MCID: SHR072
MIFTS: 55

Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 57 12 75 29 6
Saldino-Noonan Syndrome 57 12 53 75 15 73
Asphyxiating Thoracic Dystrophy 3 57 12 75 13 15
Short Rib-Polydactyly Syndrome, Type Iib 57 12 13
Verma-Naumoff Syndrome 57 12 75
Srps2b 57 12 75
Srtd3 57 12 75
Srps1 57 12 75
Srps3 57 12 75
Atd3 57 12 75
Polydactyly with Neonatal Chondrodystrophy, Type Iii 57 12
Polydactyly with Neonatal Chondrodystrophy Type Iii 53 75
Polydactyly with Neonatal Chondrodystrophy, Type I 57 12
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type 59 73
Short Rib-Polydactyly Syndrome, Type Iii 57 13
Short Rib-Polydactyly Syndrome Type Iii 53 75
Short Rib-Polydactyly Syndrome, Type I 57 12
Short Rib-Polydactyly Syndrome Type 3 53 59
Short Rib-Polydactyly Syndrome Type 1 53 59
Majewski Syndrome 75 73
Dysplasia, Short-Rib Thoracic, Type 3, with or Without Polydactyly 40
Short Rib-Polydactyly Syndrome, Saldino-Noonan Type 59
Short Rib-Polydactyly Syndrome Saldino-Noonan Type 53
Short Rib Polydactyly Syndrome Verma Naumoff Type 53
Polydactyly with Neonatal Chondrodystrophy Type 1 53
Polydactyly with Neonatal Chondrodystrophy Type I 75
Short Rib-Polydactyly Syndrome, Type Iib; Srps2b 57
Short Rib-Polydactyly Syndrome, Type Iii; Srps3 57
Short Rib-Polydactyly Syndrome, Type I; Srps1 57
Asphyxiating Thoracic Dystrophy 3; Atd3 57
Short Rib-Polydactyly Syndrome Type Iib 75
Short-Rib Polydactyly Syndrome Type Iii 6
Type I Short Rib Polydactyly Syndrome 12
Jeune Asphyxiating Thoracic Dystrophy 75
Short Rib-Polydactyly Syndrome Type I 75
Short-Rib Polydactyly Syndrome Type I 6
Verma Naumoff Syndrome 53
Jeune Syndrome 3 75
Srps Type Iib 75
Srps Type Iii 75
Srps Type 3 53
Srps Type 1 53
Jatd 75

Characteristics:

Orphanet epidemiological data:

59
short rib-polydactyly syndrome, verma-naumoff type
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (United Arab Emirates); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;
short rib-polydactyly syndrome, saldino-noonan type
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive
digenic recessive

Miscellaneous:
digenic form caused by heterozygous mutations in both nek1 and dyn2ch1
variable severity, even within families
thoracic abnormalities tend to improve with age
very low occurrence of retinal, hepatic, pancreatic, and renal anomalies


HPO:

32
short-rib thoracic dysplasia 3 with or without polydactyly:
Inheritance autosomal recessive inheritance digenic inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 3 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). (613091)

MalaCards based summary : Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly, also known as saldino-noonan syndrome, is related to short-rib thoracic dysplasia 6 with or without polydactyly and polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 3 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 kidney, bone and heart, and related phenotypes are macrocephaly and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 3 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93271Disease definitionShort rib-polydactylysyndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.Visit the Orphanet disease page for more resources.

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

Related Diseases for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 6 with or without polydactyly 29.2 DYNC2H1 EVC IFT122 IFT80 NEK1 TCTN3
2 polydactyly 28.5 DYNC2H1 DYNC2LI1 NEK1 TCTEX1D2 WDR34 WDR35
3 short-rib thoracic dysplasia 1 with or without polydactyly 27.3 CEP120 DYNC2H1 DYNC2LI1 IFT80 TTC21B WDR19
4 zerres rietschel majewski syndrome 11.9
5 orofaciodigital syndrome iv 11.8
6 lenz-majewski hyperostotic dwarfism 11.2
7 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.0
8 short-rib thoracic dysplasia 2 with or without polydactyly 10.9
9 short-rib thoracic dysplasia 4 with or without polydactyly 10.9
10 short-rib thoracic dysplasia 5 with or without polydactyly 10.9
11 bosma arhinia microphthalmia syndrome 10.9
12 noonan syndrome 1 10.4
13 pseudo-turner syndrome 10.4
14 short-rib thoracic dysplasia 10 with or without polydactyly 10.2
15 hemophagocytic lymphohistiocytosis, familial, 1 10.1 IFT122 WDR35
16 type i 10.1
17 hemophagocytic lymphohistiocytosis, familial, 2 10.0 IFT122 WDR35
18 bardet-biedl syndrome 13 9.9 BBS10 TTC21B
19 short-rib thoracic dysplasia 12 9.1 IFT122 IFT80 NEK1 TTC21B WDR19
20 cranioectodermal dysplasia 1 8.7 DYNC2H1 IFT122 IFT80 TTC21B WDR19 WDR35
21 joubert syndrome 1 8.6 CEP120 KIAA0586 TCTN3 TTC21B
22 cleft lip/palate 6.3 CEP120 DYNC2H1 DYNC2LI1 IFT80 KIAA0586 NEK1
23 ellis-van creveld syndrome 6.2 CEP120 DYNC2H1 DYNC2LI1 EVC IFT80 NEK1
24 asphyxiating thoracic dystrophy 4.3 CEP120 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Skeletal Pelvis:
small ilia
acetabular spurs

Chest External Features:
small thorax

Neurologic Central Nervous System:
corpus callosum agenesis (rare)
cerebellar cyst (rare)

Head And Neck Mouth:
cleft lip/palate (in some patients)
lingual hamartoma (rare)
bifid tongue (rare)

Abdomen Gastrointestinal:
intestinal malrotation (rare)
anal atresia (in some patients)

Growth Height:
short stature (in childhood)

Respiratory:
respiratory problems due to small thorax

Abdomen Liver:
biliary dysplasia (rare)

Laboratory Abnormalities:
defect in retrograde intraflagellar transport in cilia

Skeletal Hands:
brachydactyly
cone-shaped epiphyses
polysyndactyly
postaxial polydactyly (in some patients)

Genitourinary Kidneys:
dysplastic kidneys
polycystic kidneys
enlarged kidneys

Skeletal Limbs:
widened metaphyses
bowed femurs
shortened femurs
shortened long bones
metaphyseal spurs
more
Chest Ribs Sternum Clavicles And Scapulae:
handlebar clavicles
shortened ribs
horizontally oriented ribs

Genitourinary External Genitalia Male:
micropenis (in some patients)
ambiguous genitalia (in some patients)
cloacal developmental abnormalities (rare)

Skeletal Feet:
club feet (rare)
postaxial polydactyly (in some patients)
preaxial polydactyly (in some patients)
polysyndactyly (rare)

Cardiovascular Heart:
transposition of the great vessels (rare)

Respiratory Lung:
abnormal lung lobulation (rare)

Abdomen Pancreas:
cystic pancreas (rare)


Clinical features from OMIM:

613091

Human phenotypes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
3 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
4 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
5 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
6 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
7 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
10 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
11 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
12 short palm 59 32 hallmark (90%) Very frequent (99-80%) HP:0004279
13 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
14 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
15 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
16 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
17 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
18 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
19 congenital hepatic fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0002612
20 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
21 renal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000089
22 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
23 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
24 ambiguous genitalia 59 32 occasional (7.5%) Frequent (79-30%) HP:0000062
25 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
26 cleft upper lip 59 32 occasional (7.5%) Frequent (79-30%) HP:0000204
27 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
28 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
29 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
30 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
31 dandy-walker malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001305
32 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
33 esophageal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002032
34 ectopic anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004397
35 facial cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0002006
36 pulmonary hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002089
37 renal cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000107
38 abnormal pelvis bone ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0009106
39 uterus didelphys 59 32 frequent (33%) Frequent (79-30%) HP:0003762
40 bifid tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010297
41 lethal skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005716
42 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773
43 urethrovaginal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0008716
44 absent or minimally ossified vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0004599
45 bifid epiglottis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010564
46 scoliosis 32 HP:0002650
47 short stature 32 HP:0004322
48 cleft palate 32 occasional (7.5%) HP:0000175
49 malformation of the heart and great vessels 59 Frequent (79-30%)
50 cone-shaped epiphysis 32 HP:0010579

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 BBS10 CEP120 DYNC2H1 DYNC2LI1 EVC IFT122
2 growth/size/body region MP:0005378 10.02 BBS10 CEP120 DYNC2H1 DYNC2LI1 EVC IFT122
3 craniofacial MP:0005382 10.01 WDR19 DYNC2H1 EVC IFT122 IFT80 KIAA0586
4 embryo MP:0005380 9.97 CEP120 DYNC2H1 DYNC2LI1 IFT122 KIAA0586 TTC21B
5 limbs/digits/tail MP:0005371 9.96 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80 KIAA0586
6 mortality/aging MP:0010768 9.9 NEK1 BBS10 CEP120 DYNC2H1 DYNC2LI1 EVC
7 nervous system MP:0003631 9.61 BBS10 CEP120 DYNC2H1 DYNC2LI1 IFT122 KIAA0586
8 skeleton MP:0005390 9.32 DYNC2H1 EVC IFT80 KIAA0586 NEK1 TCTEX1D2

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Primary TKA Cruciate Retaining vs Cruciate Substituting With Rotating Platform Knee Prostheses Terminated NCT00289081 Not Applicable

Search NIH Clinical Center for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 29 DYNC2H1

Anatomical Context for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

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

Publications for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

# Title Authors Year
1
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in aA fetus. ( 29458881 )
2018
2
Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). ( 15876604 )
2005
3
Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). ( 1802845 )
1991
4
Oral abnormalities in the Saldino-Noonan syndrome. ( 6402845 )
1983
5
Midtrimester prenatal diagnosis of short-limb dwarfism (Saldino-Noonan syndrome). ( 7126786 )
1982

Variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

75 (show all 35)
# Symbol AA change Variation ID SNP ID
1 DYNC2H1 p.Phe209Ile VAR_063242 rs771511132
2 DYNC2H1 p.Arg587Cys VAR_063243 rs137853030
3 DYNC2H1 p.Ile1240Thr VAR_063244 rs137853028
4 DYNC2H1 p.Gln1537Arg VAR_063245 rs137853033
5 DYNC2H1 p.Thr1987Ala VAR_063246 rs137853035
6 DYNC2H1 p.Met1991Leu VAR_063247 rs137853025
7 DYNC2H1 p.Arg2205His VAR_063248 rs137853031
8 DYNC2H1 p.Gly2461Val VAR_063249 rs137853034
9 DYNC2H1 p.Asp3015Gly VAR_063250 rs137853027
10 DYNC2H1 p.Leu3762Val VAR_063251
11 DYNC2H1 p.Arg330Cys VAR_069591 rs397514637
12 DYNC2H1 p.Arg338Gly VAR_069592
13 DYNC2H1 p.Arg430Cys VAR_069593 rs374073337
14 DYNC2H1 p.Lys495Arg VAR_069594
15 DYNC2H1 p.Leu871Pro VAR_069595
16 DYNC2H1 p.Leu1228Ile VAR_069596 rs189806840
17 DYNC2H1 p.Met1379Val VAR_069597
18 DYNC2H1 p.Arg1423Cys VAR_069598 rs745870321
19 DYNC2H1 p.Gly1442Asp VAR_069599 rs763571787
20 DYNC2H1 p.Met1991Lys VAR_069600
21 DYNC2H1 p.Met2227Val VAR_069601 rs750249486
22 DYNC2H1 p.Ala2304Thr VAR_069602 rs747348765
23 DYNC2H1 p.Asn2362Ser VAR_069603
24 DYNC2H1 p.Arg2481Gln VAR_069604 rs781326398
25 DYNC2H1 p.Pro2496Ser VAR_069605 rs397514636
26 DYNC2H1 p.Arg2532Trp VAR_069606
27 DYNC2H1 p.Val2555Met VAR_069607
28 DYNC2H1 p.Tyr2573Cys VAR_069608
29 DYNC2H1 p.Ile2640Thr VAR_069609
30 DYNC2H1 p.Arg2662Gln VAR_069610 rs397514635
31 DYNC2H1 p.Ile2819Met VAR_069611
32 DYNC2H1 p.Pro3381Leu VAR_069612 rs368631447
33 DYNC2H1 p.Arg3806Cys VAR_069613 rs754753584
34 DYNC2H1 p.Trp3847Gly VAR_069614 rs752554582
35 DYNC2H1 p.Leu4232Arg VAR_069616

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly:

6
(show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC2H1 NM_001080463.1(DYNC2H1): c.5971A> T (p.Met1991Leu) single nucleotide variant Pathogenic rs137853025 GRCh37 Chromosome 11, 103048381: 103048381
2 DYNC2H1 NM_001080463.1(DYNC2H1): c.5971A> T (p.Met1991Leu) single nucleotide variant Pathogenic rs137853025 GRCh38 Chromosome 11, 103177652: 103177652
3 DYNC2H1 NM_001080463.1(DYNC2H1) insertion Pathogenic GRCh37 Chromosome 11, 102987303: 102987331
4 DYNC2H1 NM_001080463.1(DYNC2H1) insertion Pathogenic GRCh38 Chromosome 11, 103116574: 103116602
5 DYNC2H1 NM_001080463.1(DYNC2H1): c.3719T> C (p.Ile1240Thr) single nucleotide variant Pathogenic rs137853028 GRCh37 Chromosome 11, 103026205: 103026205
6 DYNC2H1 NM_001080463.1(DYNC2H1): c.3719T> C (p.Ile1240Thr) single nucleotide variant Pathogenic rs137853028 GRCh38 Chromosome 11, 103155476: 103155476
7 DYNC2H1 NM_001080463.1(DYNC2H1): c.10063G> T (p.Gly3355Ter) single nucleotide variant Pathogenic rs137853029 GRCh37 Chromosome 11, 103116103: 103116103
8 DYNC2H1 NM_001080463.1(DYNC2H1): c.10063G> T (p.Gly3355Ter) single nucleotide variant Pathogenic rs137853029 GRCh38 Chromosome 11, 103245374: 103245374
9 DYNC2H1 NM_001080463.1(DYNC2H1): c.1759C> T (p.Arg587Cys) single nucleotide variant Pathogenic rs137853030 GRCh37 Chromosome 11, 102995926: 102995926
10 DYNC2H1 NM_001080463.1(DYNC2H1): c.1759C> T (p.Arg587Cys) single nucleotide variant Pathogenic rs137853030 GRCh38 Chromosome 11, 103125197: 103125197
11 DYNC2H1 NM_001080463.1(DYNC2H1): c.8512C> T (p.Arg2838Ter) single nucleotide variant Pathogenic rs137853032 GRCh37 Chromosome 11, 103080662: 103080662
12 DYNC2H1 NM_001080463.1(DYNC2H1): c.8512C> T (p.Arg2838Ter) single nucleotide variant Pathogenic rs137853032 GRCh38 Chromosome 11, 103209933: 103209933
13 DYNC2H1 NM_001080463.1(DYNC2H1): c.624_625delGTinsAA (p.Phe209Ile) indel Pathogenic rs431905498 GRCh38 Chromosome 11, 103116572: 103116573
14 DYNC2H1 NM_001080463.1(DYNC2H1): c.624_625delGTinsAA (p.Phe209Ile) indel Pathogenic rs431905498 GRCh37 Chromosome 11, 102987301: 102987302
15 DYNC2H1 NM_001080463.1(DYNC2H1): c.5151+1G> T single nucleotide variant Pathogenic rs431905499 GRCh37 Chromosome 11, 103041020: 103041020
16 DYNC2H1 NM_001080463.1(DYNC2H1): c.5151+1G> T single nucleotide variant Pathogenic rs431905499 GRCh38 Chromosome 11, 103170291: 103170291
17 DYNC2H1 NM_001080463.1(DYNC2H1): c.4610A> G (p.Gln1537Arg) single nucleotide variant Pathogenic rs137853033 GRCh37 Chromosome 11, 103033875: 103033875
18 DYNC2H1 NM_001080463.1(DYNC2H1): c.4610A> G (p.Gln1537Arg) single nucleotide variant Pathogenic rs137853033 GRCh38 Chromosome 11, 103163146: 103163146
19 DYNC2H1 NM_001080463.1(DYNC2H1): c.7382G> T (p.Gly2461Val) single nucleotide variant Pathogenic rs137853034 GRCh37 Chromosome 11, 103060490: 103060490
20 DYNC2H1 NM_001080463.1(DYNC2H1): c.7382G> T (p.Gly2461Val) single nucleotide variant Pathogenic rs137853034 GRCh38 Chromosome 11, 103189761: 103189761
21 DYNC2H1 NM_001080463.1(DYNC2H1): c.5959A> G (p.Thr1987Ala) single nucleotide variant Likely pathogenic rs137853035 GRCh37 Chromosome 11, 103048369: 103048369
22 DYNC2H1 NM_001080463.1(DYNC2H1): c.5959A> G (p.Thr1987Ala) single nucleotide variant Likely pathogenic rs137853035 GRCh38 Chromosome 11, 103177640: 103177640
23 DYNC2H1 NM_001080463.1(DYNC2H1): c.10130delT (p.Leu3377Cysfs) deletion Pathogenic rs431905500 GRCh37 Chromosome 11, 103124080: 103124080
24 DYNC2H1 NM_001080463.1(DYNC2H1): c.10130delT (p.Leu3377Cysfs) deletion Pathogenic rs431905500 GRCh38 Chromosome 11, 103253351: 103253351
25 NEK1 NM_001199397.1(NEK1): c.1640_1641insA (p.Asn547Lysfs) insertion Pathogenic rs483352907 GRCh37 Chromosome 4, 170458985: 170458985
26 NEK1 NM_001199397.1(NEK1): c.1640_1641insA (p.Asn547Lysfs) insertion Pathogenic rs483352907 GRCh38 Chromosome 4, 169537834: 169537834
27 DYNC2H1 NM_001080463.1(DYNC2H1): c.7985G> A (p.Arg2662Gln) single nucleotide variant Pathogenic rs397514635 GRCh37 Chromosome 11, 103070102: 103070102
28 DYNC2H1 NM_001080463.1(DYNC2H1): c.7985G> A (p.Arg2662Gln) single nucleotide variant Pathogenic rs397514635 GRCh38 Chromosome 11, 103199373: 103199373
29 DYNC2H1 NM_001080463.1(DYNC2H1): c.7486C> T (p.Pro2496Ser) single nucleotide variant Pathogenic rs397514636 GRCh37 Chromosome 11, 103062294: 103062294
30 DYNC2H1 NM_001080463.1(DYNC2H1): c.7486C> T (p.Pro2496Ser) single nucleotide variant Pathogenic rs397514636 GRCh38 Chromosome 11, 103191565: 103191565
31 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh37 Chromosome 11, 102988581: 102988581
32 DYNC2H1 NM_001080463.1(DYNC2H1): c.988C> T (p.Arg330Cys) single nucleotide variant Pathogenic rs397514637 GRCh38 Chromosome 11, 103117852: 103117852
33 DYNC2H1 NM_001080463.1(DYNC2H1): c.8534delA (p.Asn2845Ilefs) deletion Pathogenic rs431905507 GRCh37 Chromosome 11, 103080684: 103080684
34 DYNC2H1 NM_001080463.1(DYNC2H1): c.8534delA (p.Asn2845Ilefs) deletion Pathogenic rs431905507 GRCh38 Chromosome 11, 103209955: 103209955
35 DYNC2H1 NM_001080463.1(DYNC2H1): c.8947-1G> T single nucleotide variant Pathogenic rs727503908 GRCh37 Chromosome 11, 103091351: 103091351
36 DYNC2H1 NM_001080463.1(DYNC2H1): c.8947-1G> T single nucleotide variant Pathogenic rs727503908 GRCh38 Chromosome 11, 103220622: 103220622
37 NEK1 NM_001199397.1(NEK1): c.1690_1691delAT (p.Met564Valfs) deletion Pathogenic/Likely pathogenic rs786205645 GRCh37 Chromosome 4, 170429978: 170429979
38 NEK1 NM_001199397.1(NEK1): c.1690_1691delAT (p.Met564Valfs) deletion Pathogenic/Likely pathogenic rs786205645 GRCh38 Chromosome 4, 169508827: 169508828
39 DYNC2H1 NM_001080463.1(DYNC2H1): c.3353delG (p.Ser1118Ilefs) deletion Pathogenic rs755338872 GRCh37 Chromosome 11, 103025230: 103025230
40 DYNC2H1 NM_001080463.1(DYNC2H1): c.3353delG (p.Ser1118Ilefs) deletion Pathogenic rs755338872 GRCh38 Chromosome 11, 103154501: 103154501
41 DYNC2H1 NM_001080463.1(DYNC2H1): c.5846delA (p.Glu1949Glyfs) deletion Pathogenic rs794727595 GRCh37 Chromosome 11, 103047135: 103047135
42 DYNC2H1 NM_001080463.1(DYNC2H1): c.5846delA (p.Glu1949Glyfs) deletion Pathogenic rs794727595 GRCh38 Chromosome 11, 103176406: 103176406
43 DYNC2H1 NM_001080463.1(DYNC2H1): c.11702C> G (p.Ser3901Ter) single nucleotide variant Pathogenic rs776315442 GRCh37 Chromosome 11, 103187305: 103187305
44 DYNC2H1 NM_001080463.1(DYNC2H1): c.11702C> G (p.Ser3901Ter) single nucleotide variant Pathogenic rs776315442 GRCh38 Chromosome 11, 103316576: 103316576
45 DYNC2H1 NM_001080463.1(DYNC2H1): c.12177+1G> A single nucleotide variant Pathogenic rs794727944 GRCh37 Chromosome 11, 103229088: 103229088
46 DYNC2H1 NM_001080463.1(DYNC2H1): c.12177+1G> A single nucleotide variant Pathogenic rs794727944 GRCh38 Chromosome 11, 103358360: 103358360
47 DYNC2H1 NM_001080463.1(DYNC2H1): c.1360+2delT deletion Pathogenic rs780539887 GRCh37 Chromosome 11, 102991767: 102991767
48 DYNC2H1 NM_001080463.1(DYNC2H1): c.1360+2delT deletion Pathogenic rs780539887 GRCh38 Chromosome 11, 103121038: 103121038
49 DYNC2H1 NM_001080463.1(DYNC2H1): c.2353C> T (p.Arg785Ter) single nucleotide variant Likely pathogenic rs755883373 GRCh37 Chromosome 11, 103006456: 103006456
50 DYNC2H1 NM_001080463.1(DYNC2H1): c.2353C> T (p.Arg785Ter) single nucleotide variant Likely pathogenic rs755883373 GRCh38 Chromosome 11, 103135727: 103135727

Expression for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 BBS10 DYNC2H1 DYNC2LI1 IFT122 IFT80 TCTEX1D2
2
Show member pathways
12.17 DYNC2H1 EVC IFT122 TTC21B WDR19 WDR35
3 10.94 DYNC2H1 DYNC2LI1 IFT122 IFT80 TCTEX1D2 TTC21B
4 10.9 DYNC2H1 DYNC2LI1

GO Terms for Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 3 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 9.93 BBS10 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80
2 microtubule organizing center GO:0005815 9.92 CEP120 DYNC2LI1 KIAA0586 NEK1 WDR35
3 ciliary basal body GO:0036064 9.88 DYNC2LI1 EVC IFT122 KIAA0586 WDR34 WDR35
4 axoneme GO:0005930 9.85 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR35
5 dynein complex GO:0030286 9.78 DYNC2H1 DYNC2LI1 WDR34 WDR60
6 centriole GO:0005814 9.73 CEP120 KIAA0586 WDR34
7 motile cilium GO:0031514 9.71 DYNC2H1 DYNC2LI1 WDR19
8 cilium GO:0005929 9.7 BBS10 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80
9 ciliary base GO:0097546 9.67 IFT122 TCTEX1D2 WDR60
10 intraciliary transport particle A GO:0030991 9.67 IFT122 TTC21B WDR19 WDR35
11 cytoplasmic dynein complex GO:0005868 9.65 DYNC2H1 DYNC2LI1 TCTEX1D2 WDR34 WDR60
12 photoreceptor connecting cilium GO:0032391 9.57 IFT122 WDR19
13 pericentriolar material GO:0000242 9.55 NEK1 WDR60
14 interphase microtubule organizing center GO:0031021 9.51 TCTEX1D2 WDR60
15 ciliary tip GO:0097542 9.28 DYNC2H1 DYNC2LI1 IFT122 IFT80 TTC21B WDR19
16 cytoplasm GO:0005737 10.35 CEP120 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80
17 cytoskeleton GO:0005856 10.1 CEP120 DYNC2H1 DYNC2LI1 EVC IFT122 IFT80
18 centrosome GO:0005813 10.03 CEP120 DYNC2LI1 IFT80 KIAA0586 NEK1 TCTEX1D2

Biological processes related to Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.91 DYNC2H1 DYNC2LI1 IFT122 KIAA0586 NEK1 TCTN3
2 cilium assembly GO:0060271 9.73 DYNC2H1 DYNC2LI1 IFT122 IFT80 KIAA0586 NEK1
3 smoothened signaling pathway GO:0007224 9.72 EVC KIAA0586 TCTN3 TTC21B WDR19
4 protein localization to cilium GO:0061512 9.67 DYNC2H1 IFT122 TTC21B WDR35
5 microtubule-based movement GO:0007018 9.65 DYNC2H1 WDR34 WDR60
6 intraciliary retrograde transport GO:0035721 9.63 DYNC2H1 DYNC2LI1 IFT122 TTC21B WDR19 WDR35
7 non-motile cilium assembly GO:1905515 9.61 BBS10 DYNC2H1 IFT122
8 dorsal/ventral pattern formation GO:0009953 9.52 DYNC2H1 IFT122
9 regulation of cilium assembly GO:1902017 9.51 DYNC2LI1 TCTEX1D2
10 positive regulation of smoothened signaling pathway GO:0045880 9.49 DYNC2H1 EVC
11 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.46 IFT122 WDR19
12 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.4 IFT122 WDR19
13 intraciliary transport involved in cilium assembly GO:0035735 9.28 DYNC2H1 DYNC2LI1 IFT122 IFT80 TTC21B WDR19

Molecular functions related to Short-Rib Thoracic Dysplasia 3 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 9.32 WDR34 WDR60
2 dynein intermediate chain binding GO:0045505 9.26 DYNC2H1 TCTEX1D2
3 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2H1 DYNC2LI1
4 dynein light chain binding GO:0045503 9.13 DYNC2H1 WDR34 WDR60
5 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 WDR34 WDR60

Sources for Short-Rib Thoracic Dysplasia 3 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
Content
Loading form....