MCID: DSN001
MIFTS: 28

De Sanctis-Cacchione Syndrome

Categories: Genetic 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

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, variant type 11.8
2 xeroderma pigmentosum, complementation group a 11.4
3 peripheral nervous system disease 10.2
4 neuropathy 10.2
5 dwarfism 10.2
6 spondyloepimetaphyseal dysplasia, strudwick type 9.8
7 moyamoya disease 1 9.8
8 spondyloepimetaphyseal dysplasia, matrilin-3 related 9.8
9 lymphoma 9.8
10 astrocytoma 9.8
11 cerebritis 9.8
12 cerebrovascular disease 9.8
13 toxoplasmosis 9.8
14 hypoxia 9.8
15 dysspondyloenchondromatosis 9.8

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

GU:
gonadal hypoplasia


Clinical features from OMIM:

278800

Human phenotypes related to De Sanctis-Cacchione Syndrome:

32 (show all 23)
# 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 keratitis 32 HP:0000491
8 areflexia 32 HP:0001284
9 conjunctivitis 32 HP:0000509
10 severe short stature 32 HP:0003510
11 mental deterioration 32 HP:0001268
12 hyporeflexia 32 HP:0001265
13 choreoathetosis 32 HP:0001266
14 cutaneous photosensitivity 32 HP:0000992
15 cerebellar atrophy 32 HP:0001272
16 ectropion 32 HP:0000656
17 telangiectasia 32 HP:0001009
18 poikiloderma 32 HP:0001029
19 entropion 32 HP:0000621
20 dermal atrophy 32 HP:0004334
21 olivopontocerebellar atrophy 32 HP:0002542
22 defective dna repair after ultraviolet radiation damage 32 HP:0003079
23 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 16)
# 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 or De Sanctis Cacchione syndrome. A description of an 8-year-old patient with xeroderma pigmentosum, mental retardation, and dwarfism. ( 4683062 )
1973
15
The De-Sanctis Cacchione Syndrome. ( 29176128 )
1969
16
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
# 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.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
4 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
5 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
6 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
7 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
8 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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