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.
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
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
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
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.
Most common symptoms of SYNPOLYDACTYLY TYPE 1
- Brachydactyly
- Syndactyly
- Clinodactyly
- Clinodactyly of the 5th finger
- Polydactyly
More info about SYNPOLYDACTYLY TYPE 1
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
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
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
Search interest in HOXD13
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 Switzerland.
HOXD13 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the HOXD13 gene.
More info about this panel United States.
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 Spain.
VATERL association (sequence analysis of HOXD13 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HOXD13 gene.
More info about this panel Portugal.
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.
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.
Syndactyly type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HOXD13 gene.
More info about this panel Germany.
Syndactyly type 5 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HOXD13 gene.
More info about this panel Germany.
Vater association Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HOXD13 gene.
More info about this panel Germany.
Single gene testing HOXD13 Panel
Germany.
By CeGaT GmbH
This panel specifically test the HOXD13 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.
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 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.
HOXD13 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HOXD13 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.
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 E Panel
Spain.
By Bioarray
This panel specifically test the HOXD13 gene.
More info about this panel Spain.
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 United States.
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 Spain.
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 Spain.
Brachydactyly Type E, Sequencing HOXD13 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HOXD13 gene.
More info about this panel Spain.
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 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.
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 United States.
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