ORPHA:73272
Growth delay due to insulin-like growth factor type 1 deficiency
Synonyms: Growth delay-deafness-intellectual disability syndrome · Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency · Primary insulin-like growth factor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Growth delay due to insulin-like growth factor type 1 deficiency | Growth delay-deafness-intellectual disability syndrome · Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency · Primary insulin-like growth factor deficiency |
| fr | Retard de croissance par déficit du facteur de croissance analogue à l'insuline type 1 | Déficit en IGF-1 · Déficit primaire en facteur de croissance analogue à l'insuline · Syndrome de retard de croissance-surdité-déficience intellectuelle |
| de | Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel | IGF-1-Defizienz · IGF-1-Mangel · Insulin-ähnlicher Wachstumsfaktor-1-Mangel, primärer · Wachstumsverzögerung-Taubheit-Intelligenzminderung-Syndrom |
| es | Retraso del crecimiento por deficiencia del factor de crecimiento similar a la insulina tipo 1 | Deficiencia de IGF-1 · Deficiencia primaria del factor de crecimiento similar a la insulina · Síndrome de retraso del crecimiento-hipoacusia-discapacidad intelectual · Síndrome de retraso del crecimiento-sordera-discapacidad intelectual |
| it | Ritardo della crescita da deficit del fattore di crescita 1 insulino-simile | Sindrome ritardo della crescita-sordità-disabilità intellettiva · Sindromeritardo della crescita-perdita dell'udito-disabilità intellettiva · Deficit di IGF-1 · Deficit primitivo del fattore di crescita insulino-simile · Ritardo della crescita - sordità - deficit cognitivo |
| nl | Groeiachterstand door deficiëntie van insulineachtige groeifactor I | Groeiachterstand - doofheid - intellectuele achterstand-syndroom · Groeiachterstand - gehoorverlies - intellectuele achterstand-syndroom · IGF-1-deficiëntie · Primaire deficiëntie van insulineachtige groeifactor |
| pt | Atraso de crescimento por deficiência de fator de crescimento insulina-like I | Deficiência de IGF-1 · Deficiência primária de fator de crescimento insulina-like · Síndrome de atraso de crescimento-perda auditiva-perturbação do desenvolvimento intelectual · Síndrome de atraso de crescimento-surdez-perturbação do desenvolvimento intelectual |
| pl | Opóźnienie wzrostu z powodu niedoboru czynnika wzrostu podobnego do insuliny typu 1 | Niedobór IGF-1 · Opóźnienie wzrostu - głuchota - niepełnosprawność intelektualna · Pierwotny Niedobór czynnika wzrostu podobnego do insuliny |
| cs | Opožděný růst způsobený deficitem růstového faktoru 1 podobného inzulinu | Deficit IGF-1 · Syndrom zahrnující opožděný růst, hluchotu a mentální postižení · Primární deficit růstového faktoru podobného inzulinu |
| uk | Затримка росту через дефіцит інсуліноподібного фактора росту 1 типу | Синдром затримки росту-глухоти-інтелектуальної недостатності · Синдром затримки росту - втрати слуху - інтелектуальної недостатності · Дефіцит IGF-1 · Первинний дефіцит інсуліноподібного фактора росту |
| zh | 胰岛素样生长因子1型缺乏所致发育迟缓 | 生长延迟-听力丧失-智力障碍综合征 |
| tr | İnsülin benzeri büyüme faktörü tip 1 eksikliğine bağlı büyüme gecikmesi | IGF-1 eksikliği · Primer insülin benzeri büyüme faktörü eksikliği · Büyüme gecikmesi-sağırlık-zihinsel yetersizlik sendromu · Büyüme gecikmesi-işitme kaybı-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608747 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0012110 | E | validated | |
| MeSH | C563867 | E | validated | |
| UMLS | C1837475 | E | validated | |
| GARD | 10627 | 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 (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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5464 | ENSG00000017427 | 147440 | 12q23.2 | insulin like growth factor 1 | 8857020[PMID]_14684690[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24389050[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24389050[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
42 annotations · validated 2017-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0001508 | Failure to thrive | |
| HP:0000752 | Hyperactivity | |
| HP:0000855 | Insulin resistance | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000399 | Prelingual sensorineural hearing impairment | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0008846 | Severe intrauterine growth retardation | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0000736 | Short attention span | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0000153 | Abnormality of the mouth | |
| HP:0030084 | Clinodactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000135 | Hypogonadism | |
| HP:0000347 | Micrognathia | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0000939 | Osteoporosis | |
| HP:0006266 | Small placenta | |
| Occasional (29-5%) | ||
| HP:0000957 | Cafe-au-lait spot | |
| HP:0011120 | Concave nasal ridge | |
| HP:0007911 | Congenital bilateral ptosis | |
| HP:0001943 | Hypoglycemia | |
| HP:0000294 | Low anterior hairline | |
| HP:0002162 | Low posterior hairline | |
| HP:0001270 | Motor delay | |
| HP:0000545 | Myopia | |
| HP:0011220 | Prominent forehead | |
| HP:0000508 | Ptosis | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001956 | Truncal obesity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24389050[PMID]_8857020[PMID]_14684690[PMID]_24243634[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/73272
- This record as JSON: /data/d/73272.json