De Sanctis-Cacchione Syndrome (DSC)

MalaCards integrated aliases for De Sanctis-Cacchione Syndrome:

Xerodermic Idiocy 52 73 Xerodermic Idiocy of De Sanctis and Cacchione 73

Dsc 73

Characteristics:

Classifications:

Diseases related to De Sanctis-Cacchione Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 97)

#	Related Disease	Score	Top Affiliating Genes
1	cockayne syndrome	29.5	PGBD3 ERCC6
2	xeroderma pigmentosum, variant type	12.1
3	xeroderma pigmentosum, complementation group a	11.7
4	microcephaly	10.7
5	ataxia and polyneuropathy, adult-onset	10.6
6	branchiootic syndrome 1	10.5
7	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
8	hypogonadism	10.5
9	peripheral nervous system disease	10.5
10	neuropathy	10.5
11	glioma	10.5
12	glial tumor	10.5
13	glioblastoma multiforme	10.4
14	candidiasis, familial, 1	10.4
15	alacrima, achalasia, and mental retardation syndrome	10.4
16	chorea, childhood-onset, with psychomotor retardation	10.4
17	autosomal recessive disease	10.4
18	sensorineural hearing loss	10.4
19	choreatic disease	10.4
20	basal cell carcinoma	10.4
21	eyelid carcinoma	10.4
22	dwarfism	10.4
23	trichothiodystrophy	10.4
24	dysphagia	10.4
25	moyamoya disease 1	10.3
26	helix syndrome	10.2
27	astrocytoma	10.2
28	47,xyy	10.2
29	visual epilepsy	10.1
30	rectum cancer	10.1
31	focal epilepsy	10.1
32	temporal lobe epilepsy	10.1
33	hypoglycemia	10.1
34	seizure disorder	10.1
35	alzheimer disease	9.9
36	atherosclerosis susceptibility	9.9
37	burkitt lymphoma	9.9
38	hypercholesterolemia, familial, 1	9.9
39	leukemia, chronic lymphocytic	9.9
40	polykaryocytosis inducer	9.9
41	spondyloepimetaphyseal dysplasia, strudwick type	9.9
42	cystic fibrosis	9.9
43	pancreatic cancer	9.9
44	frontotemporal dementia	9.9
45	chudley-mccullough syndrome	9.9
46	late-onset retinal degeneration	9.9
47	meningioma, radiation-induced	9.9
48	creatinine clearance quantitative trait locus	9.9
49	meningioma, familial	9.9
50	kala-azar 1	9.9

Genetic tests related to De Sanctis-Cacchione Syndrome:

#	Genetic test	Affiliating Genes
1	De Sanctis-Cacchione Syndrome 29	ERCC6

Articles related to De Sanctis-Cacchione Syndrome:

(show top 50) (show all 52)

#	Title	Authors	PMID	Year
1	Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. 6 56	Colella S...Stefanini M	10767341	2000
2	Peripheral neuropathy in xeroderma pigmentosum. 61 56	Kanda T...Tsukagoshi H	2168777	1990
3	XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME. 61 56	REED WB...NICKEL WR	14246158	1965
4	Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 6	Mallery DL...Lehmann AR	9443879	1998
5	Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. 56	Itoh T...Yamaizumi M	8566949	1996
6	Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. 56	Greenhaw GA...Horton WA	1372469	1992
7	Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 56	Kraemer KH...Scotto J	3545087	1987
8	Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 56	Roytta M...Anttinen A	3705928	1986
9	Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 56	Robbins JH...Coon HG	4811796	1974
10	Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. 56	De Weerd-Kastelein EA...Bootsma D	4505415	1972
11	Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect. 56	Reed WB...Melnyk J	5818379	1969
12	[Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study]. 56	YANO K	14813341	1950
13	Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. 61	Uribe-Bojanini E...Cock-Rada AM	28255305	2017
14	Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana. 61	Badoe EV	29430532	2016
15	De Sanctis-Cacchione syndrome: A case report and literature review. 61	Rahbar Z...Naraghi M	28491977	2015
16	Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia. 61	Fekete R	24803908	2014
17	De Sanctis-Cacchione syndrome in a female infant--case report. 61	Caldas AL...Rodrigues MM	24474111	2013
18	De Sanctis-Cacchione syndrome. 61	Mittal H...Godbole T	24177634	2013
19	[De Sanctis-Cacchione syndrome]. 61	Roson E...Cruces M	16476302	2005
20	De sanctis cacchione syndrome. 61	Riyaz N...Riyaz A	20921639	1999
21	[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?]. 61	Hort A...Kurlemann G	8459809	1993
22	De Sanctis Cacchione syndrome. 61	Joseph VJ...Yeshwanth M	8406720	1993
23	Three nonsense mutations responsible for group A xeroderma pigmentosum. 61	Satokata I...Okada Y	1372102	1992
24	De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders. 61	Niederauer HH...Jung EG	1612905	1992
25	[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome]. 61	Konishi T...Takayanagi T	2612104	1989
26	[De Sanctis-Cacchione syndrome. Apropos of 2 cases]. 61	Sanchez-Pedreno Guillen P...Camacho Martinez F	3537579	1986
27	Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. 61	Kato T...Oikawa A	3970583	1985
28	Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines. 61	Tohda H...Oikawa A	6865988	1983
29	De-Sanctis cacchione syndrome. 61	Mishra PC...Singh R	7182366	1982
30	The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. 61	Fukuhara N...Origuchi Y	6280438	1982
31	[De Sanctis-Cacchione syndrome: a report of a case and a review of the literature (author's transl)]. 61	Muramoto O...Ando K	7333057	1981
32	[De Sanctis-Cacchione syndrome--a case report]. 61	Miyazaki M...Yatani R	7265511	1981
33	Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome. 61	Okada N...Kitano Y	7305444	1981
34	De Sanctis-Cacchione syndrome. 61	Harrison PV...Shuster S	453864	1979
35	Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome). 61	Handa J...Akiguchi I	701525	1978
36	[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurologic manifestations) (author's transl)]. 61	Idiaquez J...Alvarez G	694280	1978
37	Replication of chromosomal DNA in cultured abnormal human cells. 61	Yurov YB	149757	1978
38	[De Sanctis-Cacchione syndrome]. 61	Takeshita K	691376	1978
39	Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis. 61	Jung EG	719183	1978
40	[De Sanctis-Cacchione syndrome]. 61	Seiji M...Kato T	612790	1977
41	Enzyme defects in xeroderma pigmentosum. 61	Akiba H...Seiji M	15633972	1976
42	Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures. 61	Stefanini M...Nuzzo F	1250250	1976
43	Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation. 61	Akiba H...Seiji M	1188925	1975
44	Xerodermic idiocy in identical twins. 61	Raju L...Adam BA	4443986	1974
45	The genetic defect in the de Sanctis-Cacchione syndrome. 61	Der Kaloustian VM...Bootsma D	4436596	1974
46	Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism. 61	Friedman A...Haim S	4683062	1973
47	DNA chain elongation and joining in normal human and xeroderma pigmentosum cells after ultraviolet irradiation. 61	Buhl SN...Regan JD	5056962	1972
48	[Case of xerodermic idiocy (Sanctis-Kakione syndrome)]. 61	Sazonova NS...Suvorova KN	4659418	1972
49	[De Sanctis-Cacchione syndrome]. 61	Suvorova KN...Sazonova NS	5507869	1970
50	[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)]. 61	Yamamoto M...Fujino Z	5456594	1970

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	1020.41	Molecular basis known 56 Pathogenic 6 Genetic Tests 29 GeneCards inferred via : Disorders Variants (show sections)	9443879 10767341
2	PGBD3	PiggyBac Transposable Element Derived 3	Protein Coding	8.78	GeneCards inferred via : Variants (show sections)

ClinVar genetic disease variations for De Sanctis-Cacchione Syndrome:

⁶ (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ERCC6	NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)	SNV	Pathogenic	430298	rs376526037	10:50691550-50691550	10:49483504-49483504
2	ERCC6	NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter)	SNV	Pathogenic	557733	rs1554787509	10:50682111-50682111	10:49474065-49474065
3	ERCC6	NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter)	SNV	Pathogenic	553383	rs751448793	10:50682102-50682102	10:49474056-49474056
4	ERCC6	NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter)	SNV	Pathogenic	802570		10:50678561-50678561	10:49470515-49470515
5	ERCC6	NM_000124.4(ERCC6):c.1866_1867CA[3] (p.Ser624fs)	short repeat	Pathogenic	802571		10:50691514-50691515	10:49483468-49483469
6	ERCC6	NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	SNV	Pathogenic	1701	rs121917901	10:50686483-50686483	10:49478437-49478437
7	ERCC6	NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)	SNV	Pathogenic	1703	rs121917902	10:50732119-50732119	10:49524073-49524073
8	ERCC6	NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	SNV	Pathogenic	31578	rs185142838	10:50669519-50669519	10:49461473-49461473
9	ERCC6	NM_000124.4(ERCC6):c.2830-2A>G	SNV	Pathogenic	190163	rs373227647	10:50680518-50680518	10:49472472-49472472
10	ERCC6	NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)	SNV	Pathogenic	190160	rs151242354	10:50690735-50690735	10:49482689-49482689
11	ERCC6	NM_000124.4(ERCC6):c.466C>T (p.Gln156Ter)	SNV	Pathogenic	212733	rs751838040	10:50738843-50738843	10:49530797-49530797
12	ERCC6	NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	SNV	Pathogenic/Likely pathogenic	225905	rs875989810	10:50736472-50736472	10:49528426-49528426
13	ERCC6	NM_000124.4(ERCC6):c.1526+1G>T	SNV	Pathogenic/Likely pathogenic	190147	rs371739894	10:50713929-50713929	10:49505883-49505883
14	ERCC6	NM_000124.4(ERCC6):c.2096dup (p.Leu700fs)	duplication	Pathogenic/Likely pathogenic	190159	rs774791374	10:50690805-50690806	10:49482759-49482760
15	ERCC6	NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs)	insertion	Pathogenic/Likely pathogenic	190168	rs786205172	10:50678398-50678399	10:49470352-49470353
16	ERCC6	NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs)	deletion	Pathogenic/Likely pathogenic	190167	rs786205171	10:50678470-50678470	10:49470424-49470424
17	ERCC6	NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs)	duplication	Pathogenic/Likely pathogenic	190166	rs786205170	10:50678593-50678594	10:49470547-49470548
18	ERCC6	NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter)	SNV	Pathogenic/Likely pathogenic	550722	rs1198241866	10:50732467-50732467	10:49524421-49524421
19	ERCC6	NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	SNV	Pathogenic/Likely pathogenic	502165	rs906755254	10:50680507-50680507	10:49472461-49472461
20	ERCC6	NM_000124.4(ERCC6):c.4062+2T>A	SNV	Likely pathogenic	556731	rs1554873950	10:50668417-50668417	10:49460371-49460371
21	ERCC6	NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs)	duplication	Likely pathogenic	551667	rs1386369933	10:50669509-50669510	10:49461463-49461464
22	ERCC6	NM_000124.4(ERCC6):c.3778+1G>C	SNV	Likely pathogenic	555653	rs1554875114	10:50678227-50678227	10:49470181-49470181
23	ERCC6	NM_000124.4(ERCC6):c.2829+1G>A	SNV	Likely pathogenic	553712	rs1554875522	10:50680954-50680954	10:49472908-49472908
24	ERCC6	NM_000124.4(ERCC6):c.2383-1G>A	SNV	Likely pathogenic	558051	rs1554787554	10:50682289-50682289	10:49474243-49474243
25	ERCC6	NM_000124.4(ERCC6):c.422+1G>A	SNV	Likely pathogenic	550687	rs1198472093	10:50740588-50740588	10:49532542-49532542
26	ERCC6	NM_000124.4(ERCC6):c.257_258GC[1] (p.Ala87fs)	short repeat	Likely pathogenic	551983	rs1554794620	10:50740751-50740752	10:49532705-49532706
27	ERCC6	NM_000124.4(ERCC6):c.4063-1G>C	SNV	Likely pathogenic	549960	rs766980240	10:50667281-50667281	10:49459235-49459235
28	ERCC6	NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter)	duplication	Likely pathogenic	554825	rs1554875154	10:50678378-50678379	10:49470332-49470333
29	ERCC6	NM_000124.4(ERCC6):c.2169+1G>A	SNV	Likely pathogenic	554803	rs1441655600	10:50690732-50690732	10:49482686-49482686
30	ERCC6	NM_000124.4(ERCC6):c.2287-2A>G	SNV	Likely pathogenic	551374	rs754978734	10:50684358-50684358	10:49476312-49476312
31	ERCC6	NM_000124.4(ERCC6):c.2286+1G>A	SNV	Likely pathogenic	550657	rs1362935450	10:50686399-50686399	10:49478353-49478353
32	ERCC6	NM_000124.4(ERCC6):c.1398-2A>G	SNV	Likely pathogenic	554946	rs1317145066	10:50714060-50714060	10:49506014-49506014
33	ERCC6	NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter)	SNV	Likely pathogenic	554231	rs762976316	10:50666944-50666944	10:49458898-49458898
34	ERCC6	NM_000124.4(ERCC6):c.3984-2A>G	SNV	Likely pathogenic	554470	rs1554873973	10:50668499-50668499	10:49460453-49460453
35	ERCC6	NM_000124.4(ERCC6):c.3614del (p.Lys1205fs)	deletion	Likely pathogenic	558665	rs1554875155	10:50678392-50678392	10:49470346-49470346
36	ERCC6	NM_000124.4(ERCC6):c.544-2A>G	SNV	Likely pathogenic	553815	rs1554794073	10:50736573-50736573	10:49528527-49528527
37	ERCC6	NM_000124.4(ERCC6):c.207dup (p.Pro70fs)	duplication	Likely pathogenic	556870	rs1554794641	10:50740803-50740804	10:49532757-49532758
38	ERCC6	NM_000124.4(ERCC6):c.3957del (p.Ile1320fs)	deletion	Likely pathogenic	557934	rs1554874073	10:50669424-50669424	10:49461378-49461378
39	ERCC6	NM_000124.4(ERCC6):c.1527-2A>G	SNV	Likely pathogenic	558660	rs768608345	10:50708744-50708744	10:49500698-49500698
40	ERCC6	NM_000124.4(ERCC6):c.3589_3590GA[3] (p.Lys1198fs)	short repeat	Likely pathogenic	558059	rs1287286877	10:50678413-50678414	10:49470367-49470368
41	ERCC6	NM_000124.4(ERCC6):c.3071-1G>A	SNV	Likely pathogenic	551813	rs1554875287	10:50678936-50678936	10:49470890-49470890
42	ERCC6	NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	SNV	Likely pathogenic	1711	rs121917904	10:50690855-50690855	10:49482809-49482809
43	ERCC6	NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter)	SNV	Likely pathogenic	190155	rs767247987	10:50691430-50691430	10:49483384-49483384
44	ERCC6	NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs)	deletion	Likely pathogenic	190171	rs765825423	10:50669428-50669429	10:49461382-49461383
45	ERCC6	NM_000124.4(ERCC6):c.3113_3114del (p.Arg1038fs)	deletion	Likely pathogenic	830316		10:50678892-50678893	10:49470846-49470847
46	ERCC6	NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs)	duplication	Likely pathogenic	550175	rs1254008304	10:50732695-50732696	10:49524649-49524650
47	ERCC6	NM_000124.4(ERCC6):c.422+1G>C	SNV	Likely pathogenic	556340	rs1198472093	10:50740588-50740588	10:49532542-49532542
48	ERCC6	NM_000124.4(ERCC6):c.214del (p.Leu72fs)	deletion	Likely pathogenic	553889	rs1554794640	10:50740797-50740797	10:49532751-49532751
49	ERCC6	NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter)	SNV	Likely pathogenic	551535	rs577021605	10:50740950-50740950	10:49532904-49532904
50	ERCC6	NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	SNV	Likely pathogenic	551532	rs771781694	10:50738783-50738783	10:49530737-49530737