SRTD12
MCID: SHR098
MIFTS: 50

Short-Rib Thoracic Dysplasia 12 (SRTD12)

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Short-Rib Thoracic Dysplasia 12

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 12:

Name: Short-Rib Thoracic Dysplasia 12 57
Beemer-Langer Syndrome 57 11 75 14
Short Rib-Polydactyly Syndrome, Beemer Type 43 71
Type Iv Short Rib Polydactyly Syndrome 11 5
Short Rib-Polydactyly Syndrome Type 4 19 58
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 58
Short Rib Polydactyly Syndrome Beemer-Langer Type 19
Short Rib-Polydactyly Syndrome Beemer Type 19
Short Rib-Polydactyly Syndrome, Type Iv 57
Short Rib-Polydactyly Syndrome Type Iv 19
Short Rib Syndrome, Beemer Type 57
Beemer Langer Syndrome 19
Srps Type 4 19
Srps Iv 57
Srtd12 57
Srps4 57

Characteristics:


Inheritance:

Short-Rib Thoracic Dysplasia 12: Autosomal recessive 57
Short Rib-Polydactyly Syndrome, Beemer-Langer Type: Autosomal recessive 58

Age Of Onset:

Short Rib-Polydactyly Syndrome, Beemer-Langer Type: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
neonatal lethal due to respiratory insufficiency


Classifications:

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


Summaries for Short-Rib Thoracic Dysplasia 12

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). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene (611177); see SRTD2, 611263. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (269860) (Updated 08-Dec-2022)

MalaCards based summary: Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to short rib-polydactyly syndrome and cranioectodermal dysplasia 1, and has symptoms including edema An important gene associated with Short-Rib Thoracic Dysplasia 12 is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Signal Transduction and Signaling by Hedgehog. Affiliated tissues include bone, pancreas and brain, and related phenotypes are macrocephaly and hydrocephalus

GARD: 19 A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.

Orphanet: 58 A rare ciliopathy with major skeletal involvement characterized by short ribs and hypoplastic thorax, small iliac bones, short tubular bones with smooth metaphyseal margins, and bowed radii and ulnae. The tibiae are relatively well tubulated and longer than the fibulae. There is a high frequency of brain defects, while post-axial polydactyly is rare. Additional features may include cleft lip, absence of internal genitalia, and renal, biliary, and pancreatic cysts, among others.

Disease Ontology: 11 A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

Wikipedia: 75 Short rib-polydactyly syndrome is a family of four closely related... more...

Related Diseases for Short-Rib Thoracic Dysplasia 12

Diseases related to Short-Rib Thoracic Dysplasia 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 short rib-polydactyly syndrome 31.1 WDR35 IFT43 DYNC2H1
2 cranioectodermal dysplasia 1 30.7 WDR35 WDR19 IFT122
3 cystic kidney disease 30.6 WDR19 TTC21B NEK1 IFT80
4 brachydactyly 30.5 WDR35 WDR19 IFT43 IFT122
5 osteochondrodysplasia 30.1 WDR35 WDR19 TTC21B NEK1 IFT80 EVC2
6 polydactyly 29.8 WDR35 WDR19 TTC21B NEK1 INTU IFT80
7 short-rib thoracic dysplasia 6 with or without polydactyly 29.1 WDR35 WDR19 TTC30B TTC21B TRIM59-IFT80 NEK1
8 cranioectodermal dysplasia 28.8 WDR35 WDR19 TTC30B TTC21B NEK1 INTU
9 short-rib thoracic dysplasia 3 with or without polydactyly 28.7 WDR35 WDR19 TTC30B TTC21B TBCC NEK1
10 polycystic kidney disease 1 with or without polycystic liver disease 10.4
11 renal dysplasia 10.4
12 mohr syndrome 10.3 NEK1 INTU
13 achondrogenesis, type ia 10.3 NEK1 DYNC2H1
14 anodontia 10.3 EVC2 EVC
15 mckusick-kaufman syndrome 10.3 IFT80 EVC2 EVC
16 spondylometaphyseal dysplasia, axial 10.3 NEK1 DYNC2I1
17 bone development disease 10.3 IFT80 EVC2 DYNC2H1
18 oculoauricular syndrome 10.3 EVC2 EVC
19 nephronophthisis 12 10.3 WDR19 TTC21B
20 orofaciodigital syndrome iv 10.3 DYNC2I2 DYNC2I1
21 hydrolethalus syndrome 1 10.2 WDR35 WDR19 TTC21B IFT80
22 cleft lip/palate 10.2 WDR35 INTU DYNC2H1
23 cystic lymphangioma 10.2
24 short-rib thoracic dysplasia 2 with or without polydactyly 10.2 TRIM59-IFT80 IFT80
25 ceroid lipofuscinosis, neuronal, 1 10.2 TTC30B IFT46 IFT22
26 situs inversus 10.2 WDR19 TTC21B IFT80 DYNC2H1
27 joubert syndrome 17 10.2 WDR35 TTC21B IFT43 IFT122
28 tooth agenesis 10.2 WDR35 IFT122 EVC2 EVC
29 bardet-biedl syndrome 7 10.2 DYNLT2B DYNC2I2
30 senior-loken syndrome 1 10.2 WDR19 TTC30B TTC21B IFT80 IFT122
31 cleft palate, isolated 10.2
32 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
33 hypertelorism 10.2
34 polydactyly, preaxial i 10.2
35 teeth present at birth 10.2
36 arachnoid cysts, intracranial 10.2
37 dandy-walker syndrome 10.2
38 hydrops fetalis, nonimmune 10.2
39 short-rib thoracic dysplasia 17 with or without polydactyly 10.2
40 orofaciodigital syndrome 10.2
41 cleft lip 10.2
42 accessory pancreas 10.2
43 cleft tongue 10.2
44 talipes equinovarus 10.2
45 cleft lip with or without cleft palate 10.2
46 ciliopathy 10.2
47 polycystic kidney disease 4 with or without polycystic liver disease 10.1 WDR19 TTC21B IFT80 IFT46 DYNC2H1
48 macular degeneration, x-linked atrophic 10.1 IFT22 DYNLT2B DYNC2I2 DYNC2I1
49 short-rib thoracic dysplasia 5 with or without polydactyly 10.1 WDR35 WDR19 TTC21B IFT43 IFT122
50 craniosynostosis 10.1 WDR35 WDR19 IFT43 IFT122

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 12:



Diseases related to Short-Rib Thoracic Dysplasia 12

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 12

Human phenotypes related to Short-Rib Thoracic Dysplasia 12:

30 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 HP:0000256
2 hydrocephalus 30 HP:0000238
3 short neck 30 HP:0000470
4 respiratory insufficiency 30 HP:0002093
5 splenomegaly 30 HP:0001744
6 hepatomegaly 30 HP:0002240
7 inguinal hernia 30 HP:0000023
8 hypertelorism 30 HP:0000316
9 short thorax 30 HP:0010306
10 ascites 30 HP:0001541
11 flat face 30 HP:0012368
12 intrauterine growth retardation 30 HP:0001511
13 wide intermamillary distance 30 HP:0006610
14 low-set ears 30 HP:0000369
15 epicanthus 30 HP:0000286
16 short toe 30 HP:0001831
17 brachydactyly 30 HP:0001156
18 polyhydramnios 30 HP:0001561
19 patent ductus arteriosus 30 HP:0001643
20 holoprosencephaly 30 HP:0001360
21 atelectasis 30 HP:0100750
22 renal hypoplasia 30 HP:0000089
23 ventricular septal defect 30 HP:0001629
24 intestinal malrotation 30 HP:0002566
25 high forehead 30 HP:0000348
26 narrow chest 30 HP:0000774
27 short finger 30 HP:0009381
28 ambiguous genitalia 30 HP:0000062
29 omphalocele 30 HP:0001539
30 short foot 30 HP:0001773
31 hypoplastic nipples 30 HP:0002557
32 median cleft lip and palate 30 HP:0008501
33 anencephaly 30 HP:0002323
34 broad foot 30 HP:0001769
35 broad palm 30 HP:0001169
36 short palm 30 HP:0004279
37 hypoplastic scapulae 30 HP:0000882
38 pulmonary hypoplasia 30 HP:0002089
39 posteriorly rotated ears 30 HP:0000358
40 protuberant abdomen 30 HP:0001538
41 limb undergrowth 30 HP:0009826
42 edema 30 HP:0000969
43 short long bone 30 HP:0003026
44 hamartoma of tongue 30 HP:0011802
45 short ribs 30 HP:0000773
46 natal tooth 30 HP:0000695
47 lobulated tongue 30 HP:0000180
48 horizontal ribs 30 HP:0000888
49 bowing of the legs 30 HP:0002979
50 cystic renal dysplasia 30 HP:0000800

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck
nuchal edema

Abdomen External Features:
inguinal hernia
omphalocele
protuberant abdomen

Chest External Features:
short thorax
narrow thorax

Abdomen:
ascites

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
holoprosencephaly
anencephaly
hydrocephaly
hypothalamic hamartomas

Genitourinary External Genitalia Male:
ambiguous genitalia
small phallus
fused labioscrotal folds

Respiratory Lung:
pulmonary hypoplasia
interstitial fibrosis
atelectatic lungs

Skeletal Hands:
short hands
broad hands
marked brachydactyly

Genitourinary Kidneys:
hypoplastic kidneys
cystic kidneys

Head And Neck Teeth:
natal teeth

Prenatal Manifestations:
hydrops

Abdomen Gastrointestinal:
malrotation

Chest Diaphragm:
high diaphragm

Abdomen Spleen:
enlarged and edematous spleen

Respiratory:
respiratory insufficiency

Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
oral frenula
hamartomata of tongue

Head And Neck Face:
flat face

Head And Neck Ears:
low-set ears
posteriorly rotated ears
malformed ears
small cavum conchae
narrow ear canals

Cardiovascular Vascular:
patent ductus arteriosus
transposition of the great vessels

Cardiovascular Heart:
ventricular septal defect
patent foramen ovale

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
horizontal ribs
small scapulae
irregular, widened anterior ends of ribs
high clavicles

Skeletal Feet:
short feet
broad feet
marked brachydactyly

Skeletal Limbs:
short limbs
short long bones
limbs fixed in external rotation
bowed femora, mild
bowing of radius, marked
more
Skeletal Spine:
thoracic lordosis
delayed vertebral body ossification, mild

Head And Neck Head:
large head
high, bulging forehead

Head And Neck Nose:
flat broad nasal base

Abdomen Liver:
enlarged and edematous liver

Genitourinary Internal Genitalia Male:
intraabdominal testes

Clinical features from OMIM®:

269860 (Updated 08-Dec-2022)

UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:


edema

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 12:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2
2 limbs/digits/tail MP:0005371 10.21 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 IFT122
3 nervous system MP:0003631 10.2 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT122 IFT43
4 embryo MP:0005380 10.11 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT43
5 cellular MP:0005384 10.03 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 IFT122
6 craniofacial MP:0005382 9.97 DYNC2H1 EVC EVC2 IFT122 IFT43 IFT80
7 cardiovascular system MP:0005385 9.9 DYNC2H1 DYNC2I1 DYNC2LI1 EVC2 IFT122 IFT43
8 skeleton MP:0005390 9.61 DYNC2H1 EVC EVC2 IFT80 INTU NEK1
9 mortality/aging MP:0010768 9.55 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 12

Search Clinical Trials, NIH Clinical Center for Short-Rib Thoracic Dysplasia 12

Cochrane evidence based reviews: short rib-polydactyly syndrome, beemer type

Genetic Tests for Short-Rib Thoracic Dysplasia 12

Anatomical Context for Short-Rib Thoracic Dysplasia 12

Organs/tissues related to Short-Rib Thoracic Dysplasia 12:

MalaCards : Bone, Pancreas, Brain, Liver, Eye, Heart, Tongue

Publications for Short-Rib Thoracic Dysplasia 12

Articles related to Short-Rib Thoracic Dysplasia 12:

(show all 25)
# Title Authors PMID Year
1
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. 62 57
17058284 2006
2
Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. 62 57
8946117 1996
3
Beemer-Langer type short rib-polydactyly syndrome: report of two cases. 62 57
8085456 1994
4
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. 62 57
8209908 1994
5
New findings in short rib syndrome. 62 57
8488867 1993
6
Short rib syndrome--Beemer type in sibs. 62 57
1897578 1991
7
Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. 62 57
1867272 1991
8
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. 62 57
1867273 1991
9
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 5
29068549 2018
10
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
11
Ciliary disorder of the skeleton. 57
22791528 2012
12
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 57
22499340 2012
13
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. 57
1360767 1992
14
Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. 57
2070548 1991
15
A lethal short rib syndrome without polydactyly. 57
3385743 1988
16
Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. 57
6682288 1983
17
A new short rib syndrome: report of two cases. 57
6829599 1983
18
Mutations in IFT80 cause SRPS Type IV. Report of two families and review. 62
30767363 2019
19
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. 62
28370949 2017
20
Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. 62
22105337 2012
21
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. 62
19475553 2009
22
New case of Beemer-Langer syndrome. 62
10742417 2000
23
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. 62
9610623 1998
24
De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes. 62
7856642 1994
25
Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. 62
8488883 1993

Variations for Short-Rib Thoracic Dysplasia 12

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 12:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC21B NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) SNV Pathogenic/Likely Pathogenic
446651 rs759086770 GRCh37: 2:166740383-166740383
GRCh38: 2:165883873-165883873
2 NEK1 NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) SNV Pathogenic/Likely Pathogenic
446674 rs1301705612 GRCh37: 4:170510644-170510644
GRCh38: 4:169589493-169589493
3 WDR19 NM_025132.4(WDR19):c.475G>A (p.Asp159Asn) SNV Pathogenic/Likely Pathogenic
446637 rs1451698951 GRCh37: 4:39201166-39201166
GRCh38: 4:39199546-39199546
4 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.487_490del (p.Leu163fs) DEL Pathogenic/Likely Pathogenic
446652 rs1553764834 GRCh37: 3:160083890-160083893
GRCh38: 3:160366102-160366105
5 TTC21B NM_024753.5(TTC21B):c.1320del (p.Phe440fs) DEL Pathogenic/Likely Pathogenic
446650 rs775836730 GRCh37: 2:166785711-166785711
GRCh38: 2:165929201-165929201
6 WDR19 NM_025132.4(WDR19):c.3484-2A>C SNV Pathogenic/Likely Pathogenic
446636 rs1553918403 GRCh37: 4:39274598-39274598
GRCh38: 4:39272978-39272978
7 EVC2 NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) SNV Pathogenic/Likely Pathogenic
446664 rs769864196 GRCh37: 4:5633522-5633522
GRCh38: 4:5631795-5631795
8 TRIM59-IFT80, IFT80 NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) SNV Pathogenic/Likely Pathogenic
406217 rs140202230 GRCh37: 3:160021761-160021761
GRCh38: 3:160303973-160303973
9 DYNC2H1 NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) SNV Pathogenic/Likely Pathogenic
216490 rs200190291 GRCh37: 11:103048457-103048457
GRCh38: 11:103177728-103177728
10 EVC2 NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) SNV Likely Pathogenic
446685 rs376133710 GRCh37: 4:5578118-5578118
GRCh38: 4:5576391-5576391
11 EVC2 NM_147127.5(EVC2):c.1823G>A (p.Arg608His) SNV Conflicting Interpretations Of Pathogenicity
281122 rs145693546 GRCh37: 4:5630349-5630349
GRCh38: 4:5628622-5628622

Expression for Short-Rib Thoracic Dysplasia 12

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 12.

Pathways for Short-Rib Thoracic Dysplasia 12

GO Terms for Short-Rib Thoracic Dysplasia 12

Cellular components related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.75 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC
2 centrosome GO:0005813 10.41 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B IFT22 IFT46
3 ciliary basal body GO:0036064 10.27 DYNC2I2 DYNC2LI1 EVC IFT122 IFT46 IFT80
4 cytoskeleton GO:0005856 10.26 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC EVC2
5 motile cilium GO:0031514 10.19 DYNC2H1 DYNC2LI1 IFT46 INTU WDR19
6 axoneme GO:0005930 10.18 WDR35 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
7 cilium GO:0005929 10.17 WDR35 WDR19 TTC30B TTC21B INTU IFT80
8 cytoplasmic dynein complex GO:0005868 10.1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 cell projection GO:0042995 10.06 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1 EVC EVC2
10 intraciliary transport particle B GO:0030992 10.03 TTC30B IFT80 IFT46 IFT22
11 intraciliary transport particle A GO:0030991 10.02 WDR35 WDR19 TTC21B IFT43 IFT122
12 photoreceptor connecting cilium GO:0032391 10.01 WDR19 TBCC IFT122
13 microtubule organizing center GO:0005815 9.95 WDR35 NEK1 DYNC2LI1 DYNC2I2 DYNC2I1
14 plasma membrane protein complex GO:0098797 9.87 EVC2 EVC
15 interphase microtubule organizing center GO:0031021 9.83 DYNLT2B DYNC2I1
16 ciliary plasm GO:0097014 9.81 DYNC2I2 DYNC2I1
17 ciliary tip GO:0097542 9.74 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT22

Biological processes related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.15 TTC21B NEK1 INTU IFT80 IFT46 IFT43
2 intraciliary transport GO:0042073 10.1 DYNC2I1 DYNC2I2 IFT122 IFT46 INTU TTC30B
3 microtubule-based movement GO:0007018 10.08 DYNLT2B DYNC2I2 DYNC2I1 DYNC2H1
4 smoothened signaling pathway GO:0007224 10.06 WDR19 TTC21B INTU IFT80 EVC2 EVC
5 non-motile cilium assembly GO:1905515 10.03 DYNC2H1 IFT122 IFT80 INTU
6 protein localization to cilium GO:0061512 10.01 WDR35 TTC21B IFT122 DYNC2H1
7 limb development GO:0060173 10 INTU IFT80 IFT122
8 regulation of cilium assembly GO:1902017 9.99 INTU DYNLT2B DYNC2LI1
9 positive regulation of smoothened signaling pathway GO:0045880 9.97 INTU EVC DYNC2H1
10 intraciliary anterograde transport GO:0035720 9.97 TTC30B IFT80 IFT46 IFT22
11 cell projection organization GO:0030030 9.85 WDR35 WDR19 TTC30B NEK1 INTU IFT43
12 regulation of intraciliary retrograde transport GO:1905799 9.76 TTC21B DYNLT2B
13 intraciliary retrograde transport GO:0035721 9.62 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B IFT122

Molecular functions related to Short-Rib Thoracic Dysplasia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.26 DYNC2I2 DYNC2I1
2 dynein heavy chain binding GO:0045504 9.1 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Short-Rib Thoracic Dysplasia 12

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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