Pituitary stalk interruption syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PSIS
Ectopic neurohypophysis
Number of Symptoms 15
OrphanetNr: 95496
OMIM Id:
ICD-10: E23.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Nonacquired pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0000786) Primary amenorrhea Occasional [Orphanet] 61 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0100842) Septo-optic dysplasia Occasional [Orphanet] 8 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0000873) Diabetes insipidus Occasional [Orphanet] 34 / 7739
7
 (HPO:0008207) Primary adrenal insufficiency Occasional [Orphanet] 26 / 7739
8
 (HPO:0000821) Hypothyroidism Frequent [Orphanet] 141 / 7739
9
 (HPO:0000864) Abnormality of the hypothalamus-pituitary axis Very frequent [Orphanet] 23 / 7739
10
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
11
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
14
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
15
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: