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 56
Beemer-Langer Syndrome 56 12 74 15
Short Rib-Polydactyly Syndrome, Beemer Type 43 71
Type Iv Short Rib Polydactyly Syndrome 12 6
Short Rib-Polydactyly Syndrome Type 4 52 58
Short Rib-Polydactyly Syndrome, Beemer-Langer Type 58
Short Rib Polydactyly Syndrome Beemer-Langer Type 52
Short Rib-Polydactyly Syndrome, Type Iv; Srps4 56
Short Rib-Polydactyly Syndrome Beemer Type 52
Short Rib-Polydactyly Syndrome, Type Iv 56
Short Rib-Polydactyly Syndrome Type Iv 52
Dysplasia, Short-Rib Thoracic, Type 12 39
Short Rib Syndrome, Beemer Type 56
Beemer Langer Syndrome 52
Srps Type 4 52
Srps Iv 56
Srtd12 56
Srps4 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
neonatal lethal due to respiratory insufficiency


HPO:

31
short-rib thoracic dysplasia 12:
Clinical modifier 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 : 56 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). (269860)

MalaCards based summary : Short-Rib Thoracic Dysplasia 12, also known as beemer-langer syndrome, is related to ciliopathy and orofaciodigital syndrome, 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 Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, brain and kidney, and related phenotypes are splenomegaly and hepatomegaly

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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93268 Definition Short 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 63)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 30.7 WDR19 TTC21B KIAA0586
2 orofaciodigital syndrome 30.7 KIAA0586 IFT80 EVC
3 brachydactyly 30.4 WDR35 WDR19 IFT43 IFT122
4 short rib-polydactyly syndrome 29.9 WDR35 TTC21B NEK1 IFT43 DYNC2LI1 DYNC2I2
5 polydactyly 27.5 WDR35 WDR19 TTC21B TCTEX1D2 NEK1 KIAA0586
6 short-rib thoracic dysplasia 6 with or without polydactyly 26.2 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 TCTEX1D2
7 renal dysplasia 10.5
8 short-rib thoracic dysplasia 10 with or without polydactyly 10.5
9 anodontia 10.4 EVC2 EVC
10 short-rib thoracic dysplasia 2 with or without polydactyly 10.3 WDR19 TTC21B IFT80
11 cleft palate, isolated 10.3
12 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
13 hypertelorism 10.3
14 odontochondrodysplasia 10.3
15 teeth present at birth 10.3
16 dandy-walker syndrome 10.3
17 hydrops fetalis, nonimmune 10.3
18 clubfoot 10.3
19 cleft lip 10.3
20 cleft tongue 10.3
21 skeletal dysplasias 10.3
22 cleft lip with or without cleft palate 10.3
23 nephronophthisis 13 10.3 WDR19 TTC21B
24 bone development disease 10.3 IFT80 EVC2 EVC
25 oculoauricular syndrome 10.3 EVC2 EVC
26 polycystic kidney disease 4 with or without polycystic liver disease 10.3 WDR19 TTC21B IFT80
27 cystic kidney disease 10.3 TTC21B NEK1 IFT80
28 orofaciodigital syndrome iv 10.3 DYNC2I2 DYNC2I1
29 acrofacial dysostosis 10.2 WDR35 IFT80 EVC2 EVC
30 cystic lymphangioma 10.2
31 nephronophthisis 12 10.2 WDR19 TTC21B
32 short-rib thoracic dysplasia 5 with or without polydactyly 10.2 WDR35 WDR19 TTC21B IFT122
33 bardet-biedl syndrome 7 10.2 TCTEX1D2 DYNC2I2 DYNC2I1
34 short-rib thoracic dysplasia 14 with polydactyly 10.1 KIAA0586 EVC
35 joubert syndrome 4 10.1 TTC21B KIAA0586 IFT80
36 clouston syndrome 10.1 EVC2 EVC
37 endocrine-cerebroosteodysplasia 10.1 KIAA0586 EVC
38 joubert syndrome 3 10.1 WDR19 TTC21B IFT80 CEP120
39 short-rib thoracic dysplasia 4 with or without polydactyly 10.1 WDR35 TTC21B TCTEX1D2 DYNC2I1
40 visceral heterotaxy 10.0 TTC21B IFT80 IFT46
41 short-rib thoracic dysplasia 8 with or without polydactyly 10.0 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1
42 short-rib thoracic dysplasia 11 with or without polydactyly 10.0 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1
43 polydactyly, postaxial, type a1 10.0 EVC2 EVC
44 craniosynostosis 10.0 WDR35 WDR19 IFT43 IFT122
45 short-rib thoracic dysplasia 9 with or without polydactyly 9.9 WDR35 WDR19 TTC21B IFT43 IFT122
46 short-rib thoracic dysplasia 7 with or without polydactyly 9.8 WDR35 WDR19 TTC21B TCTEX1D2 IFT122 DYNC2I1
47 senior-loken syndrome 1 9.8 WDR19 TTC30B TTC21B TRAF3IP1 IFT80 IFT122
48 kartagener syndrome 9.8 TTC30B TRAF3IP1 IFT80 IFT46 IFT22
49 joubert syndrome 17 9.4 WDR35 WDR19 TTC21B TRAF3IP1 IFT74 IFT43
50 nephronophthisis 9.2 WDR35 WDR19 TTC21B TRAF3IP1 KIAA0586 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 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 inguinal hernia 31 HP:0000023
4 hypertelorism 31 HP:0000316
5 short neck 31 HP:0000470
6 macrocephaly 31 HP:0000256
7 hydrocephalus 31 HP:0000238
8 edema 31 HP:0000969
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 respiratory insufficiency 31 HP:0002093
18 brachydactyly 31 HP:0001156
19 polyhydramnios 31 HP:0001561
20 patent ductus arteriosus 31 HP:0001643
21 holoprosencephaly 31 HP:0001360
22 atelectasis 31 HP:0100750
23 renal hypoplasia 31 HP:0000089
24 ventricular septal defect 31 HP:0001629
25 intestinal malrotation 31 HP:0002566
26 high forehead 31 HP:0000348
27 narrow chest 31 HP:0000774
28 short finger 31 HP:0009381
29 ambiguous genitalia 31 HP:0000062
30 omphalocele 31 HP:0001539
31 short foot 31 HP:0001773
32 hypoplastic nipples 31 HP:0002557
33 median cleft lip and palate 31 HP:0008501
34 anencephaly 31 HP:0002323
35 broad foot 31 HP:0001769
36 broad palm 31 HP:0001169
37 short palm 31 HP:0004279
38 hypoplastic scapulae 31 HP:0000882
39 pulmonary hypoplasia 31 HP:0002089
40 posteriorly rotated ears 31 HP:0000358
41 protuberant abdomen 31 HP:0001538
42 limb undergrowth 31 HP:0009826
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:

56
Abdomen External Features:
inguinal hernia
omphalocele
protuberant abdomen

Head And Neck Neck:
short neck
nuchal edema

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

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

Head And Neck Eyes:
hypertelorism
epicanthal folds

Chest External Features:
short thorax
narrow thorax

Abdomen:
ascites

Growth Other:
intrauterine growth retardation

Respiratory:
respiratory insufficiency

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

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 cellular MP:0005384 10.18 CEP120 DYNC2LI1 EVC EVC2 IFT122 IFT46
2 cardiovascular system MP:0005385 10.09 CEP120 DYNC2I1 DYNC2LI1 IFT122 IFT43 IFT46
3 growth/size/body region MP:0005378 10.07 CEP120 DYNC2I1 DYNC2LI1 EVC EVC2 IFT122
4 embryo MP:0005380 10.06 CEP120 DYNC2I1 DYNC2LI1 IFT122 IFT43 IFT46
5 craniofacial MP:0005382 10.02 EVC EVC2 IFT122 IFT43 IFT80 KIAA0586
6 limbs/digits/tail MP:0005371 9.85 DYNC2LI1 EVC EVC2 IFT122 IFT80 KIAA0586
7 mortality/aging MP:0010768 9.83 CEP120 DYNC2I1 DYNC2LI1 EVC EVC2 IFT122
8 nervous system MP:0003631 9.32 CEP120 DYNC2LI1 IFT122 IFT43 IFT46 KIAA0586

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

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 56
8209908 1994
2
Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. 56 61
1867273 1991
3
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 56
24183451 2013
4
Ciliary disorder of the skeleton. 56
22791528 2012
5
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 56
22499340 2012
6
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. 56
17058284 2006
7
Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. 56
8946117 1996
8
New findings in short rib syndrome. 56
8488867 1993
9
International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone. 56
1360767 1992
10
Short rib syndrome--Beemer type in sibs. 56
1897578 1991
11
Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. 56
1867272 1991
12
Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. 56
2070548 1991
13
A lethal short rib syndrome without polydactyly. 56
3385743 1988
14
Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly. 56
6682288 1983
15
A new short rib syndrome: report of two cases. 56
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 IFT80 NM_020800.3(IFT80):c.487_490del (p.Leu163fs)deletion Pathogenic 446652 rs1553764834 3:160083890-160083893 3:160366102-160366105
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 WDR19 NM_025132.4(WDR19):c.3484-2A>CSNV Pathogenic 446636 rs1553918403 4:39274598-39274598 4:39272978-39272978
5 TTC21B NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro)SNV Pathogenic 446651 rs759086770 2:166740383-166740383 2:165883873-165883873
6 EVC2 NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter)SNV Pathogenic 446664 rs769864196 4:5633522-5633522 4:5631795-5631795
7 TTC21B NM_024753.5(TTC21B):c.1320del (p.Phe440fs)deletion Likely pathogenic 446650 rs775836730 2:166785711-166785711 2:165929201-165929201
8 EVC2 NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)SNV Likely pathogenic 446685 rs376133710 4:5578118-5578118 4:5576391-5576391
9 EVC2 NM_147127.5(EVC2):c.1823G>A (p.Arg608His)SNV Conflicting interpretations of pathogenicity 281122 rs145693546 4:5630349-5630349 4:5628622-5628622
10 IFT80 NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)SNV Uncertain significance 406217 rs140202230 3:160021761-160021761 3:160303973-160303973
11 DYNC2H1 NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)SNV Uncertain significance 216490 rs200190291 11:103048457-103048457 11:103177728-103177728

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 TCTEX1D2
2
Show member pathways
12.17 WDR35 WDR19 TTC21B IFT122 EVC2 EVC
3 11.11 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 TCTEX1D2

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 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 KIAA0586
2 cytoskeleton GO:0005856 10.24 WDR35 WDR19 TTC21B TRAF3IP1 NEK1 KIAA0586
3 centrosome GO:0005813 10.1 WDR35 TRAF3IP1 TCTEX1D2 NEK1 KIAA0586 IFT80
4 ciliary tip GO:0097542 10 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
5 microtubule organizing center GO:0005815 9.96 WDR35 NEK1 KIAA0586 DYNC2LI1 CEP120
6 ciliary basal body GO:0036064 9.96 WDR35 TTC30B TRAF3IP1 KIAA0586 IFT80 IFT46
7 axoneme GO:0005930 9.88 WDR35 TRAF3IP1 TCTEX1D2 DYNC2LI1 DYNC2I2
8 intraciliary transport particle B GO:0030992 9.88 TTC30B TRAF3IP1 IFT80 IFT74 IFT46 IFT22
9 cilium GO:0005929 9.86 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
10 motile cilium GO:0031514 9.84 WDR19 IFT74 IFT46 DYNC2LI1
11 intraciliary transport particle A GO:0030991 9.83 WDR35 WDR19 TTC21B IFT43 IFT122
12 ciliary base GO:0097546 9.8 TRAF3IP1 TCTEX1D2 IFT122 DYNC2I1
13 centriole GO:0005814 9.76 KIAA0586 DYNC2I2 CEP120
14 cytoplasmic dynein complex GO:0005868 9.76 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1
15 pericentriolar material GO:0000242 9.58 NEK1 DYNC2I1
16 plasma membrane protein complex GO:0098797 9.57 EVC2 EVC
17 cell projection GO:0042995 9.55 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 KIAA0586
18 ciliary plasm GO:0097014 9.52 DYNC2I2 DYNC2I1
19 interphase microtubule organizing center GO:0031021 9.51 TCTEX1D2 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 smoothened signaling pathway GO:0007224 9.91 WDR19 TTC21B KIAA0586 IFT80 IFT46 EVC2
2 cell projection organization GO:0030030 9.9 WDR35 WDR19 TTC30B TRAF3IP1 NEK1 KIAA0586
3 intraciliary transport GO:0042073 9.86 WDR35 TTC30B TRAF3IP1 IFT74 IFT46 IFT122
4 intraciliary retrograde transport GO:0035721 9.8 WDR35 WDR19 TTC21B IFT43 IFT122 DYNC2LI1
5 cilium assembly GO:0060271 9.8 WDR35 WDR19 TRAF3IP1 TCTEX1D2 NEK1 KIAA0586
6 negative regulation of epithelial cell proliferation GO:0050680 9.69 IFT80 IFT74 IFT122
7 non-motile cilium assembly GO:1905515 9.65 IFT80 IFT74 IFT122
8 protein localization to cilium GO:0061512 9.61 WDR35 TTC21B IFT122
9 embryonic heart tube development GO:0035050 9.54 TRAF3IP1 IFT122
10 embryonic camera-type eye development GO:0031076 9.52 WDR19 TRAF3IP1
11 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.49 WDR19 IFT122
12 intraciliary transport involved in cilium assembly GO:0035735 9.47 WDR35 WDR19 TTC30B TTC21B TRAF3IP1 IFT80
13 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.46 WDR19 IFT122
14 regulation of intraciliary retrograde transport GO:1905799 9.4 TTC21B TCTEX1D2

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 8.96 DYNC2I2 DYNC2I1
2 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....