WNT1 gene related symptoms and diseases

All the information presented here about the WNT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to WNT1 gene

Symptoms // Phenotype % Cases
Recurrent fractures Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Blue sclerae Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with WNT1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hearing impairment
  • Bowing of limbs due to multiple fractures
  • Dentinogenesis imperfecta
  • Vertebral compression fractures
  • Wormian bones
  • Increased susceptibility to fractures
  • Osteoporosis
  • Rarely - Less than 30% cases

  • Gait disturbance

And 45 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to WNT1 gene

Here you will find a list of rare diseases related to the WNT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OSTEOGENESIS IMPERFECTA TYPE 3


Alternate names

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta, osteogenesis imperfecta, progressively deforming, with normal sclerae, progressive deforming osteogenesis imperfecta, oi type 3, oi, type iii

Description

Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 3

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


More info about OSTEOGENESIS IMPERFECTA TYPE 3

SOURCES: MESH OMIM ORPHANET

OSTEOGENESIS IMPERFECTA TYPE 4


Alternate names

OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae, oi type 4, oi, type iv

Description

Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).

Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 4

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Kyphosis
  • Bruising susceptibility


More info about OSTEOGENESIS IMPERFECTA TYPE 4

SOURCES: OMIM ORPHANET MESH

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15


Alternate names

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Description

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

Most common symptoms of OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

SOURCES: OMIM

IDIOPATHIC JUVENILE OSTEOPOROSIS


Alternate names

IDIOPATHIC JUVENILE OSTEOPOROSIS Is also known as idiopathic juvenile osteoporosis, juvenile osteoporosis, ijo

Description

Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.

Most common symptoms of IDIOPATHIC JUVENILE OSTEOPOROSIS

  • Pain
  • Gait disturbance
  • Kyphosis
  • Osteoporosis
  • Recurrent fractures


More info about IDIOPATHIC JUVENILE OSTEOPOROSIS

SOURCES: OMIM MESH ORPHANET

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16


Alternate names

BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16 Is also known as osteoporosis, early-onset, susceptibility to

Most common symptoms of BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16

  • Osteoporosis
  • Recurrent fractures


More info about BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16

SOURCES: OMIM


Potential gene panels for WNT1 gene

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Osteogenesis imperfecta (NGS panel for 16 genes) that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP

More info about this panel

Osteogenesis Imperfecta via WNT1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the WNT1 gene.

More info about this panel

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

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

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta NGS panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

WNT1-related osteogenesis imperfecta Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the WNT1 gene.

More info about this panel

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

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Chondrodysplasia punctata Panel Panel

Germany.

By CeGaT GmbH Chondrodysplasia punctata Panel that also includes the following genes: BMP1 TNFRSF11B WNT1 SERPINH1 IFITM5 SP7 FKBP10 ATP6V0A2 P3H1 COL1A2

More info about this panel

WNT1 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the WNT1 gene.

More info about this panel

OI panel 2 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital OI panel 2 that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 XYLT2 SP7 B3GALT6 FKBP10

More info about this panel

NGS panel - Osteogenesis Imperfecta and related disorders Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Osteogenesis Imperfecta and related disorders that also includes the following genes: BMP1 WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1 COL1A2 CRTAP

More info about this panel

WNT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the WNT1 gene.

More info about this panel

Osteogenesis Imperfecta Panel Panel

Finland.

By Blueprint Genetics Osteogenesis Imperfecta Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

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

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

Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel

United States.

By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10

More info about this panel

CNS Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis CNS Tumor Gene Set that also includes the following genes: SHH BRAF SMARCA4 SMARCB1 SMO TERT MED12 TP53 WNT1 WT1

More info about this panel

OSTEOGENESIS IMPERFECTA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA NGS PANEL that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL OSTEOGENESIS IMPERFECTA (AUTOSOMAL RECESSIVE) that also includes the following genes: BMP1 WNT1 SERPINH1 SP7 FKBP10 P3H1 CRTAP SERPINF1 PPIB

More info about this panel

Osteogenesis Imperfecta Type XV , Sequencing WNT1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the WNT1 gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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