ORPHA:85282
MEHMO syndrome
Synonyms: X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MEHMO syndrome | X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome |
| fr | Syndrome de MEHMO | Syndrome de déficience intellectuelle liée à l'X-épilepsie-hypogénitalisme-microcéphalie-obésité |
| de | MEHMO-Syndrom | Syndromale Intelligenzminderung mit epileptische Krampfanfällen, Mikrozephalie, Hypogenitalismus und Adipositas |
| es | Síndrome MEHMO | Síndrome de discapacidad intelectual-crisis epilépticas-hipogenitalismo-microcefalia-obesidad ligado al cromosoma X |
| it | Sindrome MEHMO | Ritardo mentale legato all'X - crisi epilettiche - ipogenitalismo - microcefalia - obesità · Sindrome disabilità intellettiva legata all'X-crisi epilettiche-ipogenitalismo- microcefalia-obesità |
| nl | MEHMO-syndroom | X-gebonden intellectuele achterstand - epileptische aanvallen - hypogenitalisme - microcefalie - obesitas-syndroom |
| pt | Síndrome MEHMO | Síndrome de perturbação do desenvolvimento intelectual-convulsões epilépticas-hipogenitalismo-microcefalia-obesidade ligada ao cromossoma X |
| pl | Zespół MEHMO | Niepełnosprawność intelektualna sprzężona z chromosomem X - napady padaczkowe - niedorozwój narządów płciowych - małogłowie - otyłość |
| cs | MEHMO syndrom | X-vázaný syndrom zahrnující mentální retardaci, epileptické záchvaty, hypogenitalismus, mikrocefalii a obezitu |
| uk | Синдром МЕНМО | Х-зчеплений синдром розумової відсталості - епілептичних нападів - гіпогеніталізму - мікроцефалії - ожиріння |
| zh | MEHMO综合征 | X-连锁智力障碍-癫痫性发作-生殖腺发育不全-小头畸形-肥胖综合征 |
| tr | MEHMO sendromu | X'e bağlı zihinsel yetersizlik-epileptik nöbetler-hipogenitalizm-mikrosefali-obezite sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300148 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD29 | NTBT | index | validated |
| MONDO | 0010258 | E | validated | |
| MeSH | C537451 | E | validated | |
| UMLS | C1846278 | E | validated | |
| GARD | 9178 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF2S3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3267 | ENSG00000130741 | 300161 | Xp22.11 | eukaryotic translation initiation factor 2 subunit gamma | 28055140[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 12032729[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12032729[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:0000028 | Cryptorchidism | |
| HP:0002353 | EEG abnormality | |
| HP:0003241 | External genital hypoplasia | |
| HP:0001510 | Growth delay | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0009748 | Large earlobe | |
| HP:0000252 | Microcephaly | |
| HP:0000054 | Micropenis | |
| HP:0001513 | Obesity | |
| HP:0000311 | Round face | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000340 | Sloping forehead | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0000713 | Agitation | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000293 | Full cheeks | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| Occasional (29-5%) | ||
| HP:0000819 | Diabetes mellitus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 10482947[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85282
- This record as JSON: /data/d/85282.json