COLD-INDUCED SWEATING SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCLE CONTRACTIONS, TETANOFORM, WITH CHARACTERISTIC FACE, CAMPTODACTYLY, HYPERTHERMIA, AND SUDDEN DEATH
CRISPONI SYNDROME
SOHAR-CRISPONI SYNDROME
CISS1
Number of Symptoms 46
OrphanetNr:
OMIM Id: 272430
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:0000278) Retrognathia 100 / 7739
2
(HPO:0000218) High palate 356 / 7739
3
(HPO:0000293) Full cheeks 85 / 7739
4
(HPO:0000343) Long philtrum 262 / 7739
5
(HPO:0005280) Depressed nasal bridge 381 / 7739
6
(HPO:0100729) Large face 19 / 7739
7
(HPO:0000347) Micrognathia 426 / 7739
8
(HPO:0010628) Facial palsy 146 / 7739
9
(HPO:0000160) Narrow mouth 188 / 7739
10
(HPO:0000470) Short neck 345 / 7739
11
(HPO:0000463) Anteverted nares 305 / 7739
12
(HPO:0000445) Wide nose 190 / 7739
13
(HPO:0000369) Low-set ears 372 / 7739
14
(HPO:0001327) Photomyoclonic seizures 125 / 7739
15
(HPO:0002179) Opisthotonus 35 / 7739
16
(HPO:0001250) Seizures 1245 / 7739
17
(HPO:0001249) Intellectual disability 1089 / 7739
18
(HPO:0002650) Scoliosis 705 / 7739
19
(HPO:0002987) Elbow flexion contracture 64 / 7739
20
(HPO:0004097) Deviation of finger 13 / 7739
21
(HPO:0009465) Ulnar deviation of finger 48 / 7739
22
(HPO:0002808) Kyphosis 289 / 7739
23
(HPO:0001182) Tapered finger 93 / 7739
24
(HPO:0001181) Adducted thumb 31 / 7739
25
(HPO:0012385) Camptodactyly 113 / 7739
26
(HPO:0001762) Talipes equinovarus 309 / 7739
27
(HPO:0011968) Feeding difficulties 240 / 7739
28
(HPO:0001954) Episodic fever 27 / 7739
29
(HPO:0001611) Nasal speech 48 / 7739
30
(HPO:0002094) Dyspnea 132 / 7739
31
(OMIM) Neck muscle hypertonia 1 / 7739
32
(OMIM) Dental caries, severe 5 / 7739
33
(OMIM) Poor sweating in response to heat 1 / 7739
34
(OMIM) Chronic keratitis 1 / 7739
35
(OMIM) Apneic spells 3 / 7739
36
(OMIM) Facial trismus 1 / 7739
37
(OMIM) Inability to fully close eyes during sleep 1 / 7739
38
(OMIM) Subcortical white matter abnormalities seen on MRI 1 / 7739
39
(OMIM) Variable fever 1 / 7739
40
(OMIM) Profuse sweating of the upper body induced by cold exposure 1 / 7739
41
(OMIM) Tetanus-like muscle contractions 1 / 7739
42
(OMIM) Severe contractions of the facial muscles 1 / 7739
43
(OMIM) Decreased pain sensitivity 2 / 7739
44
(OMIM) Poor growth in infancy 2 / 7739
45
(OMIM) Generalized muscle contractions, episodic 1 / 7739
46
(OMIM) Abundant salivation 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 Sohar et al. (1978) observed 2 Israeli sisters who, since childhood, sweated profusely from the back and chest when exposed to temperatures of 7 to 18 degrees C. They also showed high palate, inability to extend the elbows ...
Molecular genetics OMIM By DNA sequencing of 25 genes within the candidate region that they identified for cold-induced sweating syndrome, Knappskog et al. (2003) identified potentially deleterious CRLF1 sequence variants (604237.0001-604237.0003) in both the Israeli and Norwegian families with the disorder. ...