LHX4 gene related symptoms and diseases

All the information presented here about the LHX4 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 LHX4 gene

Symptoms // Phenotype % Cases
Hypothyroidism Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with LHX4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Septo-optic dysplasia
  • Not very common - Between 30% and 50% cases

  • Abnormality of the hypothalamus-pituitary axis
  • Severe postnatal growth retardation
  • Global developmental delay
  • Hypotension
  • Constipation
  • Delayed skeletal maturation
  • Pituitary dwarfism

And 88 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LHX4 gene

Here you will find a list of rare diseases related to the LHX4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Alternate names

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms, familial congenital hypopituitarism

Description

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

Most common symptoms of COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

SOURCES: OMIM ORPHANET MESH

SHORT STATURE-PITUITARY AND CEREBELLAR DEFECTS-SMALL SELLA TURCICA SYNDROME


Alternate names

SHORT STATURE-PITUITARY AND CEREBELLAR DEFECTS-SMALL SELLA TURCICA SYNDROME Is also known as pituitary hormone deficiency, combined, with or without cerebellar defects, short stature, pituitary and cerebellar defects, and small sella turcica

Description

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).

Most common symptoms of SHORT STATURE-PITUITARY AND CEREBELLAR DEFECTS-SMALL SELLA TURCICA SYNDROME

  • Short stature
  • Respiratory distress
  • Delayed skeletal maturation
  • Cerebellar hypoplasia
  • Hypothyroidism


More info about SHORT STATURE-PITUITARY AND CEREBELLAR DEFECTS-SMALL SELLA TURCICA SYNDROME

SOURCES: ORPHANET MESH OMIM

PITUITARY STALK INTERRUPTION SYNDROME


Alternate names

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis, ectopic neurohypophysis

Description

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

Most common symptoms of PITUITARY STALK INTERRUPTION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


More info about PITUITARY STALK INTERRUPTION SYNDROME

SOURCES: ORPHANET

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


Potential gene panels for LHX4 gene

LHX4-Related Combined Pituitary Hormone Deficiency Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the LHX4 gene.

More info about this panel

LHX4 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the LHX4 gene.

More info about this panel

LHX4. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LHX4 gene.

More info about this panel

Pituitary hormone deficiency, combined, 4 (sequence analysis of LHX4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LHX4 gene.

More info about this panel

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

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

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

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

Combined Pituitary Hormone Deficiency-4 (CPHD-4) via LHX4 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LHX4 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

Pituitary hormone deficiency, combined type IV Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LHX4 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

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

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

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

Pituary hormone deficiency, combined, 4 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the LHX4 gene.

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

Pituary hormone deficiency, combined, 4 Panel

Slovakia.

By MedGene

This panel specifically test the LHX4 gene.

More info about this panel

Combined pituitary hormone deficiency (CPHD): LHX4 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LHX4 gene.

More info about this panel

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

LHX4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LHX4 gene.

More info about this panel

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

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

Pituitary hormone deficiency, combined, 4 Panel

Spain.

By Bioarray

This panel specifically test the LHX4 gene.

More info about this panel

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

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

Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Short Stature, autosomal recessive, NGS and Deletion/Duplication Panel that also includes the following genes: LHX4 GH1 GHR GHRHR GHSR HESX1 POU1F1 PROP1

More info about this panel

LHX4 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 LHX4 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

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

Combined Pituitary Hormone Deficiency Type 4 , Sequencing LHX4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LHX4 gene.

More info about this panel

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

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


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