Non-acquired panhypopituitarism
Synonyms: Genetic panhypopituitarism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare genetic pituitary disease characterized by variable deficiency of all hormones produced in the anterior lobe of the pituitary gland. Clinical manifestations include hypothyroidism, hypogonadism, growth retardation and short stature, and secondary adrenal insufficiency. Age of onset is variable. Signs and symptoms usually develop gradually, and loss of the different hormones is often sequential.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-acquired panhypopituitarism | Genetic panhypopituitarism |
| fr | Panhypopituitarisme non acquis | Panhypopituitarisme d'origine génétique |
| de | Panhypopituitarismus, genetisch bedingter | |
| es | Panhipopituitarismo no adquirido | Panhipopituitarismo genético |
| it | Panipopituitarismo non acquisito | |
| nl | Niet-verworven panhypopituïtarisme | Genetisch panhypopituïtarisme |
| pt | Pan-hipopituitarismo | |
| pl | Wielohormonalna niedoczynność przysadki | = en |
| cs | Panhypopituitarismus | = en |
| uk | Ненабутий пангіпопітуїтаризм | Генетичний пангіпопітуїтаризм |
| zh | 非获得性全垂体功能减退 | 遗传性全垂体功能减退 |
| tr | Edinsel olmayan panhipopituitarizm | Genetik panhipopituitarizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262600 | BTNT | validated | |
| OMIM | 312000 | BTNT | validated | |
| ICD-10 | E23.0 | NTBT | inclusion | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0019591 | E | validated | |
| MONDO | 19591 | E | validated | |
| UMLS | C5680191 | E | validated | |
| MedDRA | 10033662 | 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:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:178025Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
rare genetic diseases; rare endocrine diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 15800844[PMID] |
| PROP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9455 | ENSG00000175325 | 601538 | 5q35.3 | PROP paired-like homeobox 1 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 41 cases | Worldwide | Case(s) | Validated | 9768691[PMID]_15531542[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 9768691[PMID]_15531542[PMID]_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
27 annotations · validated 2016-07-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0040075 | Hypopituitarism | |
| Frequent (79-30%) | ||
| HP:0040086 | Abnormal prolactin level | |
| HP:0009888 | Abnormality of secondary sexual hair | |
| HP:0000141 | Amenorrhea | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | |
| HP:0002920 | Decreased circulating ACTH level | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008734 | Decreased testicular size | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0012378 | Fatigue | |
| HP:0001510 | Growth delay | |
| HP:0001943 | Hypoglycemia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0002615 | Hypotension | |
| HP:0000789 | Infertility | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0002019 | Constipation | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000938 | Osteopenia | |
| HP:0005625 | Osteoporosis of vertebrae | |
| HP:0000839 | Pituitary dwarfism | |
| Very rare (<4-1%) | ||
| HP:0012731 | Ectopic anterior pituitary gland | |
| HP:0011755 | Ectopic posterior pituitary | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 9462743[PMID]_15800844[PMID]_26733480[PMID]_25955177[PMID]_16735499[PMID]_20685856[PMID]_18728160[PMID]_8768831[PMID]_10835633[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90695
- This record as JSON: /data/d/90695.json