COLD-INDUCED SWEATING SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: CISS2
Number of Symptoms 20
OrphanetNr:
OMIM Id: 610313
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008872) Feeding difficulties in infancy 153 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0007141) Sensorimotor neuropathy 27 / 7739
4
(HPO:0009466) Radial deviation of finger 101 / 7739
5
(HPO:0004691) 2-3 toe syndactyly 50 / 7739
6
(HPO:0001760) Abnormality of the foot 96 / 7739
7
(HPO:0002967) Cubitus valgus 49 / 7739
8
(HPO:0001377) Limited elbow extension 38 / 7739
9
(HPO:0002938) Lumbar hyperlordosis 73 / 7739
10
(HPO:0002944) Thoracolumbar scoliosis 13 / 7739
11
(HPO:0000975) Hyperhidrosis 64 / 7739
12
(HPO:0000218) High palate 356 / 7739
13
(HPO:0000411) Protruding ear 140 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(HPO:0030084) Clinodactyly 90 / 7739
16
(MedDRA:10058668) Clinodactyly 91 / 7739
17
(OMIM) Facial weakness, mild 6 / 7739
18
(OMIM) Paradoxical sweating response (sweating induced by cold exposure, inability to sweat in hot weather) 1 / 7739
19
(OMIM) Sensorimotor peripheral neuropathy, mild 1 / 7739
20
(OMIM) Syndactyly, bilateral (2nd and 3rd toes) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of ...
Clinical Description OMIM Rousseau et al. (2006) reported an Australian man, first examined when he was 46 years of age, who stated that he had feeding difficulties as an infant and suffered all his life from profuse sweating on the face, ...
Molecular genetics OMIM In a 74-year-old Australian man with cold-induced sweating syndrome, Rousseau et al. (2006) identified compound heterozygosity for a truncating (607672.0001) and a missense mutation (607672.0002) in the CLCF1 gene. The mutations were not found in 140 control chromosomes, ...