Isolated Growth Hormone Deficiency, Type Ia; Ighd1a

Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Growth Hormone Deficiency, Type Ia; Ighd1a

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Obesity
  • Depressivity
  • Delayed skeletal maturation
  • Severe short stature
  • Osteoporosis
  • Micropenis

And another 18 symptoms. If you need more information about this disease we can help you.

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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.


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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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY ROTOR SYNDROME MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

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