MCID: CLD017
MIFTS: 12

Cold-Induced Sweating Syndrome 3

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome 3

MalaCards integrated aliases for Cold-Induced Sweating Syndrome 3:

Name: Cold-Induced Sweating Syndrome 3 12 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080331

Summaries for Cold-Induced Sweating Syndrome 3

Disease Ontology : 12 A cold-induced sweating syndrome that has material basis in homozygous mutation in the KLHL7 gene on chromosome 7p15.

MalaCards based summary : Cold-Induced Sweating Syndrome 3 is related to perching syndrome. An important gene associated with Cold-Induced Sweating Syndrome 3 is KLHL7 (Kelch Like Family Member 7).

Related Diseases for Cold-Induced Sweating Syndrome 3

Diseases in the Cold-Induced Sweating Syndrome family:

Cold-Induced Sweating Syndrome 3

Diseases related to Cold-Induced Sweating Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perching syndrome 11.7

Symptoms & Phenotypes for Cold-Induced Sweating Syndrome 3

Drugs & Therapeutics for Cold-Induced Sweating Syndrome 3

Search Clinical Trials , NIH Clinical Center for Cold-Induced Sweating Syndrome 3

Genetic Tests for Cold-Induced Sweating Syndrome 3

Anatomical Context for Cold-Induced Sweating Syndrome 3

Publications for Cold-Induced Sweating Syndrome 3

Articles related to Cold-Induced Sweating Syndrome 3:

# Title Authors PMID Year
1
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. 6
30300710 2019
2
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. 6
30142437 2019
3
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. 6
29074562 2017
4
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 6
27392078 2016
5
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019

Variations for Cold-Induced Sweating Syndrome 3

ClinVar genetic disease variations for Cold-Induced Sweating Syndrome 3:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KLHL7 NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) Deletion Pathogenic 226129 rs879255557 7:23205399-23205399 7:23165780-23165780
2 KLHL7 NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) SNV Pathogenic 226127 rs879255556 7:23207538-23207538 7:23167919-23167919
3 KLHL7 NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) SNV Pathogenic 226130 rs879255558 7:23205495-23205495 7:23165876-23165876
4 KLHL7 NM_001031710.3(KLHL7):c.618+1G>A SNV Pathogenic 487514 rs1554289078 7:23180564-23180564 7:23140945-23140945
5 KLHL7 NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) SNV Pathogenic 804273 rs746612410 7:23205431-23205431 7:23165812-23165812
6 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Pathogenic 279824 rs77078070 7:23205356-23205356 7:23165737-23165737
7 KLHL7 NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) SNV Pathogenic 816804 rs943339467 7:23180510-23180510 7:23140891-23140891
8 KLHL7 NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) SNV Pathogenic/Likely pathogenic 226128 rs780705654 7:23207535-23207535 7:23167916-23167916
9 KLHL7 NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) SNV Likely pathogenic 279824 rs77078070 7:23205356-23205356 7:23165737-23165737
10 KLHL7 NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del) Microsatellite Conflicting interpretations of pathogenicity 430626 rs1554286093 7:23163452-23163454 7:23123833-23123835
11 KLHL7 NM_001031710.3(KLHL7):c.121-5814A>G SNV Benign 802301 rs17147682 7:23157582-23157582 7:23117963-23117963
12 KLHL7 NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) SNV Benign 359798 rs15775 7:23164701-23164701 7:23125082-23125082
13 KLHL7 NM_001031710.3(KLHL7):c.936+3731_936+3735del Deletion Benign 802302 rs141774430 7:23195556-23195560 7:23155937-23155941

Expression for Cold-Induced Sweating Syndrome 3

Search GEO for disease gene expression data for Cold-Induced Sweating Syndrome 3.

Pathways for Cold-Induced Sweating Syndrome 3

GO Terms for Cold-Induced Sweating Syndrome 3

Sources for Cold-Induced Sweating Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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