GH1 gene related symptoms and diseases

All the information presented here about the GH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GH1 gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Growth hormone deficiency Very Common - Between 80% and 100% cases
Severe short stature Very Common - Between 80% and 100% cases
Delayed skeletal maturation Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GH1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Obesity
  • Truncal obesity
  • Not very common - Between 30% and 50% cases

  • Frontal bossing
  • Pituitary dwarfism
  • Proportionate short stature
  • Rarely - Less than 30% cases

  • Precocious atherosclerosis
  • Atherosclerosis
  • Fine hair

And 26 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GH1 gene

Here you will find a list of rare diseases related to the GH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED GROWTH HORMONE DEFICIENCY TYPE II


Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY TYPE II Is also known as congenital isolated growth hormone deficiency type ii, congenital ighd type ii, ighd ii, congenital isolated gh deficiency type ii, pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant, growth hormone deficiency, isolated, autosomal

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY TYPE II

  • Growth delay
  • Severe short stature
  • Growth hormone deficiency
  • Ectopic posterior pituitary
  • Pituitary dwarfism


More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE II

SOURCES: ORPHANET MESH OMIM

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA


Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia, congenital isolated growth hormone deficiency type ia, congenital isolated gh deficiency type ia

Description

Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

SOURCES: OMIM ORPHANET

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A


Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A Is also known as primordial dwarfism, growth hormone deficiency, isolated, autosomal recessive, sexual ateleiotic dwarfism, pituitary dwarfism i, ighd ia, illig-type growth hormone deficiency

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Obesity


More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA; IGHD1A

SOURCES: MESH OMIM

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB


Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly, congenital isolated growth hormone deficiency type ib, congenital ighd type ib, congenital isolated gh deficiency type ib, dwarfism of sindh, isolated growth hormone deficiency, type ib, formerly

Description

IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

SOURCES: OMIM ORPHANET

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B


Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh, ighd ib

Description

Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

SOURCES: MESH OMIM

SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY


Alternate names

SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY Is also known as kowarski syndrome, pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin, biodefective growth hormone

Description

Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive.

Most common symptoms of SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY

  • Short stature
  • Growth delay
  • Abnormality of metabolism/homeostasis
  • Delayed skeletal maturation
  • Severe short stature


More info about SHORT STATURE DUE TO GROWTH HORMONE QUALITATIVE ANOMALY

SOURCES: OMIM ORPHANET MESH


Potential gene panels for GH1 gene

Growth Hormone Deficiency (GHD) Evaluation Panel

United States.

By Athena Diagnostics Inc Growth Hormone Deficiency (GHD) Evaluation that also includes the following genes: SHOX GH1 GHRHR

More info about this panel

GH1 (GHD) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GH1 gene.

More info about this panel

GH1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GH1 gene.

More info about this panel

Growth hormone deficiency, isolated type IA (sequence analysis of GH1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GH1 gene.

More info about this panel

Isolated growth hormone deficiency type IA (deletion/duplication analysis of GH1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GH1 gene.

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

Ateleiotic dwarfism Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GH1 gene.

More info about this panel

Test for Isolated Growth Hormone Deficiency, Type IA Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GH1 gene.

More info about this panel

Test for Isolated Growth Hormone Deficiency, Type II Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GH1 gene.

More info about this panel

Isolated growth hormone deficiency type 1B Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Isolated growth hormone deficiency type 1B that also includes the following genes: GH1 GHRHR

More info about this panel

Kowarski Syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the GH1 gene.

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

Growth hormone deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GH1 gene.

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

Growth hormone deficiency: GH1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GH1 gene.

More info about this panel

Growth hormone deficiency: GH1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GH1 gene.

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

GH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GH1 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

Isolated growth hormone deficiency type IA Panel

Spain.

By Bioarray

This panel specifically test the GH1 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

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

GH1 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 GH1 gene.

More info about this panel

GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) that also includes the following genes: RNPC3 GH1 GH2 GHRHR GHSR

More info about this panel

Isolated Growth Hormone Deficiency Type II  , Sequencing GH1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GH1 gene.

More info about this panel

Isolated Growth Hormone Deficiency Type IA  , Sequencing GH1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GH1 gene.

More info about this panel

Isolated Growth Hormone Deficiency Type IB  , Sequencing GH1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GH1 gene.

More info about this panel

Growth Hormone Deficiency , Deletions-Duplications (MLPA) GH1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GH1 gene.

More info about this panel


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