Short stature due to primary acid-labile subunit deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare growth hormone insensitivity syndrome characterized by moderate postnatal growth delay, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), normal response to growth hormone stimulation test, and insulin insensitivity marked by normal glucose levels and hyperinsulinemia. Additional findings may include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, delayed puberty and bone maturation, and reduced bone mineral density in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature due to primary acid-labile subunit deficiency | |
| fr | Petite taille par déficit primaire en sous-unité acide labile | |
| de | Kleinwuchs durch primären Mangel der säurelabilen Untereinheit | |
| es | Talla baja por deficiencia primaria de subunidad ácido-lábil | |
| it | Bassa statura da deficit primitivo della subunità acido-labile | |
| nl | Kleine gestalte door primaire deficiëntie van zuurlabiele subeenheid | |
| pt | Baixa estatura por deficiência primária da subunidade ácido-lábil | |
| pl | Niski wzrost z powodu niedoboru pierwotnej labilnej kwasowo podjednostki | |
| cs | Malý vzrůst způsobený primárním deficitem acido-labilní podjednotky | |
| uk | Низькорослість через дефіцит первинної кислотолабільної субодиниці | |
| zh | 原发性酸不稳定亚单位缺乏所致矮小 | |
| tr | Primer aside dayanıksız alt birim eksikliği kaynaklı kısa boy |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615961 | E | validated | |
| ICD-10 | E34.3 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0014420 | E | validated | |
| UMLS | C4303612 | 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 (1):
- ORPHA:181393Growth hormone insensitivity syndrome
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGFALS | Disease-causing germline mutation(s) in | Assessed | HGNC:5468 | ENSG00000099769 | 601489 | 16p13.3 | insulin like growth factor binding protein acid labile subunit | 21396577[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | 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
11 annotations · validated 2026-05-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001510 | Growth delay | |
| HP:0008855 | Moderate postnatal growth retardation | |
| HP:0045046 | Reduced insulin like growth factor binding protein acid labile subunit concentration | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000823 | Delayed puberty | |
| HP:0008189 | Insulin insensitivity | |
| Occasional (29-5%) | ||
| HP:0040195 | Decreased head circumference | |
| HP:0004349 | Reduced bone mineral density | |
| HP:6000404 | Reduced circulating insulin-like growth factor 2 concentration | |
| Excluded (0%) | ||
| HP:0034323 | Reduced circulating growth hormone concentration | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20389102[PMID]_19729943[PMID]_21396577[PMID]_28737870[PMID]_39475135[PMID]_17726072[PMID]_14762184[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140941
- This record as JSON: /data/d/140941.json