HESX1 gene related symptoms and diseases

All the information presented here about the HESX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HESX1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Septo-optic dysplasia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with HESX1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypothyroidism
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Ectopic posterior pituitary
  • Constipation
  • Hypoplasia of penis
  • Absent septum pellucidum
  • Abnormality of the hypothalamus-pituitary axis
  • Anterior pituitary hypoplasia

And 151 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HESX1 gene

Here you will find a list of rare diseases related to the HESX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KALLMANN SYNDROME


Alternate names

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia, olfacto-genital pathological sequence

Description

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

Most common symptoms of KALLMANN SYNDROME

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


More info about KALLMANN SYNDROME

SOURCES: ORPHANET

SEPTO-OPTIC DYSPLASIA SPECTRUM


Alternate names

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod, septo-optic dysplasia, de morsier syndrome

Description

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

Most common symptoms of SEPTO-OPTIC DYSPLASIA SPECTRUM

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus


More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

SOURCES: ORPHANET

SEPTOOPTIC DYSPLASIA


Alternate names

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Description

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

Most common symptoms of SEPTOOPTIC DYSPLASIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


More info about SEPTOOPTIC DYSPLASIA

SOURCES: OMIM

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

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 HESX1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Septooptic Dysplasia Panel

United States.

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

This panel specifically test the HESX1 gene.

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

Septo-Optic Dysplasia and Schizencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Septo-Optic Dysplasia and Schizencephaly that also includes the following genes: SHH SIX3 SOX2 COL4A1 EMX2 HESX1

More info about this panel

HESX1 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HESX1 gene.

More info about this panel

HESX1 mutation analysis Panel

Netherlands.

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

This panel specifically test the HESX1 gene.

More info about this panel

HESX1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HESX1 gene.

More info about this panel

Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HESX1 gene.

More info about this panel

Septooptic dysplasia (sequence analysis of HESX1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HESX1 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

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

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

Hypogonadism hypogonadotropic (NGS panel of 26 genes) Panel

Portugal.

By CGC Genetics Hypogonadism hypogonadotropic (NGS panel of 26 genes) that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

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

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2

More info about this panel

HESX1-Related Disorders via HESX1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HESX1 gene.

More info about this panel

Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Septo-optic Dysplasia Spectrum Sequencing Panel with CNV Detection that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1

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

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

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel

Septooptic dysplasia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HESX1 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

HESX1 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the HESX1 gene.

More info about this panel

Septo-optical dysplasia Panel Panel

Germany.

By CeGaT GmbH Septo-optical dysplasia Panel that also includes the following genes: SOX2 SOX3 PROKR2 TAX1BP3 FGFR2 HESX1 OTX2

More info about this panel

Single gene testing HESX1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HESX1 gene.

More info about this panel

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

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

Hypothyroidism and Thyroid Hormone Resistance Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel

Septo-optic dysplasia Panel

United States.

By Molecular Vision Laboratory Septo-optic dysplasia that also includes the following genes: SOX2 HESX1 OTX2 PAX6

More info about this panel

Pituary hormone deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the HESX1 gene.

More info about this panel

Septooptic Dysplasia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the HESX1 gene.

More info about this panel

Pituary hormone deficiency Panel

Slovakia.

By MedGene

This panel specifically test the HESX1 gene.

More info about this panel

Septooptic Dysplasia Panel

Slovakia.

By MedGene

This panel specifically test the HESX1 gene.

More info about this panel

Morsier syndrome: HESX1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HESX1 gene.

More info about this panel

Combined pituitary hormone deficiency (CPHD): HESX1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HESX1 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

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

Septo-optic Dysplasia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Septo-optic Dysplasia NGS Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6 PROP1

More info about this panel

HESX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HESX1 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

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Septo-Optic Dysplasia Panel Panel

Finland.

By Blueprint Genetics Septo-Optic Dysplasia Panel that also includes the following genes: SOX2 HESX1 OTX2 PAX6

More info about this panel

Hypothyroidism and Resistance to Thyroid Hormone Panel Panel

Finland.

By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

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

Septo-optic dysplasia Panel

Spain.

By Bioarray

This panel specifically test the HESX1 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

HESX1 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 HESX1 gene.

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

HANHART DWARFISM Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HESX1 gene.

More info about this panel

SEPTO-OPTIC DYSPLASIA (MORSIER SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the HESX1 gene.

More info about this panel

ANOPHTHALMIA/ MICROPHTALMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA that also includes the following genes: SHH SIX3 SIX6 SOX2 RAX VSX2 HESX1 OTX2 PAX6

More info about this panel

HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL that also includes the following genes: SEMA3A TAC3 TACR3 WDR11 SPRY4 PROKR2 IL17RD PROK2 CHD7 FEZF1

More info about this panel

Septo-Optic Dysplasia , Sequencing HESX1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HESX1 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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