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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCold-induced sweating syndrome - hyperthermia spectrum

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

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

Supplemental Content

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    Clinical resources

    Reviews

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