MCID: SHR064
MIFTS: 39

Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly

Categories: Genetic 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 75 29 6 73
Srtd10 57 12 75
Short Rib-Polydactyly Syndrome 44 73
Dysplasia, Thoracic, Short-Rib, Type 10 with or Without Polydactyly 40
Short-Rib Thoracic Dysplasia 10 Without Polydactyly 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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)

MalaCards based summary : Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly, also known as srtd10, is related to short-rib thoracic dysplasia 3 with or without polydactyly and short-rib thoracic dysplasia 6 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 bone, kidney and liver, and related phenotypes are hypertelorism and obesity

UniProtKB/Swiss-Prot : 75 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.

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

Related Diseases for Short-Rib Thoracic Dysplasia 10 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 all 41)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 3 with or without polydactyly 12.5
2 short-rib thoracic dysplasia 6 with or without polydactyly 12.4
3 short-rib thoracic dysplasia 12 12.3
4 short-rib thoracic dysplasia 7 with or without polydactyly 12.1
5 short-rib thoracic dysplasia 8 with or without polydactyly 12.0
6 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
7 short-rib thoracic dysplasia 2 with or without polydactyly 11.3
8 short-rib thoracic dysplasia 4 with or without polydactyly 11.3
9 short-rib thoracic dysplasia 5 with or without polydactyly 11.3
10 short-rib thoracic dysplasia 11 with or without polydactyly 11.3
11 short-rib thoracic dysplasia 14 with polydactyly 11.3
12 short-rib thoracic dysplasia 15 with polydactyly 11.3
13 short-rib thoracic dysplasia 16 with or without polydactyly 11.3
14 short-rib thoracic dysplasia 17 with or without polydactyly 11.3
15 short-rib thoracic dysplasia 18 with polydactyly 11.3
16 atelosteogenesis, type i 11.1
17 boomerang dysplasia 11.1
18 short-rib thoracic dysplasia 1 with or without polydactyly 11.1
19 short-rib thoracic dysplasia 13 with or without polydactyly 11.1
20 short-rib thoracic dysplasia 19 with or without polydactyly 11.1
21 short-rib thoracic dysplasia 20 with polydactyly 11.1
22 polydactyly 11.0
23 type i 10.4
24 skeletal dysplasias 10.2
25 noonan syndrome 1 10.1
26 asphyxiating thoracic dystrophy 10.1
27 pancreatitis 10.1
28 situs inversus 10.1
29 pseudo-turner syndrome 10.1
30 anencephaly 10.0
31 pulmonary hypertension 10.0
32 oligohydramnios 10.0
33 ventricular septal defect 10.0
34 cystic lymphangioma 10.0
35 laryngitis 10.0
36 orofaciodigital syndrome 10.0
37 kidney disease 10.0
38 epiglottitis 10.0
39 renal dysplasia 10.0
40 retinitis pigmentosa 71 9.2 IFT172 KRTCAP3
41 retinitis pigmentosa 9.0 IFT172 KRTCAP3

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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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 Ribs Sternum Clavicles And Scapulae:
short ribs
handlebar clavicles

Skeletal Feet:
polydactyly, postaxial (rare)

Skeletal Limbs:
short long bones
genu valgum (rare)

Growth Weight:
obesity (in some patients)

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

Skeletal Pelvis:
trident acetabulum

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

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

Chest External Features:
bell-shaped thorax
small thorax

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

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

Cardiovascular Heart:
ventricular septal defect (rare)

Metabolic Features:
impaired glucose tolerance (in some patients)

Respiratory Lung:
chronic respiratory distress (in some patients)


Clinical features from OMIM:

615630

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

32 (show top 50) (show all 75)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 hallmark (90%) HP:0000316
2 obesity 32 occasional (7.5%) HP:0001513
3 frontal bossing 32 hallmark (90%) HP:0002007
4 genu valgum 32 occasional (7.5%) HP:0002857
5 finger syndactyly 32 frequent (33%) HP:0006101
6 hydrocephalus 32 occasional (7.5%) HP:0000238
7 intellectual disability 32 HP:0001249
8 macroglossia 32 frequent (33%) HP:0000158
9 splenomegaly 32 HP:0001744
10 hepatomegaly 32 HP:0002240
11 depressed nasal bridge 32 hallmark (90%) HP:0005280
12 short stature 32 HP:0004322
13 laryngomalacia 32 occasional (7.5%) HP:0001601
14 brachycephaly 32 hallmark (90%) HP:0000248
15 cleft palate 32 frequent (33%) HP:0000175
16 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
17 narrow chest 32 hallmark (90%) HP:0000774
18 micromelia 32 hallmark (90%) HP:0002983
19 short long bone 32 HP:0003026
20 dolichocephaly 32 hallmark (90%) HP:0000268
21 abnormal form of the vertebral bodies 32 frequent (33%) HP:0003312
22 short thorax 32 hallmark (90%) HP:0010306
23 glucose intolerance 32 occasional (7.5%) HP:0000833
24 hepatic fibrosis 32 HP:0001395
25 hypoplastic left heart 32 hallmark (90%) HP:0004383
26 renal hypoplasia/aplasia 32 occasional (7.5%) HP:0008678
27 nyctalopia 32 occasional (7.5%) HP:0000662
28 ventriculomegaly 32 occasional (7.5%) HP:0002119
29 cerebral cortical atrophy 32 frequent (33%) HP:0002120
30 non-midline cleft lip 32 hallmark (90%) HP:0100335
31 depressed nasal ridge 32 hallmark (90%) HP:0000457
32 rhizomelia 32 hallmark (90%) HP:0008905
33 abnormality of the antihelix 32 frequent (33%) HP:0009738
34 multicystic kidney dysplasia 32 occasional (7.5%) HP:0000003
35 abnormality of the pancreas 32 occasional (7.5%) HP:0001732
36 low-set, posteriorly rotated ears 32 hallmark (90%) HP:0000368
37 open mouth 32 frequent (33%) HP:0000194
38 brachydactyly 32 hallmark (90%) HP:0001156
39 bilateral single transverse palmar creases 32 frequent (33%) HP:0007598
40 round face 32 hallmark (90%) HP:0000311
41 polyhydramnios 32 frequent (33%) HP:0001561
42 ventricular septal defect 32 occasional (7.5%) HP:0001629
43 intestinal malrotation 32 frequent (33%) HP:0002566
44 cholestasis 32 HP:0001396
45 abnormality of the ribs 32 hallmark (90%) HP:0000772
46 abnormality of pelvic girdle bone morphology 32 frequent (33%) HP:0002644
47 hepatic failure 32 HP:0001399
48 male pseudohermaphroditism 32 occasional (7.5%) HP:0000037
49 preaxial hand polydactyly 32 hallmark (90%) HP:0001177
50 abnormality of the clavicle 32 frequent (33%) HP:0000889

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:

41
Bone, Kidney, Liver, Heart, Pancreas, Brain, Eye

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 96)
# Title Authors Year
1
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 aA fetus. ( 29458881 )
2018
2
Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome. ( 29241935 )
2017
3
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. ( 28400947 )
2017
4
Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. ( 27323140 )
2016
5
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. ( 27666822 )
2016
6
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. ( 27466190 )
2016
7
Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome. ( 26970085 )
2016
8
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. ( 27466187 )
2016
9
A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome. ( 26078906 )
2015
10
Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III. ( 25982780 )
2015
11
Autopsy observations in lethal short-rib polydactyly syndromes. ( 25437139 )
2015
12
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. ( 26166481 )
2015
13
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. ( 25830415 )
2015
14
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. ( 26077881 )
2015
15
Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. ( 24854045 )
2014
16
Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype. ( 25410398 )
2014
17
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-I_B pathway in cilia. ( 24183449 )
2013
18
Recurrent short rib polydactyly syndrome. ( 23259870 )
2013
19
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. ( 22795106 )
2012
20
A short rib polydactyly syndrome overlapping both lethal and nonlethal types. ( 22876582 )
2012
21
Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene. ( 22482978 )
2012
22
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. ( 21473986 )
2011
23
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. ( 21227999 )
2011
24
NEK1 mutations cause short-rib polydactyly syndrome type majewski. ( 21211617 )
2011
25
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. ( 21159031 )
2011
26
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). ( 20607029 )
2010
27
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. ( 19442771 )
2009
28
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. ( 19361615 )
2009
29
Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. ( 19475553 )
2009
30
Short rib polydactyly syndrome - type 2 (Majewski). ( 18057685 )
2007
31
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. ( 17935248 )
2007
32
Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. ( 16479085 )
2006
33
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. ( 17058284 )
2006
34
Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family. ( 16912486 )
2006
35
Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. ( 16619378 )
2006
36
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. ( 16719409 )
2006
37
Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). ( 16113563 )
2005
38
Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia. ( 15906413 )
2005
39
Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). ( 15876604 )
2005
40
Short rib-polydactyly syndrome. ( 15605271 )
2005
41
Short rib polydactyly syndrome-Type I. ( 15107523 )
2004
42
Short rib-polydactyly syndrome type I associated with a single umbilical artery. ( 15083709 )
2004
43
Short rib-polydactyly syndrome: a case report. ( 14768808 )
2003
44
Second-trimester sonographic detection of short rib-polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result. ( 12673646 )
2003
45
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. ( 12921311 )
2003
46
Diagnostic dilemmas in the short rib-polydactyly syndrome group. ( 12210298 )
2002
47
Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report. ( 11851975 )
2002
48
Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. ( 11815874 )
2002
49
Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk. ( 12047549 )
2002
50
Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome. ( 11200995 )
2001

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

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

75
# 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

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

6
(show top 50) (show all 690)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT172 NM_015662.2(IFT172): c.5179T> C (p.Cys1727Arg) single nucleotide variant Pathogenic rs149614625 GRCh37 Chromosome 2, 27667370: 27667370
2 IFT172 NM_015662.2(IFT172): c.5179T> C (p.Cys1727Arg) single nucleotide variant Pathogenic rs149614625 GRCh38 Chromosome 2, 27444503: 27444503
3 IFT172 NM_015662.2(IFT172): c.4925_4928delGAGA (p.Arg1642Lysfs) deletion Pathogenic rs587777078 GRCh37 Chromosome 2, 27668303: 27668306
4 IFT172 NM_015662.2(IFT172): c.4925_4928delGAGA (p.Arg1642Lysfs) deletion Pathogenic rs587777078 GRCh38 Chromosome 2, 27445436: 27445439
5 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh37 Chromosome 2, 27670411: 27670411
6 IFT172 NM_015662.2(IFT172): c.4630C> T (p.Arg1544Cys) single nucleotide variant Pathogenic rs587777079 GRCh38 Chromosome 2, 27447544: 27447544
7 IFT172 NM_015662.2(IFT172): c.4607T> C (p.Leu1536Pro) single nucleotide variant Pathogenic rs587777080 GRCh37 Chromosome 2, 27670434: 27670434
8 IFT172 NM_015662.2(IFT172): c.4607T> C (p.Leu1536Pro) single nucleotide variant Pathogenic rs587777080 GRCh38 Chromosome 2, 27447567: 27447567
9 IFT172 NM_015662.2(IFT172): c.2716C> T (p.Gln906Ter) single nucleotide variant Pathogenic rs587777081 GRCh37 Chromosome 2, 27682316: 27682316
10 IFT172 NM_015662.2(IFT172): c.2716C> T (p.Gln906Ter) single nucleotide variant Pathogenic rs587777081 GRCh38 Chromosome 2, 27459449: 27459449
11 IFT172 NM_015662.2(IFT172): c.3228+1G> A single nucleotide variant Pathogenic rs587777082 GRCh37 Chromosome 2, 27680505: 27680505
12 IFT172 NM_015662.2(IFT172): c.3228+1G> A single nucleotide variant Pathogenic rs587777082 GRCh38 Chromosome 2, 27457638: 27457638
13 IFT172 NM_015662.2(IFT172): c.886C> T (p.Arg296Trp) single nucleotide variant Pathogenic rs145541911 GRCh37 Chromosome 2, 27702916: 27702916
14 IFT172 NM_015662.2(IFT172): c.886C> T (p.Arg296Trp) single nucleotide variant Pathogenic rs145541911 GRCh38 Chromosome 2, 27480049: 27480049
15 IFT172 NM_015662.2(IFT172): c.1390_1395delGATATT (p.Asp464_Ile465del) deletion Pathogenic rs587777084 GRCh37 Chromosome 2, 27699524: 27699529
16 IFT172 NM_015662.2(IFT172): c.1390_1395delGATATT (p.Asp464_Ile465del) deletion Pathogenic rs587777084 GRCh38 Chromosome 2, 27476657: 27476662
17 IFT172 NM_015662.2(IFT172): c.1232T> A (p.Ile411Asn) single nucleotide variant Pathogenic rs587777085 GRCh37 Chromosome 2, 27700177: 27700177
18 IFT172 NM_015662.2(IFT172): c.1232T> A (p.Ile411Asn) single nucleotide variant Pathogenic rs587777085 GRCh38 Chromosome 2, 27477310: 27477310
19 IFT172 NM_015662.2(IFT172): c.2158delC (p.Arg720Valfs) deletion Pathogenic rs587777086 GRCh37 Chromosome 2, 27684661: 27684661
20 IFT172 NM_015662.2(IFT172): c.2158delC (p.Arg720Valfs) deletion Pathogenic rs587777086 GRCh38 Chromosome 2, 27461794: 27461794
21 WDR35 NM_001006657.1(WDR35): c.2948A> G (p.Glu983Gly) single nucleotide variant Benign rs1191778 GRCh37 Chromosome 2, 20131079: 20131079
22 WDR35 NM_001006657.1(WDR35): c.2948A> G (p.Glu983Gly) single nucleotide variant Benign rs1191778 GRCh38 Chromosome 2, 19931318: 19931318
23 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh37 Chromosome 11, 103046984: 103046984
24 DYNC2H1 NM_001080463.1(DYNC2H1): c.5695G> A (p.Val1899Ile) single nucleotide variant Uncertain significance rs150887098 GRCh38 Chromosome 11, 103176255: 103176255
25 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh37 Chromosome 11, 103047007: 103047007
26 DYNC2H1 NM_001080463.1(DYNC2H1): c.5718C> A (p.Thr1906=) single nucleotide variant Benign rs585692 GRCh38 Chromosome 11, 103176278: 103176278
27 WDR35 NM_001006657.1(WDR35): c.2857-14G> T single nucleotide variant Benign rs1191779 GRCh37 Chromosome 2, 20131184: 20131184
28 WDR35 NM_001006657.1(WDR35): c.2857-14G> T single nucleotide variant Benign rs1191779 GRCh38 Chromosome 2, 19931423: 19931423
29 WDR35 NM_001006657.1(WDR35): c.1215A> G (p.Thr405=) single nucleotide variant Uncertain significance rs144673252 GRCh37 Chromosome 2, 20162068: 20162068
30 WDR35 NM_001006657.1(WDR35): c.1215A> G (p.Thr405=) single nucleotide variant Uncertain significance rs144673252 GRCh38 Chromosome 2, 19962307: 19962307
31 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh37 Chromosome 11, 103019260: 103019260
32 DYNC2H1 NM_001080463.1(DYNC2H1): c.2860G> A (p.Glu954Lys) single nucleotide variant Benign/Likely benign rs61898615 GRCh38 Chromosome 11, 103148531: 103148531
33 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh37 Chromosome 11, 102980336: 102980336
34 DYNC2H1 NM_001080463.1(DYNC2H1): c.33C> T (p.Leu11=) single nucleotide variant Uncertain significance rs373977008 GRCh38 Chromosome 11, 103109607: 103109607
35 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh37 Chromosome 11, 103004335: 103004335
36 DYNC2H1 NM_001080463.1(DYNC2H1): c.2005A> G (p.Lys669Glu) single nucleotide variant Uncertain significance rs189533535 GRCh38 Chromosome 11, 103133606: 103133606
37 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
38 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
39 WDR35 NM_001006657.1(WDR35): c.2810A> G (p.Tyr937Cys) single nucleotide variant Uncertain significance rs75602337 GRCh37 Chromosome 2, 20132090: 20132090
40 WDR35 NM_001006657.1(WDR35): c.2810A> G (p.Tyr937Cys) single nucleotide variant Uncertain significance rs75602337 GRCh38 Chromosome 2, 19932329: 19932329
41 DYNC2H1 NM_001080463.1(DYNC2H1): c.4238A> G (p.Lys1413Arg) single nucleotide variant Benign rs688906 GRCh37 Chromosome 11, 103029516: 103029516
42 DYNC2H1 NM_001080463.1(DYNC2H1): c.4238A> G (p.Lys1413Arg) single nucleotide variant Benign rs688906 GRCh38 Chromosome 11, 103158787: 103158787
43 DYNC2H1 NM_001080463.1(DYNC2H1): c.4192A> C (p.Arg1398=) single nucleotide variant Uncertain significance rs371259464 GRCh37 Chromosome 11, 103029470: 103029470
44 DYNC2H1 NM_001080463.1(DYNC2H1): c.4192A> C (p.Arg1398=) single nucleotide variant Uncertain significance rs371259464 GRCh38 Chromosome 11, 103158741: 103158741
45 DYNC2H1 NM_001080463.1(DYNC2H1): c.9749A> G (p.Gln3250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140830294 GRCh37 Chromosome 11, 103107198: 103107198
46 DYNC2H1 NM_001080463.1(DYNC2H1): c.9749A> G (p.Gln3250Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140830294 GRCh38 Chromosome 11, 103236469: 103236469
47 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
48 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
49 DYNC2H1 NM_001080463.1(DYNC2H1): c.12103G> T (p.Gly4035Cys) single nucleotide variant Uncertain significance rs202216852 GRCh37 Chromosome 11, 103229013: 103229013
50 DYNC2H1 NM_001080463.1(DYNC2H1): c.12103G> T (p.Gly4035Cys) single nucleotide variant Uncertain significance rs202216852 GRCh38 Chromosome 11, 103358285: 103358285

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

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

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