ORPHA:699599
ICHAD syndrome
Synonyms: Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ICHAD syndrome | Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome |
| fr | Syndrome ICHAD | Syndrome de dérèglement immunitaire-anomalies craniofaciales-surdité-athélie-retard de développement |
| de | ICHAD-Syndrom | Immunregulationsstörung-kraniofaziale Anomalien-Hörbeeinträchtigung-Athelie-Entwicklungsverzögerung-Syndrom |
| es | Síndrome ICHAD | Síndrome de desregulación inmunológica-anomalías craneofaciales-defecto auditivo-atelia-retraso del desarrollo |
| it | Sindrome ICHAD | Sindrome disregolazione immunitaria-anomalie craniofacciali-ipoacusia-atelia-ritardo dello sviluppo |
| nl | ICHAD-syndroom | Immuundisregulatie - craniofaciale anomalieën - gehoorverlies - athelie - ontwikkelingsachterstand-syndroom |
| pt | ICHAD syndrome | |
| pl | ICHAD syndrome | = en |
| cs | ICHAD syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621234 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKZF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13177 | ENSG00000030419 | 606234 | 2q34 | IKAROS family zinc finger 2 | 37316189[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699599
- This record as JSON: /data/d/699599.json