Pituitary Hormone Deficiency, Combined, 2; Cphd2

Clinical Features

Top most frequent phenotypes and symptoms related to Pituitary Hormone Deficiency, Combined, 2; Cphd2

  • Seizures
  • Short stature
  • Growth delay
  • Failure to thrive
  • Severe short stature
  • Hypogonadism
  • Hypothyroidism
  • Hypoglycemia
  • Growth hormone deficiency
  • Blue sclerae

And another 12 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

Pituitary Hormone Deficiency, Combined, 2; Cphd2 Is also known as panhypopituitarism, ateliotic dwarfism with hypogonadism, pituitary dwarfism iii, hanhart dwarfism.

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.

Pituitary Hormone Deficiency, Combined, 2; Cphd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
POU1F1 (CPHD) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

PROP1
Specificity
100 %
Genes
100 %
Combined Pituitary Hormone Deficiency Evaluation.

By Athena Diagnostics Inc (United States).

POU1F1, PROP1
Specificity
50 %
Genes
100 %
PROP1-Related Combined Pituitary Hormone Deficiency.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

PROP1
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
PROP1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

PROP1
Specificity
100 %
Genes
100 %

You can get up to 51 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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