Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Synonyms: CIMDAG syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | CIMDAG syndrome |
| fr | Syndrome d'hypoplasie cérébelleuse-déficience intellectuelle-microcéphalie congénitale-dystonie-anémie-retard de croissance | Syndrome CIMDAG |
| de | Zerebelläre Hypoplasie-Intelligenzminderung-kongenitale Mikrozephalie-Dystonie-Anämie-Wachstumsstörung-Syndrom | CIMDAG-Syndrom |
| es | Síndrome de hipoplasia cerebelosa-discapacidad intelectual-microcefalia congénita-distonía-anemia-retraso del crecimiento | Síndrome CIMDAG |
| it | Sindrome da ipoplasia cerebellare-disabilità intellettiva-microcefalia congenita-distonia-anemia-ritardo della crescita | Sindrome CIMDAG |
| nl | Cerebellaire hypoplasie - intellectuele achterstand - congenitale microcefalie - dystonie - anemie - groeiretardatie-syndroom | CIMDAG-syndroom |
| pt | Síndrome de hipoplasia cerebelosa-perturbação do desenvolvimento intelectual-microcefalia congénita-distonia-anemia-atraso do crescimento | Síndrome CIMDAG |
| pl | Zespół niedorozwoju móżdżku-niepełnosprawności intelektualnej-wrodzonego małogłowia-dystonii-niedokrwistości-opóźnienia rozwoju | = en |
| cs | Syndrom zahrnující cerebelární hypoplázii, mentální retardaci, vrozenou mikrocefalii, dystonii, anémii a růstovou retardaci | = en |
| uk | Синдром гіпоплазії мозочка-інтелектуальної недостатності-вродженої мікроцефалії-дистонії-анемії-затримки росту | Синдром CIMDAG |
| tr | Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619273 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0035819 | E | validated | |
| UMLS | C5543287 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VPS4A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13488 | ENSG00000132612 | 609982 | 16q23.1 | vacuolar protein sorting 4 homolog A | 33186545[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 33186543[PMID]_33186545[PMID]_33460484[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33186543[PMID]_33186545[PMID]_33460484[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/603448
- This record as JSON: /data/d/603448.json