IFT172 gene related symptoms and diseases
All the information presented here about the IFT172 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IFT172 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Obesity | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Polydactyly | Uncommon - Between 30% and 50% cases |
| Brachydactyly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IFT172 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Postaxial hand polydactyly
- Blindness
- Renal insufficiency
- Respiratory insufficiency
Rarely - Less than 30% cases
- Rod-cone dystrophy
- Cleft lip
- Oral cleft
- Stage 5 chronic kidney disease
And 147 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IFT172 gene
Here you will find a list of rare diseases related to the IFT172. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JEUNE SYNDROME
Alternate names
JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn, jatd, jeune asphyxiating thoracic dystrophy
Description
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Most common symptoms of JEUNE SYNDROME
- Short stature
- Brachydactyly
- Respiratory insufficiency
- Renal insufficiency
- Skeletal dysplasia
More info about JEUNE SYNDROME
SOURCES: ORPHANET
SALDINO-MAINZER SYNDROME
Alternate names
SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome, conorenal syndrome
Description
Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
Most common symptoms of SALDINO-MAINZER SYNDROME
- Short stature
- Cryptorchidism
- Delayed speech and language development
- Brachydactyly
- Respiratory insufficiency
More info about SALDINO-MAINZER SYNDROME
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
Description
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 (OMIM ).
Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
- Intellectual disability
- Short stature
- Hepatomegaly
- Brachydactyly
- Abnormality of the skeletal system
More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10
SOURCES: OMIM
BARDET-BIEDL SYNDROME
Alternate names
BARDET-BIEDL SYNDROME Is also known as bbs
Description
Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.
Most common symptoms of BARDET-BIEDL SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Nystagmus
- Cryptorchidism
More info about BARDET-BIEDL SYNDROME
SOURCES: ORPHANET
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
GASTROINTESTINAL STROMAL TUMOR
Alternate names
GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist
Description
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.
Most common symptoms of GASTROINTESTINAL STROMAL TUMOR
- Neoplasm
- Pain
- Anemia
- Fever
- Fatigue
More info about GASTROINTESTINAL STROMAL TUMOR
RETINITIS PIGMENTOSA 71; RP71
Most common symptoms of RETINITIS PIGMENTOSA 71; RP71
- Scoliosis
- Delayed speech and language development
- Abnormality of the skeletal system
- Edema
- Blindness
More info about RETINITIS PIGMENTOSA 71; RP71
SOURCES: OMIM
Search interest in IFT172
Potential gene panels for IFT172 gene
Bardet-Biedl Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Sequencing Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panel United States.
Monogenic Obesity Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
Joubert/Meckel-Gruber syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Nephronophthisis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Nephronophthisis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Bardet-Biedl Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Bardet-Biedl Syndrome Deletion/Duplication Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 BBS7 TTC8 IFT74 BBS10 BBS12 WDPCP CEP290
More info about this panel United States.
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Monogenic Obesity Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8
More info about this panel United States.
IFT172 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the IFT172 gene.
More info about this panel Germany.
Ellis Van Creveld syndrome (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Ellis Van Creveld syndrome (NGS panel for 12 genes) that also includes the following genes: WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1 IFT172
More info about this panel Portugal.
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B CSPP1 CEP120 WDR34 IFT140 WDR35
More info about this panel Portugal.
Short-rib thoracic dysplasia with or without polydactyly 10 (sequence analysis of IFT172 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IFT172 gene.
More info about this panel Portugal.
Short-rib thoracic dysplasia with or without polydactyly 10 (sequence analysis of IFT172 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IFT172 gene.
More info about this panel Portugal.
Bardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Bardet-Biedl Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 IFT74 BBS10 BBS12 C8orf37
More info about this panel United States.
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Skeletal dysplasia ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Deletion / Duplication panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Skeletal dysplasia ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy NGS panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Skeletal dysplasia ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Comprehensive panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Bardet Biedl Syndrome Panel Panel
Germany.
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panel Germany.
Bardet Biedl Syndrome Panel Panel
Germany.
By CeGaT GmbH Bardet Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panel Germany.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel Germany.
Bardet-Biedl Syndrome Panel Panel
Germany.
By CeGaT GmbH Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 TTC21B BBS10 BBS12 WDPCP
More info about this panel Germany.
Short-rib dysplasia Panel Panel
Germany.
By CeGaT GmbH Short-rib dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1
More info about this panel Germany.
Skeletal Ciliopathies Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Bardet-Biedl syndrome panel Panel
United States.
By Molecular Vision Laboratory Bardet-Biedl syndrome panel that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 INPP5E BBS10 BBS12 C8orf37
More info about this panel United States.
Joubert Syndrome Panel Panel
United States.
By Molecular Vision Laboratory Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TCTN3 TMEM216 ARL13B TTC21B OFD1
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Invitae Nephronophthisis Panel Panel
United States.
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
Invitae Skeletal Ciliopathies Panel Panel
United States.
By Invitae Invitae Skeletal Ciliopathies Panel that also includes the following genes: IFT122 WDR19 EVC2 KIAA0586 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34
More info about this panel United States.
IFT172 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IFT172 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Nephronophthisis Panel Panel
Finland.
By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Finland.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 WDR34 IFT140 WDR35
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Bardet-Biedl Syndrome Panel Panel
Finland.
By Blueprint Genetics Bardet-Biedl Syndrome Panel that also includes the following genes: SDCCAG8 ARL6 PNPLA6 TRIM32 BBS7 TTC8 BBS10 BBS12 C8orf37 WDPCP
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
BARDET-BIEDL SYNDROME (NGS) Panel
Spain.
By Laboratorio de Genetica Clinica SL BARDET-BIEDL SYNDROME (NGS) that also includes the following genes: SDCCAG8 ARL6 TRIM32 IFT27 BBS7 TTC8 BBS10 BBS12 WDPCP BBIP1
More info about this panel Spain.
JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34 IFT140
More info about this panel Spain.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
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