SRTD9
MCID: SHR075
MIFTS: 48

Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly (SRTD9)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 58 12 76 15
Mainzer-Saldino Syndrome 58 26 76 13 41
Conorenal Syndrome 58 54 26 60 76
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 12 54 30 6
Srtd9 58 12 26 76
Saldino-Mainzer Syndrome 54 26 60
Mainzer-Saldino Disease 26 76 74
Mzsds 58 26 76
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia 58 26
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome 60
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia and Skeletal Dysplasia 76
Mainzer-Saldino Chondrodysplasia 26
Mainzer-Saldino Syndrome; Mzsds 58
Short-Rib Thoracic Dysplasia 9 26
Saldino-Mainzer Dysplasia 26
Mainzer Saldino Syndrome 54
Conorenal Dysplasia 26
Mss 76

Characteristics:

Orphanet epidemiological data:

60
saldino-mainzer syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable manifestations


HPO:

33
short-rib thoracic dysplasia 9 with or without polydactyly:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

OMIM : 58 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). (266920)

MalaCards based summary : Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly, also known as mainzer-saldino syndrome, is related to short-rib thoracic dysplasia 1 with or without polydactyly and retinitis pigmentosa, and has symptoms including cerebellar ataxia and unspecified visual loss. An important gene associated with Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly is IFT140 (Intraflagellar Transport 140), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include kidney, eye and bone, and related phenotypes are hepatomegaly and cholestasis

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

Genetics Home Reference : 26 Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140969Disease definitionSaldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.EpidemiologyAround 10 cases have been described in the literature so far.Clinical descriptionMild to moderate short stature has also been reported. Radiologic studies reveal shortened phalanges with cone-shaped epiphysis. Femoral epiphyseal and metaphyseal anomalies are common.Genetic counselingThe syndrome is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 Short-rib thoracic dysplasia 9 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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.

Related Diseases for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 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 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 9 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 31.6 IFT140 IFT172
2 retinitis pigmentosa 29.3 IFT140 IFT172 IFT88
3 marinesco-sjogren syndrome 12.1
4 short-rib thoracic dysplasia 6 with or without polydactyly 11.5
5 short-rib thoracic dysplasia 12 11.5
6 short-rib thoracic dysplasia 2 with or without polydactyly 11.5
7 short-rib thoracic dysplasia 3 with or without polydactyly 11.5
8 short-rib thoracic dysplasia 4 with or without polydactyly 11.5
9 short-rib thoracic dysplasia 7 with or without polydactyly 11.5
10 short-rib thoracic dysplasia 5 with or without polydactyly 11.5
11 short-rib thoracic dysplasia 8 with or without polydactyly 11.5
12 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
13 short-rib thoracic dysplasia 11 with or without polydactyly 11.5
14 short-rib thoracic dysplasia 14 with polydactyly 11.5
15 short-rib thoracic dysplasia 15 with polydactyly 11.5
16 short-rib thoracic dysplasia 16 with or without polydactyly 11.5
17 short-rib thoracic dysplasia 17 with or without polydactyly 11.5
18 short-rib thoracic dysplasia 18 with polydactyly 11.5
19 short-rib thoracic dysplasia 19 with or without polydactyly 11.5
20 short-rib thoracic dysplasia 20 with polydactyly 11.5
21 mesomelia-synostoses syndrome 11.4
22 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
23 marshall-smith syndrome 11.1
24 multiple synostoses syndrome 1 11.1
25 congenital cataracts, facial dysmorphism, and neuropathy 11.1
26 nephronophthisis 10.5
27 colorectal cancer 10.5
28 leber congenital amaurosis 4 10.4
29 retinitis pigmentosa 80 10.4
30 retinitis 10.4
31 juvenile nephronophthisis 10.4
32 basal cell carcinoma 1 10.1
33 basal cell carcinoma 10.1
34 adenocarcinoma 10.1
35 fascioliasis 10.1
36 cleft lip/palate 9.6 IFT140 IFT172
37 joubert syndrome 1 9.4 IFT140 IFT172 IFT88

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

33 (show all 33)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 33 frequent (33%) HP:0002240
2 cholestasis 33 frequent (33%) HP:0001396
3 microcephaly 33 occasional (7.5%) HP:0000252
4 cognitive impairment 33 occasional (7.5%) HP:0100543
5 craniosynostosis 33 occasional (7.5%) HP:0001363
6 short ribs 33 occasional (7.5%) HP:0000773
7 bifid uvula 33 very rare (1%) HP:0000193
8 frontal bossing 33 HP:0002007
9 high palate 33 HP:0000218
10 nystagmus 33 HP:0000639
11 ataxia 33 HP:0001251
12 macroglossia 33 HP:0000158
13 widely spaced teeth 33 HP:0000687
14 short stature 33 HP:0004322
15 nephropathy 33 HP:0000112
16 prominent forehead 33 HP:0011220
17 anemia 33 HP:0001903
18 cone-shaped epiphysis 33 HP:0010579
19 microdontia 33 HP:0000691
20 hepatic fibrosis 33 HP:0001395
21 wide mouth 33 HP:0000154
22 trigonocephaly 33 HP:0000243
23 visual loss 33 HP:0000572
24 rod-cone dystrophy 33 HP:0000510
25 nephronophthisis 33 HP:0000090
26 renal cyst 33 HP:0000107
27 short phalanx of finger 33 HP:0009803
28 stage 5 chronic kidney disease 33 HP:0003774
29 renal dysplasia 33 HP:0000110
30 short femoral neck 33 HP:0100864
31 narrow forehead 33 HP:0000341
32 hypoplasia of the capital femoral epiphysis 33 HP:0003090
33 scaphocephaly 33 HP:0030799

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
prominent forehead
bitemporal narrowing

Head And Neck Mouth:
macroglossia
high-arched palate
macrostomia
bifid uvula (rare)
multiple oral frenulae
more
Growth Height:
short stature

Genitourinary Kidneys:
nephronophthisis
renal cysts
chronic renal failure
sclerosing glomerulonephropathy

Skeletal Hands:
short fingers
cone-shaped epiphyses (proximal and middle phalanges)

Skeletal Feet:
cone-shaped epiphyses (phalanges)

Chest External Features:
small thoracic cavity (in some patients)

Neurologic Central Nervous System:
cerebellar ataxia (rare)
cognitive defects (in some patients)

Head And Neck Eyes:
nystagmus
visual loss
retinitis pigmentosa

Head And Neck Teeth:
widely spaced teeth
small teeth
square teeth

Head And Neck Head:
trigonocephaly
scaphocephaly
microcephaly (in some patients)

Skeletal Limbs:
short femoral neck
flattened femoral epiphyses
small femoral capital epiphyses
metaphyseal defects (in some patients)

Skeletal Skull:
craniosynostosis (in some patients)

Abdomen Liver:
hepatic fibrosis (less common)
hepatomegaly (less common)
cholestasis (less common)

Chest Ribs Sternum Clavicles And Scapulae:
short ribs (in some patients)

Clinical features from OMIM:

266920

UMLS symptoms related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:


cerebellar ataxia, unspecified visual loss

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.61 IFT140 IFT172 IFT88
2 digestive/alimentary MP:0005381 9.58 IFT140 IFT172 IFT88
3 embryo MP:0005380 9.54 IFT140 IFT172 IFT88
4 limbs/digits/tail MP:0005371 9.5 IFT140 IFT172 IFT88
5 renal/urinary system MP:0005367 9.43 IFT140 IFT172 IFT88
6 respiratory system MP:0005388 9.33 IFT140 IFT172 IFT88
7 skeleton MP:0005390 9.13 IFT140 IFT172 IFT88
8 vision/eye MP:0005391 8.8 IFT140 IFT172 IFT88

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 30 IFT140

Anatomical Context for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

42
Kidney, Eye, Bone, Brain, Heart, Pancreas, Liver

Publications for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

# Title Authors Year
1
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. ( 30479745 )
2018
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. ( 28724397 )
2017
3
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. ( 28288023 )
2017
4
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. ( 26968735 )
2016
5
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. ( 26359340 )
2016
6
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. ( 24698627 )
2014
7
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. ( 23418020 )
2013
8
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. ( 22503633 )
2012

Variations for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

76
# Symbol AA change Variation ID SNP ID
1 IFT140 p.Gly212Arg VAR_068523 rs201188361
2 IFT140 p.Ile233Met VAR_068524
3 IFT140 p.Val292Met VAR_068525 rs431905521
4 IFT140 p.Tyr311Cys VAR_068526 rs387907193
5 IFT140 p.Gly522Glu VAR_068527 rs199826737
6 IFT140 p.Arg576Gln VAR_068528 rs373111085
7 IFT140 p.Leu152Phe VAR_071000 rs140366920
8 IFT140 p.Glu267Gly VAR_071003
9 IFT140 p.Cys1360Arg VAR_071008 rs431905520
10 IFT140 p.Arg280Trp VAR_078817 rs8058674

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly:

6 (show top 50) (show all 311)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh37 Chromosome 16, 1614075: 1614075
2 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh38 Chromosome 16, 1564074: 1564074
3 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh37 Chromosome 16, 1607935: 1607935
4 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh38 Chromosome 16, 1557934: 1557934
5 IFT140 NM_014714.3(IFT140): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs387907193 GRCh37 Chromosome 16, 1637276: 1637276
6 IFT140 NM_014714.3(IFT140): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs387907193 GRCh38 Chromosome 16, 1587275: 1587275
7 IFT140 NM_014714.3(IFT140): c.857_860del4 (p.Ile286Lysfs) deletion Pathogenic rs431905506 GRCh37 Chromosome 16, 1637976: 1637979
8 IFT140 NM_014714.3(IFT140): c.857_860del4 (p.Ile286Lysfs) deletion Pathogenic rs431905506 GRCh38 Chromosome 16, 1587975: 1587978
9 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh37 Chromosome 16, 1642177: 1642177
10 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh38 Chromosome 16, 1592176: 1592176
11 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh38 Chromosome 16, 1520005: 1520005
12 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh37 Chromosome 16, 1570006: 1570006
13 IFT140 NM_014714.3(IFT140): c.4078T> C (p.Cys1360Arg) single nucleotide variant Pathogenic rs431905520 GRCh37 Chromosome 16, 1568321: 1568321
14 IFT140 NM_014714.3(IFT140): c.4078T> C (p.Cys1360Arg) single nucleotide variant Pathogenic rs431905520 GRCh38 Chromosome 16, 1518320: 1518320
15 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
16 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh38 Chromosome 16, 1587961: 1587961
17 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
18 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh38 Chromosome 16, 1571494: 1571494
19 IFT140 NM_014714.3(IFT140): c.1192G> A (p.Val398Ile) single nucleotide variant Likely benign rs34762152 GRCh37 Chromosome 16, 1634385: 1634385
20 IFT140 NM_014714.3(IFT140): c.1192G> A (p.Val398Ile) single nucleotide variant Likely benign rs34762152 GRCh38 Chromosome 16, 1584384: 1584384
21 IFT140 NM_014714.3(IFT140): c.1968T> C (p.Ser656=) single nucleotide variant Benign rs8048410 GRCh37 Chromosome 16, 1614097: 1614097
22 IFT140 NM_014714.3(IFT140): c.1968T> C (p.Ser656=) single nucleotide variant Benign rs8048410 GRCh38 Chromosome 16, 1564096: 1564096
23 IFT140 NM_014714.3(IFT140): c.2253T> C (p.Pro751=) single nucleotide variant Benign rs2076436 GRCh37 Chromosome 16, 1608082: 1608082
24 IFT140 NM_014714.3(IFT140): c.2253T> C (p.Pro751=) single nucleotide variant Benign rs2076436 GRCh38 Chromosome 16, 1558081: 1558081
25 IFT140 NM_014714.3(IFT140): c.2919C> T (p.Ala973=) single nucleotide variant Benign rs2235640 GRCh37 Chromosome 16, 1574863: 1574863
26 IFT140 NM_014714.3(IFT140): c.2919C> T (p.Ala973=) single nucleotide variant Benign rs2235640 GRCh38 Chromosome 16, 1524862: 1524862
27 IFT140 NM_014714.3(IFT140): c.3209C> T (p.Ala1070Val) single nucleotide variant Benign rs2235638 GRCh37 Chromosome 16, 1573890: 1573890
28 IFT140 NM_014714.3(IFT140): c.3209C> T (p.Ala1070Val) single nucleotide variant Benign rs2235638 GRCh38 Chromosome 16, 1523889: 1523889
29 IFT140 NM_014714.3(IFT140): c.836G> C (p.Arg279Pro) single nucleotide variant Benign/Likely benign rs4786350 GRCh37 Chromosome 16, 1638000: 1638000
30 IFT140 NM_014714.3(IFT140): c.836G> C (p.Arg279Pro) single nucleotide variant Benign/Likely benign rs4786350 GRCh38 Chromosome 16, 1587999: 1587999
31 IFT140 NM_014714.3(IFT140): c.1336A> G (p.Ile446Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139619013 GRCh37 Chromosome 16, 1634241: 1634241
32 IFT140 NM_014714.3(IFT140): c.1336A> G (p.Ile446Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139619013 GRCh38 Chromosome 16, 1584240: 1584240
33 IFT140 NM_014714.3(IFT140): c.4040+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138364426 GRCh37 Chromosome 16, 1569872: 1569872
34 IFT140 NM_014714.3(IFT140): c.4040+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138364426 GRCh38 Chromosome 16, 1519871: 1519871
35 IFT140 NM_014714.3(IFT140): c.3988G> A (p.Ala1330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200699325 GRCh37 Chromosome 16, 1569934: 1569934
36 IFT140 NM_014714.3(IFT140): c.3988G> A (p.Ala1330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200699325 GRCh38 Chromosome 16, 1519933: 1519933
37 IFT140 NM_014714.3(IFT140): c.1167delG (p.Lys390Argfs) deletion Likely pathogenic rs1085307074 GRCh38 Chromosome 16, 1584409: 1584409
38 IFT140 NM_014714.3(IFT140): c.1167delG (p.Lys390Argfs) deletion Likely pathogenic rs1085307074 GRCh37 Chromosome 16, 1634410: 1634410
39 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh38 Chromosome 16, 1519961: 1519966
40 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh37 Chromosome 16, 1569962: 1569967
41 IFT140 NM_014714.3(IFT140): c.*2G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144879630 GRCh37 Chromosome 16, 1560943: 1560943
42 IFT140 NM_014714.3(IFT140): c.*2G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144879630 GRCh38 Chromosome 16, 1510942: 1510942
43 IFT140 NM_014714.3(IFT140): c.758G> A (p.Arg253Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141993139 GRCh37 Chromosome 16, 1639658: 1639658
44 IFT140 NM_014714.3(IFT140): c.758G> A (p.Arg253Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141993139 GRCh38 Chromosome 16, 1589657: 1589657
45 IFT140 NM_014714.3(IFT140): c.2542C> T (p.Arg848Cys) single nucleotide variant Uncertain significance rs201384469 GRCh37 Chromosome 16, 1576655: 1576655
46 IFT140 NM_014714.3(IFT140): c.2542C> T (p.Arg848Cys) single nucleotide variant Uncertain significance rs201384469 GRCh38 Chromosome 16, 1526654: 1526654
47 IFT140 NM_014714.3(IFT140): c.1542C> A (p.Leu514=) single nucleotide variant Conflicting interpretations of pathogenicity rs141542834 GRCh37 Chromosome 16, 1621518: 1621518
48 IFT140 NM_014714.3(IFT140): c.1542C> A (p.Leu514=) single nucleotide variant Conflicting interpretations of pathogenicity rs141542834 GRCh38 Chromosome 16, 1571517: 1571517
49 IFT140 NM_014714.3(IFT140): c.1541T> A (p.Leu514His) single nucleotide variant Conflicting interpretations of pathogenicity rs150903791 GRCh37 Chromosome 16, 1621519: 1621519
50 IFT140 NM_014714.3(IFT140): c.1541T> A (p.Leu514His) single nucleotide variant Conflicting interpretations of pathogenicity rs150903791 GRCh38 Chromosome 16, 1571518: 1571518

Expression for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.06 IFT140 IFT172 IFT88
2
Show member pathways
11.67 IFT140 IFT172 IFT88
3
Show member pathways
11.37 IFT172 IFT88
4 10.41 IFT140 IFT172 IFT88

GO Terms for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.58 IFT140 IFT172 IFT88
2 centrosome GO:0005813 9.43 IFT140 IFT88
3 cilium GO:0005929 9.43 IFT140 IFT172 IFT88
4 axoneme GO:0005930 9.37 IFT140 IFT172
5 non-motile cilium GO:0097730 9.32 IFT140 IFT88
6 intraciliary transport particle B GO:0030992 9.16 IFT172 IFT88
7 ciliary basal body GO:0036064 9.13 IFT140 IFT172 IFT88
8 ciliary tip GO:0097542 8.8 IFT140 IFT172 IFT88

Biological processes related to Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.43 IFT140 IFT172
2 cell projection organization GO:0030030 9.4 IFT140 IFT88
3 determination of left/right symmetry GO:0007368 9.37 IFT140 IFT172
4 cilium assembly GO:0060271 9.33 IFT140 IFT172 IFT88
5 regulation of cilium assembly GO:1902017 9.32 IFT140 IFT88
6 regulation of smoothened signaling pathway GO:0008589 9.26 IFT140 IFT172
7 non-motile cilium assembly GO:1905515 9.13 IFT140 IFT172 IFT88
8 intraciliary transport involved in cilium assembly GO:0035735 8.8 IFT140 IFT172 IFT88

Sources for Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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