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

SOURCES: ORPHANET OMIM

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. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

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

SOURCES: OMIM MESH

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. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

Most common symptoms of FAMILIAL ISOLATED PITUITARY ADENOMA

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


More info about FAMILIAL ISOLATED PITUITARY ADENOMA

SOURCES: OMIM ORPHANET

ACROLEUKOPATHY, SYMMETRIC

Most common symptoms of ACROLEUKOPATHY, SYMMETRIC

  • Symmetric great toe depigmentation


More info about ACROLEUKOPATHY, SYMMETRIC

SOURCES: OMIM MESH

SILENT PITUITARY ADENOMA

NULL PITUITARY ADENOMA


Potential gene panels for AIP gene

AIP Sequencing Panel

United States.

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 panel
United States.

AIP Deletion/duplication analysis Panel

United States.

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 panel
United States.

BrainTumorNext Panel

United States.

By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1

More info about this panel
United States.

CustomNext: Cancer Panel

United States.

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 panel
United States.

Familial isolated pituitary adenoma (sequence analysis of AIP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AIP gene.

More info about this panel
Portugal.

Familial isolated pituitary adenoma (deletion/duplication analysis of AIP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AIP gene.

More info about this panel
Portugal.

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

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 panel
Portugal.

AIP-Related Familial Isolated Pituitary Adenomas Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the AIP gene.

More info about this panel
United Kingdom.

Familial Isolated Pituitary Adenoma via AIP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AIP gene.

More info about this panel
United States.

Cancer Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

Hereditary Cancer Syndromes - panels Panel

Germany.

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 panel
Germany.

AIP Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the AIP gene.

More info about this panel
Netherlands.

Pituitary adenoma, growth hormone-secreting Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AIP gene.

More info about this panel
Germany.

AIP-Related Familial Isolated Pituitary Adenomas Panel

Israel.

By GGA - Galil Genetic Analysis

This panel specifically test the AIP gene.

More info about this panel
Israel.

Cancer Predisposition Panel

Estonia.

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 panel
Estonia.

Pituitary adenomas, familial: AIP gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AIP gene.

More info about this panel
Spain.

Pituitary adenoma, familial: AIP gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the AIP gene.

More info about this panel
Spain.

ONCOLOGY, PANEL Panel

Spain.

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 panel
Spain.

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

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 panel
United States.

Endocrine Cancer: Sequencing Panel Panel

United States.

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 panel
United States.

Hereditary Cancer NGS Panel Panel

United States.

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 panel
United States.

AIP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AIP gene.

More info about this panel
United States.

Comprehensive Cancer Panel Panel

United States.

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 panel
United States.

Comprehensive Hereditary Cancer Panel Panel

Finland.

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 panel
Finland.

Hereditary Endocrine Cancer Panel Panel

Finland.

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 panel
Finland.

FAMILIAL PITUITARY ADENOMA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AIP gene.

More info about this panel
Spain.

ACROMEGALY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AIP gene.

More info about this panel
Spain.

ACTH- secreting Pituitary Adenoma , Sequencing AIP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AIP gene.

More info about this panel
Spain.

Prolactin-secreting Pituitary Adenoma , Sequencing AIP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AIP gene.

More info about this panel
Spain.

Growth Hormone-secreting Pituitary Adenoma , Sequencing AIP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AIP gene.

More info about this panel
Spain.

Pituitary Adenoma , Deletions-Duplications (MLPA) AIP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AIP gene.

More info about this panel
Spain.

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

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 panel
Spain.

Phosphorus Brain and Nervous System Cancer Panel Panel

United States.

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 panel
United States.

Phosphorus Pan-Cancer Panel Panel

United States.

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 panel
United States.

Tempus xO assay Panel

United States.

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 panel
United States.

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

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 panel
Canada.

Endocrine Cancer: gene sequencing Panel Panel

Canada.

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 panel
Canada.

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

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

More info about this panel
Canada.

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