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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hyperhidrosis (D006945)
..Starting node ..Cold-Induced Sweating Syndrome 1 (C564791)
Child Nodes:
Sister Nodes:
..Book Syndrome (C562993)
..Cold-Induced Sweating Syndrome 1 (C564791)
..Granulosis Rubra Nasi (C562483)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hyperhidrosis Palmaris Et Plantaris (C563185)
..Shapiro syndrome (C537594)
..Sweating, Gustatory (D013547)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2471

Name:

Cold-Induced Sweating Syndrome 1

Definition:

Alternative IDs:

OMIM:610313

ParentIDs:

MESH:D000015|MESH:D006945

TreeNumbers:

C16.131.077/C564791 |C17.800.946.350/C564791

Synonyms:

CISS2 |Cold-Induced Sweating Syndrome 2 |Sweating, Cold-Induced

Slim Mappings:

Congenital abnormality|Skin disease

Reference:

MedGen: C564791
MeSH: C564791
OMIM: 610313;

Genes: CLCF1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0001760	Abnormal foot morphology
4	HP:0030084	Clinodactyly
5	HP:0002967	Cubitus valgus
6	HP:0010628	Facial palsy
7	HP:0008872	Feeding difficulties in infancy
8	HP:0000218	High palate
9	HP:0000975	Hyperhidrosis
10	HP:0001377	Limited elbow extension
11	HP:0002938	Lumbar hyperlordosis
12	HP:0000411	Protruding ear
13	HP:0009466	Radial deviation of finger
14	HP:0007141	Sensorimotor neuropathy
15	HP:0002944	Thoracolumbar scoliosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_013246.2(CLCF1):c.676T>C (p.Ter226Arg)	-1	-	Pathogenic	137853935	RCV000020693;	N	MedGen:C1853198,OMIM:610313	11	67132609	67132609	NM_013246.2:c.676T>C	NP_037378.1:p.Ter226Arg	NC_000011.9:g.67132609A>G	-	C1853198 610313 Cold-induced sweating syndrome 2
NM_013246.2(CLCF1):c.590G>T (p.Arg197Leu)	-1	-	Pathogenic	104894203	RCV000003065;	N	MedGen:C1853198,OMIM:610313	11	67132695	67132695	NM_013246.2:c.590G>T	NP_037378.1:p.Arg197Leu	NC_000011.9:g.67132695C>A	OMIM Allelic Variant:607672.0002	C1853198 610313 Cold-induced sweating syndrome 2
NM_013246.2(CLCF1):c.321C>A (p.Tyr107Ter)	-1	-	Pathogenic	104894198	RCV000003064;	N	MedGen:C1853198,OMIM:610313	11	67132964	67132964	NM_013246.2:c.321C>A	NP_037378.1:p.Tyr107Ter	NC_000011.9:g.67132964G>T	OMIM Allelic Variant:607672.0001	C1853198 610313 Cold-induced sweating syndrome 2
NM_013246.2(CLCF1):c.46T>C (p.Cys16Arg)	-1	-	Pathogenic	137853934	RCV000020692;	N	MedGen:C1853198,OMIM:610313	11	67135068	67135068	NM_013246.2:c.46T>C	NP_037378.1:p.Cys16Arg	NC_000011.9:g.67135068A>G	-	C1853198 610313 Cold-induced sweating syndrome 2