eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pituitary stalk interruption syndrome | ||||
| Disease ID | 1770 |
|---|---|
| Disease | pituitary stalk interruption syndrome |
| Definition | A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. |
| Synonym | ectopic neurohypophysis pituitary stalk interruption syndrome (disorder) |
| Orphanet | |
| UMLS | C4053775 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1770 |
|---|---|
| Disease | pituitary stalk interruption syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000028 | Cryptorchidism HP:0001250 | Seizures HP:0000786 | Primary amenorrhea HP:0001263 | Global developmental delay HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0011755 | Ectopic posterior pituitary HP:0004322 | Short stature HP:0000873 | Diabetes insipidus HP:0001943 | Hypoglycemia HP:0001522 | Death in infancy HP:0100842 | Septo-optic dysplasia HP:0001508 | Failure to thrive HP:0000823 | Delayed puberty HP:0008736 | Hypoplasia of penis HP:0000835 | Adrenal hypoplasia HP:0000821 | Hypothyroidism HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1770 |
|---|---|
| Disease | pituitary stalk interruption syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011755 | Ectopic posterior pituitary | MP:0013356 | ectopic pituitary gland | a pituitary gland located outside of its normal position |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000835 | Adrenal hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000873 | Diabetes insipidus | 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:0001263 | Global developmental delay | 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:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0008736 | Hypoplasia of penis | 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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000028 | Cryptorchidism | 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:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100842 | Septo-optic dysplasia | 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:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0011755 | Ectopic posterior pituitary | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| 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:0000835 | Adrenal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1770 |
|---|---|
| Disease | pituitary stalk interruption syndrome |
| Case | (Waiting for update.) |