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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: OMIM MESH


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

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

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

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

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

BHLHA9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BHLHA9 gene.

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

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

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


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