HOXD13 gene related symptoms and diseases

All the information presented here about the HOXD13 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 HOXD13 gene

Symptoms // Phenotype % Cases
Brachydactyly Common - Between 50% and 80% cases
Short distal phalanx of finger Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Finger syndactyly Uncommon - Between 30% and 50% cases
Short phalanx of finger Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HOXD13 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Intellectual disability
  • Clinodactyly of the 5th finger
  • Short middle phalanx of the 5th finger
  • Abnormality of the foot
  • Polydactyly
  • 4-5 toe syndactyly
  • 3-4 finger syndactyly
  • Camptodactyly

And 173 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HOXD13 gene

Here you will find a list of rare diseases related to the HOXD13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE


Description

Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.

Most common symptoms of BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

  • Brachydactyly
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly
  • Toe syndactyly


More info about BRACHYDACTYLY-SYNDACTYLY, ZHAO TYPE

SOURCES: ORPHANET MESH OMIM

BRACHYDACTYLY, TYPE D; BDD


Alternate names

BRACHYDACTYLY, TYPE D; BDD Is also known as stub thumb

Description

This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]

Most common symptoms of BRACHYDACTYLY, TYPE D; BDD

  • Brachydactyly
  • Short distal phalanx of finger
  • Short phalanx of finger
  • Broad distal phalanx of finger
  • Broad distal phalanx of the thumb


More info about BRACHYDACTYLY, TYPE D; BDD

SOURCES: OMIM MESH

BRACHYDACTYLY TYPE E


Alternate names

BRACHYDACTYLY TYPE E Is also known as bde, brachydactyly, type e

Description

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

Most common symptoms of BRACHYDACTYLY TYPE E

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


More info about BRACHYDACTYLY TYPE E

SOURCES: MESH OMIM ORPHANET

SYNPOLYDACTYLY TYPE 1


Alternate names

SYNPOLYDACTYLY TYPE 1 Is also known as syndactyly, type ii, synpolydactyly, vordingborg type, spd, vordingborg type, sd2a, sdty2, spd1, sd2, vordingborg type

Description

Synpolydactyly (SPD), or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).In some families with SPD, the foot anomalies are characterized by preaxial as well as postaxial polydactyly, and appear to be fully penetrant. The more severe features of classic SPD, involving 3/4 synpolydactyly in the hands and 4/5 synpolydactyly in the feet, also occur, but at reduced penetrance. This foot phenotype is not seen in patients with classic SPD due to HOXD13 polyalanine tract expansions (Goodman et al., 1998).Malik (2012) reviewed the syndactylies, noting that the extreme phenotypic heterogeneity observed in SPD families consists of approximately 18 clinical variants that can be 'lumped' into 3 categories: typical SPD features, minor variants, and unusual phenotypes. Genetic Heterogeneity of SynpolydactylySee also SPD2 (OMIM ), caused by mutation in the fibulin-1 gene (FBLN1 ) on chromosome 22q13, and SPD3 (OMIM ), which has been mapped to chromosome 14q11.2-q12.

Most common symptoms of SYNPOLYDACTYLY TYPE 1

  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Polydactyly


More info about SYNPOLYDACTYLY TYPE 1

SOURCES: ORPHANET OMIM

SYNDACTYLY TYPE 5


Alternate names

SYNDACTYLY TYPE 5 Is also known as sd5, postaxial syndactyly with metacarpal synostosis, syndactyly with metacarpal and metatarsal fusion

Description

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

Most common symptoms of SYNDACTYLY TYPE 5

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


More info about SYNDACTYLY TYPE 5

SOURCES: ORPHANET MESH OMIM

VACTERL/VATER ASSOCIATION


Alternate names

VACTERL/VATER ASSOCIATION Is also known as vacterl association, vater association

Description

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

Most common symptoms of VACTERL/VATER ASSOCIATION

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


More info about VACTERL/VATER ASSOCIATION

SOURCES: ORPHANET OMIM

ZYGODACTYLY TYPE 3


Alternate names

ZYGODACTYLY TYPE 3 Is also known as syndactyly type 1c, sd1c, syndactyly type 1, montagu type, zygodactyly, montagu type, sd1, montagu type


More info about ZYGODACTYLY TYPE 3

SOURCES: ORPHANET


Potential gene panels for HOXD13 gene

HOXD13 - Related Brachydactyly Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the HOXD13 gene.

More info about this panel

HOXD13 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HOXD13 gene.

More info about this panel

HOXD13. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HOXD13 gene.

More info about this panel

VATERL association (sequence analysis of HOXD13 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HOXD13 gene.

More info about this panel

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

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

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

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

Syndactyly type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HOXD13 gene.

More info about this panel

Syndactyly type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HOXD13 gene.

More info about this panel

Vater association Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HOXD13 gene.

More info about this panel

Single gene testing HOXD13 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HOXD13 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

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

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

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

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

HOXD13 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HOXD13 gene.

More info about this panel

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

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

Brachydactyly type E Panel

Spain.

By Bioarray

This panel specifically test the HOXD13 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) that also includes the following genes: FBLN1 HOXD13

More info about this panel

BRACHYDACTYLY TYPE D & TYPE E Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HOXD13 gene.

More info about this panel

Brachydactyly Type E, Sequencing HOXD13 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HOXD13 gene.

More info about this panel

Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes Panel

Spain.

By Reference Laboratory Genetics Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes that also includes the following genes: FBLN1 HOXD13

More info about this panel

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

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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