ORPHA:631
Non-acquired isolated growth hormone deficiency
Synonyms: Congenital IGHD · Congenital isolated GH deficiency · Congenital isolated growth hormone deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare non-acquired pituitary hormone deficiency characterized by growth deficiency, delayed bone age, and short stature of variable severity and age of onset, and with variable response to treatment with recombinant human growth hormone, depending on the respective subtype of the disease. Hormone deficiency may be quantitative or qualitative in nature.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-acquired isolated growth hormone deficiency | Congenital IGHD · Congenital isolated GH deficiency · Congenital isolated growth hormone deficiency |
| fr | Insuffisance somatotrope non acquise isolée | Déficit congénital isolé en STH · Déficit congénital isolé en hormone de croissance |
| de | Wachstumshormonmangel, isolierter, nicht erworbener | GH-Mangel, isolierter kongenitaler · IGHD, kongenital · Wachstumshormonmangel, isolierter kongenitaler |
| es | Deficiencia aislada no adquirida de la hormona de crecimiento | Deficiencia aislada congénita de la GH · Deficiencia aislada congénita de la hormona de crecimiento · IGHD congénito |
| it | Deficit isolato dell'ormone della crescita non acquisito | Deficit congenito isolato dell'ormone della crescita · Deficiti congenito di GH isolato · IGHD congenito |
| nl | Niet-verworven geïsoleerde groeihormoondeficiëntie | Congenitale IGHD · Congenitale geïsoleerde GH-deficiëntie · Congenitale geïsoleerde groeihormoondeficiëntie |
| pt | Deficiência de hormona do crescimento isolada não-adquirida | Nanismo hipofisário · Nanismo por deficiência isolada de hormona do crescimento · Nanismo primário |
| pl | Izolowany Niedobór hormonu wzrostu | Wrodzony IGHD · Wrodzony izolowany Niedobór GH · Wrodzony izolowany Niedobór hormonu wzrostu |
| cs | Nezískaný izolovaný deficit růstového hormonu | Vrozený IGHD · Vrozený izolovaný deficit GH · Vrozený izolovaný deficit růstového hormonu |
| uk | Ненабутий ізольований дефіцит гормону росту | Вроджений IGHD · Вроджений ізольований дефіцит ГР · Вроджений ізольований дефіцит гормону росту |
| zh | 非获得性孤立型生长激素缺乏症 | 先天性孤立型生长激素缺乏症 |
| tr | Edinsel olmayan izole büyüme hormonu eksikliği | Doğumsal IGHD · Doğumsal izole GH eksikliği · Doğumsal izole büyüme hormonu eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 173100 | BTNT | validated | |
| OMIM | 262400 | BTNT | validated | |
| OMIM | 262650 | BTNT | validated | |
| OMIM | 300123 | BTNT | validated | |
| OMIM | 307200 | BTNT | validated | |
| OMIM | 612781 | BTNT | validated | |
| ICD-10 | E23.0 | NTBT | inclusion | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0000050 | E | validated | |
| UMLS | C5679572 | E | validated | |
| GARD | 12556 | E | validated | |
| MedDRA | 10035083 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95488Non-acquired pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases
Children (6):
- ORPHA:231662Isolated growth hormone deficiency type IA
- ORPHA:231671Isolated growth hormone deficiency type IB
- ORPHA:231679Isolated growth hormone deficiency type II
- ORPHA:231692Isolated growth hormone deficiency type III
- ORPHA:684247Isolated growth hormone deficiency type IV
- ORPHA:629Short stature due to growth hormone qualitative anomaly
4
Genes
0 direct · 7 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| POU1F1 | ORPHA:231679Isolated growth hormone deficiency type II | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9210 | ENSG00000064835 | 173110 | 3p11.2 | POU class 1 homeobox 1 | 26612202[PMID] |
| GH1 | ORPHA:629Short stature due to growth hormone qualitative anomaly | Disease-causing germline mutation(s) in | Assessed | HGNC:4261 | ENSG00000259384 | 139250 | 17q23.3 | growth hormone 1 | 8552145[PMID]_9276733[PMID]_15713716[PMID] |
| GH1 | ORPHA:231662Isolated growth hormone deficiency type IA | Disease-causing germline mutation(s) in | Assessed | HGNC:4261 | ENSG00000259384 | 139250 | 17q23.3 | growth hormone 1 | 19762173[PMID]_22139958[PMID] |
| GH1 | ORPHA:231671Isolated growth hormone deficiency type IB | Disease-causing germline mutation(s) in | Assessed | HGNC:4261 | ENSG00000259384 | 139250 | 17q23.3 | growth hormone 1 | 19762173[PMID]_22139958[PMID] |
| GH1 | ORPHA:231679Isolated growth hormone deficiency type II | Disease-causing germline mutation(s) in | Assessed | HGNC:4261 | ENSG00000259384 | 139250 | 17q23.3 | growth hormone 1 | 19762173[PMID]_22139958[PMID] |
| GHRHR | ORPHA:684247Isolated growth hormone deficiency type IV | Disease-causing germline mutation(s) in | Assessed | HGNC:4266 | ENSG00000106128 | 139191 | 7p14.3 | growth hormone releasing hormone receptor | 36960394[PMID] |
| RNPC3 | ORPHA:231662Isolated growth hormone deficiency type IA | Disease-causing germline mutation(s) in | Assessed | HGNC:18666 | ENSG00000185946 | 618016 | 1p21.1 | RNA binding region (RNP1, RRM) containing 3 | 24480542[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | 22851490[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
19 annotations · validated 2024-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000830 | Anterior hypopituitarism | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0012743 | Abdominal obesity | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000823 | Delayed puberty | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000295 | Doll-like facies | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0100678 | Premature skin wrinkling | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0011220 | Prominent forehead | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0002857 | Genu valgum | |
| HP:0030260 | Microphallus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30576428[PMID]_27974187[PMID]_24450934[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/631
- This record as JSON: /data/d/631.json