Spontaneous periodic hypothermia

General Information (adopted from Orphanet):

Synonyms, Signs: Episodic spontaneous hypothermia
Shapiro syndrome
Number of Symptoms 16
OrphanetNr: 29822
OMIM Id:
ICD-10: G90.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 50 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
2
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
3
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
4
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
5
 (HPO:0002360) Sleep disturbance Frequent [Orphanet] 113 / 7739
6
 (HPO:0004372) Reduced consciousness/confusion Frequent [Orphanet] 73 / 7739
7
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
8
 (HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
9
 (HPO:0002014) Diarrhea Occasional [Orphanet] 225 / 7739
10
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
11
 (HPO:0000988) Skin rash Occasional [Orphanet] 98 / 7739
12
 (HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
13
 (HPO:0002045) Hypothermia Very frequent [Orphanet] 27 / 7739
14
 (HPO:0002793) Abnormal pattern of respiration Occasional [Orphanet] 26 / 7739
15
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
16
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: