ORPHA:95494
Combined pituitary hormone deficiencies, genetic forms
Synonyms: Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined pituitary hormone deficiencies, genetic forms | Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms |
| fr | Déficits hypohysaires multiples de cause génétique identifée | Déficits hypohysaires combinés de cause génétique identifée · Hypopituitarisme congenital familial |
| de | Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen | Hypophysenhormon-Mangel, multipler, genetisch bedingte Formen · Hypophysenhormon-Mangel, multipler, genetische Formen · Hypopituitarismus, familiärer · Hypopituitarismus, familiärer kongenitaler |
| es | Deficiencia combinada de hormonas hipofisarias de causa genética | |
| it | Deficit combinati dell'ormone ipofisario, forme genetiche | Deficit multipli dell'ormone ipofisario, forme genetiche · Ipopituitarismo familiare congenito |
| nl | Gecombineerde hypofysehormoondeficiënties, genetische vormen | Familiaal congenitaal hypopituïtarisme · Meervoudige hypofysehormoondeficiënties, genetische vormen |
| pt | Deficiências combinadas de hormonas hipofisárias, formas genéticas | |
| pl | Złożone niedobory hormonów przysadki, formy genetyczne | Rodzinna wrodzona niedoczynność przysadki · Złożone niedobory hormonów przysadki, formy genetyczne |
| cs | Kombinovaný deficit hormonů hypofýzy, genetické formy | Familiární vrozený hypopituitarismus · Mnohočetný deficit hormonů hypofýzy, genetické formy |
| uk | Комбінований дефіцит гормонів гіпофіза, генетично обумовлені форми | Сімейний вроджений гіпопітуїтаризм · Множинна недостатність гормонів гіпофіза, генетичні форми |
| zh | 联合垂体激素缺乏症，遗传型 | 遗传型多发性垂体激素缺乏症 |
| tr | Kombine hipofiz hormonu eksiklikleri, genetik formlar | Ailesel doğumsal hipopituitarizm · Çoklu hipofiz hormonu eksiklikleri, genetik formlar |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182230 | BTNT | validated | |
| OMIM | 262600 | BTNT | validated | |
| OMIM | 613038 | NTBT | validated | |
| OMIM | 613986 | BTNT | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | attributed | validated |
| MONDO | 0013099 | E | validated | |
| UMLS | C4273747 | E | validated | |
| GARD | 10602 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LHX4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21734 | ENSG00000121454 | 602146 | 1q25.2 | LIM homeobox 4 | 25871839[PMID] |
| FOXA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5022 | ENSG00000125798 | 600288 | 20p11.21 | forkhead box A2 | 30414530[PMID] |
| GLI2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4318 | ENSG00000074047 | 165230 | 2q14.2 | GLI family zinc finger 2 | 20685856[PMID] |
| HESX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4877 | ENSG00000163666 | 601802 | 3p14.3 | HESX homeobox 1 | 14561704[PMID] |
| OTX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8522 | ENSG00000165588 | 600037 | 14q22.3 | orthodenticle homeobox 2 | 18728160[PMID] |
| POU1F1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9210 | ENSG00000064835 | 173110 | 3p11.2 | POU class 1 homeobox 1 | 15670191[PMID] |
| PROP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9455 | ENSG00000175325 | 601538 | 5q35.3 | PROP paired-like homeobox 1 | 9462743[PMID] |
5
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.
6
HPO phenotypes
39 annotations · validated 2016-07-06| 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:0010626 | Anterior pituitary agenesis | |
| 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:0000938 | Osteopenia | |
| HP:0008245 | Pituitary hypothyroidism | |
| Occasional (29-5%) | ||
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0002019 | Constipation | |
| HP:0000823 | Delayed puberty | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005625 | Osteoporosis of vertebrae | |
| HP:0000839 | Pituitary dwarfism | |
| Very rare (<4-1%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0004637 | Decreased cervical spine mobility | |
| HP:0012731 | Ectopic anterior pituitary gland | |
| HP:0011755 | Ectopic posterior pituitary | |
| HP:0001360 | Holoprosencephaly | |
| HP:0009099 | Median cleft palate | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0010442 | Polydactyly | |
| HP:0001250 | Seizure | |
| HP:0100842 | Septo-optic dysplasia | |
| HP:0011344 | Severe global developmental delay | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26733480[PMID]_25955177[PMID]_16735499[PMID]_20685856[PMID]_18728160[PMID]_8768831[PMID]_10835633[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95494
- This record as JSON: /data/d/95494.json