Panhypopituitarism

Description

Insufficient production of all the anterior pituitary hormones.

Clinical Features

Top most frequent phenotypes and symptoms related to Panhypopituitarism

  • Intellectual disability
  • Short stature
  • Growth delay
  • Fatigue
  • Delayed skeletal maturation
  • Constipation
  • Osteopenia
  • Hypoglycemia
  • Delayed puberty
  • Infertility

And another 21 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Panhypopituitarism Is also known as pituitary dwarfism iv, formerly.

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.

Panhypopituitarism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
50 %
X-Linked Intellectual Disabilities Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
X-linked Intellectual Disabilities Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
50 %
SOX3. Complete sequencing Secuenciación completa.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SOX3
Specificity
100 %
Genes
50 %
Panhypopituitarism, X-linked (sequence analysis of SOX3 gene).

By CGC Genetics (Portugal).

SOX3
Specificity
100 %
Genes
50 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
50 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics (Portugal).

SOX3, LHX4, HESX1, LHX3, OTX2, POU1F1, PROP1
Specificity
29 %
Genes
100 %

You can get up to 92 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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