ORPHA:633
Laron syndrome
Synonyms: Complete growth hormone insensitivity · GH receptor deficiency · Growth hormone receptor deficiency · Laron-type dwarfism · Primary GH insensitivity · Primary GH resistance · Primary growth hormone insensitivity · Primary growth hormone resistance · Short stature due to growth hormone resistance
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laron syndrome | Complete growth hormone insensitivity · GH receptor deficiency · Growth hormone receptor deficiency · Laron-type dwarfism · Primary GH insensitivity · Primary GH resistance · Primary growth hormone insensitivity · Primary growth hormone resistance · Short stature due to growth hormone resistance |
| fr | Syndrome de Laron | Déficit du récepteur à l'hormone de croissance · Insensibilité complète à l'hormone de croissance · Insensibilité primaire à l'hormone de croissance · Nanisme type Laron · Résistance primaire à l'hormone de croissance |
| de | Laron-Syndrom | GH-Insensitivität, primäre · GH-Resistenz, primäre · GH-Rezeptor-Mangel · Kleinwuchs durch Wachstumshormonresistenz · Kleinwuchs, Typ Laron · Wachstumshormon-Insensitivität, komplette · Wachstumshormon-Insensitivität, primäre · Wachstumshormon-Resistenz, primäre · Wachstumshormon-Rezeptor-Mangel |
| es | Síndrome de Laron | Resistencia primaria a la hormona del crecimiento · Talla baja por resistencia a la hormona del crecimiento · Deficiencia de receptor de la GH · Deficiencia de receptor de la hormona de crecimiento · Enanismo tipo Laron · Insensibilidad completa a la hormona del crecimiento · Insensibilidad primaria a la GH · Insensibilidad primaria a la hormona del crecimiento · Resistencia primaria a la GH |
| it | Sindrome di Laron | Bassa statura da resistenza all'ormone della crescita · Deficit del recettore dell'ormone della crescita · Deficit del recettore di GH · Insensibilità primaria al GH · Insensibilità primaria all'ormone della crescita · Nanismo, tipo Laron · Resistenza completa all'ormone della crescita · Resistenza primaria al GH · Resistenza primaria all'ormone della crescita |
| nl | Syndroom van Laron | Deficiëntie van groeihormoonreceptor · Dwerggroei, Laron-type · GH-receptordeficiëntie · Kleine gestalte door resistentie tegen groeihormoon · Primaire GH-insensitiviteit · Primaire GH-resistentie · Primaire insensitiviteit voor groeihormoon · Primaire resistentie tegen groeihormoon · Volledige insensitiviteit voor groeihormoon |
| pt | Síndrome Laron | Baixa estatura por resistência à hormona do crescimento · Deficiência de recetor GH · Deficiência de recetor de hormona do crescimento · Insensibilidade GH primária · Insensibilidade completa à hormona do crescimento · Nanismo tipo Laron · Resistência GH primária |
| pl | Zespół Larona | Całkowita niewrażliwość na hormon wzrostu · Karłowatość typu Larona · Niedobór receptora dla hormonu wzrostu · Niedobór receptora GH · Niski wzrost spowodawany opornością na hormon wzrostu · Pierwotna niewrażliwość na GH · Pierwotna niewrażliwość na hormon wzrostu · Pierwotna oporność na GH · Pierwotna oporność na hormon wzrostu |
| cs | Laronův syndrom | Deficit GH receptoru · Primární necitlivost k GH · Primární GH rezistence · Kompletní necitlivost k růstovému hormonu · Deficit receptoru pro růstový hormon · Laronův typ nanismu · Primární necitlivost k růstovému hormonu · Primární rezistence k růstovému hormonu · Malý vzrůst kvůli rezistenci na růstový hormon |
| uk | Синдром Ларона | Повна нечутливість до гормону росту · Дефіцит рецепторів гормону росту · Дефіцит рецепторів гормону росту · Карликовість ларонського типу · Первинна нечутливість до GH · Первинна стійкість до GH · Первинна нечутливість до гормону росту · Первинна резистентність до гормону росту · Низький зріст через резистентність до гормону росту |
| zh | Laron综合征 | 生长激素抵抗所致矮小 |
| tr | Laron sendromu | Laron tipi cücelik · Primer GH direnci · GH reseptör eksikliği · Primer GH duyarsızlığı · Primer büyüme hormonu direnci · Büyüme hormonu reseptör eksikliği · Primer büyüme hormonu duyarsızlığı · Tam büyüme hormonu duyarsızlığı · Büyüme hormonu direncine bağlı kısa boy |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262500 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0009877 | E | validated | |
| MeSH | D046150 | E | validated | |
| UMLS | C0271568 | E | validated | |
| GARD | 6859 | E | validated | |
| MedDRA | 10075492 | 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 (1):
- ORPHA:181393Growth hormone insensitivity syndrome
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GHR | Disease-causing germline mutation(s) in | Assessed | HGNC:4263 | ENSG00000112964 | 600946 | 5p13.1-p12 | growth hormone receptor | 18406284[PMID]_24664892[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2003[OTHER] |
| Point prevalence | 1-9 / 100 000 | 4.86 / 100 000 | China | Value and class | Validated | 34103049[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000348 | High forehead | |
| HP:0005281 | Hypoplastic nasal bridge | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0009804 | Tooth agenesis | |
| HP:0001956 | Truncal obesity | |
| Frequent (79-30%) | ||
| HP:0009811 | Abnormality of the elbow | |
| HP:0001156 | Brachydactyly | |
| HP:0000823 | Delayed puberty | |
| HP:0001943 | Hypoglycemia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001270 | Motor delay | |
| HP:0001831 | Short toe | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| Occasional (29-5%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000592 | Blue sclerae | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000966 | Hypohidrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0002758 | Osteoarthritis | |
| HP:0007495 | Prematurely aged appearance | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633
- This record as JSON: /data/d/633.json