SRTD9
MCID: SHR075
MIFTS: 49

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 57 12 74 15
Mainzer-Saldino Syndrome 57 25 74 13 40
Conorenal Syndrome 57 53 25 59 74
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 12 53 29 6
Srtd9 57 12 25 74
Saldino-Mainzer Syndrome 53 25 59
Mainzer-Saldino Disease 25 74 72
Mzsds 57 25 74
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia 57 25
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome 59
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia and Skeletal Dysplasia 74
Mainzer-Saldino Chondrodysplasia 25
Mainzer-Saldino Syndrome; Mzsds 57
Short-Rib Thoracic Dysplasia 9 25
Saldino-Mainzer Dysplasia 25
Mainzer Saldino Syndrome 53
Conorenal Dysplasia 25
Mss 74

Characteristics:

Orphanet epidemiological data:

59
saldino-mainzer syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable manifestations


HPO:

32
short-rib thoracic dysplasia 9 with or without polydactyly:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110097
ICD10 33 Q87.5
MESH via Orphanet 45 C535463
ICD10 via Orphanet 34 Q87.5
UMLS via Orphanet 73 C1849437
Orphanet 59 ORPHA140969
MedGen 42 C1849437
UMLS 72 C1849437

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

Genetics Home Reference : 25 Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. People with Mainzer-Saldino syndrome have chronic kidney disease that begins in childhood and gets worse over time. The rate at which the kidney disease worsens is variable, but the condition eventually leads to kidney failure in most affected individuals. Degeneration of the light-sensitive tissue at the back of the eye (the retina) almost always occurs in this disorder, but the age at which this feature develops varies. Some affected individuals are blind or have severe vision impairment beginning in infancy, with the pattern of vision loss resembling a condition called Leber congenital amaurosis. In other people with Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some vision is retained into early adulthood. The vision loss in these affected individuals resembles a category of retinal disorders called rod-cone dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as such. However, the abnormal deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in Mainzer-Saldino syndrome. As a result, some researchers use terms such as "atypical retinitis pigmentosa without pigment" to describe the retinal degeneration that occurs in Mainzer-Saldino syndrome. The skeletal abnormality most characteristic of Mainzer-Saldino syndrome consists of cone-shaped ends of the bones (epiphyses) in the fingers (phalanges) that can be seen on x-ray images after the first year of life. Affected individuals may also have abnormalities of the thigh bones that occur in the epiphyses and adjacent areas where bone growth occurs (the metaphyses). Occasionally, other skeletal abnormalities occur, including short stature and premature fusion of certain skull bones (craniosynostosis) that affects the shape of the head and face. Affected individuals may also have a small rib cage, which sometimes causes breathing problems in infancy, but the breathing problems are usually mild. A small number of individuals with this disorder have additional problems affecting other organs. These can include liver disease resulting in a buildup of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is difficulty with coordination and balance arising from problems with a part of the brain called the cerebellum; and mild intellectual disability.

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 joubert syndrome 1, 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 liver, kidney 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140969DefinitionSaldino-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 recessive trait.Visit the Orphanet disease page for more resources.

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). (266920)

UniProtKB/Swiss-Prot : 74 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 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 9 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 31.4 IFT172 IFT140
2 joubert syndrome 1 29.2 IFT88 IFT172 IFT140
3 retinitis pigmentosa 28.5 IFT88 IFT172 IFT140
4 marinesco-sjogren syndrome 12.2
5 marshall-smith syndrome 11.9
6 short-rib thoracic dysplasia 6 with or without polydactyly 11.6
7 short-rib thoracic dysplasia 12 11.6
8 short-rib thoracic dysplasia 2 with or without polydactyly 11.6
9 short-rib thoracic dysplasia 3 with or without polydactyly 11.6
10 short-rib thoracic dysplasia 4 with or without polydactyly 11.6
11 short-rib thoracic dysplasia 7 with or without polydactyly 11.6
12 short-rib thoracic dysplasia 5 with or without polydactyly 11.6
13 short-rib thoracic dysplasia 8 with or without polydactyly 11.6
14 short-rib thoracic dysplasia 10 with or without polydactyly 11.6
15 short-rib thoracic dysplasia 11 with or without polydactyly 11.6
16 short-rib thoracic dysplasia 14 with polydactyly 11.6
17 short-rib thoracic dysplasia 15 with polydactyly 11.6
18 short-rib thoracic dysplasia 16 with or without polydactyly 11.6
19 short-rib thoracic dysplasia 17 with or without polydactyly 11.6
20 short-rib thoracic dysplasia 18 with polydactyly 11.6
21 short-rib thoracic dysplasia 19 with or without polydactyly 11.6
22 short-rib thoracic dysplasia 20 with polydactyly 11.6
23 mesomelia-synostoses syndrome 11.5
24 short-rib thoracic dysplasia 13 with or without polydactyly 11.5
25 multiple synostoses syndrome 1 11.2
26 congenital cataracts, facial dysmorphism, and neuropathy 11.2
27 ciliopathy 10.7
28 cranioectodermal dysplasia 1 10.5
29 nephronophthisis 10.5
30 colorectal cancer 10.4
31 yemenite deaf-blind hypopigmentation syndrome 10.4
32 retinitis pigmentosa 80 10.4
33 asphyxiating thoracic dystrophy 10.4
34 neuroretinitis 10.4
35 leber congenital amaurosis 10.4
36 retinitis 10.4
37 fundus dystrophy 10.4
38 inherited retinal disorder 10.4
39 juvenile nephronophthisis 10.4
40 adenocarcinoma 10.2
41 lynch syndrome 10.2
42 peripheral dysostosis 10.1
43 senior-loken syndrome 1 10.1
44 dysostosis 10.1
45 kidney disease 10.1
46 chronic kidney disease 10.1
47 dwarfism 10.1
48 juvenile polyposis syndrome 10.0
49 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0
50 ataxia and polyneuropathy, adult-onset 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
prominent forehead
bitemporal narrowing

Head And Neck Mouth:
macroglossia
high-arched palate
macrostomia
bifid uvula (rare)
multiple oral frenula
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:

46
# 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 29 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:

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

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

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

(show all 17)
# Title Authors PMID Year
1
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 8 71
28288023 2017
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 8 71
28724397 2017
3
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 8 71
23418020 2013
4
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 8 71
22503633 2012
5
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 8
27874174 2017
6
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 71
26359340 2016
7
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 71
26968735 2016
8
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. 71
24698627 2014
9
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 8
24183451 2013
10
Ciliary disorder of the skeleton. 8
22791528 2012
11
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. 8
17853467 2007
12
Hereditary sclerosing glomerulopathy in the conorenal syndrome. 8
7747734 1995
13
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes. 8
431989 1979
14
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. 8
1008584 1976
15
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. 8
1008585 1976
16
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. 8
4991086 1970
17
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. 38
30479745 2018

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

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

6 (show top 50) (show all 159)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140): c.2278C> T (p.Arg760Ter) single nucleotide variant Pathogenic rs1555486629 16:1608057-1608057 16:1558056-1558056
2 IFT140 NM_014714.3(IFT140): c.(?_-1)_(147+1_148-1)del deletion Pathogenic 16:1652593-1657268 16:1602592-1607267
3 IFT140 NM_014714.3(IFT140): c.3454-488_4182+2588dup duplication Pathogenic 16:1565629-1571297 16:1515628-1521296
4 IFT140 NM_014714.4(IFT140): c.3454-1003_4040+737delinsC indel Pathogenic 16:1569145-1571814 16:1519144-1521813
5 IFT140 NM_014714.4(IFT140): c.3141+1G> T single nucleotide variant Pathogenic rs764770536 16:1574552-1574552 16:1524551-1524551
6 IFT140 NM_014714.4(IFT140): c.2577+25G> A single nucleotide variant Pathogenic rs1423102192 16:1576595-1576595 16:1526594-1526594
7 IFT140 NM_014714.4(IFT140): c.2177C> T (p.Pro726Leu) single nucleotide variant Pathogenic rs1417500285 16:1612008-1612008 16:1562007-1562007
8 IFT140 NM_014714.4(IFT140): c.1319T> C (p.Leu440Pro) single nucleotide variant Pathogenic rs1555491448 16:1634258-1634258 16:1584257-1584257
9 IFT140 NM_014714.4(IFT140): c.454C> T (p.Leu152Phe) single nucleotide variant Pathogenic rs1403669200 16:1642505-1642505 16:1592504-1592504
10 IFT140 NM_014714.4(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 16:1614075-1614075 16:1564074-1564074
11 IFT140 NM_014714.4(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 16:1607935-1607935 16:1557934-1557934
12 IFT140 NM_014714.4(IFT140): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs387907193 16:1637276-1637276 16:1587275-1587275
13 IFT140 NM_014714.4(IFT140): c.853_856TTGA[1] (p.Ile286fs) short repeat Pathogenic rs431905506 16:1637976-1637979 16:1587975-1587978
14 IFT140 NM_014714.4(IFT140): c.3916dup (p.Ala1306fs) duplication Pathogenic rs587776909 16:1570006-1570006 16:1520005-1520005
15 IFT140 NM_014714.4(IFT140): c.4078T> C (p.Cys1360Arg) single nucleotide variant Pathogenic rs431905520 16:1568321-1568321 16:1518320-1518320
16 IFT140 NM_014714.4(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 16:1637962-1637962 16:1587961-1587961
17 IFT140 NM_014714.4(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 16:1621495-1621495 16:1571494-1571494
18 IFT140 NM_014714.4(IFT140): c.1377G> A (p.Trp459Ter) single nucleotide variant Pathogenic 16:1633370-1633370 16:1583369-1583369
19 IFT140 ; TELO2 GRCh37/hg19 16p13.3(chr16: 1557663-1561126) copy number loss Pathogenic 16:1557663-1561126 :0-0
20 IFT140 NM_014714.4(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201188361 16:1642177-1642177 16:1592176-1592176
21 IFT140 NM_014714.4(IFT140): c.1167del (p.Lys390fs) deletion Likely pathogenic rs1085307074 16:1634410-1634410 16:1584409-1584409
22 IFT140 NM_014714.4(IFT140): c.*2G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144879630 16:1560943-1560943 16:1510942-1510942
23 IFT140 NM_014714.4(IFT140): c.758G> A (p.Arg253Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141993139 16:1639658-1639658 16:1589657-1589657
24 IFT140 NM_014714.4(IFT140): c.1336A> G (p.Ile446Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139619013 16:1634241-1634241 16:1584240-1584240
25 IFT140 NM_014714.4(IFT140): c.4040+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138364426 16:1569872-1569872 16:1519871-1519871
26 IFT140 NM_014714.4(IFT140): c.3988G> A (p.Ala1330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200699325 16:1569934-1569934 16:1519933-1519933
27 IFT140 NM_014714.4(IFT140): c.3711C> T (p.Phe1237=) single nucleotide variant Conflicting interpretations of pathogenicity rs146172074 16:1570294-1570294 16:1520293-1520293
28 IFT140 NM_014714.4(IFT140): c.1542C> A (p.Leu514=) single nucleotide variant Conflicting interpretations of pathogenicity rs141542834 16:1621518-1621518 16:1571517-1571517
29 IFT140 NM_014714.4(IFT140): c.1541T> A (p.Leu514His) single nucleotide variant Conflicting interpretations of pathogenicity rs150903791 16:1621519-1621519 16:1571518-1571518
30 IFT140 NM_014714.4(IFT140): c.546C> T (p.Asp182=) single nucleotide variant Conflicting interpretations of pathogenicity rs150014480 16:1642265-1642265 16:1592264-1592264
31 IFT140 NM_014714.4(IFT140): c.3993G> C (p.Gln1331His) single nucleotide variant Conflicting interpretations of pathogenicity rs35823417 16:1569929-1569929 16:1519928-1519928
32 IFT140 NM_014714.4(IFT140): c.3693G> A (p.Thr1231=) single nucleotide variant Conflicting interpretations of pathogenicity rs144028766 16:1570312-1570312 16:1520311-1520311
33 IFT140 NM_014714.4(IFT140): c.491+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs187521755 16:1642461-1642461 16:1592460-1592460
34 IFT140 NM_014714.4(IFT140): c.154T> C (p.Cys52Arg) single nucleotide variant Uncertain significance rs886051770 16:1652586-1652586 16:1602585-1602585
35 IFT140 NM_014714.4(IFT140): c.1155+15G> A single nucleotide variant Uncertain significance rs764275810 16:1636116-1636116 16:1586115-1586115
36 IFT140 NM_014714.4(IFT140): c.4278G> T (p.Gly1426=) single nucleotide variant Uncertain significance rs200161877 16:1561056-1561056 16:1511055-1511055
37 IFT140 NM_014714.4(IFT140): c.4277G> A (p.Gly1426Glu) single nucleotide variant Uncertain significance rs886051708 16:1561057-1561057 16:1511056-1511056
38 IFT140 NM_014714.4(IFT140): c.4040+11G> A single nucleotide variant Uncertain significance rs144624901 16:1569871-1569871 16:1519870-1519870
39 IFT140 NM_014714.4(IFT140): c.3660+13C> T single nucleotide variant Uncertain significance rs767836990 16:1570590-1570590 16:1520589-1520589
40 IFT140 NM_014714.4(IFT140): c.3580C> G (p.Gln1194Glu) single nucleotide variant Uncertain significance rs555330165 16:1570683-1570683 16:1520682-1520682
41 IFT140 NM_014714.4(IFT140): c.2935G> A (p.Glu979Lys) single nucleotide variant Uncertain significance rs146277966 16:1574847-1574847 16:1524846-1524846
42 IFT140 NM_014714.4(IFT140): c.2908G> A (p.Glu970Lys) single nucleotide variant Uncertain significance rs143720412 16:1574874-1574874 16:1524873-1524873
43 IFT140 NM_014714.4(IFT140): c.2682C> A (p.His894Gln) single nucleotide variant Uncertain significance rs774192784 16:1575974-1575974 16:1525973-1525973
44 IFT140 NM_014714.4(IFT140): c.2561C> T (p.Thr854Met) single nucleotide variant Uncertain significance rs202189990 16:1576636-1576636 16:1526635-1526635
45 IFT140 NM_014714.4(IFT140): c.2423C> T (p.Ala808Val) single nucleotide variant Uncertain significance rs748463111 16:1576774-1576774 16:1526773-1526773
46 IFT140 NM_014714.4(IFT140): c.1649G> A (p.Arg550Gln) single nucleotide variant Uncertain significance rs762399912 16:1621411-1621411 16:1571410-1571410
47 IFT140 NM_014714.4(IFT140): c.1646C> T (p.Ser549Phe) single nucleotide variant Uncertain significance rs751137317 16:1621414-1621414 16:1571413-1571413
48 IFT140 NM_014714.4(IFT140): c.1360-14G> A single nucleotide variant Uncertain significance rs369246649 16:1633401-1633401 16:1583400-1583400
49 IFT140 NM_014714.4(IFT140): c.925G> A (p.Glu309Lys) single nucleotide variant Uncertain significance rs141993646 16:1637283-1637283 16:1587282-1587282
50 IFT140 NM_014714.4(IFT140): c.867C> G (p.Ser289Arg) single nucleotide variant Uncertain significance rs145858131 16:1637969-1637969 16:1587968-1587968

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

74
# 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

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 IFT88 IFT172 IFT140
2
Show member pathways
11.67 IFT88 IFT172 IFT140
3 10.41 IFT88 IFT172 IFT140

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 IFT88 IFT172 IFT140
2 centrosome GO:0005813 9.43 IFT88 IFT140
3 cilium GO:0005929 9.43 IFT88 IFT172 IFT140
4 axoneme GO:0005930 9.37 IFT172 IFT140
5 non-motile cilium GO:0097730 9.32 IFT88 IFT140
6 intraciliary transport particle B GO:0030992 9.16 IFT88 IFT172
7 ciliary basal body GO:0036064 9.13 IFT88 IFT172 IFT140
8 ciliary tip GO:0097542 8.8 IFT88 IFT172 IFT140

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

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

3 CDC
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10 dbSNP
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17 EFO
18 ExPASy
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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