KLHL7-related Crisponi/cold-induced sweating-like syndrome
Synonyms: KLHL7-related Crisponi-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare genetic, multiple congenital anomalies syndrome characterized by several of the typical clinical features of Crisponi Syndrome/cold-induced sweating syndrome such as hyperthermia in the first months of life, dysmorphism, feeding and respiratory difficulties, contraction of oropharyngeal muscles, joint contractures with camptodactyly and early onset retinitis pigmentosa, but lacking cold-induced sweating. In contrast to Crisponi and cold-induced sweating syndromes, intellectual disability is reported.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KLHL7-related Crisponi/cold-induced sweating-like syndrome | KLHL7-related Crisponi-like syndrome |
| fr | Syndrome de Crisponi/de la transpiration induite par le froid-like associé à KLHL7 | Syndrome de Crisponi-like associé à KLHL7 |
| de | KLHL7-assoziiertes Crisponi/kälteinduziertes Schwitzen-ähnliches Syndrom | Crisponi-ähnliches Syndrom, KLHL7-assoziiertes |
| es | Sindrome tipo Crisponi/sudoración inducida por frío asociado al gen KLHL7 | Síndrome de Crisponi/sudoración inducida por frío-like asociado a KLHL7 · Síndrome tipo Crisponi asociado a KLHL7 |
| it | Sindrome simil-Crisponi/sudorazione indotta dal freddo correlata a KLHL7 | Sindrome simil-Crisponi correlata a KLHL7 |
| nl | KLHL7-gerelateerd Crisponi/koudegeïnduceerd zweten-achtig syndroom | KLHL7-gerelateerd Crisponi-achtig syndroom |
| pt | Síndrome Crisponi/sudação-like induzida pelo frio KLHL7-relacionado | Síndrome Crisponi-like KLHL7-relacionado |
| pl | Zależny od KLHL7 zespół Crisponi / pocenia wywołanego zimnem | Związany z KLHL7 zespół podobny do Bohringa-Opitza i Crisponi / pocenia wywołanego zimnem |
| cs | Syndrom podobný pocení vyvolaný chladem související s KLHL7 | = en |
| uk | KLHL7-повязаний синдром, подібний до Криспоні/холодоіндукованого потовиділення | KLHL7-асоційований синдром, подібний до синдрому Криспоні |
| tr | KLHL7-related cold-induced sweating-like syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0035824 | E | validated | |
| MONDO | 35824 | E | validated | |
| UMLS | C5680211 | 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:401993Cold-induced sweating syndrome-hyperthermia spectrum
rare genetic diseases; 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.
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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/603694
- This record as JSON: /data/d/603694.json