ORPHA:99742
Amish lethal microcephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amish lethal microcephaly | |
| fr | Microcéphalie létale type Amish | |
| de | Mikrozephalie, letale, Typ Amish | |
| es | Microcefalia letal tipo Amish | |
| it | Microcefalia letale, tipo Amish | |
| nl | Letale microcefalie, Amish-type | |
| pt | Microcefalia, tipo Amish | |
| pl | Śmiertelna mikrocefalia Amiszów | |
| cs | Letální mikrocefalie Amišů | |
| uk | Летальна мікроцефалія амішів | |
| zh | 阿米什致命性小头畸形 | |
| tr | Amish letal mikrosefalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607196 | E | validated | |
| ICD-10 | Q02 | NTBT | attributed | validated |
| ICD-11 | LA05.0 | NTBT | attributed | validated |
| MONDO | 0011790 | E | validated | |
| MeSH | C538247 | E | validated | |
| UMLS | C1846648 | E | validated | |
| GARD | 8606 | 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 (2):
- ORPHA:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A19 | Disease-causing germline mutation(s) in | Assessed | HGNC:14409 | ENSG00000125454 | 606521 | 17q25.1 | solute carrier family 25 member 19 | 20301539[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 200 / 100 000 | Specific population | Value and class | Validated | 12376931[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301539[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.
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HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001522 | Death in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0000737 | Irritability | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000648 | Optic atrophy | |
| HP:0001992 | Organic aciduria | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000340 | Sloping forehead | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001252 | Hypotonia | |
| HP:0002509 | Limb hypertonia | |
| HP:0001339 | Lissencephaly | |
| HP:0000939 | Osteoporosis | |
| HP:0002414 | Spina bifida | |
| HP:0005968 | Temperature instability | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000185 | Cleft soft palate | |
| HP:0001558 | Decreased fetal movement | |
| HP:0004331 | Decreased skull ossification | |
| HP:0002240 | Hepatomegaly | |
| HP:0001376 | Limitation of joint mobility | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20301539[PMID]_20583149[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99742
- This record as JSON: /data/d/99742.json