Pediatric-onset Graves disease
Synonyms: Pediatric-onset Basedow disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pediatric-onset Graves disease | Pediatric-onset Basedow disease |
| fr | Maladie de Basedow à début pédiatrique | Maladie de Graves à début pédiatrique |
| de | Graves-Krankheit mit Beginn im Kindesalter | Morbus Basedow mit Beginn im Kindesalter |
| es | Enfermedad de Graves de inicio pediátrico | Enfermedad de Basedow de inicio pediátrico |
| it | Malattia di Graves a esordio pediatrico | Malattia di Basedow a esordio pediatrico |
| nl | Pediatrische ziekte van Graves | Pediatrische ziekte van Basedow · Ziekte van Basedow met aanvang in de kindertijd · Ziekte van Graves met aanvang in de kindertijd |
| pt | Doença Graves com início na idade pediátrica | |
| pl | Choroba Gravesa ujawniająca się w okresie dziecięcym | Choroba Basedowa ujawniająca się w okresie dziecięcym |
| cs | Gravesova nemoc s nástupem v dětském věku | Basedowova nemoc s nástupem v dětském věku |
| uk | Хвороба Грейвса в дитячому віці | Хвороба Базедова, що починається в дитячому віці |
| zh | 小儿格雷夫斯病 | 小儿Basedow病 |
| tr | Pediatrik başlangıçlı Graves hastalığı | Pediatrik Basedow hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E05.0 | NTBT | attributed | validated |
| ICD-11 | 5A02.0 | NTBT | attributed | validated |
| MONDO | 0033925 | E | validated | |
| UMLS | C5680179 | 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:181399Rare hyperthyroidism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
48 annotations · validated 2019-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0100647 | Graves disease | Diagnostic criterion |
| HP:0031506 | Increased circulating thyroxine level | Diagnostic criterion |
| HP:0011703 | Sinus tachycardia | |
| HP:0011784 | Thyrotoxicosis with diffuse goiter | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0002014 | Diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000712 | Emotional lability | |
| HP:0001508 | Failure to thrive | |
| HP:0031284 | Flushing | |
| HP:0000853 | Goiter | Diagnostic criterion |
| HP:0002240 | Hepatomegaly | |
| HP:0000752 | Hyperactivity | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0011788 | Increased circulating free T3 | |
| HP:0100785 | Insomnia | |
| HP:0000737 | Irritability | |
| HP:0001962 | Palpitations | |
| HP:0001959 | Polydipsia | |
| HP:0002591 | Polyphagia | |
| HP:0000520 | Proptosis | Diagnostic criterion |
| HP:0008373 | Puberty and gonadal disorders | |
| HP:0000237 | Small anterior fontanelle | |
| HP:0001744 | Splenomegaly | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0000708 | Atypical behavior | |
| HP:0001363 | Craniosynostosis | |
| HP:0100534 | Episcleritis | |
| HP:0000822 | Hypertension | |
| HP:0010519 | Increased fetal movement | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000952 | Jaundice | |
| HP:0002017 | Nausea and vomiting | |
| HP:0001562 | Oligohydramnios | |
| HP:0001622 | Premature birth | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0001263 | Global developmental delay | |
| HP:0000491 | Keratitis | |
| HP:0000252 | Microcephaly | |
| HP:0012768 | Neonatal asphyxia | |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | |
| HP:0200028 | Pretibial myxedema | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10447021[PMID]_9814445[PMID]_27978517[PMID]_10447021[PMID]_28381452[PMID]_22031519[PMID]_18628515[PMID]_26980880[PMID]_15069405[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/525731
- This record as JSON: /data/d/525731.json