ORPHA:220465
Laron syndrome with immunodeficiency
Synonyms: Laron-like syndrome · Short stature due to STAT5b deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
This syndrome is characterized by severe growth retardation associated with immunodeficiency.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laron syndrome with immunodeficiency | Laron-like syndrome · Short stature due to STAT5b deficiency |
| fr | Syndrome de Laron avec déficit immunitaire | Petite taille par déficit en Stat5b · Syndrome Laron-like |
| de | Laron-Syndrom mit Immundefekt | Kleinwuchs durch STAT5b-Mangel · Laron-ähnliches Syndrom |
| es | Síndrome de Laron con inmunodeficiencia | Síndrome similar a Laron · Talla baja por deficiencia de STAT5b |
| it | Sindrome di Laron con immunodeficienza | Sindrome Laron-simile · Statura bassa da deficit di STAT5b |
| nl | Syndroom van Laron met immuundeficiëntie | Kleine gestalte door STAT5b-deficiëntie · Laron-achtig syndroom |
| pt | Síndrome Laron com imunodeficiência | |
| pl | Zespół Larona z niedoborem odporności | Niski wzrost z powodu niedoboru STAT5b · Zespół podobny do zespołu Larona |
| cs | Laronův syndrom s imunodeficiencí | Laron-like syndrom · Nízký vzrůst způsobený deficitem STAT5b |
| uk | Синдром Ларона з імунодефіцитом | Ларон-подібний синдром · Низький зріст через дефіцит STAT5b |
| zh | Laron综合征伴免疫缺陷 | STAT5b基因缺陷所致身材矮小 |
| tr | İmmün yetmezlik ile seyreden Laron sendromu | Laron benzeri sendrom · STAT5b eksikliğine bağlı kısa boy |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245590 | BTNT | validated | |
| OMIM | 618985 | BTNT | validated | |
| ICD-10 | D82.2 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| UMLS | C4510411 | 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 (3):
- ORPHA:181393Growth hormone insensitivity syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:522043Syndromic autoimmune enteropathy
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT5B | Disease-causing germline mutation(s) in | Assessed | HGNC:11367 | ENSG00000173757 | 604260 | 17q21.2 | signal transducer and activator of transcription 5B | 22419735[PMID]_29844444[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
27 annotations · validated 2025-12-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0008850 | Severe postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0006528 | Chronic lung disease | |
| HP:0000823 | Delayed puberty | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0000870 | Increased circulating prolactin concentration | |
| HP:0006527 | Lymphocytic interstitial pneumonia | |
| HP:0003799 | Marked delay in bone age | |
| HP:0011220 | Prominent forehead | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0045046 | Reduced insulin like growth factor binding protein acid labile subunit concentration | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0002608 | Celiac disease | |
| HP:0002028 | Chronic diarrhea | |
| HP:0005403 | Decreased total T cell count | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0005681 | Juvenile rheumatoid arthritis | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0005353 | Recurrent herpes | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0032170 | Severe varicella zoster infection | |
| Excluded (0%) | ||
| HP:0034323 | Reduced circulating growth hormone concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33122102[PMID]_25753012[PMID]_21396575[PMID]_37008935[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220465
- This record as JSON: /data/d/220465.json