SRTD9
MCID: SHR075
MIFTS: 43

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 75 15
Mainzer-Saldino Syndrome 57 25 75 13 40
Conorenal Syndrome 57 53 25 59 75
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 12 53 29 6
Srtd9 57 12 25 75
Saldino-Mainzer Syndrome 53 25 59
Mainzer-Saldino Disease 25 75 73
Mzsds 57 25 75
Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, and Skeletal Dysplasia 57 25
Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome 59
Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia and Skeletal Dysplasia 75
Mainzer-Saldino Chondrodysplasia 25
Mainzer-Saldino Syndrome; Mzsds 57
Short-Rib Thoracic Dysplasia 9 25
Saldino-Mainzer Dysplasia 25
Mainzer Saldino Syndrome 53
Conorenal Dysplasia 25
Mss 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable manifestations


HPO:

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


Classifications:



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

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)

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

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

Genetics Home Reference : 25 Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 140969Disease definitionSaldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.EpidemiologyAround 10 cases have been described in the literature so far.Clinical descriptionMild to moderate short stature has also been reported. Radiologic studies reveal shortened phalanges with cone-shaped epiphysis. Femoral epiphyseal and metaphyseal anomalies are common.Genetic counselingThe syndrome is transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 75 Short-rib thoracic dysplasia 9 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.

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

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

Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 1 with or without polydactyly 31.8 IFT140 IFT172
2 marinesco-sjogren syndrome 12.0
3 short-rib thoracic dysplasia 6 with or without polydactyly 11.5
4 short-rib thoracic dysplasia 12 11.5
5 short-rib thoracic dysplasia 2 with or without polydactyly 11.5
6 short-rib thoracic dysplasia 3 with or without polydactyly 11.5
7 short-rib thoracic dysplasia 4 with or without polydactyly 11.5
8 short-rib thoracic dysplasia 7 with or without polydactyly 11.5
9 short-rib thoracic dysplasia 5 with or without polydactyly 11.5
10 short-rib thoracic dysplasia 8 with or without polydactyly 11.5
11 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
12 short-rib thoracic dysplasia 11 with or without polydactyly 11.5
13 short-rib thoracic dysplasia 14 with polydactyly 11.5
14 short-rib thoracic dysplasia 15 with polydactyly 11.5
15 short-rib thoracic dysplasia 16 with or without polydactyly 11.5
16 short-rib thoracic dysplasia 17 with or without polydactyly 11.5
17 short-rib thoracic dysplasia 18 with polydactyly 11.5
18 short-rib thoracic dysplasia 19 with or without polydactyly 11.5
19 short-rib thoracic dysplasia 20 with polydactyly 11.5
20 mesomelia-synostoses syndrome 11.4
21 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
22 marshall-smith syndrome 11.1
23 multiple synostoses syndrome 1 11.1
24 congenital cataracts, facial dysmorphism, and neuropathy 11.1
25 nephronophthisis 10.5
26 colorectal cancer 10.4
27 retinitis pigmentosa 10.4
28 leber congenital amaurosis 4 10.4
29 retinitis 10.4
30 juvenile nephronophthisis 10.4
31 basal cell carcinoma 1 10.1
32 basal cell carcinoma 10.1
33 fascioliasis 10.1
34 cleft lip/palate 9.8 IFT140 IFT172
35 joubert syndrome 1 9.7 IFT140 IFT172

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

Symptoms via clinical synopsis from OMIM:

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

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

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

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

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


cerebellar ataxia, unspecified visual loss

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

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

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

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

# Genetic test Affiliating Genes
1 Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia 29 IFT140

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

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

41
Kidney, Eye, Bone, Brain, Liver, 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:

# Title Authors Year
1
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. ( 30479745 )
2018
2
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. ( 28724397 )
2017
3
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. ( 22503633 )
2012

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

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

75
# Symbol AA change Variation ID SNP ID
1 IFT140 p.Gly212Arg VAR_068523 rs201188361
2 IFT140 p.Ile233Met VAR_068524
3 IFT140 p.Val292Met VAR_068525 rs431905521
4 IFT140 p.Tyr311Cys VAR_068526 rs387907193
5 IFT140 p.Gly522Glu VAR_068527 rs199826737
6 IFT140 p.Arg576Gln VAR_068528 rs373111085
7 IFT140 p.Leu152Phe VAR_071000 rs140366920
8 IFT140 p.Glu267Gly VAR_071003
9 IFT140 p.Cys1360Arg VAR_071008 rs431905520
10 IFT140 p.Arg280Trp VAR_078817 rs8058674

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

6 (show top 50) (show all 312)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh37 Chromosome 16, 1614075: 1614075
2 IFT140 NM_014714.3(IFT140): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic rs387907192 GRCh38 Chromosome 16, 1564074: 1564074
3 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh37 Chromosome 16, 1607935: 1607935
4 IFT140 NM_014714.3(IFT140): c.2399+1G> T single nucleotide variant Pathogenic rs376586707 GRCh38 Chromosome 16, 1557934: 1557934
5 IFT140 NM_014714.3(IFT140): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs387907193 GRCh37 Chromosome 16, 1637276: 1637276
6 IFT140 NM_014714.3(IFT140): c.932A> G (p.Tyr311Cys) single nucleotide variant Pathogenic rs387907193 GRCh38 Chromosome 16, 1587275: 1587275
7 IFT140 NM_014714.3(IFT140): c.857_860delTTGA (p.Ile286Lysfs) deletion Pathogenic rs431905506 GRCh37 Chromosome 16, 1637976: 1637979
8 IFT140 NM_014714.3(IFT140): c.857_860delTTGA (p.Ile286Lysfs) deletion Pathogenic rs431905506 GRCh38 Chromosome 16, 1587975: 1587978
9 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh37 Chromosome 16, 1642177: 1642177
10 IFT140 NM_014714.3(IFT140): c.634G> A (p.Gly212Arg) single nucleotide variant Pathogenic rs201188361 GRCh38 Chromosome 16, 1592176: 1592176
11 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh38 Chromosome 16, 1520005: 1520005
12 IFT140 NM_014714.3(IFT140): c.3916dupG (p.Ala1306Glyfs) duplication Pathogenic rs587776909 GRCh37 Chromosome 16, 1570006: 1570006
13 IFT140 NM_014714.3(IFT140): c.4078T> C (p.Cys1360Arg) single nucleotide variant Pathogenic rs431905520 GRCh37 Chromosome 16, 1568321: 1568321
14 IFT140 NM_014714.3(IFT140): c.4078T> C (p.Cys1360Arg) single nucleotide variant Pathogenic rs431905520 GRCh38 Chromosome 16, 1518320: 1518320
15 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh37 Chromosome 16, 1637962: 1637962
16 IFT140 NM_014714.3(IFT140): c.874G> A (p.Val292Met) single nucleotide variant Pathogenic rs431905521 GRCh38 Chromosome 16, 1587961: 1587961
17 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh37 Chromosome 16, 1621495: 1621495
18 IFT140 NM_014714.3(IFT140): c.1565G> A (p.Gly522Glu) single nucleotide variant Pathogenic rs199826737 GRCh38 Chromosome 16, 1571494: 1571494
19 IFT140 NM_014714.3(IFT140): c.1192G> A (p.Val398Ile) single nucleotide variant Likely benign rs34762152 GRCh37 Chromosome 16, 1634385: 1634385
20 IFT140 NM_014714.3(IFT140): c.1192G> A (p.Val398Ile) single nucleotide variant Likely benign rs34762152 GRCh38 Chromosome 16, 1584384: 1584384
21 IFT140 NM_014714.3(IFT140): c.1968T> C (p.Ser656=) single nucleotide variant Benign rs8048410 GRCh37 Chromosome 16, 1614097: 1614097
22 IFT140 NM_014714.3(IFT140): c.1968T> C (p.Ser656=) single nucleotide variant Benign rs8048410 GRCh38 Chromosome 16, 1564096: 1564096
23 IFT140 NM_014714.3(IFT140): c.2253T> C (p.Pro751=) single nucleotide variant Benign rs2076436 GRCh37 Chromosome 16, 1608082: 1608082
24 IFT140 NM_014714.3(IFT140): c.2253T> C (p.Pro751=) single nucleotide variant Benign rs2076436 GRCh38 Chromosome 16, 1558081: 1558081
25 IFT140 NM_014714.3(IFT140): c.2919C> T (p.Ala973=) single nucleotide variant Benign rs2235640 GRCh37 Chromosome 16, 1574863: 1574863
26 IFT140 NM_014714.3(IFT140): c.2919C> T (p.Ala973=) single nucleotide variant Benign rs2235640 GRCh38 Chromosome 16, 1524862: 1524862
27 IFT140 NM_014714.3(IFT140): c.3209C> T (p.Ala1070Val) single nucleotide variant Benign rs2235638 GRCh37 Chromosome 16, 1573890: 1573890
28 IFT140 NM_014714.3(IFT140): c.3209C> T (p.Ala1070Val) single nucleotide variant Benign rs2235638 GRCh38 Chromosome 16, 1523889: 1523889
29 IFT140 NM_014714.3(IFT140): c.836G> C (p.Arg279Pro) single nucleotide variant Benign/Likely benign rs4786350 GRCh37 Chromosome 16, 1638000: 1638000
30 IFT140 NM_014714.3(IFT140): c.836G> C (p.Arg279Pro) single nucleotide variant Benign/Likely benign rs4786350 GRCh38 Chromosome 16, 1587999: 1587999
31 IFT140 NM_014714.3(IFT140): c.1336A> G (p.Ile446Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139619013 GRCh37 Chromosome 16, 1634241: 1634241
32 IFT140 NM_014714.3(IFT140): c.1336A> G (p.Ile446Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139619013 GRCh38 Chromosome 16, 1584240: 1584240
33 IFT140 NM_014714.3(IFT140): c.4040+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138364426 GRCh37 Chromosome 16, 1569872: 1569872
34 IFT140 NM_014714.3(IFT140): c.4040+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs138364426 GRCh38 Chromosome 16, 1519871: 1519871
35 IFT140 NM_014714.3(IFT140): c.3988G> A (p.Ala1330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200699325 GRCh37 Chromosome 16, 1569934: 1569934
36 IFT140 NM_014714.3(IFT140): c.3988G> A (p.Ala1330Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200699325 GRCh38 Chromosome 16, 1519933: 1519933
37 IFT140 NM_014714.3(IFT140): c.3991C> T (p.Gln1331Ter) single nucleotide variant Pathogenic rs794727473 GRCh37 Chromosome 16, 1569931: 1569931
38 IFT140 NM_014714.3(IFT140): c.3991C> T (p.Gln1331Ter) single nucleotide variant Pathogenic rs794727473 GRCh38 Chromosome 16, 1519930: 1519930
39 IFT140 NM_014714.3(IFT140): c.1167delG (p.Lys390Argfs) deletion Likely pathogenic rs1085307074 GRCh38 Chromosome 16, 1584409: 1584409
40 IFT140 NM_014714.3(IFT140): c.1167delG (p.Lys390Argfs) deletion Likely pathogenic rs1085307074 GRCh37 Chromosome 16, 1634410: 1634410
41 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh38 Chromosome 16, 1519961: 1519966
42 IFT140 NM_014714.3(IFT140): c.3955_3960delGCCAAG (p.Ala1319_Lys1320del) deletion Uncertain significance rs746697405 GRCh37 Chromosome 16, 1569962: 1569967
43 IFT140 NM_014714.3(IFT140): c.*2G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144879630 GRCh37 Chromosome 16, 1560943: 1560943
44 IFT140 NM_014714.3(IFT140): c.*2G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144879630 GRCh38 Chromosome 16, 1510942: 1510942
45 IFT140 NM_014714.3(IFT140): c.758G> A (p.Arg253Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141993139 GRCh37 Chromosome 16, 1639658: 1639658
46 IFT140 NM_014714.3(IFT140): c.758G> A (p.Arg253Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs141993139 GRCh38 Chromosome 16, 1589657: 1589657
47 IFT140 NM_014714.3(IFT140): c.2542C> T (p.Arg848Cys) single nucleotide variant Uncertain significance rs201384469 GRCh37 Chromosome 16, 1576655: 1576655
48 IFT140 NM_014714.3(IFT140): c.2542C> T (p.Arg848Cys) single nucleotide variant Uncertain significance rs201384469 GRCh38 Chromosome 16, 1526654: 1526654
49 IFT140 NM_014714.3(IFT140): c.1542C> A (p.Leu514=) single nucleotide variant Conflicting interpretations of pathogenicity rs141542834 GRCh37 Chromosome 16, 1621518: 1621518
50 IFT140 NM_014714.3(IFT140): c.1542C> A (p.Leu514=) single nucleotide variant Conflicting interpretations of pathogenicity rs141542834 GRCh38 Chromosome 16, 1571517: 1571517

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
11.88 IFT140 IFT172
2
Show member pathways
11.49 IFT140 IFT172
3 10.24 IFT140 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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.32 IFT140 IFT172
2 cilium GO:0005929 9.26 IFT140 IFT172
3 ciliary basal body GO:0036064 9.16 IFT140 IFT172
4 axoneme GO:0005930 8.96 IFT140 IFT172
5 ciliary tip GO:0097542 8.62 IFT140 IFT172

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.37 IFT140 IFT172
2 cilium assembly GO:0060271 9.32 IFT140 IFT172
3 determination of left/right symmetry GO:0007368 9.26 IFT140 IFT172
4 non-motile cilium assembly GO:1905515 9.16 IFT140 IFT172
5 intraciliary transport involved in cilium assembly GO:0035735 8.96 IFT140 IFT172
6 regulation of smoothened signaling pathway GO:0008589 8.62 IFT140 IFT172

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

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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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