BHLHA9 gene related symptoms and diseases
All the information presented here about the BHLHA9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BHLHA9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Syndactyly | Very Common - Between 80% and 100% cases |
| Short hallux | Common - Between 50% and 80% cases |
| Camptodactyly | Common - Between 50% and 80% cases |
| Finger syndactyly | Common - Between 50% and 80% cases |
| Toe syndactyly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with BHLHA9 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Small nail
- Cutaneous syndactyly
Not very common - Between 30% and 50% cases
- Brachydactyly
- Short palm
- Single transverse palmar crease
- Short thumb
- Finger clinodactyly
- 2-3 toe syndactyly
And 43 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BHLHA9 gene
Here you will find a list of rare diseases related to the BHLHA9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TIBIAL APLASIA-ECTRODACTYLY SYNDROME
Alternate names
TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones, tibial hemimelia-ectrodactyly syndrome, tibial hemimelia with split hand/foot malformation, shfm associated with aplasia of long bones, tibial aplasia with split-hand/split-foot deformity, cle
Description
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.
Most common symptoms of TIBIAL APLASIA-ECTRODACTYLY SYNDROME
- Brachydactyly
- Talipes equinovarus
- Syndactyly
- Camptodactyly
- Finger syndactyly
More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME
MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION
Alternate names
MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION Is also known as syndactyly, malik-percin type, mssd, syndactyly, type ix, syndactyly type 9
Description
Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Most common symptoms of MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION
- Pain
- Syndactyly
- Clinodactyly
- Clinodactyly of the 5th finger
- Finger syndactyly
More info about MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION
CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD
Alternate names
CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD Is also known as camptopolydactyly, disorganization type
Most common symptoms of CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD
- Syndactyly
- Polydactyly
- Camptodactyly
- Toe syndactyly
- Small nail
More info about CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD
Search interest in BHLHA9
Potential gene panels for BHLHA9 gene
Mesoaxial synostotic syndactyly with phalangeal reduction (sequence analysis of BHLHA9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the BHLHA9 gene.
More info about this panel Portugal.
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via BHLHA9 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BHLHA9 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.
Syndactyly, mesoaxial synostotic, with phalangeal reduction Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the BHLHA9 gene.
More info about this panel Germany.
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.
BHLHA9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BHLHA9 gene.
More info about this panel United States.
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.
Limb Malformations Panel Panel
Finland.
By Blueprint Genetics Limb Malformations Panel that also includes the following genes: SALL1 SF3B4 BRCA2 SMC1A TBX3 TBX5 WNT7A XRCC2 HDAC8 NSDHL
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.
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