SRTD12
MCID: SHR098
MIFTS: 48

Short-Rib Thoracic Dysplasia 12 (SRTD12)

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

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 12 74 15
Short Rib-Polydactyly Syndrome, Beemer Type 44 71
Type Iv Short Rib Polydactyly Syndrome 12 6
Short Rib-Polydactyly Syndrome Type 4 20 58
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 58
Short Rib Polydactyly Syndrome Beemer-Langer Type 20
Short Rib-Polydactyly Syndrome, Type Iv; Srps4 57
Short Rib-Polydactyly Syndrome Beemer Type 20
Short Rib-Polydactyly Syndrome, Type Iv 57
Short Rib-Polydactyly Syndrome Type Iv 20
Dysplasia, Short-Rib Thoracic, Type 12 39
Short Rib Syndrome, Beemer Type 57
Beemer Langer Syndrome 20
Srps Type 4 20
Srps Iv 57
Srtd12 57
Srps4 57

Characteristics:

Orphanet epidemiological data:

58
short rib-polydactyly syndrome, beemer-langer type
Inheritance: Autosomal recessive;

OMIM®:

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

Miscellaneous:
neonatal lethal due to respiratory insufficiency


HPO:

31
short-rib thoracic dysplasia 12:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


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 05-Mar-2021)

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 EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include eye, pancreas and tongue, and related phenotypes are macrocephaly and hydrocephalus

Disease Ontology : 12 A syndrome that results in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93268DefinitionShort rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.Visit the Orphanet disease page for more resources.

Wikipedia : 74 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 58)
# Related Disease Score Top Affiliating Genes
1 short rib-polydactyly syndrome 31.0 WDR35 INTU DYNC2H1
2 cranioectodermal dysplasia 1 30.6 WDR35 WDR19 IFT122
3 odontochondrodysplasia 30.2 WDR35 WDR19 IFT80 EVC2 EVC DYNC2H1
4 polydactyly 29.4 WDR35 WDR19 TTC21B NEK1 INTU IFT80
5 cranioectodermal dysplasia 28.1 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 NEK1
6 short-rib thoracic dysplasia 6 with or without polydactyly 28.0 WDR35 WDR19 TTC30B TTC21B TRIM59-IFT80 TRAF3IP1
7 short-rib thoracic dysplasia 10 with or without polydactyly 10.5
8 renal dysplasia 10.4
9 acrofacial dysostosis 10.3 IFT80 EVC2 EVC
10 mohr syndrome 10.3 NEK1 INTU
11 geographic tongue 10.3 DYNLT2B DYNC2H1
12 atrophic glossitis 10.3 DYNLT2B DYNC2H1
13 anodontia 10.3 EVC2 EVC
14 short-rib thoracic dysplasia 5 with or without polydactyly 10.2 WDR35 WDR19 IFT122
15 bone development disease 10.2 IFT80 EVC2 DYNC2H1
16 nephronophthisis 13 10.2 WDR19 TTC21B
17 cystic lymphangioma 10.2
18 oculoauricular syndrome 10.2 EVC2 EVC
19 orofaciodigital syndrome iv 10.2 DYNC2I2 DYNC2I1
20 short-rib thoracic dysplasia 9 with or without polydactyly 10.2 WDR35 WDR19 TTC21B IFT122
21 polycystic kidney disease 4 with or without polycystic liver disease 10.2 WDR19 TTC21B IFT80
22 cleft palate, isolated 10.1
23 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
24 hypertelorism 10.1
25 teeth present at birth 10.1
26 hydrops fetalis, nonimmune 10.1
27 brachydactyly 10.1
28 clubfoot 10.1
29 orofaciodigital syndrome 10.1
30 cleft lip 10.1
31 cleft tongue 10.1
32 skeletal dysplasias 10.1
33 cleft lip with or without cleft palate 10.1
34 ciliopathy 10.1
35 bardet-biedl syndrome 7 10.1 DYNLT2B DYNC2I2 DYNC2I1
36 short-rib thoracic dysplasia 2 with or without polydactyly 10.1 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
37 joubert syndrome 17 10.1 WDR35 INTU
38 nephronophthisis 12 10.0 WDR19 TTC21B
39 short-rib thoracic dysplasia 4 with or without polydactyly 10.0 WDR35 WDR19 TTC21B DYNLT2B DYNC2I1
40 visceral heterotaxy 10.0 TTC21B IFT80 IFT46 IFT122 DYNC2H1
41 short-rib thoracic dysplasia 8 with or without polydactyly 9.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
42 short-rib thoracic dysplasia 11 with or without polydactyly 9.9 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
43 senior-loken syndrome 1 9.9 WDR19 TTC30B TTC21B TRAF3IP1 IFT80 IFT122
44 kartagener syndrome 9.8 TTC30B TRAF3IP1 IFT80 IFT46 IFT22
45 short-rib thoracic dysplasia 7 with or without polydactyly 9.8 WDR35 WDR19 TTC21B INTU IFT122 DYNLT2B
46 cleft lip/palate 9.7 WDR35 INTU DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1
47 retinitis pigmentosa 9.5 WDR35 WDR19 TTC21B TRAF3IP1 IFT80 IFT22
48 nephronophthisis 9.4 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 INTU
49 fundus dystrophy 9.3 WDR35 WDR19 TTC30B TTC21B NEK1 IFT80
50 joubert syndrome 1 9.1 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 IFT80

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:

31 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hydrocephalus 31 HP:0000238
3 short neck 31 HP:0000470
4 respiratory insufficiency 31 HP:0002093
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 inguinal hernia 31 HP:0000023
8 hypertelorism 31 HP:0000316
9 short thorax 31 HP:0010306
10 ascites 31 HP:0001541
11 flat face 31 HP:0012368
12 intrauterine growth retardation 31 HP:0001511
13 wide intermamillary distance 31 HP:0006610
14 low-set ears 31 HP:0000369
15 epicanthus 31 HP:0000286
16 short toe 31 HP:0001831
17 brachydactyly 31 HP:0001156
18 polyhydramnios 31 HP:0001561
19 patent ductus arteriosus 31 HP:0001643
20 holoprosencephaly 31 HP:0001360
21 atelectasis 31 HP:0100750
22 renal hypoplasia 31 HP:0000089
23 ventricular septal defect 31 HP:0001629
24 intestinal malrotation 31 HP:0002566
25 high forehead 31 HP:0000348
26 narrow chest 31 HP:0000774
27 short finger 31 HP:0009381
28 ambiguous genitalia 31 HP:0000062
29 omphalocele 31 HP:0001539
30 short foot 31 HP:0001773
31 hypoplastic nipples 31 HP:0002557
32 median cleft lip and palate 31 HP:0008501
33 anencephaly 31 HP:0002323
34 broad foot 31 HP:0001769
35 broad palm 31 HP:0001169
36 short palm 31 HP:0004279
37 hypoplastic scapulae 31 HP:0000882
38 pulmonary hypoplasia 31 HP:0002089
39 posteriorly rotated ears 31 HP:0000358
40 protuberant abdomen 31 HP:0001538
41 limb undergrowth 31 HP:0009826
42 edema 31 HP:0000969
43 short long bone 31 HP:0003026
44 abnormality of the pinna 31 HP:0000377
45 hamartoma of tongue 31 HP:0011802
46 short ribs 31 HP:0000773
47 natal tooth 31 HP:0000695
48 lobulated tongue 31 HP:0000180
49 horizontal ribs 31 HP:0000888
50 bowing of the legs 31 HP:0002979

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

UMLS symptoms related to Short-Rib Thoracic Dysplasia 12:


edema

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 DYNC2H1 DYNC2LI1 EVC EVC2 IFT122 IFT46
2 growth/size/body region MP:0005378 10.07 DYNC2H1 DYNC2I1 DYNC2LI1 EVC EVC2 HSPB11
3 embryo MP:0005380 10.06 DYNC2H1 DYNC2I1 DYNC2LI1 HSPB11 IFT122 IFT46
4 craniofacial MP:0005382 10.02 DYNC2H1 EVC EVC2 HSPB11 IFT122 IFT80
5 limbs/digits/tail MP:0005371 9.97 DYNC2H1 DYNC2LI1 EVC EVC2 HSPB11 IFT122
6 mortality/aging MP:0010768 9.83 DYNC2H1 DYNC2I1 DYNC2LI1 EVC EVC2 HSPB11
7 skeleton MP:0005390 9.32 DYNC2H1 EVC EVC2 HSPB11 IFT80 INTU

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

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 12:

40
Eye, Pancreas, Tongue, Bone, Spleen, Liver, Testes

Publications for Short-Rib Thoracic Dysplasia 12

Articles related to Short-Rib Thoracic Dysplasia 12:

(show all 20)
# Title Authors PMID Year
1
Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. 61 57
8209908 1994
2
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. 57 61
1867273 1991
3
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
4
Ciliary disorder of the skeleton. 57
22791528 2012
5
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 57
22499340 2012
6
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. 57
17058284 2006
7
Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. 57
8946117 1996
8
New findings in short rib syndrome. 57
8488867 1993
9
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. 57
1360767 1992
10
Short rib syndrome--Beemer type in sibs. 57
1897578 1991
11
Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. 57
1867272 1991
12
Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. 57
2070548 1991
13
A lethal short rib syndrome without polydactyly. 57
3385743 1988
14
Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. 57
6682288 1983
15
A new short rib syndrome: report of two cases. 57
6829599 1983
16
Mutations in IFT80 cause SRPS Type IV. Report of two families and review. 61
30767363 2019
17
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. 61
28370949 2017
18
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. 61
19475553 2009
19
New case of Beemer-Langer syndrome. 61
10742417 2000
20
Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. 61
8488883 1993

Variations for Short-Rib Thoracic Dysplasia 12

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
2
Show member pathways
12.3 WDR35 WDR19 TTC21B INTU IFT122 EVC2
3 11.11 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80

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 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 INTU
2 cytoskeleton GO:0005856 10.2 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 INTU
3 centrosome GO:0005813 10.14 WDR35 TRAF3IP1 NEK1 IFT80 IFT46 IFT22
4 ciliary tip GO:0097542 10 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
5 microtubule organizing center GO:0005815 9.96 WDR35 NEK1 DYNC2LI1 DYNC2I2 DYNC2I1
6 ciliary basal body GO:0036064 9.96 WDR35 TTC30B TRAF3IP1 INTU IFT80 IFT46
7 axoneme GO:0005930 9.95 WDR35 TRAF3IP1 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2H1
8 motile cilium GO:0031514 9.89 WDR19 INTU IFT46 DYNC2LI1 DYNC2H1
9 cell projection GO:0042995 9.89 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 INTU
10 intraciliary transport particle B GO:0030992 9.85 TTC30B TRAF3IP1 IFT80 IFT46 IFT22 HSPB11
11 cytoplasmic dynein complex GO:0005868 9.83 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
12 intraciliary transport particle A GO:0030991 9.76 WDR35 WDR19 TTC21B IFT122
13 ciliary base GO:0097546 9.71 TRAF3IP1 DYNLT2B DYNC2I1
14 pericentriolar material GO:0000242 9.58 NEK1 DYNC2I1
15 plasma membrane protein complex GO:0098797 9.57 EVC2 EVC
16 cilium GO:0005929 9.55 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
17 ciliary plasm GO:0097014 9.52 DYNC2I2 DYNC2I1
18 interphase microtubule organizing center GO:0031021 9.51 DYNLT2B DYNC2I1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 10.02 WDR35 WDR19 TTC30B TRAF3IP1 NEK1 INTU
2 intraciliary transport GO:0042073 9.86 WDR35 TTC30B TRAF3IP1 IFT46 IFT122 HSPB11
3 intraciliary retrograde transport GO:0035721 9.81 WDR35 WDR19 TTC21B IFT122 DYNLT2B DYNC2LI1
4 cilium assembly GO:0060271 9.8 WDR35 WDR19 TRAF3IP1 NEK1 INTU IFT80
5 smoothened signaling pathway GO:0007224 9.77 WDR19 TTC21B IFT80 EVC2 EVC
6 non-motile cilium assembly GO:1905515 9.73 INTU IFT80 IFT122 DYNC2H1
7 kidney development GO:0001822 9.71 TRAF3IP1 HSPB11 DYNC2H1
8 protein localization to cilium GO:0061512 9.71 WDR35 TTC21B IFT122 DYNC2H1
9 microtubule-based movement GO:0007018 9.69 DYNC2I2 DYNC2I1 DYNC2H1
10 limb development GO:0060173 9.67 INTU IFT80 IFT122
11 positive regulation of smoothened signaling pathway GO:0045880 9.65 INTU EVC DYNC2H1
12 regulation of smoothened signaling pathway GO:0008589 9.52 TTC21B INTU
13 intraciliary transport involved in cilium assembly GO:0035735 9.47 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
14 regulation of intraciliary retrograde transport GO:1905799 9.46 TTC21B DYNLT2B

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

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

Sources for Short-Rib Thoracic Dysplasia 12

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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