Cold-induced sweating syndrome - hyperthermia spectrum

MedGen UID:: 1842440
•Concept ID:: C5681139
•: Disease or Syndrome

Synonyms:	cold-induced sweating syndrome - hyperthermia spectrum; Cold-induced sweating syndrome-hyperthermia spectrum
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018431
Orphanet:	ORPHA401993

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCold-induced sweating syndrome - hyperthermia spectrum

Cold-induced sweating syndrome - hyperthermia spectrum
- Cold-induced sweating syndrome
- KLHL7-related cold-induced sweating-like syndrome

Recent clinical studies

Prognosis

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F
Hum Mutat 2014 Apr;35(4):424-33. Epub 2014 Mar 6 doi: 10.1002/humu.22522. PMID: 24488861

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Clinical prediction guides

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Yilmaz Gulec E, Turgut GT, Gezdirici A, Karaman V, Ozturk FN, Avci S, Kalayci T, Senturk L, Ayaz A, Kayserili H, Uyguner ZO, Altunoğlu U
Clin Genet 2022 Sep;102(3):201-217. Epub 2022 Jul 12 doi: 10.1111/cge.14177. PMID: 35699517

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Cold-induced sweating syndrome - hyperthermia spectrum

Term Hierarchy

Recent clinical studies

Prognosis

Clinical prediction guides

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