ORPHA:603684
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Synonyms: PERCHING syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic, multiple congenital anomalies syndrome characterized by the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome.
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Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome | PERCHING syndrome |
| fr | Syndrome de chevauchement des syndromes de Bohring-Opitz-like et de Crisponi/transpiration induite par le froid-like | Syndrome de PERCHING |
| de | KLHL7-assoziiertes Bohring-Opitz und Crisponi/CISS-ähnliches Overlap-Syndrom | PERCHING-Syndrom |
| es | Síndrome de solapamiento del síndrome tipo Crisponi/síndrome de sudoración por frío y del síndrome tipo Bohring-Opitz asociado a KLHL7 | Síndrome PERCHING · Síndrome de solapamiento del sindrome de Crisponi/síndrome de sudoración por frío-like y del síndrome de Bohring-Opitz-like asociado a KLHL7 |
| it | Sindrome da sovrapposizione della sindrome simil-Bohring-Opitz correlata a KLHL7 e della sindrome simil-Crisponi/sudorazione indotta dal freddo | Sindrome PERCHING |
| nl | KLHL7-gerelateerd Bohring-Opitz-achtig en Crisponi/koudegeïnduceerd zweten-achtig overlapsyndroom | PERCHING-syndroom |
| pt | Síndrome de sobreposição Bohring-Opitz-like e Crisponi/sudação-like induzida pelo frio KLHL7-relacionada | Síndrome PERCHING |
| pl | Nakładanie zależnego od KLHL7 zespołu podobnego do Bohring-Opitz/pocenia wywołanego zimnem | = en |
| cs | Překryvný syndrom podobný Bohringovu-Opitzovu syndromu a syndromu pocení vyvolaného chladem související s KLHL7 | = en |
| uk | KLHL7-повязана група синдромів типу Борінга-Опітца та Криспоні/Overlap-синдром холодоіндукованого потовиділення | Синдром PERCHING |
| tr | KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617055 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014890 | E | validated | |
| UMLS | C4310742 | 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:401993Cold-induced sweating syndrome-hyperthermia spectrum
rare genetic diseases; rare neurological diseases - 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:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:603699Recessive KLHL7-related disorder
rare genetic diseases; rare neurological diseases
No children.
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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] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 30300710[PMID]_30142437[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30300710[PMID]_30142437[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/603684
- This record as JSON: /data/d/603684.json