ORPHA:85279
KDM5C-related syndromic X-linked intellectual disability
Synonyms: Claes-Jensen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KDM5C-related syndromic X-linked intellectual disability | Claes-Jensen syndrome |
| fr | Déficience intellectuelle liée à l'X syndromique associée à KDM5C | Syndrome de Claes-Jensen |
| de | Intelligenzminderung, X-chromosomale, syndromale, KDM5C-assoziierte | Claes-Jensen-Syndrom |
| es | Discapacidad intelectual sindrómica ligada al cromosoma X asociada a KDM5C | Síndrome de Claes-Jensen |
| it | Disabilità intellettiva sindromica legata all'X correlata a KDM5C | Sindrome di Claes-Jensen |
| nl | KDM5C-gerelateerde syndromale X-gebonden intellectuele achterstand | Syndroom van Claes-Jensen |
| pt | Perturbação do desenvolvimento intelectual sindromática ligada ao X KDM5C-relacionada | |
| pl | Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X z powodu mutacji JARID1C | Syndromiczna niepełnosprawność intelektualna sprzężona z chromosomem X związana z mutacjami z genie KDM5C |
| cs | Syndromická X-vázaná mentální retardace související s KDM5C | Syndromická mentální retardace způsobená mutací JARID1C |
| uk | Синдромна Х-зчеплена інтелектуальна недостатність, повязана з KDM5C | |
| zh | JARID1C突变所致综合征性X连锁智力残疾 | |
| tr | JARID1C mutasyonuna bağlı sendromik X'e bağlı zihinsel yetersizlik |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300534 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010355 | E | validated | |
| UMLS | C5681493 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KDM5C | Disease-causing germline mutation(s) in | Assessed | HGNC:11114 | ENSG00000126012 | 314690 | Xp11.22 | lysine demethylase 5C | 15586325[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002232 | Patchy alopecia | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001347 | Hyperreflexia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0030084 | Clinodactyly | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0000218 | High palate | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0004279 | Short palm | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21575681[PMID]_19826449[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85279
- This record as JSON: /data/d/85279.json