X-linked intellectual disability, Hedera type
Synonyms: MRXSH
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability, Hedera type | MRXSH |
| fr | Déficience intellectuelle liée à l'X type Hedera | = en |
| de | Intelligenzminderung, X-chromosomale, Typ Hedera | = en |
| es | Discapacidad intelectual ligada al cromosoma X tipo Hedera | |
| it | Disabilità intellettiva legata all'X, tipo Hedera | = en |
| nl | X-gebonden intellectuele achterstand, Hedera-type | = en |
| pt | Perturbação do desenvolvimento intelectual ligada ao X, tipo Hedera | = en |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X, typ Hedera | = en |
| cs | X-vázaná mentální retardace, Hederův typ | = en |
| uk | Х-зчеплена розумова відсталість, тип Хедера | = en |
| zh | X-连锁智力障碍， Hedera型 | = en |
| tr | X'e bağlı zihinsel yetersizlik, Hedera tipi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300423 | E | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010319 | E | validated | |
| MeSH | C564516 | E | validated | |
| UMLS | C1845543 | 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:2076X-linked intellectual disability-epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP6AP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:18305 | ENSG00000182220 | 300556 | Xp11.4 | ATPase H+ transporting accessory protein 2 | 15746149[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 26467484[PMID]_11782983[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26467484[PMID]_11782983[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.
HPO phenotypes
31 annotations · validated 2019-04-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0000750 | Delayed speech and language development | |
| HP:0007076 | Extrapyramidal muscular rigidity | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0012391 | Hyporeflexia of upper limbs | |
| HP:0001270 | Motor delay | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0002345 | Action tremor | |
| HP:0011812 | Agraphesthesia | |
| HP:0002186 | Apraxia | |
| HP:0010527 | Astereognosia | |
| HP:0003487 | Babinski sign | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002307 | Drooling | |
| HP:0001310 | Dysmetria | |
| HP:0010529 | Echolalia | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0000338 | Hypomimic face | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002540 | Inability to walk | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001513 | Obesity | |
| HP:0001763 | Pes planus | |
| HP:0002650 | Scoliosis | |
| HP:0001350 | Slurred speech | |
| HP:0001621 | Weak voice | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26467484[PMID]_11782983[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93952
- This record as JSON: /data/d/93952.json