eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| triple a syndrome | ||||
| Disease ID | 635 |
|---|---|
| Disease | triple a syndrome |
| Definition | A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused in some cases by mutations in the AAAS gene on chromosome 12 which encodes the ALADIN protein of nuclear pore complexes. Clinical signs usually appear during the first decade and include alacrima, achalasia, autonomic dysfunction and the sequelae of adrenocortical insufficiency: hypoglycemia and hypotension. For most patients, the clinical course includes a progression of neurologic disability and increased morbidity from autonomic dysfunction. |
| Synonym | aaa syndrome aaas achalasia addisonianism alacrimia syndrome achalasia alacrimia syndrome achalasia-addisonian syndrome achalasia-addisonianism-alacrima syndrome achalasia-alacrima syndrome acth resistant adrenal insufficiency, achalasia and alacrima acth-resistant adrenal insufficiency, achalasia and alacrima addisonian achalasia syndrome addisonian-achalasia syndrome alacrima-achalasia-addisonianism alacrima-achalasia-adrenal insufficiency neurologic disorder alacrimia-achalasia-addisonianism allgrove syndrome allgroves syndrome glucocorticoid deficiency and achalasia glucocorticoid deficiency with achalasia glucocorticoid deficiency with achalasia (disorder) hypoadrenalism with achalasia infantile achalasia with alacrima triple-a syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0271742 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0040053 | thrombus | 4 C0004153 | atherosclerosis | 2 C0025362 | mental retardation | 1 C0014848 | achalasia | 1 C0003486 | aortic aneurysms | 1 C0033860 | psoriasis | 1 C0001623 | adrenal insufficiency | 1 C0003486 | aortic aneurysm | 1 C0022116 | ischemia | 1 C0028754 | obesity | 1 C1565489 | renal insufficiency | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 65057 | ACD | 2.44 | DISEASES 54840 | APTX | 3.554 | DISEASES 664 | BNIP3 | 1.469 | DISEASES 1028 | CDKN1C | 1.202 | DISEASES 1589 | CYP21A2 | 1.138 | DISEASES 1718 | DHCR24 | 1.929 | DISEASES 2081 | ERN1 | 1.701 | DISEASES 80712 | ESX1 | 1.983 | DISEASES 3005 | H1F0 | 1.403 | DISEASES 51194 | IPO11 | 4.118 | DISEASES 10527 | IPO7 | 3.043 | DISEASES 3916 | LAMP1 | 1.16 | DISEASES 4158 | MC2R | 5.35 | DISEASES 190 | NR0B1 | 2.275 | DISEASES 4521 | NUDT1 | 1.963 | DISEASES 10424 | PGRMC2 | 3.084 | DISEASES 6334 | SCN8A | 1.9 | DISEASES 6443 | SGCB | 1.079 | DISEASES 6597 | SMARCA4 | 1.237 | DISEASES 6602 | SMARCD1 | 3.376 | DISEASES 6603 | SMARCD2 | 3.717 | DISEASES 6648 | SOD2 | 1.203 | DISEASES 6658 | SOX3 | 2.185 | DISEASES 9095 | TBX19 | 2.577 | DISEASES 60684 | TRAPPC11 | 3.228 | DISEASES 10477 | UBE2E3 | 3.522 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 635 |
|---|---|
| Disease | triple a syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918547 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53309158 | G | C,A |
| rs121918548 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53307698 | G | A |
| rs121918548 | 14646395 | 8086 | AAAS | umls:C0271742 | BeFree | Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene. | 0.490043349 | 2004 | AAAS | 12 | 53307698 | G | A |
| rs121918549 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53321423 | G | T |
| rs121918550 | 11159947 | 8086 | AAAS | umls:C0271742 | UNIPROT | Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. | 0.490043349 | 2001 | AAAS | 12 | 53309624 | A | G |
| rs121918550 | 18172684 | 8086 | AAAS | umls:C0271742 | BeFree | Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation. | 0.490043349 | 2008 | AAAS | 12 | 53309624 | A | G |
| rs121918550 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53309624 | A | G |
| rs387906326 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53308975 | - | A |
| rs773601814 | NA | 8086 | AAAS | umls:C0271742 | CLINVAR | NA | 0.490043349 | NA | AAAS | 12 | 53309018 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0007440 | Generalized hyperpigmentation | MP:0001188 | hyperpigmentation | excess of pigment in any or all tissues or a part of a tissue |
| HP:0000612 | Iris coloboma | MP:0005262 | coloboma | anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000612 | Iris coloboma | MP:0013791 | absent external nares | absence or failure to form both of the anterior openings to the nasal cavity |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000846 | Adrenal insufficiency | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002571 | Achalasia | MP:0011882 | enlarged duodenum | increased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000982 | Palmoplantar keratoderma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000830 | Anterior hypopituitarism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0007440 | Generalized hyperpigmentation | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| Disease ID | 635 |
|---|---|
| Disease | triple a syndrome |
| Case | (Waiting for update.) |