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 73 15
Saldino-Mainzer Syndrome 20 43 58 29 6
Conorenal Syndrome 57 20 43 58 73
Mainzer-Saldino Syndrome 57 43 73 13
Srtd9 57 12 43 73
Mainzer-Saldino Disease 43 73 71
Mzsds 57 43 73
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 73
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 73

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-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 72 C1849437
Orphanet 58 ORPHA140969
MedGen 41 C1849437
UMLS 71 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 retina, 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: 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) (Updated 05-Mar-2021)

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 92)
# 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 32.0 WDR35 WDR19 IFT140 IFT122
3 short-rib thoracic dysplasia 4 with or without polydactyly 32.0 WDR35 WDR19 TTC21B IFT140
4 short-rib thoracic dysplasia 7 with or without polydactyly 31.7 WDR35 WDR19 TTC21B IFT140 IFT122
5 short-rib thoracic dysplasia 12 31.6 WDR35 WDR19 TTC21B IFT43 IFT122
6 short-rib thoracic dysplasia 1 with or without polydactyly 31.2 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
7 short-rib thoracic dysplasia 6 with or without polydactyly 31.0 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
8 short-rib thoracic dysplasia 3 with or without polydactyly 31.0 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
9 ciliopathy 30.6 TTC21B IFT140 IFT122
10 leber plus disease 29.6 WDR19 TTC21B IFT88 IFT172 IFT140 CFAP410
11 retinal degeneration 29.5 TTC21B IFT88 IFT43 IFT172 IFT140 CFAP410
12 joubert syndrome 1 29.4 WDR35 WDR19 TTC21B IFT88 IFT172 IFT140
13 senior-loken syndrome 1 29.3 WDR19 TTC21B IFT88 IFT172 IFT140 IFT122
14 cranioectodermal dysplasia 29.1 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
15 nephronophthisis 29.1 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
16 retinitis pigmentosa 29.0 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
17 fundus dystrophy 28.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
18 marinesco-sjogren syndrome 11.6
19 short-rib thoracic dysplasia 8 with or without polydactyly 11.4
20 short-rib thoracic dysplasia 10 with or without polydactyly 11.4
21 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
22 short-rib thoracic dysplasia 14 with polydactyly 11.4
23 short-rib thoracic dysplasia 15 with polydactyly 11.4
24 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
25 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
26 short-rib thoracic dysplasia 18 with polydactyly 11.4
27 short-rib thoracic dysplasia 19 with or without polydactyly 11.4
28 short-rib thoracic dysplasia 20 with polydactyly 11.4
29 marshall-smith syndrome 11.3
30 mesomelia-synostoses syndrome 11.2
31 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
32 multiple synostoses syndrome 1 10.9
33 congenital cataracts, facial dysmorphism, and neuropathy 10.9
34 yemenite deaf-blind hypopigmentation syndrome 10.3
35 neuroretinitis 10.3
36 retinitis 10.3
37 retinitis pigmentosa 80 10.2
38 chronic kidney disease 10.2
39 night blindness 10.2
40 inherited retinal disorder 10.2
41 juvenile nephronophthisis 10.2
42 syndromic rod-cone dystrophy 10.2
43 joubert syndrome 17 10.2 WDR35 IFT140
44 nephronophthisis 13 10.1 WDR19 TTC21B
45 colorectal cancer 10.1
46 short rib-polydactyly syndrome 10.1 WDR35 IFT43
47 hereditary nonpolyposis colon cancer 10.1
48 nephronophthisis 12 10.0 WDR19 TTC21B
49 lynch syndrome 10.0
50 cranioectodermal dysplasia 1 10.0 WDR35 WDR19 IFT140 IFT122

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 visual loss 31 HP:0000572
27 short phalanx of finger 31 HP:0009803
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 05-Mar-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 05-Mar-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 10.08 ASB7 CACNA1H IFT122 IFT140 IFT172 IFT43
2 growth/size/body region MP:0005378 10.07 ASB7 CACNA1H IFT122 IFT140 IFT172 IFT43
3 embryo MP:0005380 10.06 IFT122 IFT140 IFT172 IFT43 IFT88 TM2D3
4 craniofacial MP:0005382 10 IFT122 IFT140 IFT172 IFT43 IFT88 TTC21B
5 nervous system MP:0003631 9.96 BAIAP3 CACNA1H IFT122 IFT140 IFT172 IFT43
6 digestive/alimentary MP:0005381 9.91 IFT122 IFT140 IFT172 IFT88 WDR19 WDR35
7 limbs/digits/tail MP:0005371 9.87 IFT122 IFT140 IFT172 IFT88 TTC21B WDR19
8 respiratory system MP:0005388 9.63 ASB7 CACNA1H IFT140 IFT172 IFT88 WDR35
9 skeleton MP:0005390 9.5 CACNA1H IFT140 IFT172 IFT88 TTC21B WDR19
10 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, Retina, Liver, Pancreas, Cerebellum

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 57
28288023 2017
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. 57 6
28724397 2017
3
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. 6 57
23418020 2013
4
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 57 6
22503633 2012
5
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 57
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. 57
24183451 2013
10
Ciliary disorder of the skeleton. 57
22791528 2012
11
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. 57
17853467 2007
12
Hereditary sclerosing glomerulopathy in the conorenal syndrome. 57
7747734 1995
13
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes. 57
431989 1979
14
Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis. 57
1008584 1976
15
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. 57
1008585 1976
16
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. 57
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:

6 (show top 50) (show all 410)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT140 NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) SNV Pathogenic 97052 rs431905520 16:1568321-1568321 16:1518320-1518320
2 IFT140 NM_014714.4(IFT140):c.853_856TTGA[1] (p.Ile286fs) Microsatellite Pathogenic 31682 rs431905506 16:1637976-1637979 16:1587975-1587978
3 IFT140 NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) SNV Pathogenic 31681 rs387907193 16:1637276-1637276 16:1587275-1587275
4 IFT140 NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) SNV Pathogenic 446316 rs1555486629 16:1608057-1608057 16:1558056-1558056
5 IFT140 NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) SNV Pathogenic 523184 rs1555491448 16:1634258-1634258 16:1584257-1584257
6 IFT140 NM_014714.4(IFT140):c.2577+25G>A SNV Pathogenic 523178 rs1423102192 16:1576595-1576595 16:1526594-1526594
7 IFT140 NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) SNV Pathogenic 523179 rs1403669200 16:1642505-1642505 16:1592504-1592504
8 IFT140 NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) SNV Pathogenic 580815 rs140039128 16:1633370-1633370 16:1583369-1583369
9 IFT140 NM_014714.4(IFT140):c.3192del (p.Glu1065fs) Deletion Pathogenic 803144 rs1567327347 16:1573907-1573907 16:1523906-1523906
10 IFT140 NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) SNV Pathogenic 949617 16:1652500-1652500 16:1602499-1602499
11 IFT140 NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) SNV Pathogenic 489108 rs1002670900 16:1569983-1569983 16:1519982-1519982
12 IFT140 NM_014714.4(IFT140):c.3981del (p.Arg1328fs) Deletion Pathogenic 949370 16:1569941-1569941 16:1519940-1519940
13 IFT140 NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) SNV Pathogenic 931217 16:1642253-1642253 16:1592252-1592252
14 IFT140 NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del Deletion Pathogenic 523183 16:1652593-1657268 16:1602592-1607267
15 IFT140 GRCh37/hg19 16p13.3(chr16:1557663-1561126) copy number loss Pathogenic 625674 16:1557663-1561126
16 IFT140 GRCh37/hg19 16p13.3(chr16:1568217-1570809) copy number loss Pathogenic 813315 16:1568217-1570809
17 IFT140 NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) SNV Pathogenic 620349 rs1567330535 16:1576000-1576000 16:1525999-1525999
18 IFT140 NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) SNV Pathogenic 974394 16:1637233-1637233 16:1587232-1587232
19 IFT140 NM_014714.4:c.(?_-1)_(*1_?)del Deletion Pathogenic 974558
20 IFT140 NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) SNV Pathogenic 31679 rs387907192 16:1614075-1614075 16:1564074-1564074
21 IFT140 NM_014714.4(IFT140):c.2399+1G>T SNV Pathogenic 31680 rs376586707 16:1607935-1607935 16:1557934-1557934
22 IFT140 NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) Indel Pathogenic 970601 16:1574834-1574838 16:1524833-1524837
23 IFT140 NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) Duplication Pathogenic 31684 rs587776909 16:1570005-1570006 16:1520004-1520005
24 IFT140 NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV Pathogenic 97053 rs431905521 16:1637962-1637962 16:1587961-1587961
25 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 16:1565628-1565629 16:1515627-1515628
26 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 16:1565628-1565629 16:1515627-1515628
27 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 16:1565628-1565629 16:1515627-1515628
28 IFT140 NM_014714.4(IFT140):c.3141+1G>T SNV Pathogenic 523180 rs764770536 16:1574552-1574552 16:1524551-1524551
29 IFT140 NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) SNV Pathogenic 523181 rs1417500285 16:1612008-1612008 16:1562007-1562007
30 IFT140 NM_014714.4(IFT140):c.874G>A (p.Val292Met) SNV Pathogenic 97053 rs431905521 16:1637962-1637962 16:1587961-1587961
31 IFT140 NM_014714.4(IFT140):c.3454-1003_4040+737delinsC Indel Pathogenic 523185 16:1569145-1571812 16:1519144-1521811
32 IFT140 NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) SNV Pathogenic 438181 rs773372123 16:1637210-1637210 16:1587209-1587209
33 IFT140 NM_014714.4(IFT140):c.1010-1G>A SNV Pathogenic 280884 rs770185023 16:1636277-1636277 16:1586276-1586276
34 IFT140 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV Pathogenic 31683 rs201188361 16:1642177-1642177 16:1592176-1592176
35 WDR19 NM_025132.4(WDR19):c.1442A>G (p.His481Arg) SNV Pathogenic 974369 4:39219688-39219688 4:39218068-39218068
36 WDR19 NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) SNV Pathogenic 974371 4:39254777-39254777 4:39253157-39253157
37 IFT140 NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) SNV Pathogenic/Likely pathogenic 31683 rs201188361 16:1642177-1642177 16:1592176-1592176
38 IFT140 NM_014714.4(IFT140):c.1525-1G>A SNV Likely pathogenic 974844 16:1621536-1621536 16:1571535-1571535
39 IFT140 NM_014714.4(IFT140):c.634+5G>A SNV Likely pathogenic 866080 16:1642172-1642172 16:1592171-1592171
40 IFT140 NM_014714.4(IFT140):c.370-3_370-1delinsAA Indel Likely pathogenic 969462 16:1642590-1642592 16:1592589-1592591
41 IFT140 NM_014714.4(IFT140):c.3874-1G>A SNV Likely pathogenic 961146 16:1570049-1570049 16:1520048-1520048
42 IFT140 NM_014714.4(IFT140):c.148-2A>G SNV Likely pathogenic 963041 16:1652594-1652594 16:1602593-1602593
43 IFT140 NM_014714.4(IFT140):c.1901+1G>T SNV Likely pathogenic 939285 16:1616161-1616161 16:1566160-1566160
44 IFT140 NM_014714.4(IFT140):c.2767_2768+2del Deletion Likely pathogenic 863072 16:1575886-1575889 16:1525885-1525888
45 IFT140 NM_014714.4(IFT140):c.1167del (p.Lys390fs) Deletion Likely pathogenic 225390 rs1085307074 16:1634410-1634410 16:1584409-1584409
46 IFT140 NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) SNV Conflicting interpretations of pathogenicity 632246 rs770731272 16:1614106-1614106 16:1564105-1564105
47 IFT140 NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) SNV Conflicting interpretations of pathogenicity 97054 rs199826737 16:1621495-1621495 16:1571494-1571494
48 IFT140 NM_014714.4(IFT140):c.3271-4G>A SNV Conflicting interpretations of pathogenicity 318014 rs200815296 16:1573705-1573705 16:1523704-1523704
49 IFT140 NM_014714.4(IFT140):c.2424G>A (p.Ala808=) SNV Conflicting interpretations of pathogenicity 318057 rs375979698 16:1576773-1576773 16:1526772-1526772
50 IFT140 NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) SNV Conflicting interpretations of pathogenicity 282935 rs141993139 16:1639658-1639658 16:1589657-1589657

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 12)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.06 WDR35 WDR19 TTC21B IFT88 IFT43 IFT140
2 cell projection GO:0042995 9.97 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
3 cilium GO:0005929 9.76 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
4 photoreceptor connecting cilium GO:0032391 9.73 WDR19 IFT140 IFT122 CFAP410
5 ciliary basal body GO:0036064 9.73 WDR35 IFT88 IFT172 IFT140 IFT122 CFAP410
6 centriole GO:0005814 9.69 IFT88 IFT140 CCDC78
7 non-motile cilium GO:0097730 9.67 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 intraciliary transport particle B GO:0030992 9.49 IFT88 IFT172
11 intraciliary transport particle A GO:0030991 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
12 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 14)
# 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 9.63 WDR19 TTC21B IFT172
7 regulation of smoothened signaling pathway GO:0008589 9.61 TTC21B IFT172 IFT140
8 regulation of cilium assembly GO:1902017 9.54 IFT88 IFT140
9 limb development GO:0060173 9.52 IFT172 IFT122
10 embryonic cranial skeleton morphogenesis GO:0048701 9.51 WDR19 IFT140
11 negative regulation of smoothened signaling pathway GO:0045879 9.49 IFT172 IFT122
12 embryonic camera-type eye development GO:0031076 9.48 WDR19 IFT140
13 intraciliary retrograde transport GO:0035721 9.43 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
14 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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