Isolated Growth Hormone Deficiency, Type Ia; Ighd1a

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative 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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Isolated Growth Hormone Deficiency, Type Ia; Ighd1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Growth Hormone Deficiency (GHD) Evaluation. By Athena Diagnostics Inc (United States). SHOX, GH1, GHRHR Specificity 34 % Genes 100 %
GH1 (GHD) DNA Sequencing Test. By Athena Diagnostics Inc (United States). GH1 Specificity 100 % Genes 100 %
GH1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). GH1 Specificity 100 % Genes 100 %
Growth hormone deficiency, isolated type IA (sequence analysis of GH1 gene). By CGC Genetics (Portugal). GH1 Specificity 100 % Genes 100 %
Isolated growth hormone deficiency type IA (deletion/duplication analysis of GH1 gene). By CGC Genetics (Portugal). GH1 Specificity 100 % Genes 100 %
Septooptic dysplasia (NGS panel for 17 genes). By CGC Genetics (Portugal). SLC12A6, SOX2, SOX3, LHX4, EPG5, TAX1BP3, FGF8, FGFR2, GH1, GLI2, HESX1, ANOS1, LHX3, OTX2, PAX6, POU1F1, PROP1 Specificity 6 % Genes 100 %
Septooptic dysplasia (NGS panel for 17 genes). By CGC Genetics (Portugal). SLC12A6, SOX2, SOX3, LHX4, EPG5, TAX1BP3, FGF8, FGFR2, GH1, GLI2, HESX1, ANOS1, LHX3, OTX2, PAX6, POU1F1, PROP1 Specificity 6 % Genes 100 %
Ateleiotic dwarfism. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). GH1 Specificity 100 % Genes 100 %

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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