ORPHA:778
Rett syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy
- Status
- active
A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rett syndrome | |
| fr | Syndrome de Rett | |
| de | Rett-Syndrom | |
| es | Síndrome de Rett | |
| it | Sindrome di Rett | |
| nl | Syndroom van Rett | |
| pt | Síndrome Rett | |
| pl | Zespół Retta | |
| cs | Rettův syndrom | |
| uk | Синдром Ретта | |
| zh | Rett综合征 | |
| tr | Rett sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312750 | E | validated | |
| ICD-10 | F84.2 | E | specific | validated |
| ICD-11 | LD90.4 | E | specific | validated |
| MONDO | 0010726 | E | validated | |
| MeSH | D015518 | E | validated | |
| UMLS | C0035372 | E | validated | |
| GARD | 5696 | E | validated | |
| MedDRA | 10077709 | 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 (4):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:306765Motor stereotypies
rare genetic diseases; rare neurological diseases - ORPHA:168778Rare pervasive developmental disorder
rare genetic diseases; rare neurological 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 |
|---|---|---|---|---|---|---|---|---|
| MECP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 20301670[PMID] |
5
Prevalence and incidence
11 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Not yet validated | 12378695[PMID]_21878110[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2019[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | France | Class only | Not yet validated | 16647997[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Sweden | Value and class | Not yet validated | 3571139[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Japan | Class only | Not yet validated | 2803793[PMID] |
| Prevalence at birth | 1-9 / 100 000 | — | United States | Class only | Not yet validated | 2063900[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.6 / 100 000 | United Kingdom | Value and class | Validated | National Congenital Anomaly and Rare Disease OTHERistration Service 2017[OTHER]_3087206[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.05 / 100 000 | Australia | Value and class | Not yet validated | 21587099[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Australia | Class only | Not yet validated | 21587099[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Hong Kong | Class only | Not yet validated | 18174559[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.
6
HPO phenotypes
36 annotations · validated 2024-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | Diagnostic criterion |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0001344 | Absent speech | |
| HP:0002376 | Developmental regression | Diagnostic criterion |
| HP:0001288 | Gait disturbance | Diagnostic criterion |
| HP:0001263 | Global developmental delay | |
| HP:0025430 | High-pitched cry | |
| HP:0007064 | Progressive language deterioration | Diagnostic criterion |
| HP:0000253 | Progressive microcephaly | |
| HP:0012171 | Stereotypical hand wringing | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0003808 | Abnormal muscle tone | Diagnostic criterion |
| HP:0002067 | Bradykinesia | |
| HP:0003763 | Bruxism | Diagnostic criterion |
| HP:0033850 | Coldness | Diagnostic criterion |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0001510 | Growth delay | Diagnostic criterion |
| HP:0030217 | Limb apraxia | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | |
| HP:0012332 | Abnormal autonomic nervous system physiology | Diagnostic criterion |
| HP:0000713 | Agitation | |
| HP:0001082 | Cholecystitis | |
| HP:0008947 | Floppy infant | |
| HP:0001987 | Hyperammonemia | |
| HP:0002540 | Inability to walk | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003542 | Increased circulating pyruvate concentration | |
| HP:0031793 | Increased serum leptin | |
| HP:0002650 | Scoliosis | Diagnostic criterion |
| HP:0002360 | Sleep abnormality | Diagnostic criterion |
| Very rare (<4-1%) | ||
| HP:0011451 | Primary microcephaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 20301670[PMID]_31645864[PMID]_29445033[PMID]_30648368[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/778
- This record as JSON: /data/d/778.json