ORPHA:67045
X-linked intellectual disability with isolated growth hormone deficiency
Synonyms: MRGH
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability with isolated growth hormone deficiency | MRGH |
| fr | Syndrome de déficience intellectuelle liée à l'X-déficit isolé en hormone de croissance | |
| de | X-chromosomale Intelligenzminderung mit isoliertem Wachstumshormonmangel | = en |
| es | Discapacidad intelectual ligada al cromosoma X con deficiencia aislada de hormona de crecimiento | |
| it | Disabilità intellettiva legata all'X con deficit isolato dell'ormone della crescita | = en |
| nl | X-gebonden intellectuele achterstand met geïsoleerde groeihormoondeficiëntie | = en |
| pt | Perturbação do desenvolvimento intelectual ligada ao X com deficiência isolada de hormona de crescimento | = en |
| pl | Niepełnosprawność intelektualna sprzężona z płcią z izolowanym niedoborem hormonu wzrostu | = en |
| cs | X-vázaná mentální retardace s izolovaným deficitem růstového hormonu | = en |
| uk | Х-зчеплена розумова відсталість з ізольованим дефіцитом гормону росту | = en |
| zh | X连锁智力残疾伴单发性生长激素缺乏症 | = en |
| tr | İzole büyüme hormonu eksikliği ile seyreden X'e bağlı zihinsel yetersizlik | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300123 | NTBT | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | attributed | validated |
| MONDO | 0019032 | E | validated | |
| MeSH | C564712 | E | validated | |
| UMLS | C1848068 | 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:231692Isolated growth hormone deficiency type III
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 12428212[PMID]_22139958[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 9508246[PMID]_8826446[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9508246[PMID]_8826446[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
14 annotations · validated 2020-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0001249 | Intellectual disability | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0000570 | Abnormal saccadic eye movements | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0011755 | Ectopic posterior pituitary | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0040010 | Small posterior fossa | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 8826446[PMID]_27974184[PMID]_20852587[PMID]_30266296[PMID]_25402377[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/67045
- This record as JSON: /data/d/67045.json