AIP gene related symptoms and diseases
All the information presented here about the AIP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AIP gene
Symptoms // Phenotype | % Cases |
---|---|
Fatigue | Common - Between 50% and 80% cases |
Neoplasm of the endocrine system | Uncommon - Between 30% and 50% cases |
Growth hormone excess | Uncommon - Between 30% and 50% cases |
Headache | Uncommon - Between 30% and 50% cases |
Hypertension | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with AIP gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neoplasm
- Galactorrhea
- Decreased circulating ACTH level
- Impotence
- Depressivity
- Hypotension
- Pituitary adenoma
- Osteoporosis
And 210 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AIP gene
Here you will find a list of rare diseases related to the AIP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROLACTINOMA
Alternate names
PROLACTINOMA Is also known as pituitary lactotrophic adenoma, prloma, prl-secreting pituitary adenoma, prolactin-secreting pituitary adenoma, lactotroph adenoma, prolactinoma, familial
Description
Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.
Most common symptoms of PROLACTINOMA
- Seizures
- Neoplasm
- Ptosis
- Fatigue
- Blindness
More info about PROLACTINOMA
ARTERIAL TORTUOSITY SYNDROME; ATS
Alternate names
ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity
Most common symptoms of ARTERIAL TORTUOSITY SYNDROME; ATS
- Intellectual disability
- Seizures
- Generalized hypotonia
- Scoliosis
- Hypertelorism
More info about ARTERIAL TORTUOSITY SYNDROME; ATS
SOURCES: OMIM
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
Alternate names
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia, cushing syndrome, adrenal, due to aimah, corticotropin-independent macronodular adrenal hyperplasia, adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
Description
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH.
Most common symptoms of ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
- Neoplasm
- Failure to thrive
- Muscle weakness
- Cataract
- Visual impairment
More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1
ACROMEGALY
Description
Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
Most common symptoms of ACROMEGALY
- Neoplasm
- Hypertension
- Fatigue
- Frontal bossing
- Abnormality of the dentition
More info about ACROMEGALY
SOURCES: ORPHANET
FAMILIAL ISOLATED PITUITARY ADENOMA
Alternate names
FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated, pagh1, somatotrophinoma, familial, ifs, isolated familial somatotropinoma, fipa, acromegaly due to pituitary adenoma 1, fis
Description
Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem.
Most common symptoms of FAMILIAL ISOLATED PITUITARY ADENOMA
- Neoplasm
- Hypertension
- Fatigue
- Cardiomyopathy
- Headache
More info about FAMILIAL ISOLATED PITUITARY ADENOMA
ACROLEUKOPATHY, SYMMETRIC
Most common symptoms of ACROLEUKOPATHY, SYMMETRIC
- Symmetric great toe depigmentation
More info about ACROLEUKOPATHY, SYMMETRIC
SILENT PITUITARY ADENOMA
NULL PITUITARY ADENOMA
Search interest in AIP
Potential gene panels for AIP gene
AIP Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the AIP gene.
More info about this panelAIP Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the AIP gene.
More info about this panelBrainTumorNext Panel
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
More info about this panelCustomNext: Cancer Panel
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panelFamilial isolated pituitary adenoma (sequence analysis of AIP gene) Panel
By CGC Genetics
This panel specifically test the AIP gene.
More info about this panelFamilial isolated pituitary adenoma (deletion/duplication analysis of AIP gene) Panel
By CGC Genetics
This panel specifically test the AIP gene.
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelAIP-Related Familial Isolated Pituitary Adenomas Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the AIP gene.
More info about this panelFamilial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AIP gene.
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelAIP Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the AIP gene.
More info about this panelPituitary adenoma, growth hormone-secreting Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AIP gene.
More info about this panelAIP-Related Familial Isolated Pituitary Adenomas Panel
By GGA - Galil Genetic Analysis
This panel specifically test the AIP gene.
More info about this panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelPituitary adenomas, familial: AIP gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AIP gene.
More info about this panelPituitary adenoma, familial: AIP gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AIP gene.
More info about this panelONCOLOGY, PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelHereditary Cancer Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelEndocrine Cancer: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Cancer: Sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panelHereditary Cancer NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelAIP Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AIP gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelHereditary Endocrine Cancer Panel Panel
By Blueprint Genetics Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL WRN CDC73 DICER1 CDKN1B
More info about this panelFAMILIAL PITUITARY ADENOMA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AIP gene.
More info about this panelACROMEGALY Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AIP gene.
More info about this panelACTH- secreting Pituitary Adenoma , Sequencing AIP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AIP gene.
More info about this panelProlactin-secreting Pituitary Adenoma , Sequencing AIP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AIP gene.
More info about this panelGrowth Hormone-secreting Pituitary Adenoma , Sequencing AIP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AIP gene.
More info about this panelPituitary Adenoma , Deletions-Duplications (MLPA) AIP Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AIP gene.
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelPhosphorus Brain and Nervous System Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panelPhosphorus Pan-Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelEndocrine Cancer: gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Endocrine Cancer: gene sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panelHereditary Cancer Syndrome: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
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