DSC
MCID: DSN001
MIFTS: 35

De Sanctis-Cacchione Syndrome (DSC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for De Sanctis-Cacchione Syndrome

MalaCards integrated aliases for De Sanctis-Cacchione Syndrome:

Name: De Sanctis-Cacchione Syndrome 56 52 73 29 13 6 39 71
Xerodermic Idiocy 52 73
Xerodermic Idiocy of De Sanctis and Cacchione 73
Dsc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
de sanctis-cacchione syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for De Sanctis-Cacchione Syndrome

UniProtKB/Swiss-Prot : 73 De Sanctis-Cacchione syndrome: An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.

MalaCards based summary : De Sanctis-Cacchione Syndrome, also known as xerodermic idiocy, is related to cockayne syndrome and xeroderma pigmentosum, variant type. An important gene associated with De Sanctis-Cacchione Syndrome is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include skin, and related phenotypes are intellectual disability and microcephaly

More information from OMIM: 278800

Related Diseases for De Sanctis-Cacchione Syndrome

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

Graphical network of the top 20 diseases related to De Sanctis-Cacchione Syndrome:



Diseases related to De Sanctis-Cacchione Syndrome

Symptoms & Phenotypes for De Sanctis-Cacchione Syndrome

Human phenotypes related to De Sanctis-Cacchione Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 sensorineural hearing impairment 31 HP:0000407
4 photophobia 31 HP:0000613
5 spasticity 31 HP:0001257
6 ataxia 31 HP:0001251
7 cutaneous photosensitivity 31 HP:0000992
8 melanoma 31 HP:0002861
9 areflexia 31 HP:0001284
10 mental deterioration 31 HP:0001268
11 conjunctivitis 31 HP:0000509
12 keratitis 31 HP:0000491
13 hyporeflexia 31 HP:0001265
14 cerebellar atrophy 31 HP:0001272
15 ectropion 31 HP:0000656
16 choreoathetosis 31 HP:0001266
17 severe short stature 31 HP:0003510
18 poikiloderma 31 HP:0001029
19 telangiectasia 31 HP:0001009
20 dermal atrophy 31 HP:0004334
21 entropion 31 HP:0000621
22 olivopontocerebellar atrophy 31 HP:0002542
23 defective dna repair after ultraviolet radiation damage 31 HP:0003079
24 gonadal hypoplasia 31 HP:0008639

Symptoms via clinical synopsis from OMIM:

56
Neuro:
microcephaly
spasticity
mental deterioration
hyporeflexia
choreoathetosis
more
Skin:
poikiloderma
telangiectasia
skin atrophy
keratoacanthomas
skin photosensitivity
more
G U:
gonadal hypoplasia

Radiology:
cerebral and olivopontocerebellar atrophy

Eyes:
photophobia
conjunctivitis
keratitis
ectropion
entropion

Misc:
defective dna repair after ultraviolet radiation damage
may occur in any one of the 7 complementation groups, but most often in those of complementation group d (278730)

Growth:
dwarfism

Clinical features from OMIM:

278800

Drugs & Therapeutics for De Sanctis-Cacchione Syndrome

Search Clinical Trials , NIH Clinical Center for De Sanctis-Cacchione Syndrome

Genetic Tests for De Sanctis-Cacchione Syndrome

Genetic tests related to De Sanctis-Cacchione Syndrome:

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

Anatomical Context for De Sanctis-Cacchione Syndrome

MalaCards organs/tissues related to De Sanctis-Cacchione Syndrome:

40
Skin

Publications for De Sanctis-Cacchione Syndrome

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
10767341 2000
2
Peripheral neuropathy in xeroderma pigmentosum. 61 56
2168777 1990
3
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME. 61 56
14246158 1965
4
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 6
9443879 1998
5
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. 56
8566949 1996
6
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. 56
1372469 1992
7
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 56
3545087 1987
8
Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 56
3705928 1986
9
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 56
4811796 1974
10
Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. 56
4505415 1972
11
Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect. 56
5818379 1969
12
[Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study]. 56
14813341 1950
13
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. 61
28255305 2017
14
Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana. 61
29430532 2016
15
De Sanctis-Cacchione syndrome: A case report and literature review. 61
28491977 2015
16
Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia. 61
24803908 2014
17
De Sanctis-Cacchione syndrome in a female infant--case report. 61
24474111 2013
18
De Sanctis-Cacchione syndrome. 61
24177634 2013
19
[De Sanctis-Cacchione syndrome]. 61
16476302 2005
20
De sanctis cacchione syndrome. 61
20921639 1999
21
[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?]. 61
8459809 1993
22
De Sanctis Cacchione syndrome. 61
8406720 1993
23
Three nonsense mutations responsible for group A xeroderma pigmentosum. 61
1372102 1992
24
De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders. 61
1612905 1992
25
[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome]. 61
2612104 1989
26
[De Sanctis-Cacchione syndrome. Apropos of 2 cases]. 61
3537579 1986
27
Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. 61
3970583 1985
28
Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines. 61
6865988 1983
29
De-Sanctis cacchione syndrome. 61
7182366 1982
30
The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. 61
6280438 1982
31
[De Sanctis-Cacchione syndrome: a report of a case and a review of the literature (author's transl)]. 61
7333057 1981
32
[De Sanctis-Cacchione syndrome--a case report]. 61
7265511 1981
33
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome. 61
7305444 1981
34
De Sanctis-Cacchione syndrome. 61
453864 1979
35
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome). 61
701525 1978
36
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurologic manifestations) (author's transl)]. 61
694280 1978
37
Replication of chromosomal DNA in cultured abnormal human cells. 61
149757 1978
38
[De Sanctis-Cacchione syndrome]. 61
691376 1978
39
Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis. 61
719183 1978
40
[De Sanctis-Cacchione syndrome]. 61
612790 1977
41
Enzyme defects in xeroderma pigmentosum. 61
15633972 1976
42
Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures. 61
1250250 1976
43
Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation. 61
1188925 1975
44
Xerodermic idiocy in identical twins. 61
4443986 1974
45
The genetic defect in the de Sanctis-Cacchione syndrome. 61
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
4683062 1973
47
DNA chain elongation and joining in normal human and xeroderma pigmentosum cells after ultraviolet irradiation. 61
5056962 1972
48
[Case of xerodermic idiocy (Sanctis-Kakione syndrome)]. 61
4659418 1972
49
[De Sanctis-Cacchione syndrome]. 61
5507869 1970
50
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)]. 61
5456594 1970

Variations for De Sanctis-Cacchione Syndrome

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>GSNV 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>TSNV 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>ASNV 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>CSNV Likely pathogenic 555653 rs1554875114 10:50678227-50678227 10:49470181-49470181
23 ERCC6 NM_000124.4(ERCC6):c.2829+1G>ASNV Likely pathogenic 553712 rs1554875522 10:50680954-50680954 10:49472908-49472908
24 ERCC6 NM_000124.4(ERCC6):c.2383-1G>ASNV Likely pathogenic 558051 rs1554787554 10:50682289-50682289 10:49474243-49474243
25 ERCC6 NM_000124.4(ERCC6):c.422+1G>ASNV 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>CSNV 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>ASNV Likely pathogenic 554803 rs1441655600 10:50690732-50690732 10:49482686-49482686
30 ERCC6 NM_000124.4(ERCC6):c.2287-2A>GSNV Likely pathogenic 551374 rs754978734 10:50684358-50684358 10:49476312-49476312
31 ERCC6 NM_000124.4(ERCC6):c.2286+1G>ASNV Likely pathogenic 550657 rs1362935450 10:50686399-50686399 10:49478353-49478353
32 ERCC6 NM_000124.4(ERCC6):c.1398-2A>GSNV 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>GSNV 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>GSNV 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>GSNV 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>ASNV 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>CSNV 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

Expression for De Sanctis-Cacchione Syndrome

Search GEO for disease gene expression data for De Sanctis-Cacchione Syndrome.

Pathways for De Sanctis-Cacchione Syndrome

GO Terms for De Sanctis-Cacchione Syndrome

Cellular components related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.62 PGBD3 ERCC6

Molecular functions related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 PGBD3 ERCC6

Sources for De Sanctis-Cacchione 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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