LHX3 gene related symptoms and diseases
All the information presented here about the LHX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LHX3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Jaundice | Very Common - Between 80% and 100% cases |
| Short stature | Very Common - Between 80% and 100% cases |
| Abnormality of the hypothalamus-pituitary axis | Uncommon - Between 30% and 50% cases |
| Muscular hypotonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LHX3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gonadotropin deficiency
- Anterior pituitary hypoplasia
- Prolactin deficiency
- Abnormal anterior horn cell morphology
- Thoracolumbar kyphoscoliosis
- Pituitary dwarfism
- Lumbar kyphosis
- Hypothalamic luteinizing hormone-releasing hormone deficiency
And 40 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LHX3 gene
Here you will find a list of rare diseases related to the LHX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME
Alternate names
NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism, non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome, pituitary hormone deficiency, combined, with rigid cervical spine
Description
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Most common symptoms of NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Growth delay
More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME
HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
Description
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.
Most common symptoms of HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
- Intellectual disability
- Global developmental delay
- Short stature
- Muscular hypotonia
- Feeding difficulties
More info about HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION
SOURCES: ORPHANET
Search interest in LHX3
Potential gene panels for LHX3 gene
LHX3-Related Combined Pituitary Hormone Deficiency Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the LHX3 gene.
More info about this panel United States.
LHX3 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the LHX3 gene.
More info about this panel Netherlands.
LHX3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LHX3 gene.
More info about this panel Spain.
Pituitary hormone deficiency, combined, 3 (sequence analysis of LHX3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LHX3 gene.
More info about this panel Portugal.
Congenital hypopituitarism (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Portugal.
Septooptic dysplasia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel Portugal.
Septooptic dysplasia (NGS panel for 17 genes) Panel
Portugal.
By CGC Genetics Septooptic dysplasia (NGS panel for 17 genes) that also includes the following genes: SLC12A6 SOX2 SOX3 LHX4 EPG5 TAX1BP3 FGF8 FGFR2 GH1 GLI2
More info about this panel Portugal.
Congenital hypopituitarism (NGS panel for 7 genes) Panel
Portugal.
By CGC Genetics Congenital hypopituitarism (NGS panel for 7 genes) that also includes the following genes: SOX3 LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Portugal.
Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Combined Pituitary Hormone Deficiency (CPHD) Sequencing Panel with CNV Detection that also includes the following genes: SOX2 SOX3 LHX4 GLI2 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2
More info about this panel United States.
Female Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Male Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Short stature with endocrinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
LHX3-Related Combined Pituitary Hormone Deficiency Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the LHX3 gene.
More info about this panel Germany.
Pituitary hormone deficiency, combined type III Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LHX3 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Single gene testing LHX3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the LHX3 gene.
More info about this panel Germany.
Combined Pituitary Hormone Deficiency Panel
Estonia.
By Asper Biogene Asper Biogene LLC Combined Pituitary Hormone Deficiency that also includes the following genes: LHX4 GH1 GHRHR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Estonia.
Septooptic dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Septooptic dysplasia that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel Spain.
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
LHX3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LHX3 gene.
More info about this panel United States.
Comprehensive Short Stature Syndrome Panel Panel
Finland.
By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B
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.
Pituitary hormone deficiency, combined, 3 Panel
Spain.
By Bioarray
This panel specifically test the LHX3 gene.
More info about this panel Spain.
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: BTK LHX4 GH1 GHRHR GHSR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Combined Pituitary Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
LHX3 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the LHX3 gene.
More info about this panel United States.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
COMBINED PITUITARY HORMONE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL COMBINED PITUITARY HORMONE DEFICIENCY that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Spain.
Combined Pituitary Hormone Deficiency Type 3 , Sequencing LHX3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LHX3 gene.
More info about this panel Spain.
Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Combined Pituitary Hormone Deficiency , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: LHX4 HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel Spain.
Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Septo-Optic Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SOX2 SOX3 LHX4 FGF8 GLI2 HESX1 LHX3 OTX2 PAX6
More info about this panel Spain.
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