SRTD8
MCID: SHR070
MIFTS: 40

Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly (SRTD8)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 57 12 72 29 6 15 70
Srtd8 57 12 72
Srps6 57 12 72
Short Rib-Polydactyly Syndrome Type Vi 12 72
Dysplasia, Thoracic, Short-Rib, Type 8 with or Without Polydactyly 39
Short Rib-Polydactyly Syndrome, Type Vi; Srps6 57
Short Rib-Polydactyly Syndrome, Type Vi 57
Srps Type Vi 72

Characteristics:

OMIM®:

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


HPO:

31
short-rib thoracic dysplasia 8 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110094
OMIM® 57 615503
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 32 Q77.2
UMLS 70 C3809691

Summaries for Short-Rib Thoracic Dysplasia 8 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). (615503) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly, also known as srtd8, is related to geographic tongue and orofaciodigital syndrome iv. An important gene associated with Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly is DYNC2I1 (Dynein 2 Intermediate Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Vasopressin-regulated water reabsorption. Affiliated tissues include eye, pancreas and bone, and related phenotypes are macrocephaly and failure to thrive

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 8 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 8 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 8 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 geographic tongue 9.9 DYNLT2B DYNC2H1
2 orofaciodigital syndrome iv 9.9 DYNC2I2 DYNC2I1
3 short-rib thoracic dysplasia 7 with or without polydactyly 9.8 DYNLT2B DYNC2I1
4 short-rib thoracic dysplasia 4 with or without polydactyly 9.7 DYNLT2B DYNC2I1
5 bardet-biedl syndrome 7 9.7 DYNLT2B DYNC2I2 DYNC2I1
6 primary ciliary dyskinesia 9.3 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 polydactyly 9.2 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 short-rib thoracic dysplasia 11 with or without polydactyly 9.2 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 short-rib thoracic dysplasia 12 9.2 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
10 weyers acrofacial dysostosis 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
11 cleft lip/palate 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
12 short-rib thoracic dysplasia 6 with or without polydactyly 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
13 cranioectodermal dysplasia 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
14 ellis-van creveld syndrome 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
15 short-rib thoracic dysplasia 3 with or without polydactyly 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
16 short-rib thoracic dysplasia 1 with or without polydactyly 9.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
17 asphyxiating thoracic dystrophy 8.7 ESYT2 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 failure to thrive 31 HP:0001508
3 depressed nasal bridge 31 HP:0005280
4 short stature 31 HP:0004322
5 brachydactyly 31 HP:0001156
6 polyhydramnios 31 HP:0001561
7 ventricular septal defect 31 HP:0001629
8 narrow chest 31 HP:0000774
9 ambiguous genitalia 31 HP:0000062
10 pancreatic fibrosis 31 HP:0100732
11 pulmonary hypoplasia 31 HP:0002089
12 femoral bowing 31 HP:0002980
13 short long bone 31 HP:0003026
14 short ribs 31 HP:0000773
15 lateral clavicle hook 31 HP:0000895
16 syndactyly 31 HP:0001159
17 preaxial polydactyly 31 HP:0100258
18 postaxial polydactyly 31 HP:0100259
19 acetabular spurs 31 HP:0010454
20 thoracic dysplasia 31 HP:0006644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Growth Other:
failure to thrive

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Genitourinary External Genitalia Male:
ambiguous genitalia

Respiratory Lung:
pulmonary hypoplasia

Skeletal Feet:
syndactyly

Chest External Features:
narrow thorax

Abdomen Liver:
enlarged liver with ductal plate malformation
prominent bile duct plates

Skeletal Skull:
macrocephaly

Head And Neck Nose:
depressed nasal bridge

Skeletal Hands:
brachydactyly
syndactyly
preaxial polydactyly
postaxial polydactyly

Cardiovascular Heart:
ventricular septal defect

Abdomen Pancreas:
pancreatic fibrosis

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles (in some patients)

Skeletal Pelvis:
acetabular spurs

Skeletal Limbs:
bowed femurs
short long bones on prenatal ultrasound
conical epiphyses
hypoplastic trabecular bone

Genitourinary Kidneys:
dilation of renal tubules, mild
focal cystic changes

Clinical features from OMIM®:

615503 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly 29 DYNC2I1

Anatomical Context for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

40
Eye, Pancreas, Bone, Liver

Publications for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

# Title Authors PMID Year
1
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 57 6
23910462 2013
2
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
3
Ciliary disorder of the skeleton. 57
22791528 2012

Variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DYNC2I1 NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter) SNV Pathogenic 88644 rs587777064 GRCh37: 7:158711530-158711530
GRCh38: 7:158918839-158918839
2 DYNC2I1 NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met) SNV Pathogenic 88645 rs587777065 GRCh37: 7:158716413-158716413
GRCh38: 7:158923722-158923722
3 DYNC2I1 NM_018051.5(DYNC2I1):c.1703-3T>A SNV Pathogenic 88646 rs587777066 GRCh37: 7:158706921-158706921
GRCh38: 7:158914230-158914230
4 DYNC2I1 NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter) SNV Pathogenic 577342 rs766663693 GRCh37: 7:158695250-158695250
GRCh38: 7:158902559-158902559
5 DYNC2I1 NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) SNV Pathogenic 572127 rs202111347 GRCh37: 7:158662599-158662599
GRCh38: 7:158869908-158869908
6 DYNC2I1 NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter) SNV Pathogenic 1030619 GRCh37: 7:158669371-158669371
GRCh38: 7:158876680-158876680
7 DYNC2I1 NM_018051.5(DYNC2I1):c.757del (p.Glu253fs) Deletion Pathogenic 1030620 GRCh37: 7:158672555-158672555
GRCh38: 7:158879864-158879864
8 DYNC2I1 NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter) SNV Pathogenic 1030621 GRCh37: 7:158677273-158677273
GRCh38: 7:158884582-158884582
9 DYNC2I1 NM_018051.5(DYNC2I1):c.2190_2191del (p.Arg731fs) Deletion Pathogenic 1032017 GRCh37: 7:158716357-158716358
GRCh38: 7:158923666-158923667
10 DYNC2I1 NM_018051.5(DYNC2I1):c.772_775del (p.Glu258fs) Deletion Likely pathogenic 917969 GRCh37: 7:158672570-158672573
GRCh38: 7:158879879-158879882
11 DYNC2I1 NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu) SNV Likely pathogenic 917970 GRCh37: 7:158677274-158677274
GRCh38: 7:158884583-158884583
12 DYNC2I1 NM_018051.5(DYNC2I1):c.1162del (p.Cys388fs) Deletion Likely pathogenic 437277 rs1554460624 GRCh37: 7:158695089-158695089
GRCh38: 7:158902398-158902398
13 DYNC2I1 NM_018051.5(DYNC2I1):c.3077C>T (p.Ala1026Val) SNV Uncertain significance 474629 rs370850399 GRCh37: 7:158738346-158738346
GRCh38: 7:158945655-158945655
14 DYNC2I1 NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys) SNV Uncertain significance 541522 rs545206396 GRCh37: 7:158664208-158664208
GRCh38: 7:158871517-158871517
15 DYNC2I1 NM_018051.5(DYNC2I1):c.3169G>A (p.Ala1057Thr) SNV Uncertain significance 474630 rs1162389472 GRCh37: 7:158738438-158738438
GRCh38: 7:158945747-158945747
16 DYNC2I1 NC_000007.14:g.(?_158926167)_(158927063_?)del Deletion Uncertain significance 584053 GRCh37: 7:158718858-158719754
GRCh38: 7:158926167-158927063
17 DYNC2I1 NM_018051.5(DYNC2I1):c.2485+5C>A SNV Uncertain significance 662025 rs771294563 GRCh37: 7:158719739-158719739
GRCh38: 7:158927048-158927048
18 DYNC2I1 NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg) SNV Uncertain significance 664414 rs528452983 GRCh37: 7:158663879-158663879
GRCh38: 7:158871188-158871188
19 DYNC2I1 NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly) SNV Uncertain significance 957105 GRCh37: 7:158672468-158672468
GRCh38: 7:158879777-158879777
20 DYNC2I1 NM_018051.5(DYNC2I1):c.2512C>G (p.Leu838Val) SNV Uncertain significance 963057 GRCh37: 7:158723172-158723172
GRCh38: 7:158930481-158930481
21 DYNC2I1 NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly) SNV Uncertain significance 971782 GRCh37: 7:158663939-158663939
GRCh38: 7:158871248-158871248
22 DYNC2I1 NM_018051.5(DYNC2I1):c.990+3A>T SNV Uncertain significance 968954 GRCh37: 7:158679769-158679769
GRCh38: 7:158887078-158887078
23 DYNC2I1 NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp) SNV Uncertain significance 999255 GRCh37: 7:158664214-158664214
GRCh38: 7:158871523-158871523
24 DYNC2I1 NM_018051.5(DYNC2I1):c.573+6C>T SNV Uncertain significance 1000698 GRCh37: 7:158669388-158669388
GRCh38: 7:158876697-158876697
25 DYNC2I1 NM_018051.5(DYNC2I1):c.1826C>T (p.Ala609Val) SNV Uncertain significance 1002313 GRCh37: 7:158711465-158711465
GRCh38: 7:158918774-158918774
26 DYNC2I1 NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg) SNV Uncertain significance 1007556 GRCh37: 7:158672532-158672532
GRCh38: 7:158879841-158879841
27 DYNC2I1 NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys) SNV Uncertain significance 1015573 GRCh37: 7:158664199-158664199
GRCh38: 7:158871508-158871508
28 DYNC2I1 NM_018051.5(DYNC2I1):c.1505C>T (p.Ser502Leu) SNV Uncertain significance 1022417 GRCh37: 7:158704285-158704285
GRCh38: 7:158911594-158911594
29 DYNC2I1 NM_018051.5(DYNC2I1):c.574-10T>A SNV Uncertain significance 848056 GRCh37: 7:158672365-158672365
GRCh38: 7:158879674-158879674
30 DYNC2I1 NM_018051.5(DYNC2I1):c.2926A>G (p.Thr976Ala) SNV Uncertain significance 951185 GRCh37: 7:158734763-158734763
GRCh38: 7:158942072-158942072
31 DYNC2I1 NM_018051.5(DYNC2I1):c.1573A>G (p.Lys525Glu) SNV Uncertain significance 958136 GRCh37: 7:158704353-158704353
GRCh38: 7:158911662-158911662
32 DYNC2I1 NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln) SNV Uncertain significance 1039216 GRCh37: 7:158664152-158664152
GRCh38: 7:158871461-158871461
33 DYNC2I1 NM_018051.5(DYNC2I1):c.2172G>C (p.Trp724Cys) SNV Uncertain significance 1039256 GRCh37: 7:158716339-158716339
GRCh38: 7:158923648-158923648
34 DYNC2I1 NM_018051.5(DYNC2I1):c.1637C>T (p.Thr546Met) SNV Uncertain significance 1042402 GRCh37: 7:158705722-158705722
GRCh38: 7:158913031-158913031
35 DYNC2I1 NM_018051.5(DYNC2I1):c.1778G>A (p.Arg593Gln) SNV Likely benign 766803 rs58538724 GRCh37: 7:158706999-158706999
GRCh38: 7:158914308-158914308
36 DYNC2I1 NM_018051.5(DYNC2I1):c.1194A>G (p.Glu398=) SNV Likely benign 789377 rs753716236 GRCh37: 7:158695123-158695123
GRCh38: 7:158902432-158902432
37 DYNC2I1 NM_018051.5(DYNC2I1):c.2154C>T (p.His718=) SNV Likely benign 789388 rs368500706 GRCh37: 7:158716321-158716321
GRCh38: 7:158923630-158923630
38 DYNC2I1 NM_018051.5(DYNC2I1):c.1040C>T (p.Pro347Leu) SNV Likely benign 707029 rs73529717 GRCh37: 7:158684005-158684005
GRCh38: 7:158891314-158891314
39 DYNC2I1 NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) SNV Likely benign 707055 rs150548113 GRCh37: 7:158672515-158672515
GRCh38: 7:158879824-158879824
40 DYNC2I1 NM_018051.5(DYNC2I1):c.2210C>T (p.Thr737Met) SNV Likely benign 707247 rs138296655 GRCh37: 7:158716377-158716377
GRCh38: 7:158923686-158923686
41 DYNC2I1 NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe) SNV Likely benign 707551 rs201226440 GRCh37: 7:158663897-158663897
GRCh38: 7:158871206-158871206
42 DYNC2I1 NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=) SNV Likely benign 724968 rs573392724 GRCh37: 7:158663976-158663976
GRCh38: 7:158871285-158871285
43 DYNC2I1 NM_018051.5(DYNC2I1):c.1017G>A (p.Val339=) SNV Likely benign 732837 rs1006424601 GRCh37: 7:158683982-158683982
GRCh38: 7:158891291-158891291
44 DYNC2I1 NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=) SNV Likely benign 766813 rs557538074 GRCh37: 7:158664120-158664120
GRCh38: 7:158871429-158871429
45 DYNC2I1 NM_018051.5(DYNC2I1):c.902G>T (p.Gly301Val) SNV Likely benign 766854 rs140596100 GRCh37: 7:158677277-158677277
GRCh38: 7:158884586-158884586
46 DYNC2I1 NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn) SNV Likely benign 767343 rs149660873 GRCh37: 7:158711522-158711522
GRCh38: 7:158918831-158918831
47 DYNC2I1 NM_018051.5(DYNC2I1):c.2351C>T (p.Ser784Leu) SNV Likely benign 773997 rs151184533 GRCh37: 7:158718971-158718971
GRCh38: 7:158926280-158926280
48 DYNC2I1 NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg) SNV Likely benign 541523 rs138438967 GRCh37: 7:158672586-158672586
GRCh38: 7:158879895-158879895
49 DYNC2I1 NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=) SNV Likely benign 541525 rs748373806 GRCh37: 7:158663868-158663868
GRCh38: 7:158871177-158871177
50 DYNC2I1 NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln) SNV Likely benign 541526 rs73167274 GRCh37: 7:158727230-158727230
GRCh38: 7:158934539-158934539

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 DYNC2I1 p.Thr749Met VAR_070197 rs587777065

Expression for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 10.8 DYNC2LI1 DYNC2H1
3 10.63 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

GO Terms for Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.81 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 cell projection GO:0042995 9.78 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
3 centrosome GO:0005813 9.71 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
4 microtubule organizing center GO:0005815 9.67 DYNC2LI1 DYNC2I2 DYNC2I1
5 ciliary basal body GO:0036064 9.56 DYNC2LI1 DYNC2I2
6 axoneme GO:0005930 9.56 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
7 motile cilium GO:0031514 9.55 DYNC2LI1 DYNC2H1
8 cilium GO:0005929 9.55 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 spindle pole GO:0000922 9.54 DYNLT2B DYNC2I1
10 apical part of cell GO:0045177 9.52 DYNC2LI1 DYNC2H1
11 dynein complex GO:0030286 9.46 DYNC2LI1 DYNC2H1
12 ciliary base GO:0097546 9.43 DYNLT2B DYNC2I1
13 ciliary plasm GO:0097014 9.37 DYNC2I2 DYNC2I1
14 interphase microtubule organizing center GO:0031021 9.32 DYNLT2B DYNC2I1
15 ciliary tip GO:0097542 9.26 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
16 cytoplasmic dynein complex GO:0005868 9.02 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Biological processes related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.55 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
2 cell projection organization GO:0030030 9.5 DYNC2LI1 DYNC2I1 DYNC2H1
3 determination of left/right symmetry GO:0007368 9.43 DYNC2LI1 DYNC2H1
4 microtubule-based movement GO:0007018 9.43 DYNC2I2 DYNC2I1 DYNC2H1
5 regulation of cilium assembly GO:1902017 9.4 DYNLT2B DYNC2LI1
6 intraciliary transport GO:0042073 9.37 DYNC2I2 DYNC2I1
7 intraciliary transport involved in cilium assembly GO:0035735 9.26 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 intraciliary retrograde transport GO:0035721 9.02 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1

Molecular functions related to Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.26 DYNC2LI1 DYNC2H1
2 dynein intermediate chain binding GO:0045505 9.16 DYNLT2B DYNC2H1
3 dynein light chain binding GO:0045503 8.96 DYNC2I2 DYNC2I1
4 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 8 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
Content
Loading form....