SRTD10
MCID: SHR064
MIFTS: 45

Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly (SRTD10)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 57 12 72 29 6 15 70
Srtd10 57 12 72
Short Rib-Polydactyly Syndrome 44 70
Dysplasia, Thoracic, Short-Rib, Type 10 with or Without Polydactyly 39
Short-Rib Thoracic Dysplasia 10 Without Polydactyly 6

Characteristics:

OMIM®:

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


HPO:

31
short-rib thoracic dysplasia 10 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 10 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). (615630) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly, also known as srtd10, is related to short-rib thoracic dysplasia 1 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly is IFT172 (Intraflagellar Transport 172). Affiliated tissues include eye, pancreas and kidney, and related phenotypes are hydrocephalus and genu valgum

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 10 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 10 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 10 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 31.8 KRTCAP3 IFT172
2 short-rib thoracic dysplasia 3 with or without polydactyly 12.2
3 short-rib thoracic dysplasia 6 with or without polydactyly 12.1
4 short-rib thoracic dysplasia 12 12.0
5 short-rib thoracic dysplasia 7 with or without polydactyly 11.9
6 short rib-polydactyly syndrome 11.8
7 short-rib thoracic dysplasia 8 with or without polydactyly 11.8
8 short-rib thoracic dysplasia 4 with or without polydactyly 11.4
9 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
10 short-rib thoracic dysplasia 14 with polydactyly 11.4
11 short-rib thoracic dysplasia 15 with polydactyly 11.4
12 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
13 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
14 short-rib thoracic dysplasia 18 with polydactyly 11.4
15 short-rib thoracic dysplasia 19 with or without polydactyly 11.4
16 short-rib thoracic dysplasia 9 with or without polydactyly 11.4
17 short-rib thoracic dysplasia 2 with or without polydactyly 11.4
18 short-rib thoracic dysplasia 5 with or without polydactyly 11.4
19 short-rib thoracic dysplasia 20 with polydactyly 11.4
20 atelosteogenesis, type i 11.2
21 boomerang dysplasia 11.2
22 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
23 polydactyly 11.1
24 skeletal dysplasias 10.7
25 dwarfism 10.6
26 noonan syndrome 1 10.4
27 pseudo-turner syndrome 10.4
28 cleft palate, isolated 10.4
29 ellis-van creveld syndrome 10.4
30 asphyxiating thoracic dystrophy 10.4
31 situs inversus 10.4
32 oligohydramnios 10.3
33 cleft lip 10.3
34 ciliopathy 10.3
35 chromosome 2q35 duplication syndrome 10.2
36 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
37 cranioectodermal dysplasia 10.2
38 autosomal recessive disease 10.2
39 microcephaly 10.2
40 cystic lymphangioma 10.2
41 renal dysplasia 10.2
42 coarctation of aorta 10.1
43 heart, malformation of 10.1
44 odontochondrodysplasia 10.1
45 renal hypodysplasia/aplasia 1 10.1
46 anencephaly 10.1
47 joubert syndrome 1 10.1
48 conotruncal heart malformations 10.1
49 orofaciodigital syndrome iv 10.1
50 polycystic kidney disease 4 with or without polycystic liver disease 10.1

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 occasional (7.5%) HP:0000238
2 genu valgum 31 occasional (7.5%) HP:0002857
3 glucose intolerance 31 occasional (7.5%) HP:0001952
4 obesity 31 occasional (7.5%) HP:0001513
5 ventriculomegaly 31 occasional (7.5%) HP:0002119
6 ventricular septal defect 31 occasional (7.5%) HP:0001629
7 nyctalopia 31 occasional (7.5%) HP:0000662
8 postaxial hand polydactyly 31 occasional (7.5%) HP:0001162
9 oral cleft 31 occasional (7.5%) HP:0000202
10 cerebellar vermis hypoplasia 31 occasional (7.5%) HP:0001320
11 oculomotor apraxia 31 occasional (7.5%) HP:0000657
12 impaired glucose tolerance 31 very rare (1%) HP:0040270
13 intellectual disability 31 HP:0001249
14 splenomegaly 31 HP:0001744
15 hepatomegaly 31 HP:0002240
16 short stature 31 HP:0004322
17 hepatic fibrosis 31 HP:0001395
18 brachydactyly 31 HP:0001156
19 hepatic failure 31 HP:0001399
20 cholestasis 31 HP:0001396
21 nephronophthisis 31 HP:0000090
22 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
23 thoracic hypoplasia 31 HP:0005257
24 retinal degeneration 31 HP:0000546
25 short long bone 31 HP:0003026
26 chronic kidney disease 31 HP:0012622
27 bell-shaped thorax 31 HP:0001591
28 short ribs 31 HP:0000773
29 lateral clavicle hook 31 HP:0000895
30 thoracic dysplasia 31 HP:0006644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Genitourinary Kidneys:
nephronophthisis
progressive renal failure
end-stage renal disease by third decade of life
structural abnormalities, mild
cystic dysplasia, early (in some patients)

Chest External Features:
bell-shaped thorax
small thorax

Skeletal Feet:
polydactyly, postaxial (rare)

Cardiovascular Heart:
ventricular septal defect (rare)

Skeletal Pelvis:
trident acetabulum

Metabolic Features:
impaired glucose tolerance (in some patients)

Respiratory Lung:
chronic respiratory distress (in some patients)

Abdomen Liver:
hepatomegaly
hepatic fibrosis
cholestasis
liver failure
dilated intrahepatic bile ducts

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

Head And Neck Eyes:
retinal degeneration
night blindness (in some patients)
oculomotor apraxia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles

Neurologic Central Nervous System:
mental retardation
hydrocephalus (rare)
cerebellar vermis hypoplasia (in some patients)
ventriculomegaly, mild (rare)

Skeletal Limbs:
short long bones
genu valgum (rare)

Growth Weight:
obesity (in some patients)

Head And Neck Mouth:
cleft lip/palate (rare)

Clinical features from OMIM®:

615630 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Cochrane evidence based reviews: short rib-polydactyly syndrome

Genetic Tests for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 29 IFT172

Anatomical Context for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

40
Eye, Pancreas, Kidney, Bone, Liver, Brain, Tongue

Publications for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

(show top 50) (show all 147)
# Title Authors PMID Year
1
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 57 6
24140113 2013
2
Visual loss as the presenting sign of Jeune syndrome. 57 6
11030072 2000
3
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
4
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
5
A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. 6
25664603 2015
6
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
7
Ciliary disorder of the skeleton. 57
22791528 2012
8
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy. 61
33030252 2020
9
Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. 61
31609148 2020
10
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review. 61
32080096 2020
11
Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy. 61
30375052 2019
12
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. 61
30790652 2019
13
Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy. 61
29982567 2018
14
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. 61
29635032 2018
15
Corrigendum to "Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome" [Taiwanese Journal of Obstetrics & Gynecology 56 (2017) 857-862]. 61
30122595 2018
16
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios. 61
29359448 2018
17
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. 61
29271569 2018
18
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 a fetus. 61
29458881 2018
19
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 61
28870638 2017
20
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. 61
29241935 2017
21
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. 61
28400947 2017
22
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. 61
27466190 2016
23
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. 61
27666822 2016
24
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. 61
27466187 2016
25
Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. 61
26970085 2016
26
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. 61
27323140 2016
27
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 61
26691894 2016
28
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 61
26386044 2015
29
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 61
26166481 2015
30
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. 61
25410398 2015
31
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. 61
25982780 2015
32
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 61
26077881 2015
33
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome. 61
26078906 2015
34
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. 61
25830415 2015
35
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. 61
24854045 2014
36
Clinical genetics and pathobiology of ciliary chondrodysplasias. 61
25506500 2014
37
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. 61
24183449 2013
38
Recurrent short rib polydactyly syndrome. 61
23259870 2013
39
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. 61
23276573 2012
40
Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene. 61
22795106 2012
41
Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography. 61
22105337 2012
42
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. 61
22482978 2012
43
A short rib polydactyly syndrome overlapping both lethal and nonlethal types. 61
22876582 2012
44
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. 61
21159031 2011
45
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 61
21211617 2011
46
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 61
20607029 2010
47
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. 61
19475553 2009
48
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 61
19442771 2009
49
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 61
19361615 2009
50
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 61
19522446 2009

Variations for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

6 (show top 50) (show all 302)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT172 NM_015662.3(IFT172):c.4607T>C (p.Leu1536Pro) SNV Pathogenic 97025 rs587777080 GRCh37: 2:27670434-27670434
GRCh38: 2:27447567-27447567
2 IFT172 NM_015662.3(IFT172):c.2716C>T (p.Gln906Ter) SNV Pathogenic 97026 rs587777081 GRCh37: 2:27682316-27682316
GRCh38: 2:27459449-27459449
3 IFT172 NM_015662.3(IFT172):c.3228+1G>A SNV Pathogenic 97027 rs587777082 GRCh37: 2:27680505-27680505
GRCh38: 2:27457638-27457638
4 IFT172 NM_015662.3(IFT172):c.1390_1395del (p.Asp464_Ile465del) Deletion Pathogenic 97030 rs587777084 GRCh37: 2:27699524-27699529
GRCh38: 2:27476657-27476662
5 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4921_4922GA[2] (p.Arg1642fs) Microsatellite Pathogenic 97023 rs587777078 GRCh37: 2:27668303-27668306
GRCh38: 2:27445436-27445439
6 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) SNV Pathogenic 97022 rs149614625 GRCh37: 2:27667370-27667370
GRCh38: 2:27444503-27444503
7 IFT172 NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) SNV Pathogenic 97024 rs587777079 GRCh37: 2:27670411-27670411
GRCh38: 2:27447544-27447544
8 IFT172 NM_015662.3(IFT172):c.1232T>A (p.Ile411Asn) SNV Pathogenic 97031 rs587777085 GRCh37: 2:27700177-27700177
GRCh38: 2:27477310-27477310
9 IFT172 NM_015662.3(IFT172):c.2158del (p.Arg720fs) Deletion Pathogenic 97032 rs587777086 GRCh37: 2:27684661-27684661
GRCh38: 2:27461794-27461794
10 IFT172 NM_015662.3(IFT172):c.811C>T (p.Arg271Ter) SNV Pathogenic 579128 rs1250676888 GRCh37: 2:27702991-27702991
GRCh38: 2:27480124-27480124
11 IFT172 NC_000002.12:g.(?_27462701)_(27463181_?)del Deletion Pathogenic 831594 GRCh37: 2:27685568-27686048
GRCh38:
12 IFT172 NM_015662.3(IFT172):c.148A>T (p.Arg50Ter) SNV Pathogenic 938394 GRCh37: 2:27708262-27708262
GRCh38: 2:27485395-27485395
13 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) SNV Pathogenic 97022 rs149614625 GRCh37: 2:27667370-27667370
GRCh38: 2:27444503-27444503
14 IFT172 NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter) SNV Pathogenic 816981 rs202024173 GRCh37: 2:27684213-27684213
GRCh38: 2:27461346-27461346
15 IFT172 NM_015662.3(IFT172):c.2158del (p.Arg720fs) Deletion Pathogenic 97032 rs587777086 GRCh37: 2:27684661-27684661
GRCh38: 2:27461794-27461794
16 IFT172 NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) SNV Pathogenic 866056 GRCh37: 2:27676352-27676352
GRCh38: 2:27453485-27453485
17 IFT172 NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) Duplication Pathogenic 446697 rs750338419 GRCh37: 2:27682266-27682267
GRCh38: 2:27459399-27459400
18 IFT172 NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) SNV Pathogenic 97028 rs145541911 GRCh37: 2:27702916-27702916
GRCh38: 2:27480049-27480049
19 IFT172 NM_015662.3(IFT172):c.4051-1G>A SNV Likely pathogenic 971863 GRCh37: 2:27672668-27672668
GRCh38: 2:27449801-27449801
20 IFT172 NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) SNV Likely pathogenic 975059 GRCh37: 2:27695196-27695196
GRCh38: 2:27472329-27472329
21 IFT172 NM_015662.3(IFT172):c.112C>T (p.Arg38Ter) SNV Likely pathogenic 208589 rs139021548 GRCh37: 2:27708298-27708298
GRCh38: 2:27485431-27485431
22 IFT172 NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) SNV Uncertain significance 476043 rs773174861 GRCh37: 2:27684374-27684374
GRCh38: 2:27461507-27461507
23 IFT172 NM_015662.3(IFT172):c.4209G>C (p.Gln1403His) SNV Uncertain significance 641124 rs149065251 GRCh37: 2:27672381-27672381
GRCh38: 2:27449514-27449514
24 IFT172 NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) SNV Uncertain significance 647005 rs369169776 GRCh37: 2:27685647-27685647
GRCh38: 2:27462780-27462780
25 IFT172 NM_015662.3(IFT172):c.247A>G (p.Ile83Val) SNV Uncertain significance 649133 rs142227350 GRCh37: 2:27707934-27707934
GRCh38: 2:27485067-27485067
26 IFT172 NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) SNV Uncertain significance 649457 rs368343162 GRCh37: 2:27706480-27706480
GRCh38: 2:27483613-27483613
27 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) SNV Uncertain significance 662250 rs777980611 GRCh37: 2:27669205-27669205
GRCh38: 2:27446338-27446338
28 IFT172 NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) SNV Uncertain significance 565931 rs767999703 GRCh37: 2:27704025-27704025
GRCh38: 2:27481158-27481158
29 IFT172 NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile) SNV Uncertain significance 567601 rs779801761 GRCh37: 2:27670393-27670393
GRCh38: 2:27447526-27447526
30 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) SNV Uncertain significance 567846 rs917873749 GRCh37: 2:27668172-27668172
GRCh38: 2:27445305-27445305
31 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.5160+5G>A SNV Uncertain significance 956241 GRCh37: 2:27667876-27667876
GRCh38: 2:27445009-27445009
32 IFT172 NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) SNV Uncertain significance 958328 GRCh37: 2:27684314-27684314
GRCh38: 2:27461447-27461447
33 IFT172 NM_015662.3(IFT172):c.2222G>A (p.Arg741His) SNV Uncertain significance 960647 GRCh37: 2:27684356-27684356
GRCh38: 2:27461489-27461489
34 IFT172 NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln) SNV Uncertain significance 961386 GRCh37: 2:27680603-27680603
GRCh38: 2:27457736-27457736
35 IFT172 NM_015662.3(IFT172):c.2159G>A (p.Arg720His) SNV Uncertain significance 964509 GRCh37: 2:27684660-27684660
GRCh38: 2:27461793-27461793
36 IFT172 NM_015662.3(IFT172):c.1937+10A>G SNV Uncertain significance 964731 GRCh37: 2:27688268-27688268
GRCh38: 2:27465401-27465401
37 IFT172 NM_015662.3(IFT172):c.2443-3C>T SNV Uncertain significance 965483 GRCh37: 2:27683963-27683963
GRCh38: 2:27461096-27461096
38 IFT172 NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) SNV Uncertain significance 966074 GRCh37: 2:27702903-27702903
GRCh38: 2:27480036-27480036
39 IFT172 NM_015662.3(IFT172):c.2873A>C (p.His958Pro) SNV Uncertain significance 969005 GRCh37: 2:27681650-27681650
GRCh38: 2:27458783-27458783
40 IFT172 NM_015662.3(IFT172):c.650G>A (p.Arg217Gln) SNV Uncertain significance 969654 GRCh37: 2:27704048-27704048
GRCh38: 2:27481181-27481181
41 IFT172 NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr) SNV Uncertain significance 970381 GRCh37: 2:27670731-27670731
GRCh38: 2:27447864-27447864
42 IFT172 NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly) SNV Uncertain significance 941559 GRCh37: 2:27676325-27676325
GRCh38: 2:27453458-27453458
43 IFT172 NM_015662.3(IFT172):c.2839A>G (p.Met947Val) SNV Uncertain significance 941837 GRCh37: 2:27681684-27681684
GRCh38: 2:27458817-27458817
44 IFT172 NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) SNV Uncertain significance 942017 GRCh37: 2:27684661-27684661
GRCh38: 2:27461794-27461794
45 IFT172 NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) SNV Uncertain significance 943505 GRCh37: 2:27684228-27684228
GRCh38: 2:27461361-27461361
46 IFT172 NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) SNV Uncertain significance 943676 GRCh37: 2:27708351-27708351
GRCh38: 2:27485484-27485484
47 IFT172 NM_015662.3(IFT172):c.2122G>A (p.Val708Met) SNV Uncertain significance 943712 GRCh37: 2:27684697-27684697
GRCh38: 2:27461830-27461830
48 IFT172 NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) SNV Uncertain significance 946710 GRCh37: 2:27685989-27685989
GRCh38: 2:27463122-27463122
49 IFT172 , KRTCAP3 NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) SNV Uncertain significance 955307 GRCh37: 2:27668658-27668658
GRCh38: 2:27445791-27445791
50 IFT172 NM_015662.3(IFT172):c.3153C>G (p.His1051Gln) SNV Uncertain significance 836187 GRCh37: 2:27680581-27680581
GRCh38: 2:27457714-27457714

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly:

72
# Symbol AA change Variation ID SNP ID
1 IFT172 p.Arg296Trp VAR_070956 rs145541911
2 IFT172 p.Ile411Asn VAR_070957 rs587777085
3 IFT172 p.Leu1536Pro VAR_070959 rs587777080
4 IFT172 p.Arg1544Cys VAR_070960 rs587777079
5 IFT172 p.Cys1727Arg VAR_070961 rs149614625

Expression for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

GO Terms for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Biological processes related to Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 8.96 ZIC3 IFT172
2 heart looping GO:0001947 8.62 ZIC3 IFT172

Sources for Short-Rib Thoracic Dysplasia 10 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
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51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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