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.
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
Learn moreSources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA; PPKP1A TANGIER DISEASE HERMANSKY-PUDLAK SYNDROME 4; HPS4 HYPERALDOSTERONISM, FAMILIAL, TYPE I; HALD1 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK NASOPHARYNGEAL CARCINOMA