NOG gene related symptoms and diseases
All the information presented here about the NOG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NOG gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Brachydactyly | Very Common - Between 80% and 100% cases |
| Tarsal synostosis | Common - Between 50% and 80% cases |
| Carpal synostosis | Common - Between 50% and 80% cases |
| Proximal symphalangism | Common - Between 50% and 80% cases |
| Short 1st metacarpal | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NOG gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Proximal symphalangism of hands
- Distal symphalangism of hands
Not very common - Between 30% and 50% cases
- Conductive hearing impairment
- Aplasia/Hypoplasia of the middle phalanges of the hand
- Hearing impairment
- Broad thumb
- Synostosis of carpal bones
- Ankylosis
And 130 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NOG gene
Here you will find a list of rare diseases related to the NOG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRACHYDACTYLY TYPE B2
Description
Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Most common symptoms of BRACHYDACTYLY TYPE B2
- Sensorineural hearing impairment
- Brachydactyly
- Syndactyly
- Finger syndactyly
- Hypermetropia
More info about BRACHYDACTYLY TYPE B2
BRACHYDACTYLY, TYPE B1; BDB1
Alternate names
BRACHYDACTYLY, TYPE B1; BDB1 Is also known as bdb, brachydactyly, type b
Most common symptoms of BRACHYDACTYLY, TYPE B1; BDB1
- Sensorineural hearing impairment
- Brachydactyly
- Ventricular septal defect
- Syndactyly
- Micropenis
More info about BRACHYDACTYLY, TYPE B1; BDB1
SOURCES: OMIM
MULTIPLE SYNOSTOSES SYNDROME
Alternate names
MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome, facio-audio-symphalangism, symphalangism-brachydactyly syndrome, deafness-hermann type symphalangism syndrome
Description
Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.
Most common symptoms of MULTIPLE SYNOSTOSES SYNDROME
- Brachydactyly
- Conductive hearing impairment
- Joint stiffness
- Facial asymmetry
- Short palm
More info about MULTIPLE SYNOSTOSES SYNDROME
SOURCES: ORPHANET
SILLENCE SYNDROME
Alternate names
SILLENCE SYNDROME Is also known as synostoses, multiple, with brachydactyly, symphalangism-brachydactyly syndrome, wl syndrome, brachydactyly-symphalangism syndrome, facioaudiosymphalangism syndrome, deafness-symphalangism syndrome of herrmann
Description
Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.
Most common symptoms of SILLENCE SYNDROME
- Hearing impairment
- Scoliosis
- Strabismus
- Epicanthus
- Brachydactyly
More info about SILLENCE SYNDROME
BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
Most common symptoms of BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
- Pes cavus
- Thin upper lip vermilion
- Camptodactyly of finger
- Single transverse palmar crease
- Tall stature
More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME
SOURCES: OMIM
PROXIMAL SYMPHALANGISM
Alternate names
PROXIMAL SYMPHALANGISM Is also known as symphalangism, cushing type
Description
Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.
Most common symptoms of PROXIMAL SYMPHALANGISM
- Strabismus
- Sensorineural hearing impairment
- Brachydactyly
- Clinodactyly of the 5th finger
- Pes planus
More info about PROXIMAL SYMPHALANGISM
SYMPHALANGISM, PROXIMAL, 1A; SYM1A
Alternate names
SYMPHALANGISM, PROXIMAL, 1A; SYM1A Is also known as cushing symphalangism, sym1, hereditary absence of the proximal interphalangeal joints
Description
Proximal symphalangism-1A (SYM1A) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness (Strasburger et al., 1965).
Most common symptoms of SYMPHALANGISM, PROXIMAL, 1A; SYM1A
- Short stature
- Hearing impairment
- Brachydactyly
- Conductive hearing impairment
- Abnormality of the hand
More info about SYMPHALANGISM, PROXIMAL, 1A; SYM1A
SOURCES: OMIM
TARSAL-CARPAL COALITION SYNDROME
Description
Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Most common symptoms of TARSAL-CARPAL COALITION SYNDROME
- Short stature
- Hearing impairment
- Brachydactyly
- Clinodactyly
- Abnormality of the hand
More info about TARSAL-CARPAL COALITION SYNDROME
STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
Alternate names
STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES Is also known as teunissen-cremers syndrome, ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly, stapes ankylosis syndrome without symphalangism
Description
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.
Most common symptoms of STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
- Hearing impairment
- Brachydactyly
- Abnormality of the skeletal system
- Syndactyly
- Conductive hearing impairment
More info about STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
Search interest in NOG
Potential gene panels for NOG gene
Congenital Limb Malformation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Limb Malformation Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B SF3B4 FBXW4 SHH BRCA2 SOX9 TBX15
More info about this panel United States.
Symphalangism, Proximal, Multiple Synostoses Syndrome, Stapes Ankylosis with Broad Thumb and Toes, Tarsal-Carpal Coalition Syndrome, and Brachydactyly, Type B2 via NOG Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NOG gene.
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Brachydactyly, Type B2 Panel
United States.
By Michigan Medical Genetics Laboratories University of Michigan
This panel specifically test the NOG gene.
More info about this panel United States.
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel Panel
Germany.
By CeGaT GmbH Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B WNT10B WNT7A LMBR1 TP63 TRPV4 BHLHA9 FBLN1
More info about this panel Germany.
Brachydactyly B2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
Brachydactyly B2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
Multiple synostosis syndrome 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
Stapes ankylosis with broad thumb and toes Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
Tarsal-carpal coalition syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
Symphalangism, proximal Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NOG gene.
More info about this panel Austria.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Brachydactyly B2 Panel
Slovakia.
By MedGene
This panel specifically test the NOG gene.
More info about this panel Slovakia.
Multiple synostosis syndrome 1 Panel
Slovakia.
By MedGene
This panel specifically test the NOG gene.
More info about this panel Slovakia.
Tarsal-carpal coalition syndrome Panel
Slovakia.
By MedGene
This panel specifically test the NOG gene.
More info about this panel Slovakia.
Stapes ankylosis with broad thumb and toes Panel
Slovakia.
By MedGene
This panel specifically test the NOG gene.
More info about this panel Slovakia.
Symphalangism, proximal Panel
Slovakia.
By MedGene
This panel specifically test the NOG gene.
More info about this panel Slovakia.
Brachydactyly type B2: NOG gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NOG gene.
More info about this panel Spain.
Limb Malformation: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb Malformation: Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP2 BMPR1B FBXW4 SHH SOX9 TBX15 TBX3 TBX5
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
NOG Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NOG gene.
More info about this panel United States.
Brachydactyly / Syndactyly Panel Panel
Finland.
By Blueprint Genetics Brachydactyly / Syndactyly Panel that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TP63 CHSY1 ESCO2 CCNQ DHCR7 GDF5
More info about this panel Finland.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
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.
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.
Brachydactyly, type B2 Panel
Spain.
By Bioarray
This panel specifically test the NOG gene.
More info about this panel Spain.
BRACHYDACTYLY TYPE B2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NOG gene.
More info about this panel Spain.
SYNOSTOSIS, MULTIPLE Panel
Spain.
By Laboratorio de Genetica Clinica SL SYNOSTOSIS, MULTIPLE that also includes the following genes: FGF9 GDF5 NOG
More info about this panel Spain.
Brachydactyly Type B2, Sequencing NOG Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NOG gene.
More info about this panel Spain.
Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Multiple Synostosis Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: TTR FGF9 FLNB GDF5 HOXA11 NOG
More info about this panel Spain.
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: ROR2 BMP2 BMPR1B SOX9 TBX15 WNT7A TP63 CHSY1 ESCO2 GDF5
More info about this panel Spain.
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