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The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.
de sanctis-cacchione syndrome - rare genetic skin disorder with neurological problems
Definition for De Sanctis-Cacchione Syndrome
http://health.yahoo.com/ency/healthwise/nord1039
some common symptoms
blister(s) or bump(s) on skin
delayed development
hearing loss
rash
some related diagnoses
1 - 7 of
13
diagnoses
drugs and toxins
multiple sclerosis
common variable immunodeficiency
meningitis
intracranial arteriovenous malformations
fetal alcohol syndrome
viral meningitis
more
do i have 'De Sanctis-Cacchione Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'de sanctis-cacchione syndrome'
1 - 3 of
3
diagnostic tests
Molecular Genetic Studies
De Sanctis-Cacchione Syndrome and Molecular Genetic Studies
EEG - Electroencephalogram
De Sanctis-Cacchione Syndrome and EEG - Electroencephalogram
Comprehensive eye exam
De Sanctis-Cacchione Syndrome and Comprehensive eye exam
therapeutic procedures for 'De Sanctis-Cacchione Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for De Sanctis-Cacchione Syndrome:
therapeutic procedure search results for 'de sanctis-cacchione syndrome'
rankings are computer generated. please consult your health care provider.
medications search results for 'de sanctis-cacchione syndrome'
1 - 5 of
13
medications
rankings are computer generated. please consult your health care provider.
Phenytoin
De Sanctis-Cacchione Syndrome and Phenytoin
Valproic acid
De Sanctis-Cacchione Syndrome and Valproic acid
Phenobarbital
De Sanctis-Cacchione Syndrome and Phenobarbital
Carbamazepine
De Sanctis-Cacchione Syndrome and Carbamazepine
Gabapentin
De Sanctis-Cacchione Syndrome and Gabapentin
Levetiracetam
De Sanctis-Cacchione Syndrome and Levetiracetam
Lamotrigine
De Sanctis-Cacchione Syndrome and Lamotrigine
Oxcarbazepine
De Sanctis-Cacchione Syndrome and Oxcarbazepine
Tiagabine
De Sanctis-Cacchione Syndrome and Tiagabine
Topiramate
De Sanctis-Cacchione Syndrome and Topiramate
Zonisamide
De Sanctis-Cacchione Syndrome and Zonisamide
Felbamate
De Sanctis-Cacchione Syndrome and Felbamate
Pregabalin
De Sanctis-Cacchione Syndrome and Pregabalin
for more please login, login is free (click to login)
web search results for de sanctis-cacchione syndrome
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Results
1 - 50
- De Sanctis-Cacchione Syndrome
Orphanet: De Sanctis Cacchione syndrome
De Sanctis-Cacchione syndrome is defined by the triad xeroderma pigmentosum (XP) ... De Sanctis-Cacchione syndrome is inherited as autosomal recessive trait and can ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1569
www.orpha.net
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summary
Xeroderma pigmentosum - Wikipedia, the free encyclopedia
Xeroderma pigmentosum group D or De Sanctis-Cacchione syndrome. De Sanctis-Cacchione syndrome can be considered a subtype of XPD. Type E, V, XPE. 29881 ...
http://en.wikipedia.org/wiki/Xeroderma_pigmentosum
en.wikipedia.org
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summary
ERCC6 - excision repair cross-complementing rodent repair deficiency ...
More than 20 ERCC6 mutations that cause Cockayne syndrome have been identified. ... associated with an ERCC6 mutation is de Sanctis-Cacchione syndrome, which ...
http://ghr.nlm.nih.gov/gene=ercc6
ghr.nlm.nih.gov
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summary
MIM Gene map
Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletalsyndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l278800
www.ncbi.nlm.nih.gov
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summary
ERCC6 - OMIM - Genetic disorder catalog - Genetics Home Reference
OMIM: de Sanctis-Cacchione syndrome. OMIM: ERCC6. OMIM: UV-Sensitive Syndrome ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=ercc6/show/OMIM
ghr.nlm.nih.gov
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summary
MIM Gene map
Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletalsyndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l610999
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1033
www.ncbi.nlm.nih.gov
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summary
De Santis Cacchione Syndrome - Yahoo! Health
... possible that the main title of the report De Santis Cacchione Syndrome is not the name you expected. Please check the ... De Sanctis-Cacchione syndrome is an ...
http://health.yahoo.com/children-genetic/de-santis-cacchione...
health.yahoo.com
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1048
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1049
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1055
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1056
www.ncbi.nlm.nih.gov
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summary
www.nextbio.com/b/sitemap/sitemap.nb?q=disease/a-z//d/D_164-245.nb
De Sanctis-Cacchione syndrome. De Sanctis-Cacchione syndrome (search) DISEASE ... Deafmutism-retinal degeneration syndrome (finding) ...
http://www.nextbio.com/b/sitemap/sitemap.nb?q=disease/a-z//d/D_164-245.nb
www.nextbio.com
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summary
Differential features of sister-chromatid exchange responses to ...
Sister-chromatid exchange (SCE) induced by ultraviolet (UV) irradiation and ... from a patient with the De Sanctis-Cacchione syndrome were the most sensitive to ...
http://www.ncbi.nlm.nih.gov/pubmed/6865988?ordinalpos=69&ito...
www.ncbi.nlm.nih.gov
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summary
278800
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=278800
www.ncbi.nlm.nih.gov
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Avril 2007 ...
... sindrome de barth 159 0.21% kawasaki 151 0.20% capillary leak syndrome 149 0.20 ... de still 34 0.05% familial hypocalciuric hypercalcemia 34 0.05% fg syndrome 34 ...
http://orphanet.orpha.net/stat/orphanet/search_200704.html
orphanet.orpha.net
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summary
List of diseases (D) - Wikipedia, the free encyclopedia
Dandy Walker syndrome recessive form ... De Barsy syndrome. De Hauwere Leroy Adriaenssens syndrome. De Sanctis-Cacchione syndrome ...
http://en.wikipedia.org/wiki/List_of_diseases_(D)
en.wikipedia.org
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summary
OMIM Update List for June, 2000
605089 NUCLEAR LOCALIZATION SIGNAL DELETED IN VELOCARDIOFACIAL SYNDROME; ... 278800 DE SANCTIS-CACCHIONE SYNDROME. 309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2000
www.ncbi.nlm.nih.gov
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summary
www.nextbio.com/b/home/generalSearch.nb?q=
De
+
Sanctis
-
Cacchione
+
syndrome
http://www.nextbio.com/b/home/generalSearch.nb?q=De+Sanctis-Cacchione+syndrome
www.nextbio.com
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summary
Orphanet: Elenco delle malattie
Il portale delle malattie rare e dei farmaci orfani ... De Sanctis-Cacchione, sindrome di. Desbuquois, sindrome di. DESC syndrome ...
http://www.orpha.net/consor/cgi-bin/Disease_Search_List.php?lng=IT&TAG=D
www.orpha.net
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summary
OMIM Update List for June, 2005
Clinical Synopsis for 130020 EHLERS-DANLOS SYNDROME, TYPE III ... 278800 DE SANCTIS-CACCHIONE SYNDROME. 300400 SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?6.2005
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletalsyndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?d5628
www.ncbi.nlm.nih.gov
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summary
MIM Gene map
Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletalsyndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l138275
www.ncbi.nlm.nih.gov
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summary
ERCC6 - NextBio
ERCC6: The ERCC6 protein is a DNA-binding protein important in ... De Sanctis-Cacchione synd... Adrenosterone. Frontal medial cortex (FM... Cockayne syndrome ...
http://www.nextbio.com/b/home/generalSearch.nb?q=ERCC6
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Janvier ...
... sindrome de sebastian 75 0.15% polidactilia 73 0.14% brugada syndrome 72 0.14 ... syndrome 20 0.04% liposarkom 20 0.04% maladie de fabry 20 0.04% micropenis 20 ...
http://www.orpha.net/stat/orphanet/search_200701.html
www.orpha.net
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1018
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1029
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1031
www.ncbi.nlm.nih.gov
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summary
www.nextbio.com/b/home/home.nb?q=
De
+
Sanctis
-
Cacchione
+
syndrome
http://www.nextbio.com/b/home/home.nb?q=De+Sanctis-Cacchione+syndrome
www.nextbio.com
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summary
Statistique d'Usage du Serveur Orphanet orphanet.orpha.net - Juin 2007 ...
... dysostosis 27 0.02% tipos de sindrome 26 0.02% alpers syndrome 26 ... 0.01% sindrome de rabson mendenhall 7 0.01% sindrome de sanctis cacchione 7 0.01 ...
http://www.orpha.net/stat/orphanet/search_200706.html
www.orpha.net
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1051
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1057
www.ncbi.nlm.nih.gov
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summary
OMIM Update List for February, 1996
601088 CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKE ... 278800 XERODERMIC IDIOCY OF DE SANCTIS AND CACCHIONE ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?2.1996
www.ncbi.nlm.nih.gov
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summary
AceView: Gene:ERCC6andPGBD3, a comprehensive annotation of human, mouse ...
AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... csb; De Sanctis-Cacchione syndrome; ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=ERCC6
www.ncbi.nlm.nih.gov
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summary
MIM Morbid map
The OMIM Morbid Map presents the cytogenetic map location of ... De Sanctis-Cacchione syndrome, 278800 (3) ERCC6, CKN2, COFS1, CSB, ARMD5. 609413. 10q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmorbid.cgi?start=1042
www.ncbi.nlm.nih.gov
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summary
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