SRTD9
MCID: SHR075
MIFTS: 52

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 56 12 73 15
Mainzer-Saldino Syndrome 56 25 73 13 39
Conorenal Syndrome 56 52 25 58 73
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 12 52 29 6
Srtd9 56 12 25 73
Saldino-Mainzer Syndrome 52 25 58
Mainzer-Saldino Disease 25 73 71
Mzsds 56 25 73
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia 56 25
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome 58
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia and Skeletal Dysplasia 73
Mainzer-Saldino Chondrodysplasia 25
Mainzer-Saldino Syndrome; Mzsds 56
Short-Rib Thoracic Dysplasia 9 25
Saldino-Mainzer Dysplasia 25
Mainzer Saldino Syndrome 52
Conorenal Dysplasia 25
Mss 73

Characteristics:

Orphanet epidemiological data:

58
saldino-mainzer syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable manifestations


HPO:

31
short-rib thoracic dysplasia 9 with or without polydactyly:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0110097
OMIM 56 266920
OMIM Phenotypic Series 56 PS208500
ICD10 32 Q87.5
MESH via Orphanet 44 C535463
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 72 C1849437
Orphanet 58 ORPHA140969
MedGen 41 C1849437
UMLS 71 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 2 with or without polydactyly and short-rib thoracic dysplasia 4 with or without polydactyly, 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 eye, 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 : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 140969 Definition Saldino-Mainzer syndrome is characterised by the association of renal disease , retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia. Epidemiology Around 10 cases have been described in the literature so far. Clinical description Mild 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 counseling The syndrome is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

OMIM : 56 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (266920)

UniProtKB/Swiss-Prot : 73 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 88)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 2 with or without polydactyly 32.5 WDR19 TTC21B
2 short-rib thoracic dysplasia 4 with or without polydactyly 32.4 WDR35 TTC21B IFT140
3 short-rib thoracic dysplasia 7 with or without polydactyly 31.8 WDR35 WDR19 TTC21B IFT140 IFT122
4 short-rib thoracic dysplasia 12 31.6 WDR35 WDR19 TTC21B IFT43 IFT122
5 short-rib thoracic dysplasia 5 with or without polydactyly 31.3 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
6 ciliopathy 31.0 WDR19 TTC21B IFT140
7 short-rib thoracic dysplasia 3 with or without polydactyly 30.5 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
8 short-rib thoracic dysplasia 6 with or without polydactyly 30.5 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
9 short-rib thoracic dysplasia 1 with or without polydactyly 30.4 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
10 leber congenital amaurosis 29.6 TTC21B IFT88 IFT172 IFT140
11 senior-loken syndrome 1 29.2 WDR19 TTC21B IFT88 IFT140 IFT122
12 fundus dystrophy 28.8 WDR19 TTC21B IFT88 IFT172 IFT140 IFT122
13 cranioectodermal dysplasia 1 28.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
14 joubert syndrome 1 28.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
15 nephronophthisis 28.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
16 asphyxiating thoracic dystrophy 28.6 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
17 retinitis pigmentosa 27.9 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
18 marinesco-sjogren syndrome 12.2
19 marshall-smith syndrome 11.9
20 short-rib thoracic dysplasia 8 with or without polydactyly 11.6
21 short-rib thoracic dysplasia 10 with or without polydactyly 11.6
22 short-rib thoracic dysplasia 11 with or without polydactyly 11.6
23 short-rib thoracic dysplasia 14 with polydactyly 11.6
24 short-rib thoracic dysplasia 15 with polydactyly 11.6
25 short-rib thoracic dysplasia 16 with or without polydactyly 11.6
26 short-rib thoracic dysplasia 17 with or without polydactyly 11.6
27 short-rib thoracic dysplasia 18 with polydactyly 11.6
28 short-rib thoracic dysplasia 19 with or without polydactyly 11.6
29 short-rib thoracic dysplasia 20 with polydactyly 11.6
30 mesomelia-synostoses syndrome 11.6
31 short-rib thoracic dysplasia 13 with or without polydactyly 11.5
32 multiple synostoses syndrome 1 11.2
33 congenital cataracts, facial dysmorphism, and neuropathy 11.2
34 colorectal cancer 10.5
35 yemenite deaf-blind hypopigmentation syndrome 10.4
36 retinitis pigmentosa 80 10.4
37 neuroretinitis 10.4
38 retinitis 10.4
39 inherited retinal disorder 10.4
40 juvenile nephronophthisis 10.4
41 adenocarcinoma 10.2
42 lynch syndrome 10.2
43 peripheral dysostosis 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:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 frequent (33%) HP:0002240
2 cholestasis 31 frequent (33%) HP:0001396
3 craniosynostosis 31 occasional (7.5%) HP:0001363
4 microcephaly 31 occasional (7.5%) HP:0000252
5 cognitive impairment 31 occasional (7.5%) HP:0100543
6 short ribs 31 occasional (7.5%) HP:0000773
7 bifid uvula 31 very rare (1%) HP:0000193
8 frontal bossing 31 HP:0002007
9 high palate 31 HP:0000218
10 nystagmus 31 HP:0000639
11 ataxia 31 HP:0001251
12 macroglossia 31 HP:0000158
13 widely spaced teeth 31 HP:0000687
14 short stature 31 HP:0004322
15 rod-cone dystrophy 31 HP:0000510
16 renal cyst 31 HP:0000107
17 nephropathy 31 HP:0000112
18 prominent forehead 31 HP:0011220
19 anemia 31 HP:0001903
20 narrow forehead 31 HP:0000341
21 cone-shaped epiphysis 31 HP:0010579
22 microdontia 31 HP:0000691
23 hepatic fibrosis 31 HP:0001395
24 wide mouth 31 HP:0000154
25 trigonocephaly 31 HP:0000243
26 visual loss 31 HP:0000572
27 nephronophthisis 31 HP:0000090
28 short phalanx of finger 31 HP:0009803
29 stage 5 chronic kidney disease 31 HP:0003774
30 renal dysplasia 31 HP:0000110
31 accessory oral frenulum 31 HP:0000191
32 short femoral neck 31 HP:0100864
33 scaphocephaly 31 HP:0030799
34 hypoplasia of the capital femoral epiphysis 31 HP:0003090

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.87 IFT122 IFT140 IFT172 IFT43 IFT88 TTC21B
2 embryo MP:0005380 9.81 IFT122 IFT140 IFT172 IFT43 IFT88 TM2D3
3 digestive/alimentary MP:0005381 9.73 IFT122 IFT140 IFT172 IFT88 WDR19 WDR35
4 limbs/digits/tail MP:0005371 9.5 IFT122 IFT140 IFT172 IFT88 TTC21B WDR19
5 nervous system MP:0003631 9.23 IFT122 IFT140 IFT172 IFT43 IFT88 TM2D3

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:

40
Liver, Kidney, Eye, Bone, 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. 6 56
28288023 2017
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 6 56
28724397 2017
3
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 56 6
23418020 2013
4
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 6 56
22503633 2012
5
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 56
27874174 2017
6
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 6
26359340 2016
7
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 6
26968735 2016
8
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. 6
24698627 2014
9
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 56
24183451 2013
10
Ciliary disorder of the skeleton. 56
22791528 2012
11
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. 56
17853467 2007
12
Hereditary sclerosing glomerulopathy in the conorenal syndrome. 56
7747734 1995
13
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes. 56
431989 1979
14
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. 56
1008584 1976
15
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. 56
1008585 1976
16
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. 56
4991086 1970
17
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. 61
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)duplication Pathogenic 31684 rs587776909 16:1570006-1570006 16:1520005-1520005
2 IFT140 NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg)SNV Pathogenic 97052 rs431905520 16:1568321-1568321 16:1518320-1518320
3 IFT140 NM_014714.4(IFT140):c.874G>A (p.Val292Met)SNV Pathogenic 97053 rs431905521 16:1637962-1637962 16:1587961-1587961
4 IFT140 NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)SNV Pathogenic 97054 rs199826737 16:1621495-1621495 16:1571494-1571494
5 IFT140 NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)SNV Pathogenic 31679 rs387907192 16:1614075-1614075 16:1564074-1564074
6 IFT140 NM_014714.4(IFT140):c.2399+1G>TSNV Pathogenic 31680 rs376586707 16:1607935-1607935 16:1557934-1557934
7 IFT140 NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys)SNV Pathogenic 31681 rs387907193 16:1637276-1637276 16:1587275-1587275
8 IFT140 NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs)short repeat Pathogenic 31682 rs431905506 16:1637976-1637979 16:1587975-1587978
9 IFT140 NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter)SNV Pathogenic 446316 rs1555486629 16:1608057-1608057 16:1558056-1558056
10 IFT140 NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)deldeletion Pathogenic 523183 16:1652593-1657268 16:1602592-1607267
11 IFT140 NM_014714.3(IFT140):c.3454-488_4182+2588dupduplication Pathogenic 523177 16:1565629-1571297 16:1515628-1521296
12 IFT140 NM_014714.4(IFT140):c.3454-1003_4040+737delinsCindel Pathogenic 523185 16:1569145-1571814 16:1519144-1521813
13 IFT140 NM_014714.4(IFT140):c.3141+1G>TSNV Pathogenic 523180 rs764770536 16:1574552-1574552 16:1524551-1524551
14 IFT140 NM_014714.4(IFT140):c.2577+25G>ASNV Pathogenic 523178 rs1423102192 16:1576595-1576595 16:1526594-1526594
15 IFT140 NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu)SNV Pathogenic 523181 rs1417500285 16:1612008-1612008 16:1562007-1562007
16 IFT140 NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)SNV Pathogenic 523184 rs1555491448 16:1634258-1634258 16:1584257-1584257
17 IFT140 NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)SNV Pathogenic 523179 rs1403669200 16:1642505-1642505 16:1592504-1592504
18 IFT140 NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)SNV Pathogenic 580815 16:1633370-1633370 16:1583369-1583369
19 IFT140 , TELO2 GRCh37/hg19 16p13.3(chr16:1557663-1561126)copy number loss Pathogenic 625674 16:1557663-1561126
20 IFT140 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)SNV Pathogenic/Likely pathogenic 31683 rs201188361 16:1642177-1642177 16:1592176-1592176
21 IFT140 NM_014714.4(IFT140):c.1167del (p.Lys390fs)deletion Likely pathogenic 225390 rs1085307074 16:1634410-1634410 16:1584409-1584409
22 IFT140 NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)SNV Conflicting interpretations of pathogenicity 193897 rs139619013 16:1634241-1634241 16:1584240-1584240
23 IFT140 NM_014714.4(IFT140):c.4040+10C>TSNV Conflicting interpretations of pathogenicity 196178 rs138364426 16:1569872-1569872 16:1519871-1519871
24 IFT140 NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)SNV Conflicting interpretations of pathogenicity 196179 rs200699325 16:1569934-1569934 16:1519933-1519933
25 IFT140 NM_014714.4(IFT140):c.1542C>A (p.Leu514=)SNV Conflicting interpretations of pathogenicity 288048 rs141542834 16:1621518-1621518 16:1571517-1571517
26 IFT140 NM_014714.4(IFT140):c.1541T>A (p.Leu514His)SNV Conflicting interpretations of pathogenicity 288049 rs150903791 16:1621519-1621519 16:1571518-1571518
27 IFT140 NM_014714.4(IFT140):c.*2G>ASNV Conflicting interpretations of pathogenicity 281447 rs144879630 16:1560943-1560943 16:1510942-1510942
28 IFT140 NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)SNV Conflicting interpretations of pathogenicity 282935 rs141993139 16:1639658-1639658 16:1589657-1589657
29 IFT140 NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)SNV Conflicting interpretations of pathogenicity 317999 rs146172074 16:1570294-1570294 16:1520293-1520293
30 IFT140 NM_014714.4(IFT140):c.3693G>A (p.Thr1231=)SNV Conflicting interpretations of pathogenicity 318000 rs144028766 16:1570312-1570312 16:1520311-1520311
31 IFT140 NM_014714.4(IFT140):c.3993G>C (p.Gln1331His)SNV Conflicting interpretations of pathogenicity 317992 rs35823417 16:1569929-1569929 16:1519928-1519928
32 IFT140 NM_014714.4(IFT140):c.491+7G>ASNV Conflicting interpretations of pathogenicity 318212 rs187521755 16:1642461-1642461 16:1592460-1592460
33 IFT140 NM_014714.4(IFT140):c.546C>T (p.Asp182=)SNV Conflicting interpretations of pathogenicity 318210 rs150014480 16:1642265-1642265 16:1592264-1592264
34 IFT140 NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)SNV Uncertain significance 318218 rs886051770 16:1652586-1652586 16:1602585-1602585
35 IFT140 NM_014714.4(IFT140):c.2682_2683insA (p.His895fs)insertion Uncertain significance 318047 rs776988446 16:1575973-1575974 16:1525972-1525973
36 IFT140 NM_014714.4(IFT140):c.1831G>A (p.Val611Ile)SNV Uncertain significance 318186 rs35301526 16:1616232-1616232 16:1566231-1566231
37 IFT140 NM_014714.4(IFT140):c.867C>T (p.Ser289=)SNV Uncertain significance 318199 rs145858131 16:1637969-1637969 16:1587968-1587968
38 IFT140 NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)SNV Uncertain significance 317996 rs775044452 16:1570217-1570217 16:1520216-1520216
39 IFT140 NM_014714.4(IFT140):c.3668G>A (p.Arg1223Lys)SNV Uncertain significance 318002 rs751861503 16:1570337-1570337 16:1520336-1520336
40 IFT140 NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)SNV Uncertain significance 318004 rs147292597 16:1570661-1570661 16:1520660-1520660
41 IFT140 NM_014714.4(IFT140):c.3558G>A (p.Glu1186=)SNV Uncertain significance 318007 rs368713443 16:1570705-1570705 16:1520704-1520704
42 IFT140 NM_014714.4(IFT140):c.3501C>T (p.Thr1167=)SNV Uncertain significance 318009 rs377319314 16:1570762-1570762 16:1520761-1520761
43 IFT140 NM_014714.4(IFT140):c.3490A>G (p.Met1164Val)SNV Uncertain significance 318010 rs369425839 16:1570773-1570773 16:1520772-1520772
44 IFT140 NM_014714.4(IFT140):c.3271-4G>ASNV Uncertain significance 318014 rs200815296 16:1573705-1573705 16:1523704-1523704
45 IFT140 NM_014714.4(IFT140):c.3147C>T (p.Asn1049=)SNV Uncertain significance 318034 rs150129370 16:1573952-1573952 16:1523951-1523951
46 IFT140 NM_014714.4(IFT140):c.3660+13C>TSNV Uncertain significance 318003 rs767836990 16:1570590-1570590 16:1520589-1520589
47 IFT140 NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu)SNV Uncertain significance 318005 rs555330165 16:1570683-1570683 16:1520682-1520682
48 IFT140 NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)SNV Uncertain significance 318040 rs146277966 16:1574847-1574847 16:1524846-1524846
49 IFT140 NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)SNV Uncertain significance 318041 rs143720412 16:1574874-1574874 16:1524873-1524873
50 IFT140 NM_014714.4(IFT140):c.2682C>A (p.His894Gln)SNV Uncertain significance 318048 rs774192784 16:1575974-1575974 16:1525973-1525973

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

73
# 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
12.28 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
2
Show member pathways
12.24 WDR35 WDR19 TTC21B IFT88 IFT172 IFT140
3 10.9 IFT88 IFT172
4 10.84 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.02 WDR35 WDR19 TTC21B IFT88 IFT43 IFT140
2 cell projection GO:0042995 9.97 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
3 microtubule organizing center GO:0005815 9.8 WDR35 IFT88 IFT43 IFT140
4 cilium GO:0005929 9.76 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
5 photoreceptor connecting cilium GO:0032391 9.73 WDR19 IFT140 IFT122 CFAP410
6 ciliary basal body GO:0036064 9.73 WDR35 IFT88 IFT172 IFT140 IFT122 CFAP410
7 non-motile cilium GO:0097730 9.71 WDR19 IFT88 IFT140 IFT122
8 axoneme GO:0005930 9.65 WDR35 IFT172 IFT140
9 photoreceptor outer segment GO:0001750 9.63 WDR19 IFT140 CFAP410
10 ciliary base GO:0097546 9.52 IFT88 IFT122
11 intraciliary transport particle B GO:0030992 9.51 IFT88 IFT172
12 intraciliary transport particle A GO:0030991 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
13 ciliary tip GO:0097542 9.23 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.86 WDR35 WDR19 IFT88 IFT43 IFT172 IFT140
2 cell projection organization GO:0030030 9.76 WDR35 WDR19 IFT88 IFT43 IFT140 IFT122
3 intraciliary transport GO:0042073 9.72 WDR35 IFT88 IFT172 IFT140 IFT122
4 non-motile cilium assembly GO:1905515 9.71 IFT88 IFT172 IFT140 IFT122
5 protein localization to cilium GO:0061512 9.67 WDR35 TTC21B IFT140 IFT122
6 smoothened signaling pathway GO:0007224 9.65 WDR19 TTC21B IFT172
7 regulation of smoothened signaling pathway GO:0008589 9.61 TTC21B IFT172 IFT140
8 negative regulation of epithelial cell proliferation GO:0050680 9.58 IFT172 IFT122
9 embryonic digit morphogenesis GO:0042733 9.57 IFT140 IFT122
10 regulation of cilium assembly GO:1902017 9.56 IFT88 IFT140
11 limb development GO:0060173 9.55 IFT172 IFT122
12 dorsal/ventral pattern formation GO:0009953 9.54 IFT172 IFT122
13 embryonic cranial skeleton morphogenesis GO:0048701 9.52 WDR19 IFT140
14 embryonic camera-type eye development GO:0031076 9.51 WDR19 IFT140
15 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.49 WDR19 IFT122
16 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.46 WDR19 IFT122
17 intraciliary retrograde transport GO:0035721 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
18 intraciliary transport involved in cilium assembly GO:0035735 9.23 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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