Growth delay due to insulin-like growth factor I resistance
Synonyms: Resistance to IGF-1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth delay due to insulin-like growth factor I resistance | Resistance to IGF-1 |
| fr | Retard de croissance par résistance au facteur de croissance analogue à l'insuline type 1 | Résistance à l'IGF-1 |
| de | Wachstumsverzögerung durch IGF-1-Resistenz | IGF-1-Resistenz · Insulin-ähnlicher Wachstumsfaktor 1-Resistenz |
| es | Retraso del crecimiento por resistencia al factor de crecimiento similar a la insulina tipo 1 | Retraso del crecimiento por resistencia al factor de crecimiento insulina-like tipo 1 |
| it | Ritardo della crescita da resistenza al fattore di crescita 1 insulino-simile | Resistenza a IGF-1 |
| nl | Groeiachterstand door insulineachtige groeifactor I-resistentie | Resistentie tegen IGF-1 |
| pt | Atraso de crescimento por resistência ao fator de crescimento insulina-like I | Resistência ao IGF-1 |
| pl | Opóźnienie wzrostu z powodu oporności na czynnik wzrost podobny do insuliny typu I | Oporność na IGF-1 |
| cs | Opožděný růst způsobený rezistencí na růstový faktor I podobný inzulinu | IGF-1 rezistence |
| uk | Затримка росту через резистентність до інсуліноподібного фактора росту I | Резистентність до ІФР-1 |
| zh | 胰岛素样生长因子1型抵抗所致发育迟缓 | IGF-1抵抗 |
| tr | İnsülin benzeri büyüme faktörü I direncine bağlı büyüme gecikmesi | IGF-1'e direnç |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270450 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0010038 | E | validated | |
| MeSH | C564816 | E | validated | |
| UMLS | C1849157 | E | validated | |
| GARD | 10609 | 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:181393Growth hormone insensitivity syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGF1R | Disease-causing germline mutation(s) in | Assessed | HGNC:5465 | ENSG00000140443 | 147370 | 15q26.3 | insulin like growth factor 1 receptor | 14657428[PMID] |
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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000455 | Broad nasal tip | |
| HP:0030084 | Clinodactyly | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0000767 | Pectus excavatum | |
| HP:0004279 | Short palm | |
| HP:0000319 | Smooth philtrum | |
| HP:0000233 | Thin vermilion border | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73273
- This record as JSON: /data/d/73273.json