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.
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
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
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
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
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
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
Search interest in GH1
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 United States.
GH1 (GHD) DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GH1 gene.
More info about this panel United States.
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 Spain.
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 Portugal.
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 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.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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.
Growth hormone deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GH1 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.
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 Spain.
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 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.
GH1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GH1 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.
Isolated growth hormone deficiency type IA Panel
Spain.
By Bioarray
This panel specifically test the GH1 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.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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