MCID: SHP003
MIFTS: 24

Shapiro Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Shapiro Syndrome

MalaCards integrated aliases for Shapiro Syndrome:

Name: Shapiro Syndrome 53 59 72
Spontaneous Periodic Hypothermia 53 59
Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 53
Spontaneous Recurrent Hypothermia Syndrome 53
Spontaneous Periodic Hypothermia Syndrome 53
Episodic Spontaneous Hypothermia 59
Shapiro's Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
spontaneous periodic hypothermia
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G90.8
UMLS via Orphanet 73 C2931542
Orphanet 59 ORPHA29822
UMLS 72 C2931542

Summaries for Shapiro Syndrome

NIH Rare Diseases : 53 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 skin and brain, and related phenotypes are hyperhidrosis and ataxia

Wikipedia : 75 Shapiro syndrome is an extremely rare disorder consisting of paroxysmal hypothermia (due to hypothalamic... more...

Related Diseases for Shapiro Syndrome

Diseases related to Shapiro Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 corpus callosum, agenesis of 10.3
2 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
3 thrombocytopenia 10.2
4 acute kidney failure 10.1
5 kidney disease 10.1
6 migraine with or without aura 1 10.1
7 thyrotropin-releasing hormone deficiency 10.0
8 deficiency anemia 10.0
9 iron deficiency anemia 10.0
10 hypothyroidism 10.0
11 iron metabolism disease 10.0
12 colpocephaly 10.0
13 hypotonia 10.0
14 hyperinsulinism 9.9
15 hypoglycemia 9.9
16 lipomatosis, multiple 9.9
17 parkinson disease, late-onset 9.9
18 pleomorphic lipoma 9.9
19 epilepsy 9.9
20 corpus callosum lipoma 9.9

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
4 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
5 hypothermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002045
6 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
10 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
11 reduced consciousness/confusion 59 32 frequent (33%) Frequent (79-30%) HP:0004372
12 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
13 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
14 abnormal pattern of respiration 59 32 occasional (7.5%) Occasional (29-5%) HP:0002793
15 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
16 aplasia/hypoplasia of the corpus callosum 59 32 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:

41
Skin, Brain

Publications for Shapiro Syndrome

Articles related to Shapiro Syndrome:

(show all 36)
# Title Authors PMID Year
1
Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome. 38 6
24594427 2014
2
Spontaneous periodic hypothermia and hyperhidrosis. 38 6
19027594 2008
3
Shapiro syndrome presenting with catatonia and thrombocytopenia. 38
31085884 2019
4
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome). 38
30195408 2018
5
Spontaneous periodic hypothermia in Parkinson disease with hypothalamic involvement. 38
29431161 2017
6
Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report. 38
28622125 2017
7
A Chinese case of Shapiro syndrome: responsive to carbamazepine. 38
26684809 2016
8
[A rare case of thermoregulation disorder: Shapiro syndrome]. 38
26853729 2016
9
Spontaneous periodic hypothermia in the postoperative phase of a brain tumor of the third ventricle. 38
25577333 2015
10
Remission of Episodic Sweating Attacks and Comorbid Depression in Shapiro Syndrome: Case Report. 38
28360663 2014
11
The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro's or/and reverse Shapiro's syndrome. 38
24339619 2013
12
Insights into thermoregulation: a clinico-radiological description of Shapiro syndrome. 38
23578790 2013
13
Shapiro syndrome. 38
24640213 2013
14
Cyclic bicytopenia in a patient with shapiro syndrome. 38
24187634 2013
15
Hypothermia and corpus callosum agenesis in Shapiro syndrome: too cold, even for a Viking. 38
22927684 2012
16
Recurrent hypothermia with hyperhidrosis in two siblings: familial Shapiro syndrome variant. 38
21927958 2012
17
Spontaneous periodic hypothermia and hyperhidrosis: its relation with spontaneous endogenous hypermelatoninemia. 38
22142240 2012
18
Spontaneous periodic hypothermia and hyperhidrosis: a possibly novel cerebral neurotransmitter disorder. 38
21166673 2011
19
Episodic hyperhydrosis with corpus callosum agenesis: a rare case of Shapiro syndrome. 38
21339684 2011
20
Spontaneous endogenous hypermelatoninemia: a new disease? 38
21041995 2010
21
[Spontaneous periodic hypothermia: a rare cause of hypothermia in the emergency department]. 38
19944556 2009
22
Shapiro syndrome with hypothalamic hypothyroidism. 38
18641886 2008
23
Shapiro syndrome. 38
18203725 2008
24
[Spontaneous hypothermia: a series of ten cases, place of Shapiro's syndrome]. 38
15990200 2005
25
Subtotal corpus callosum agenesis with recurrent hyperhidrosis-hypothermia (Shapiro syndrome). 38
16009897 2005
26
Perioperative temperature changes in a patient with Shapiro syndrome. 38
11465571 2001
27
[Spontaneous periodic hypothermia. 2 cases]. 38
9365492 1997
28
Agenesis of the corpus callosum associated with paroxysmal hypothermia: Shapiro's syndrome. 38
9038041 1997
29
Spontaneous periodic hypothermia. 38
7565067 1995
30
Paroxysmal hypertension and spontaneous periodic hypothermia. 38
1337813 1992
31
[Shapiro's syndrome: description of a case and review of the literature]. 38
2687985 1989
32
Altered norepinephrine metabolism in Shapiro's syndrome. 38
2910261 1989
33
Spontaneous periodic hypothermia. 38
6537857 1984
34
Spontaneous periodic hypothermia with lipoma of the corpus callosum. 38
7334403 1981
35
Spontaneous periodic hypothermia: diencephalic epilepsy. 38
4733249 1973
36
Spontaneous periodic hypothermia. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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