Atypical Rett syndrome
Synonyms: Atypical RTT · Rett syndrome variant
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atypical Rett syndrome | Atypical RTT · Rett syndrome variant |
| fr | Syndrome de Rett atypique | RTT atypique · Syndrome Rett-like · Variant du syndrome de Rett |
| de | Rett-Syndrom, atypisches | Atypisches RTT · Rett-Syndrom, Variante |
| es | Síndrome de Rett atípico | RTT atípico · Variante del síndrome de Rett |
| it | Sindrome di Rett, forma atipica | RTT atipica · Sindrome Rett-simile · Variante della sindrome di Rett |
| nl | Atypisch syndroom van Rett | Atypisch RTT · Variant van syndroom van Rett |
| pt | Síndrome Rett atípico | RTT atípico · Variante da síndrome Rett |
| pl | Atypowy zespół Retta | Atypowy RTT · Wariant zespołu Retta |
| cs | Atypický Rettův syndrom | Atypický RTT · Varianta Rettova syndromu |
| uk | Атиповий синдром Ретта | Нетиповий RTT · Варіант синдрому Ретта |
| zh | 非典型Rett综合征 | Rett综合征变体 |
| tr | Atipik Rett sendromu | Atipik RTT · Rett sendromu varyantı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300672 | BTNT | validated | |
| OMIM | 312750 | NTBT | validated | |
| OMIM | 617903 | NTBT | validated | |
| OMIM | 617904 | NTBT | validated | |
| ICD-10 | F84.2 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0017746 | E | validated | |
| MeSH | C567576 | E | validated | |
| UMLS | C2748910 | E | validated | |
| GARD | 4694 | 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 (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.
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKL5 | Disease-causing germline mutation(s) in | Assessed | HGNC:11411 | ENSG00000008086 | 300203 | Xp22.13 | cyclin dependent kinase like 5 | 22196487[PMID]_22787626[PMID] |
| GABBR2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4507 | ENSG00000136928 | 607340 | 9q22.33 | gamma-aminobutyric acid type B receptor subunit 2 | 28856709[PMID] |
| MECP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6990 | ENSG00000169057 | 300005 | Xq28 | methyl-CpG binding protein 2 | 20301670[PMID] |
| NTNG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23319 | ENSG00000162631 | 608818 | 1p13.3 | netrin G1 | 17903671[PMID] |
| SMC1A | Disease-causing germline mutation(s) in | Assessed | HGNC:11111 | ENSG00000072501 | 300040 | Xp11.22 | structural maintenance of chromosomes 1A | 32222533[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 32984552[PMID]_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
54 annotations · validated 2020-06-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0100022 | Abnormality of movement | |
| HP:0000713 | Agitation | |
| HP:0000729 | Autistic behavior | |
| HP:0002376 | Developmental regression | |
| HP:0002353 | EEG abnormality | |
| HP:0011968 | Feeding difficulties | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0001249 | Intellectual disability | |
| HP:0004305 | Involuntary movements | |
| HP:0002371 | Loss of speech | |
| HP:0000817 | Reduced eye contact | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0012171 | Stereotypical hand wringing | |
| Frequent (79-30%) | ||
| HP:0003808 | Abnormal muscle tone | |
| HP:0002186 | Apraxia | |
| HP:0001332 | Dystonia | |
| HP:0002876 | Episodic tachypnea | |
| HP:0012719 | Functional abnormality of the gastrointestinal tract | |
| HP:0002066 | Gait ataxia | |
| HP:0032588 | Hand apraxia | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0045084 | Limb myoclonus | |
| HP:0002505 | Loss of ambulation | |
| HP:0002300 | Mutism | |
| HP:0032807 | Neonatal seizure | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000723 | Restrictive behavior | |
| HP:0005484 | Secondary microcephaly | |
| HP:0011344 | Severe global developmental delay | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0001257 | Spasticity | |
| HP:0002882 | Sudden episodic apnea | |
| HP:0100703 | Tongue thrusting | |
| Occasional (29-5%) | ||
| HP:0002194 | Delayed gross motor development | |
| HP:0007281 | Developmental stagnation | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001510 | Growth delay | |
| HP:0007328 | Impaired pain sensation | |
| HP:0030215 | Inappropriate crying | |
| HP:0000748 | Inappropriate laughter | |
| HP:0012469 | Infantile spasms | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002808 | Kyphosis | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0025269 | Panic attack | |
| HP:0025387 | Pill-rolling tremor | |
| HP:0002650 | Scoliosis | |
| HP:0001337 | Tremor | |
| Excluded (0%) | ||
| HP:0007824 | Total ophthalmoplegia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 30929312[PMID]_20301670[PMID]_31049350[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3095
- This record as JSON: /data/d/3095.json