR35 CEP120 DYNC2H1
4 mortality/aging MP:0010768 10.13 CEBPB CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140
5 craniofacial MP:0005382 10.11 CEBPB DYNC2H1 EVC2 IFT140 IFT172 IFT80
6 limbs/digits/tail MP:0005371 10.11 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172 IFT80
7 nervous system MP:0003631 10 AIF1 CEP120 DYNC2H1 DYNC2LI1 FOSB IFT140
8 renal/urinary system MP:0005367 9.7 CEBPB DYNC2H1 IFT140 IFT172 IFT80 LBR
9 skeleton MP:0005390 9.7 CEBPB DYNC2H1 EVC2 IFT140 IFT172 IFT80
10 vision/eye MP:0005391 9.28 DYNC2H1 IFT140 IFT172 IFT80 LBR TRAF3IP1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

41
Bone, Kidney, Heart, Liver, Lung, Eye, Pancreas

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

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

(show all 30)
# Title Authors Year
1
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. ( 28422394 )
2017
2
DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. ( 28257607 )
2017
3
Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case. ( 27665332 )
2016
4
One-stage sequential bilateral thoracic expansion for asphyxiating thoracic dystrophy (Jeune syndrome). ( 24599166 )
2014
5
Prenatal ultrasound and MRI Diagnosis of Jeune syndrome type I (asphyxiating thoracic dystrophy) with histology and post-mortem three-dimensional CT confirmation. ( 22594482 )
2013
6
Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. ( 23985472 )
2013
7
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. ( 24009529 )
2013
8
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. ( 23910462 )
2013
9
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. ( 23456818 )
2013
10
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). ( 22554078 )
2012
11
Case report: anesthesia in patients with asphyxiating thoracic dystrophy: Jeune syndrome. ( 22656687 )
2012
12
Jeune syndrome with neonatal cholestasis. ( 21369926 )
2011
13
Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy). ( 21465651 )
2011
14
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. ( 19610081 )
2009
15
Jeune syndrome. ( 19017845 )
2008
16
The prenatal detection of Jeune syndrome (asphyxiating thoracic dystrophy). Case report. ( 19292094 )
2006
17
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). ( 12800072 )
2003
18
A family with Jeune syndrome. ( 11519890 )
2001
19
Prenatal sonographic findings associated with asphyxiating thoracic dystrophy (Jeune syndrome). ( 10447085 )
1999
20
Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. ( 10532174 )
1999
21
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark? ( 8723090 )
1996
22
A case of Jeune syndrome (asphyxiating thoracic dystrophy). ( 17586875 )
1994
23
Jeune syndrome and cystinuria. ( 1776649 )
1991
24
Clinical quiz. Asphyxiating thoracic dystrophy (Jeune syndrome). ( 2242331 )
1990
25
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? ( 2325105 )
1990
26
Mild form of Jeune syndrome in two sisters. ( 2309769 )
1990
27
Jeune syndrome associated with cystinuria: report of two sisters. ( 2260554 )
1990
28
Direct hyperbilirubinemia and hepatic fibrosis: a new presentation of Jeune syndrome (asphyxiating thoracic dystrophy). ( 3130856 )
1987
29
Prenatal sonographic diagnosis of Jeune syndrome. ( 3881799 )
1985
30
The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult. ( 1190257 )
1975

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 1026)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh37 Chromosome 16, 1642177: 1642177
2 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh38 Chromosome 16, 1592176: 1592176
3 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh38 Chromosome 16, 1520005: 1520005
4 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh37 Chromosome 16, 1570006: 1570006
5 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh37 Chromosome 11, 102988581: 102988581
6 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh38 Chromosome 11, 103117852: 103117852
7 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
8 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh38 Chromosome 2, 19941796: 19941796
9 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh37 Chromosome 9, 131397005: 131397005
10 WDR34 NM_052844.3(WDR34): c.1177G> A (p.Gly393Ser) single nucleotide variant Pathogenic rs587777096 GRCh38 Chromosome 9, 128634726: 128634726
11 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
12 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh38 Chromosome 16, 1587961: 1587961
13 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh37 Chromosome 4, 39274682: 39274682
14 WDR19 NM_025132.3(WDR19): c.3565+1G> A single nucleotide variant Pathogenic rs587777352 GRCh38 Chromosome 4, 39273062: 39273062
15 DYNC2H1 NM_001080463.1(DYNC2H1): c.5821G> C (p.Ala1941Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs368058473 GRCh37 Chromosome 11, 103047110: 103047110
16 DYNC2H1 NM_001080463.1(DYNC2H1): c.5821G> C (p.Ala1941Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs368058473 GRCh38 Chromosome 11, 103176381: 103176381
17 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh37 Chromosome 11, 103046984: 103046984
18 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh38 Chromosome 11, 103176255: 103176255
19 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh37 Chromosome 4, 39254828: 39254828
20 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh38 Chromosome 4, 39253208: 39253208
21 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh37 Chromosome 11, 103047007: 103047007
22 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh38 Chromosome 11, 103176278: 103176278
23 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh37 Chromosome 11, 103019260: 103019260
24 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh38 Chromosome 11, 103148531: 103148531
25 DYNC2H1 NM_001080463.1(DYNC2H1): c.3500A> G (p.His1167Arg) single nucleotide variant Uncertain significance rs185613200 GRCh37 Chromosome 11, 103025465: 103025465
26 DYNC2H1 NM_001080463.1(DYNC2H1): c.3500A> G (p.His1167Arg) single nucleotide variant Uncertain significance rs185613200 GRCh38 Chromosome 11, 103154736: 103154736
27 DYNC2H1 NM_001080463.1(DYNC2H1): c.3995T> G (p.Leu1332Arg) single nucleotide variant Uncertain significance rs786204078 GRCh37 Chromosome 11, 103027367: 103027367
28 DYNC2H1 NM_001080463.1(DYNC2H1): c.3995T> G (p.Leu1332Arg) single nucleotide variant Uncertain significance rs786204078 GRCh38 Chromosome 11, 103156638: 103156638
29 DYNC2H1 NM_001080463.1(DYNC2H1): c.10258C> G (p.Pro3420Ala) single nucleotide variant Uncertain significance rs786204223 GRCh38 Chromosome 11, 103255445: 103255445
30 DYNC2H1 NM_001080463.1(DYNC2H1): c.10258C> G (p.Pro3420Ala) single nucleotide variant Uncertain significance rs786204223 GRCh37 Chromosome 11, 103126174: 103126174
31 DYNC2H1 NM_001080463.1(DYNC2H1): c.12577G> A (p.Glu4193Lys) single nucleotide variant Uncertain significance rs764491760 GRCh38 Chromosome 11, 103455285: 103455285
32 DYNC2H1 NM_001080463.1(DYNC2H1): c.12577G> A (p.Glu4193Lys) single nucleotide variant Uncertain significance rs764491760 GRCh37 Chromosome 11, 103326013: 103326013
33 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh37 Chromosome 11, 102980336: 102980336
34 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh38 Chromosome 11, 103109607: 103109607
35 IFT80 NM_020800.2(IFT80): c.1076C> T (p.Ser359Phe) single nucleotide variant Benign/Likely benign rs144099135 GRCh37 Chromosome 3, 160025451: 160025451
36 IFT80 NM_020800.2(IFT80): c.1076C> T (p.Ser359Phe) single nucleotide variant Benign/Likely benign rs144099135 GRCh38 Chromosome 3, 160307663: 160307663
37 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh37 Chromosome 11, 103004335: 103004335
38 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh38 Chromosome 11, 103133606: 103133606
39 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh37 Chromosome 2, 166773969: 166773969
40 TTC21B NM_024753.4(TTC21B): c.1697A> G (p.His566Arg) single nucleotide variant Uncertain significance rs146320075 GRCh38 Chromosome 2, 165917459: 165917459
41 IFT80 NM_020800.2(IFT80): c.1883G> A (p.Arg628Gln) single nucleotide variant Uncertain significance rs150370681 GRCh37 Chromosome 3, 159995412: 159995412
42 IFT80 NM_020800.2(IFT80): c.1883G> A (p.Arg628Gln) single nucleotide variant Uncertain significance rs150370681 GRCh38 Chromosome 3, 160277624: 160277624
43 TTC21B NM_024753.4(TTC21B): c.2569-5dupT duplication Benign/Likely benign rs144600502 GRCh37 Chromosome 2, 166758425: 166758425
44 TTC21B NM_024753.4(TTC21B): c.2569-5dupT duplication Benign/Likely benign rs144600502 GRCh38 Chromosome 2, 165901915: 165901915
45 TTC21B NM_024753.4(TTC21B): c.2587C> T (p.Arg863Trp) single nucleotide variant Uncertain significance rs34489989 GRCh37 Chromosome 2, 166758402: 166758402
46 TTC21B NM_024753.4(TTC21B): c.2587C> T (p.Arg863Trp) single nucleotide variant Uncertain significance rs34489989 GRCh38 Chromosome 2, 165901892: 165901892
47 EVC2 NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs) deletion Pathogenic rs750396637 GRCh37 Chromosome 4, 5570317: 5570323
48 EVC2 NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs) deletion Pathogenic rs750396637 GRCh38 Chromosome 4, 5568590: 5568596
49 DYNC2H1 NM_001080463.1(DYNC2H1): c.3015A> G (p.Leu1005=) single nucleotide variant Benign/Likely benign rs201310509 GRCh37 Chromosome 11, 103022933: 103022933
50 DYNC2H1 NM_001080463.1(DYNC2H1): c.3015A> G (p.Leu1005=) single nucleotide variant Benign/Likely benign rs201310509 GRCh38 Chromosome 11, 103152204: 103152204

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
12.42 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TRAF3IP1
2
Show member pathways
12.24 DYNC2H1 EVC2 IFT140 IFT172 TTC21B WDR19
3 10.98 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TRAF3IP1

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 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 AIF1 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172
2 microtubule organizing center GO:0005815 9.92 CEP120 DYNC2LI1 IFT140 KIAA0753 WDR35
3 ciliary basal body GO:0036064 9.88 DYNC2LI1 IFT140 IFT172 TRAF3IP1 WDR34 WDR35
4 axoneme GO:0005930 9.8 DYNC2H1 DYNC2LI1 IFT140 IFT172 TRAF3IP1 WDR34
5 dynein complex GO:0030286 9.78 DYNC2H1 DYNC2LI1 WDR34 WDR60
6 cytoplasmic dynein complex GO:0005868 9.76 DYNC2H1 DYNC2LI1 WDR34 WDR60
7 cilium GO:0005929 9.73 DYNC2H1 DYNC2LI1 EVC2 IFT140 IFT172 IFT80
8 centriole GO:0005814 9.72 CEP120 KIAA0753 WDR34
9 motile cilium GO:0031514 9.71 DYNC2H1 DYNC2LI1 WDR19
10 intraciliary transport particle B GO:0030992 9.67 IFT172 IFT80 TRAF3IP1
11 intraciliary transport particle A GO:0030991 9.67 IFT140 TTC21B WDR19 WDR35
12 ciliary transition zone GO:0035869 9.58 DYNC2LI1 TRAF3IP1
13 ciliary base GO:0097546 9.57 TRAF3IP1 WDR60
14 non-motile cilium GO:0097730 9.56 IFT140 WDR19
15 ciliary tip GO:0097542 9.36 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TRAF3IP1
16 cytoplasm GO:0005737 10.39 AIF1 CEBPB CEP120 DYNC2H1 DYNC2LI1 EVC2
17 cytoskeleton GO:0005856 10.13 AIF1 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT140
18 centrosome GO:0005813 10.03 CEP120 DYNC2LI1 IFT140 IFT80 KIAA0753 TRAF3IP1

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 cilium assembly GO:0060271 9.85 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TRAF3IP1
2 cell projection organization GO:0030030 9.8 DYNC2H1 DYNC2LI1 IFT140 TRAF3IP1 WDR19 WDR35
3 determination of left/right symmetry GO:0007368 9.73 DYNC2H1 DYNC2LI1 IFT140 IFT172
4 microtubule-based movement GO:0007018 9.71 DYNC2H1 WDR34 WDR60
5 smoothened signaling pathway GO:0007224 9.71 EVC2 IFT172 TTC21B WDR19
6 non-motile cilium assembly GO:1905515 9.67 DYNC2H1 IFT140 IFT172
7 regulation of smoothened signaling pathway GO:0008589 9.65 IFT140 IFT172 TTC21B
8 intraciliary transport GO:0042073 9.63 IFT140 TRAF3IP1 WDR34
9 protein localization to cilium GO:0061512 9.62 DYNC2H1 IFT140 TTC21B WDR35
10 positive regulation of smoothened signaling pathway GO:0045880 9.55 DYNC2H1 IFT172
11 embryonic camera-type eye development GO:0031076 9.54 IFT140 TRAF3IP1 WDR19
12 spinal cord motor neuron differentiation GO:0021522 9.52 DYNC2H1 IFT172
13 neural tube patterning GO:0021532 9.51 IFT140 TRAF3IP1
14 intraciliary retrograde transport GO:0035721 9.43 DYNC2H1 DYNC2LI1 IFT140 TTC21B WDR19 WDR35
15 intraciliary transport involved in cilium assembly GO:0035735 9.36 DYNC2H1 DYNC2LI1 IFT140 IFT172 IFT80 TRAF3IP1

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 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 WDR34 WDR60
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2H1 DYNC2LI1
3 dynein light chain binding GO:0045503 9.13 DYNC2H1 WDR34 WDR60
4 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 WDR34 WDR60

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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