Pituitary stalk interruption syndrome
Synonyms: Ectopic neurohypophysis · PSIS
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pituitary stalk interruption syndrome | Ectopic neurohypophysis · PSIS |
| fr | Rupture de la tige pituitaire | PSIS · Posthypophyse ectopique · Rupture de la tige hypophysaire · Syndrome d'interruption de la tige hypophysaire · Syndrome d'interruption de la tige pituitaire |
| de | Hypophysenstieldurchtrennung, isolierte | Neurohypophyse, ektopische · PSIS |
| es | Síndrome de interrupción del tallo hipofisario | |
| it | Sindrome da interruzione del peduncolo ipofisario | Neuroipofisi ectopica · PSIS |
| nl | Interruptie van hypofysesteel-syndroom | 'Pituitary stalk interruption'-syndroom · Ectopische neurohypofyse · PSIS |
| pt | Neurohipófise ectópica, isolada | |
| pl | Zespół przerwania szypuły przysadki | Ektopowa przysadka · PSIS |
| cs | Syndrom přerušení hypofyzární stopky | Ektopická neurohypofýza · PSIS |
| uk | Синдром переривання гіпофізарної ніжки | Ектопічний нейрогіпофіз · PSIS |
| zh | 垂体柄中断综合征 | 异位神经垂体 |
| tr | Hipofiz sapı kesinti sendromu | PSIS · Ektopik nörohipofiz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620303 | BTNT | validated | |
| ICD-10 | E23.6 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0019828 | E | validated | |
| UMLS | C4053775 | E | validated | |
| GARD | 13209 | E | validated | |
| MedDRA | 10088621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PROKR2 | Candidate gene tested in | Assessed | HGNC:15836 | ENSG00000101292 | 607123 | 20p12.3 | prokineticin receptor 2 | 28453850[PMID] |
| WDR11 | Candidate gene tested in | Assessed | HGNC:13831 | ENSG00000120008 | 606417 | 10q26.12 | WD repeat domain 11 | 28453850[PMID] |
| ROBO1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10249 | ENSG00000169855 | 602430 | 3p12.3 | roundabout guidance receptor 1 | 28402530[PMID] |
| CDON | Disease-causing germline mutation(s) in | Assessed | HGNC:17104 | ENSG00000064309 | 608707 | 11q24.2 | cell adhesion associated, oncogene regulated | 26529631[PMID] |
| GPR161 | Disease-causing germline mutation(s) in | Assessed | HGNC:23694 | ENSG00000143147 | 612250 | 1q24.2 | G protein-coupled receptor 161 | 25322266[PMID] |
| HESX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4877 | ENSG00000163666 | 601802 | 3p14.3 | HESX homeobox 1 | 21270112[PMID] |
| LHX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:21734 | ENSG00000121454 | 602146 | 1q25.2 | LIM homeobox 4 | 21270112[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011755 | Ectopic posterior pituitary | |
| Very frequent (99-80%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0001508 | Failure to thrive | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000823 | Delayed puberty | |
| HP:0001943 | Hypoglycemia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000821 | Hypothyroidism | |
| Occasional (29-5%) | ||
| HP:0000835 | Adrenal hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0000873 | Diabetes insipidus | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000786 | Primary amenorrhea | |
| HP:0001250 | Seizure | |
| HP:0100842 | Septo-optic dysplasia | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25322266[PMID]_26733480[PMID]_25322266[PMID]_22466334[PMID]_9329385[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95496
- This record as JSON: /data/d/95496.json