WDR60 gene related symptoms and diseases
All the information presented here about the WDR60 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WDR60 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Narrow chest | Very Common - Between 80% and 100% cases |
| Respiratory insufficiency | Very Common - Between 80% and 100% cases |
| Brachydactyly | Common - Between 50% and 80% cases |
| Ambiguous genitalia | Common - Between 50% and 80% cases |
| Postaxial hand polydactyly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with WDR60 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the metaphysis
- Short stature
- Short foot
- Short ribs
- Pulmonary hypoplasia
- Micromelia
- Short thorax
- Depressed nasal bridge
And 67 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WDR60 gene
Here you will find a list of rare diseases related to the WDR60. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE
Alternate names
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE Is also known as short rib-polydactyly syndrome type 3
Description
Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.
Most common symptoms of SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE
- Micrognathia
- Cataract
- Cryptorchidism
- Depressed nasal bridge
- Epicanthus
More info about SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE
SOURCES: ORPHANET
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
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8
Alternate names
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6, short rib-polydactyly syndrome, type vi
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 8 WITH OR WITHOUT POLYDACTYLY; SRTD8
- Short stature
- Failure to thrive
- Depressed nasal bridge
- Hepatomegaly
- Brachydactyly
More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8
SOURCES: OMIM
Search interest in WDR60
Potential gene panels for WDR60 gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
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 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.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
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.
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.
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.
qGenEx Sex development disorders Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1
More info about this panel Spain.
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.
WDR60 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WDR60 gene.
More info about this panel United States.
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.
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.
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.
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.
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