SRTD9
MCID: SHR075
MIFTS: 53

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 72 15
Saldino-Mainzer Syndrome 20 43 58 29 6
Conorenal Syndrome 57 20 43 58 72
Mainzer-Saldino Syndrome 57 43 72 13
Srtd9 57 12 43 72
Mainzer-Saldino Disease 43 72 70
Mzsds 57 43 72
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia 57 43
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 12 20
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome 58
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia and Skeletal Dysplasia 72
Mainzer-Saldino Chondrodysplasia 43
Mainzer-Saldino Syndrome; Mzsds 57
Short-Rib Thoracic Dysplasia 9 43
Saldino-Mainzer Dysplasia 43
Mainzer Saldino Syndrome 20
Conorenal Dysplasia 43
Mss 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 20-May-2021)
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® 57 266920
OMIM Phenotypic Series 57 PS208500
ICD10 32 Q87.5
MESH via Orphanet 45 C535463
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 71 C1849437
Orphanet 58 ORPHA140969
MedGen 41 C1849437
UMLS 70 C1849437

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

MedlinePlus Genetics : 43 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 saldino-mainzer syndrome, is related to short-rib thoracic dysplasia 2 with or without polydactyly and short-rib thoracic dysplasia 5 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 eye, kidney and liver, 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.

GARD : 20 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 98)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 2 with or without polydactyly 32.2 WDR19 TTC21B
2 short-rib thoracic dysplasia 5 with or without polydactyly 32.1 WDR35 WDR19 IFT140 IFT122
3 short-rib thoracic dysplasia 12 31.7 WDR35 WDR19 TTC21B IFT43 IFT122
4 short-rib thoracic dysplasia 7 with or without polydactyly 31.6 WDR35 WDR19 TTC21B IFT140 CLUAP1
5 short-rib thoracic dysplasia 4 with or without polydactyly 31.6 WDR35 WDR19 TTC21B IFT140 CLUAP1
6 short-rib thoracic dysplasia 1 with or without polydactyly 31.2 WDR35 WDR19 TTC21B LOC105371046 IFT43 IFT172
7 short-rib thoracic dysplasia 6 with or without polydactyly 31.1 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
8 ciliopathy 30.8 TTC21B LOC105371046 IFT140
9 short-rib thoracic dysplasia 3 with or without polydactyly 30.7 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
10 retinitis pigmentosa 80 30.7 LOC105371046 IFT140
11 juvenile nephronophthisis 30.2 WDR19 TTC21B LOC105371046 IFT140
12 retinal degeneration 29.6 TTC21B IFT88 IFT43 IFT172 IFT140 CFAP410
13 senior-loken syndrome 1 29.4 WDR19 TTC21B IFT88 IFT172 IFT140 IFT122
14 leber plus disease 29.3 WDR19 TTC21B IFT88 IFT172 IFT140 CLUAP1
15 cranioectodermal dysplasia 29.3 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
16 joubert syndrome 1 29.1 WDR35 WDR19 TTC21B IFT88 IFT172 IFT140
17 retinitis pigmentosa 29.0 WDR35 WDR19 TTC21B LOC105371046 IFT88 IFT43
18 nephronophthisis 28.6 WDR35 WDR19 TTC21B LOC105371046 IFT88 IFT43
19 fundus dystrophy 28.4 WDR35 WDR19 TTC21B LOC105371046 IFT88 IFT43
20 marinesco-sjogren syndrome 11.6
21 short-rib thoracic dysplasia 8 with or without polydactyly 11.4
22 short-rib thoracic dysplasia 10 with or without polydactyly 11.4
23 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
24 short-rib thoracic dysplasia 14 with polydactyly 11.4
25 short-rib thoracic dysplasia 15 with polydactyly 11.4
26 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
27 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
28 short-rib thoracic dysplasia 18 with polydactyly 11.4
29 short-rib thoracic dysplasia 19 with or without polydactyly 11.4
30 short-rib thoracic dysplasia 20 with polydactyly 11.4
31 marshall-smith syndrome 11.3
32 mesomelia-synostoses syndrome 11.3
33 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
34 multiple synostoses syndrome 1 10.9
35 congenital cataracts, facial dysmorphism, and neuropathy 10.9
36 yemenite deaf-blind hypopigmentation syndrome 10.3
37 neuroretinitis 10.3
38 retinitis 10.3
39 retinal ciliopathy 10.3 LOC105371046 IFT140
40 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 10.3 LOC105371046 IFT140
41 colorectal cancer 10.2
42 nephronophthisis 13 10.2 WDR19 TTC21B
43 osteochondrodysplasia 10.2
44 night blindness 10.2
45 inherited retinal disorder 10.2
46 syndromic rod-cone dystrophy 10.2
47 joubert syndrome with jeune asphyxiating thoracic dystrophy 10.2 LOC105371046 IFT140
48 nephronophthisis 12 10.1 WDR19 TTC21B
49 short rib-polydactyly syndrome 10.1 WDR35 IFT43
50 hereditary nonpolyposis colon cancer 10.1

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 microcephaly 31 occasional (7.5%) HP:0000252
4 cognitive impairment 31 occasional (7.5%) HP:0100543
5 craniosynostosis 31 occasional (7.5%) HP:0001363
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 nystagmus 31 HP:0000639
10 ataxia 31 HP:0001251
11 high palate 31 HP:0000218
12 macroglossia 31 HP:0000158
13 widely spaced teeth 31 HP:0000687
14 short stature 31 HP:0004322
15 nephropathy 31 HP:0000112
16 prominent forehead 31 HP:0011220
17 anemia 31 HP:0001903
18 microdontia 31 HP:0000691
19 hepatic fibrosis 31 HP:0001395
20 wide mouth 31 HP:0000154
21 rod-cone dystrophy 31 HP:0000510
22 nephronophthisis 31 HP:0000090
23 cone-shaped epiphysis 31 HP:0010579
24 trigonocephaly 31 HP:0000243
25 renal cyst 31 HP:0000107
26 short phalanx of finger 31 HP:0009803
27 visual loss 31 HP:0000572
28 accessory oral frenulum 31 HP:0000191
29 renal dysplasia 31 HP:0000110
30 short femoral neck 31 HP:0100864
31 stage 5 chronic kidney disease 31 HP:0003774
32 narrow forehead 31 HP:0000341
33 hypoplasia of the capital femoral epiphysis 31 HP:0003090
34 scaphocephaly 31 HP:0030799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

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

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

Genitourinary Kidneys:
nephronophthisis
renal cysts
chronic renal failure
sclerosing glomerulonephropathy

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 (Updated 20-May-2021)

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 cardiovascular system MP:0005385 10.11 ASB7 CACNA1H CLUAP1 IFT122 IFT140 IFT172
2 embryo MP:0005380 10.07 CLUAP1 IFT122 IFT140 IFT172 IFT43 IFT88
3 growth/size/body region MP:0005378 10.06 ASB7 CACNA1H CLUAP1 IFT122 IFT140 IFT172
4 craniofacial MP:0005382 9.98 IFT122 IFT140 IFT172 IFT43 IFT88 TTC21B
5 nervous system MP:0003631 9.9 BAIAP3 CACNA1H CLUAP1 IFT122 IFT140 IFT172
6 digestive/alimentary MP:0005381 9.88 IFT122 IFT140 IFT172 IFT88 WDR19 WDR35
7 limbs/digits/tail MP:0005371 9.8 IFT122 IFT140 IFT172 IFT88 TTC21B WDR19
8 respiratory system MP:0005388 9.43 ASB7 CACNA1H IFT140 IFT172 IFT88 WDR35
9 vision/eye MP:0005391 9.23 ASB7 IFT122 IFT140 IFT172 IFT43 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 Saldino-Mainzer Syndrome 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
Eye, Kidney, Liver, Retina, Pancreas, Cerebellum, Colon

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 26)
# Title Authors PMID Year
1
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 6 57
28288023 2017
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 6 57
28724397 2017
3
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 57 6
23418020 2013
4
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 57 6
22503633 2012
5
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
6
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. 6
29688594 2018
7
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
8
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
9
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 57
27874174 2017
10
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. 6
26359340 2016
11
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. 6
26968735 2016
12
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. 6
26766544 2016
13
Mutations in human IFT140 cause non-syndromic retinal degeneration. 6
26216056 2015
14
Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. 6
24698627 2014
15
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
16
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. 6
24009529 2013
17
Ciliary disorder of the skeleton. 57
22791528 2012
18
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. 57
17853467 2007
19
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 6
17576681 2007
20
Statistical features of human exons and their flanking regions. 6
9536098 1998
21
Hereditary sclerosing glomerulopathy in the conorenal syndrome. 57
7747734 1995
22
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes. 57
431989 1979
23
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. 57
1008585 1976
24
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. 57
1008584 1976
25
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. 57
4991086 1970
26
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:

6 (show top 50) (show all 535)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT140 , LOC105371046 NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) SNV Pathogenic 31681 rs387907193 GRCh37: 16:1637276-1637276
GRCh38: 16:1587275-1587275
2 IFT140 , LOC105371046 NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs) Microsatellite Pathogenic 31682 rs431905506 GRCh37: 16:1637976-1637979
GRCh38: 16:1587975-1587978
3 IFT140 NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) SNV Pathogenic 97052 rs431905520 GRCh37: 16:1568321-1568321
GRCh38: 16:1518320-1518320
4 IFT140 NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) SNV Pathogenic 446316 rs1555486629 GRCh37: 16:1608057-1608057
GRCh38: 16:1558056-1558056
5 IFT140 NM_014714.4(IFT140):c.2577+25G>A SNV Pathogenic 523178 rs1423102192 GRCh37: 16:1576595-1576595
GRCh38: 16:1526594-1526594
6 IFT140 , LOC105371046 NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) SNV Pathogenic 523179 rs1403669200 GRCh37: 16:1642505-1642505
GRCh38: 16:1592504-1592504
7 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) SNV Pathogenic 523184 rs1555491448 GRCh37: 16:1634258-1634258
GRCh38: 16:1584257-1584257
8 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) SNV Pathogenic 580815 rs140039128 GRCh37: 16:1633370-1633370
GRCh38: 16:1583369-1583369
9 IFT140 NM_014714.4(IFT140):c.3192del (p.Glu1065fs) Deletion Pathogenic 803144 rs1567327347 GRCh37: 16:1573907-1573907
GRCh38: 16:1523906-1523906
10 IFT140 NM_014714.4(IFT140):c.3981del (p.Arg1328fs) Deletion Pathogenic 949370 GRCh37: 16:1569941-1569941
GRCh38: 16:1519940-1519940
11 IFT140 , LOC105371046 NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) SNV Pathogenic 949617 GRCh37: 16:1652500-1652500
GRCh38: 16:1602499-1602499
12 IFT140 NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) SNV Pathogenic 489108 rs1002670900 GRCh37: 16:1569983-1569983
GRCh38: 16:1519982-1519982
13 IFT140 NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) Indel Pathogenic 970601 GRCh37: 16:1574834-1574838
GRCh38: 16:1524833-1524837
14 IFT140 , LOC105371046 NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) SNV Pathogenic 931217 GRCh37: 16:1642253-1642253
GRCh38: 16:1592252-1592252
15 IFT140 , LOC105371046 NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del Deletion Pathogenic 523183 GRCh37: 16:1652593-1657268
GRCh38: 16:1602592-1607267
16 overlap with 2 genes GRCh37/hg19 16p13.3(chr16:1557663-1561126) copy number loss Pathogenic 625674 GRCh37: 16:1557663-1561126
GRCh38:
17 IFT140 GRCh37/hg19 16p13.3(chr16:1568217-1570809) copy number loss Pathogenic 813315 GRCh37: 16:1568217-1570809
GRCh38:
18 IFT140 NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) SNV Pathogenic 620349 rs1567330535 GRCh37: 16:1576000-1576000
GRCh38: 16:1525999-1525999
19 IFT140 , LOC105371046 NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) SNV Pathogenic 974394 GRCh37: 16:1637233-1637233
GRCh38: 16:1587232-1587232
20 IFT140 NM_014714.4:c.(?_-1)_(*1_?)del Deletion Pathogenic 974558 GRCh37:
GRCh38:
21 IFT140 NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) SNV Pathogenic 31679 rs387907192 GRCh37: 16:1614075-1614075
GRCh38: 16:1564074-1564074
22 IFT140 NM_014714.4(IFT140):c.2399+1G>T SNV Pathogenic 31680 rs376586707 GRCh37: 16:1607935-1607935
GRCh38: 16:1557934-1557934
23 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
24 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
25 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
26 IFT140 NM_014714.4(IFT140):c.3141+1G>T SNV Pathogenic 523180 rs764770536 GRCh37: 16:1574552-1574552
GRCh38: 16:1524551-1524551
27 IFT140 NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) SNV Pathogenic 523181 rs1417500285 GRCh37: 16:1612008-1612008
GRCh38: 16:1562007-1562007
28 IFT140 , LOC105371046 NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV Pathogenic 97053 rs431905521 GRCh37: 16:1637962-1637962
GRCh38: 16:1587961-1587961
29 IFT140 NM_014714.4(IFT140):c.3454-1003_4040+737delinsC Indel Pathogenic 523185 GRCh37: 16:1569145-1571812
GRCh38: 16:1519144-1521811
30 IFT140 , LOC105371046 NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) SNV Pathogenic 438181 rs773372123 GRCh37: 16:1637210-1637210
GRCh38: 16:1587209-1587209
31 IFT140 , LOC105371046 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV Pathogenic 31683 rs201188361 GRCh37: 16:1642177-1642177
GRCh38: 16:1592176-1592176
32 WDR19 NM_025132.4(WDR19):c.1442A>G (p.His481Arg) SNV Pathogenic 974369 GRCh37: 4:39219688-39219688
GRCh38: 4:39218068-39218068
33 WDR19 NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) SNV Pathogenic 974371 GRCh37: 4:39254777-39254777
GRCh38: 4:39253157-39253157
34 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1010-1G>A SNV Pathogenic 280884 rs770185023 GRCh37: 16:1636277-1636277
GRCh38: 16:1586276-1586276
35 IFT140 NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) Duplication Pathogenic 31684 rs587776909 GRCh37: 16:1570005-1570006
GRCh38: 16:1520004-1520005
36 IFT140 , LOC105371046 NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV Pathogenic 97053 rs431905521 GRCh37: 16:1637962-1637962
GRCh38: 16:1587961-1587961
37 IFT140 , LOC105371046 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV Pathogenic/Likely pathogenic 31683 rs201188361 GRCh37: 16:1642177-1642177
GRCh38: 16:1592176-1592176
38 IFT140 , LOC105371046 NM_014714.4(IFT140):c.634+5G>A SNV Likely pathogenic 866080 GRCh37: 16:1642172-1642172
GRCh38: 16:1592171-1592171
39 IFT140 NM_014714.4(IFT140):c.3874-1G>A SNV Likely pathogenic 961146 GRCh37: 16:1570049-1570049
GRCh38: 16:1520048-1520048
40 IFT140 , LOC105371046 NM_014714.4(IFT140):c.148-2A>G SNV Likely pathogenic 963041 GRCh37: 16:1652594-1652594
GRCh38: 16:1602593-1602593
41 IFT140 NM_014714.4(IFT140):c.1901+1G>T SNV Likely pathogenic 939285 GRCh37: 16:1616161-1616161
GRCh38: 16:1566160-1566160
42 IFT140 , LOC105371046 NM_014714.4(IFT140):c.1167del (p.Lys390fs) Deletion Likely pathogenic 225390 rs1085307074 GRCh37: 16:1634410-1634410
GRCh38: 16:1584409-1584409
43 IFT140 , LOC105371046 NM_014714.4(IFT140):c.370-3_370-1delinsAA Indel Likely pathogenic 969462 GRCh37: 16:1642590-1642592
GRCh38: 16:1592589-1592591
44 IFT140 , LOC105371046 NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) SNV Likely pathogenic 1048757 GRCh37: 16:1637950-1637950
GRCh38: 16:1587949-1587949
45 IFT140 NM_014714.4(IFT140):c.2767_2768+2del Deletion Likely pathogenic 863072 GRCh37: 16:1575886-1575889
GRCh38: 16:1525885-1525888
46 IFT140 NM_014714.4(IFT140):c.1525-1G>A SNV Likely pathogenic 974844 GRCh37: 16:1621536-1621536
GRCh38: 16:1571535-1571535
47 IFT140 , LOC105371046 NM_014714.4(IFT140):c.546C>T (p.Asp182=) SNV Conflicting interpretations of pathogenicity 318210 rs150014480 GRCh37: 16:1642265-1642265
GRCh38: 16:1592264-1592264
48 IFT140 NM_014714.4(IFT140):c.2787G>A (p.Thr929=) SNV Conflicting interpretations of pathogenicity 283368 rs374661866 GRCh37: 16:1575309-1575309
GRCh38: 16:1525308-1525308
49 IFT140 NM_014714.4(IFT140):c.2724C>T (p.Ala908=) SNV Conflicting interpretations of pathogenicity 790139 rs138166567 GRCh37: 16:1575932-1575932
GRCh38: 16:1525931-1525931
50 IFT140 NM_014714.4(IFT140):c.1593G>T (p.Gly531=) SNV Conflicting interpretations of pathogenicity 766906 rs143491016 GRCh37: 16:1621467-1621467
GRCh38: 16:1571466-1571466

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

72
# 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
12.34 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
2
Show member pathways
12.24 WDR35 WDR19 TTC21B IFT88 IFT172 IFT140
3 10.9 IFT88 IFT172
4 10.89 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 10.09 WDR35 WDR19 TTC21B IFT88 IFT43 IFT140
2 cell projection GO:0042995 9.96 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
3 centrosome GO:0005813 9.83 WDR35 IFT88 IFT140 CLUAP1
4 cilium GO:0005929 9.81 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
5 ciliary basal body GO:0036064 9.8 WDR35 IFT88 IFT172 IFT140 IFT122 CFAP410
6 photoreceptor connecting cilium GO:0032391 9.71 WDR19 IFT140 IFT122 CFAP410
7 centriole GO:0005814 9.69 IFT88 IFT140 CCDC78
8 axoneme GO:0005930 9.67 WDR35 IFT172 IFT140
9 non-motile cilium GO:0097730 9.67 WDR19 IFT88 IFT140 IFT122
10 photoreceptor outer segment GO:0001750 9.65 WDR19 IFT140 CFAP410
11 intraciliary transport particle B GO:0030992 9.63 IFT88 IFT172 CLUAP1
12 intraciliary transport particle A GO:0030991 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
13 ciliary tip GO:0097542 9.28 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 13)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.91 WDR35 WDR19 IFT88 IFT43 IFT172 IFT140
2 cell projection organization GO:0030030 9.81 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 9.63 WDR19 TTC21B IFT172
7 regulation of smoothened signaling pathway GO:0008589 9.61 TTC21B IFT172 IFT140
8 limb development GO:0060173 9.52 IFT172 IFT122
9 embryonic cranial skeleton morphogenesis GO:0048701 9.51 WDR19 IFT140
10 negative regulation of smoothened signaling pathway GO:0045879 9.49 IFT172 IFT122
11 embryonic camera-type eye development GO:0031076 9.48 WDR19 IFT140
12 intraciliary retrograde transport GO:0035721 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
13 intraciliary transport involved in cilium assembly GO:0035735 9.28 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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