PEHO-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PEHO-like syndrome | |
| fr | Syndrome PEHO-like | |
| de | PEHO-ähnliches Syndrom | |
| es | Síndrome tipo PEHO | Síndrome PEHO-like |
| it | Sindrome PEHO-simile | |
| nl | PEHO-achtig syndroom | |
| pt | Síndrome PEHO-like | |
| pl | Zespół podobny do PEHO | |
| cs | PEHO-like syndrom | |
| uk | PEHO-подібний синдром | |
| zh | 类PEHO综合征 | |
| tr | PEHO benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617507 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0020495 | E | validated | |
| UMLS | C1850056 | 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 (2):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC88A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25523 | ENSG00000115355 | 609736 | 2p16.1 | coiled-coil and HOOK domain protein 88A | 26917597[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 8723564[PMID]_12868478[PMID]_12949965[PMID]_15968934[PMID]_22408680[PMID]_12818526[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15968934[PMID]_22408680[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99807
- This record as JSON: /data/d/99807.json