MCID: SHP003
MIFTS: 26

Shapiro Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Shapiro Syndrome

MalaCards integrated aliases for Shapiro Syndrome:

Name: Shapiro Syndrome 52 58 71
Spontaneous Periodic Hypothermia 52 58
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 52
Spontaneous Recurrent Hypothermia Syndrome 52
Spontaneous Periodic Hypothermia Syndrome 52
Episodic Spontaneous Hypothermia 58
Shapiro's Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
spontaneous periodic hypothermia
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Shapiro Syndrome

NIH Rare Diseases : 52 Shapiro syndrome is a rare neurological disease characterized by recurrent episodes of excessive sweating and hypothermia along with agenesis of the corpus callosum . The duration and frequency of the episodes vary from person to person, with some episodes lasting hours to weeks and occurring from hours to years; the reason for the variations in the episodes is not yet known. The cause of the condition is currently unknown; however, suggested possible mechanisms include hypothalamic dysfunction, neurochemical abnormalities, inflammatory processes, and epileptic activity. Treatment aims to address the symptoms present in each individual and may include re-warming with a warm blanket and the use of medications with varying success.

MalaCards based summary : Shapiro Syndrome, also known as spontaneous periodic hypothermia, is related to corpus callosum, agenesis of and corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia. Affiliated tissues include kidney, skin and brain, and related phenotypes are nausea and vomiting and hyperhidrosis

Wikipedia : 74 Shapiro syndrome is an extremely rare disorder consisting of paroxysmal hypothermia (due to hypothalamic... more...

Related Diseases for Shapiro Syndrome

Graphical network of the top 20 diseases related to Shapiro Syndrome:



Diseases related to Shapiro Syndrome

Symptoms & Phenotypes for Shapiro Syndrome

Human phenotypes related to Shapiro Syndrome:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 hyperhidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000975
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
5 hypothermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002045
6 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
7 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
8 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
9 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
10 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
11 reduced consciousness/confusion 58 31 frequent (33%) Frequent (79-30%) HP:0004372
12 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
13 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
14 abnormal pattern of respiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002793
15 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
16 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370

Drugs & Therapeutics for Shapiro Syndrome

Search Clinical Trials , NIH Clinical Center for Shapiro Syndrome

Genetic Tests for Shapiro Syndrome

Anatomical Context for Shapiro Syndrome

MalaCards organs/tissues related to Shapiro Syndrome:

40
Kidney, Skin, Brain

Publications for Shapiro Syndrome

Articles related to Shapiro Syndrome:

(show all 37)
# Title Authors PMID Year
1
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 61 52
24594427 2014
2
Spontaneous periodic hypothermia and hyperhidrosis. 61 52
19027594 2008
3
Mode of death in Shapiro syndrome: a case report. 61
31449626 2019
4
Shapiro syndrome presenting with catatonia and thrombocytopenia. 61
31085884 2019
5
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). 61
30195408 2018
6
Spontaneous periodic hypothermia in Parkinson disease with hypothalamic involvement. 61
29431161 2017
7
Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report. 61
28622125 2017
8
A Chinese case of Shapiro syndrome: responsive to carbamazepine. 61
26684809 2016
9
[A rare case of thermoregulation disorder: Shapiro syndrome]. 61
26853729 2016
10
Spontaneous periodic hypothermia in the postoperative phase of a brain tumor of the third ventricle. 61
25577333 2015
11
Remission of Episodic Sweating Attacks and Comorbid Depression in Shapiro Syndrome: Case Report. 61
28360663 2014
12
The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome. 61
24339619 2013
13
Shapiro syndrome. 61
24640213 2013
14
Insights into thermoregulation: a clinico-radiological description of Shapiro syndrome. 61
23578790 2013
15
Cyclic bicytopenia in a patient with shapiro syndrome. 61
24187634 2013
16
Hypothermia and corpus callosum agenesis in Shapiro syndrome: too cold, even for a Viking. 61
22927684 2012
17
Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant. 61
21927958 2012
18
Spontaneous periodic hypothermia and hyperhidrosis: its relation with spontaneous endogenous hypermelatoninemia. 61
22142240 2012
19
Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder. 61
21166673 2011
20
Episodic hyperhydrosis with corpus callosum agenesis: a rare case of Shapiro syndrome. 61
21339684 2011
21
Spontaneous endogenous hypermelatoninemia: a new disease? 61
21041995 2010
22
[Spontaneous periodic hypothermia: a rare cause of hypothermia in the emergency department]. 61
19944556 2009
23
Shapiro syndrome with hypothalamic hypothyroidism. 61
18641886 2008
24
Shapiro syndrome. 61
18203725 2008
25
[Spontaneous hypothermia: a series of ten cases, place of Shapiro's syndrome]. 61
15990200 2005
26
Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome). 61
16009897 2005
27
Perioperative temperature changes in a patient with Shapiro syndrome. 61
11465571 2001
28
[Spontaneous periodic hypothermia. 2 cases]. 61
9365492 1997
29
Agenesis of the corpus callosum associated with paroxysmal hypothermia: Shapiro's syndrome. 61
9038041 1997
30
Spontaneous periodic hypothermia. 61
7565067 1995
31
Paroxysmal hypertension and spontaneous periodic hypothermia. 61
1337813 1992
32
[Shapiro's syndrome: description of a case and review of the literature]. 61
2687985 1989
33
Altered norepinephrine metabolism in Shapiro's syndrome. 61
2910261 1989
34
Spontaneous periodic hypothermia. 61
6537857 1984
35
Spontaneous periodic hypothermia with lipoma of the corpus callosum. 61
7334403 1981
36
Spontaneous periodic hypothermia: diencephalic epilepsy. 61
4733249 1973
37
Spontaneous periodic hypothermia. 61
13888227 1961

Variations for Shapiro Syndrome

Expression for Shapiro Syndrome

Search GEO for disease gene expression data for Shapiro Syndrome.

Pathways for Shapiro Syndrome

GO Terms for Shapiro Syndrome

Sources for Shapiro Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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