KLHL7-related Bohring-Opitz-like syndrome
Synonyms: KLHL7-related BOS-like syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KLHL7-related Bohring-Opitz-like syndrome | KLHL7-related BOS-like syndrome |
| fr | Syndrome de Bohring-Opitz-like associé à KLHL7 | Syndrome de BOS-like associé à KLHL7 |
| de | Bohring-Opitz-ähnliches Syndrom, KLHL7-assoziiertes | |
| es | Síndrome similar a Bohring-Opitz asociado a KLHL7 | Síndrome de Bohring-Opitz-like asociado a KLHL7 |
| it | Sindrome simil-Bohring-Opitz correlata a KLHL7 | Sindrome simil-BOS correlata a KLHL7 |
| nl | KLHL7-gerelateerd Bohring-Opitz-achtig syndroom | KLHL7-gerelateerd BOS-achtig syndroom |
| pt | Síndrome Bohring-Opitz-like KLHL7-relacionado | Síndrome BOS-like KLHL7-relacionado |
| pl | Zależny od KLHL7 zespół podobny do Bohring-Opitz | = en |
| cs | Syndrom podobný Bohring-Opitzovu syndromu související s KLHL7 | = en |
| uk | KLHL7-повязаний синдром, подібний до Борінга-Опітца | KLHL7-асоційований BOS-подібний синдром |
| tr | KLHL7-related Bohring-Opitz-like syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617055 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0035823 | E | validated | |
| UMLS | C5680210 | 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 (3):
- 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:603699Recessive KLHL7-related disorder
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL7 | Disease-causing germline mutation(s) in | Assessed | HGNC:15646 | ENSG00000122550 | 611119 | 7p15.3 | kelch like family member 7 | 29074562[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 29074562[PMID]_31953236[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29074562[PMID]_31953236[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/603689
- This record as JSON: /data/d/603689.json