DSC
MCID: DSN001
MIFTS: 29

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 57 53 75 29 13 6 40 73
Xerodermic Idiocy 53 75
Xerodermic Idiocy of De Sanctis and Cacchione 75
Dsc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
de sanctis-cacchione syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for De Sanctis-Cacchione Syndrome

UniProtKB/Swiss-Prot : 75 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 xeroderma pigmentosum, variant type and xeroderma pigmentosum, complementation group a. 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 ataxia

Description from OMIM: 278800

Related Diseases for De Sanctis-Cacchione Syndrome

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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spasticity
microcephaly
mental deterioration
hyporeflexia
choreoathetosis
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
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)

Radiology:
cerebral and olivopontocerebellar atrophy

Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Growth:
dwarfism

G U:
gonadal hypoplasia


Clinical features from OMIM:

278800

Human phenotypes related to De Sanctis-Cacchione Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 microcephaly 32 HP:0000252
5 sensorineural hearing impairment 32 HP:0000407
6 photophobia 32 HP:0000613
7 melanoma 32 HP:0002861
8 keratitis 32 HP:0000491
9 areflexia 32 HP:0001284
10 conjunctivitis 32 HP:0000509
11 severe short stature 32 HP:0003510
12 mental deterioration 32 HP:0001268
13 hyporeflexia 32 HP:0001265
14 choreoathetosis 32 HP:0001266
15 cutaneous photosensitivity 32 HP:0000992
16 cerebellar atrophy 32 HP:0001272
17 ectropion 32 HP:0000656
18 telangiectasia 32 HP:0001009
19 poikiloderma 32 HP:0001029
20 entropion 32 HP:0000621
21 dermal atrophy 32 HP:0004334
22 olivopontocerebellar atrophy 32 HP:0002542
23 defective dna repair after ultraviolet radiation damage 32 HP:0003079
24 gonadal hypoplasia 32 HP:0008639

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:

41
Skin

Publications for De Sanctis-Cacchione Syndrome

Articles related to De Sanctis-Cacchione Syndrome:

(show all 17)
# Title Authors Year
1
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. ( 28255305 )
2017
2
De Sanctis-Cacchione syndrome: A case report and literature review. ( 28491977 )
2015
3
Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia. ( 24803908 )
2014
4
De Sanctis-Cacchione syndrome. ( 24177634 )
2013
5
De Sanctis-Cacchione syndrome in a female infant--case report. ( 24474111 )
2013
6
De sanctis cacchione syndrome. ( 20921639 )
1999
7
De Sanctis Cacchione syndrome. ( 8406720 )
1993
8
De-Sanctis cacchione syndrome. ( 7182366 )
1982
9
The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. ( 6280438 )
1982
10
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome. ( 7305444 )
1981
11
De Sanctis-Cacchione syndrome. ( 453864 )
1979
12
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome). ( 701525 )
1978
13
The genetic defect in the de Sanctis-Cacchione syndrome. ( 4436596 )
1974
14
Xerodermic idiocy in identical twins. ( 4443986 )
1974
15
Xerodermic idiocy or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism. ( 4683062 )
1973
16
The De-Sanctis Cacchione Syndrome. ( 29176128 )
1969
17
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME. ( 14246158 )
1965

Variations for De Sanctis-Cacchione Syndrome

ClinVar genetic disease variations for De Sanctis-Cacchione Syndrome:

6 (show top 50) (show all 181)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
2 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
3 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
4 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
5 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh37 Chromosome 10, 50690855: 50690855
6 ERCC6 NM_000124.3(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121917904 GRCh38 Chromosome 10, 49482809: 49482809
7 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh37 Chromosome 10, 50669519: 50669519
8 ERCC6 NM_000124.3(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 GRCh38 Chromosome 10, 49461473: 49461473
9 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh37 Chromosome 10, 50732195: 50732195
10 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 GRCh38 Chromosome 10, 49524149: 49524149
11 ERCC6 NM_000124.3(ERCC6): c.1281C> T (p.Phe427=) single nucleotide variant Likely benign rs267602508 NCBI36 Chromosome 10, 50402201: 50402201
12 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
13 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
14 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh37 Chromosome 10, 50669428: 50669429
15 ERCC6 NM_000124.3(ERCC6): c.3952_3953delAG (p.Arg1318Glyfs) deletion Likely pathogenic rs765825423 GRCh38 Chromosome 10, 49461382: 49461383
16 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh38 Chromosome 10, 49470424: 49470424
17 ERCC6 NM_000124.3(ERCC6): c.3536delA (p.Tyr1179Leufs) deletion Pathogenic/Likely pathogenic rs786205171 GRCh37 Chromosome 10, 50678470: 50678470
18 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh37 Chromosome 10, 50678594: 50678594
19 ERCC6 NM_000124.3(ERCC6): c.3412dupA (p.Thr1138Asnfs) duplication Pathogenic/Likely pathogenic rs786205170 GRCh38 Chromosome 10, 49470548: 49470548
20 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
21 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
22 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
23 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
24 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh38 Chromosome 10, 49473613: 49473613
25 ERCC6 NM_000124.3(ERCC6): c.2599-26A> G single nucleotide variant Conflicting interpretations of pathogenicity rs4253196 GRCh37 Chromosome 10, 50681659: 50681659
26 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh37 Chromosome 10, 50690735: 50690735
27 ERCC6 NM_000124.3(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 GRCh38 Chromosome 10, 49482689: 49482689
28 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh38 Chromosome 10, 49482760: 49482760
29 ERCC6 NM_000124.3(ERCC6): c.2096dupC (p.Leu700Valfs) duplication Likely pathogenic rs774791374 GRCh37 Chromosome 10, 50690806: 50690806
30 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
31 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
32 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh37 Chromosome 10, 50691430: 50691430
33 ERCC6 NM_000124.3(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 GRCh38 Chromosome 10, 49483384: 49483384
34 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh38 Chromosome 10, 49483503: 49483503
35 ERCC6 NM_000124.3(ERCC6): c.1835G> A (p.Arg612Gln) single nucleotide variant Uncertain significance rs201894064 GRCh37 Chromosome 10, 50691549: 50691549
36 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
37 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
38 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh37 Chromosome 10, 50713929: 50713929
39 ERCC6 NM_000124.3(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 GRCh38 Chromosome 10, 49505883: 49505883
40 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh38 Chromosome 10, 49474074: 49474074
41 ERCC6 NM_000124.3(ERCC6): c.2551T> C (p.Trp851Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368728467 GRCh37 Chromosome 10, 50682120: 50682120
42 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh38 Chromosome 10, 49530797: 49530797
43 ERCC6 NM_000124.3(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 GRCh37 Chromosome 10, 50738843: 50738843
44 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh37 Chromosome 10, 50736472: 50736472
45 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh38 Chromosome 10, 49528426: 49528426
46 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh37 Chromosome 10, 50678372: 50678372
47 ERCC6 NM_000124.3(ERCC6): c.3634T> A (p.Cys1212Ser) single nucleotide variant Uncertain significance rs886042655 GRCh38 Chromosome 10, 49470326: 49470326
48 ERCC6 NM_000124.3(ERCC6): c.4438_4440delTCT (p.Ser1480del) deletion Uncertain significance rs886047032 GRCh37 Chromosome 10, 50666903: 50666905
49 ERCC6 NM_000124.3(ERCC6): c.4438_4440delTCT (p.Ser1480del) deletion Uncertain significance rs886047032 GRCh38 Chromosome 10, 49458857: 49458859
50 ERCC6 NM_000124.3(ERCC6): c.3453A> G (p.Leu1151=) single nucleotide variant Conflicting interpretations of pathogenicity rs771604820 GRCh37 Chromosome 10, 50678553: 50678553

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

Sources for De Sanctis-Cacchione Syndrome

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