DSC
MCID: DSN001
MIFTS: 38

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 74 29 13 6 40 72
Xerodermic Idiocy 53 74
Xerodermic Idiocy of De Sanctis and Cacchione 74
Dsc 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
de sanctis-cacchione syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 278800
MedGen 42 C0265201
UMLS 72 C0265201

Summaries for De Sanctis-Cacchione Syndrome

UniProtKB/Swiss-Prot : 74 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 ataxia

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 101)
# Related Disease Score Top Affiliating Genes
1 cockayne syndrome 29.8 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 hypogonadotropism 10.5
11 neuropathy 10.5
12 glioma 10.4
13 glial tumor 10.4
14 candidiasis, familial, 1 10.4
15 trichothiodystrophy 1, photosensitive 10.4
16 alacrima, achalasia, and mental retardation syndrome 10.4
17 chorea, childhood-onset, with psychomotor retardation 10.4
18 autosomal recessive disease 10.4
19 sensorineural hearing loss 10.4
20 choreatic disease 10.4
21 basal cell carcinoma 10.4
22 eyelid carcinoma 10.4
23 dwarfism 10.4
24 dysphagia 10.4
25 glioblastoma multiforme 10.4
26 glioblastoma 10.4
27 moyamoya disease 1 10.2
28 helix syndrome 10.2
29 astrocytoma 10.1
30 47,xyy 10.1
31 pulmonary alveolar microlithiasis 10.1
32 immunodeficiency, common variable, 10 10.1
33 visual epilepsy 10.1
34 epilepsy 10.1
35 rectum cancer 10.1
36 focal epilepsy 10.1
37 temporal lobe epilepsy 10.1
38 seizure disorder 10.1
39 rapidly involuting congenital hemangioma 10.1
40 alzheimer disease 9.9
41 atherosclerosis susceptibility 9.9
42 burkitt lymphoma 9.9
43 hypercholesterolemia, familial, 1 9.9
44 renal cell carcinoma, nonpapillary 9.9
45 leukemia, chronic lymphocytic 9.9
46 polykaryocytosis inducer 9.9
47 spondyloepimetaphyseal dysplasia, strudwick type 9.9
48 cystic fibrosis 9.9
49 pancreatic cancer 9.9
50 late-onset retinal degeneration 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:

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 areflexia 32 HP:0001284
8 cutaneous photosensitivity 32 HP:0000992
9 melanoma 32 HP:0002861
10 keratitis 32 HP:0000491
11 mental deterioration 32 HP:0001268
12 conjunctivitis 32 HP:0000509
13 severe short stature 32 HP:0003510
14 hyporeflexia 32 HP:0001265
15 choreoathetosis 32 HP:0001266
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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
spasticity
microcephaly
mental deterioration
hyporeflexia
choreoathetosis
more
Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
G U:
gonadal hypoplasia

Radiology:
cerebral and olivopontocerebellar atrophy

Eyes:
photophobia
keratitis
conjunctivitis
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:

41
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. 8 71
10767341 2000
2
Peripheral neuropathy in xeroderma pigmentosum. 38 8
2168777 1990
3
XERODERMA PIGMENTOSUM WITH NEUROLOGICAL COMPLICATIONS: THE DE SANCTIS-CACCHIONE SYNDROME. 38 8
14246158 1965
4
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. 71
9443879 1998
5
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. 8
8566949 1996
6
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. 8
1372469 1992
7
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. 8
3545087 1987
8
Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. 8
3705928 1986
9
Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. 8
4811796 1974
10
Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. 8
4505415 1972
11
Xeroderma pigmentosum. Clinical and laboratory investigation of its basic defect. 8
5818379 1969
12
[Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study]. 8
14813341 1950
13
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. 38
28255305 2017
14
Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana. 38
29430532 2016
15
De Sanctis-Cacchione syndrome: A case report and literature review. 38
28491977 2015
16
Xeroderma pigmentosum/de sanctis-cacchione syndrome: unusual cause of ataxia. 38
24803908 2014
17
De Sanctis-Cacchione syndrome in a female infant--case report. 38
24474111 2013
18
De Sanctis-Cacchione syndrome. 38
24177634 2013
19
[De Sanctis-Cacchione syndrome]. 38
16476302 2005
20
De sanctis cacchione syndrome. 38
20921639 1999
21
[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?]. 38
8459809 1993
22
De Sanctis Cacchione syndrome. 38
8406720 1993
23
Three nonsense mutations responsible for group A xeroderma pigmentosum. 38
1372102 1992
24
De Sanctis-Caccione syndrome: xeroderma pigmentosum with oligophrenia, short stature and neurologic disorders. 38
1612905 1992
25
[Electrophysiological studies in siblings of De Sanctis-Cacchione syndrome]. 38
2612104 1989
26
[De Sanctis-Cacchione syndrome. Apropos of 2 cases]. 38
3537579 1986
27
Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. 38
3970583 1985
28
Differential features of sister-chromatid exchange responses to ultraviolet radiation and caffeine in xeroderma pigmentosum lymphoblastoid cell lines. 38
6865988 1983
29
De-Sanctis cacchione syndrome. 38
7182366 1982
30
The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies. 38
6280438 1982
31
[De Sanctis-Cacchione syndrome: a report of a case and a review of the literature (author's transl)]. 38
7333057 1981
32
[De Sanctis-Cacchione syndrome--a case report]. 38
7265511 1981
33
Heat-labile glucose-6-phosphate dehydrogenase in cultured fibroblasts from patients with De Sanctis-Cacchione Syndrome. 38
7305444 1981
34
De Sanctis-Cacchione syndrome. 38
453864 1979
35
Cranial computed tomography findings in xeroderma pigmentosum with neurologic manifestations (De Sanctis-Cacchione syndrome). 38
701525 1978
36
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurologic manifestations) (author's transl)]. 38
694280 1978
37
Replication of chromosomal DNA in cultured abnormal human cells. 38
149757 1978
38
[De Sanctis-Cacchione syndrome]. 38
691376 1978
39
Xeroderma pigmentosum: heterogeneous syndrome and model for UV carcinogenesis. 38
719183 1978
40
[De Sanctis-Cacchione syndrome]. 38
612790 1977
41
Enzyme defects in xeroderma pigmentosum. 38
15633972 1976
42
Incorporation of (3H)thymidine stimulated by ultraviolet radiation into human fibroblast cultures. 38
1250250 1976
43
Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV irradiation. 38
1188925 1975
44
Xerodermic idiocy in identical twins. 38
4443986 1974
45
The genetic defect in the de Sanctis-Cacchione syndrome. 38
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. 38
4683062 1973
47
DNA chain elongation and joining in normal human and xeroderma pigmentosum cells after ultraviolet irradiation. 38
5056962 1972
48
[Case of xerodermic idiocy (Sanctis-Kakione syndrome)]. 38
4659418 1972
49
[De Sanctis-Cacchione syndrome]. 38
5507869 1970
50
[De Sanctis-Cacchione syndrome (xeroderma pigmentosum with neurological complications)]. 38
5456594 1970

Variations for De Sanctis-Cacchione Syndrome

ClinVar genetic disease variations for De Sanctis-Cacchione Syndrome:

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERCC6 NM_000124.4(ERCC6): c.2560C> T (p.Gln854Ter) single nucleotide variant Pathogenic rs1554787509 10:50682111-50682111 10:49474065-49474065
2 ERCC6 NM_000124.4(ERCC6): c.2569C> T (p.Arg857Ter) single nucleotide variant Pathogenic rs751448793 10:50682102-50682102 10:49474056-49474056
3 ERCC6 NM_000124.4(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 10:50686483-50686483 10:49478437-49478437
4 ERCC6 NM_000124.4(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 10:50732119-50732119 10:49524073-49524073
5 ERCC6 NM_000124.4(ERCC6): c.3862C> T (p.Arg1288Ter) single nucleotide variant Pathogenic rs185142838 10:50669519-50669519 10:49461473-49461473
6 ERCC6 NM_000124.4(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 10:50680518-50680518 10:49472472-49472472
7 ERCC6 NM_000124.4(ERCC6): c.2167C> T (p.Gln723Ter) single nucleotide variant Pathogenic/Likely pathogenic rs151242354 10:50690735-50690735 10:49482689-49482689
8 ERCC6 NM_000124.4(ERCC6): c.3536del (p.Tyr1179fs) deletion Pathogenic/Likely pathogenic rs786205171 10:50678470-50678470 10:49470424-49470424
9 ERCC6 NM_000124.4(ERCC6): c.3412dup (p.Thr1138fs) duplication Pathogenic/Likely pathogenic rs786205170 10:50678594-50678594 10:49470548-49470548
10 ERCC6 NM_000124.4(ERCC6): c.466C> T (p.Gln156Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751838040 10:50738843-50738843 10:49530797-49530797
11 ERCC6 NM_000124.4(ERCC6): c.2047C> T (p.Arg683Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917904 10:50690855-50690855 10:49482809-49482809
12 ERCC6 NM_000124.4(ERCC6): c.1009A> T (p.Lys337Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1198241866 10:50732467-50732467 10:49524421-49524421
13 ERCC6 NM_000124.4(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 10:50691550-50691550 10:49483504-49483504
14 ERCC6 NM_000124.4(ERCC6): c.2839C> T (p.Arg947Ter) single nucleotide variant Pathogenic/Likely pathogenic rs906755254 10:50680507-50680507 10:49472461-49472461
15 ERCC6 NM_000124.4(ERCC6): c.1526+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs371739894 10:50713929-50713929 10:49505883-49505883
16 ERCC6 NM_000124.4(ERCC6): c.4062+2T> A single nucleotide variant Likely pathogenic rs1554873950 10:50668417-50668417 10:49460371-49460371
17 ERCC6 NM_000124.4(ERCC6): c.3871dup (p.Gln1291fs) duplication Likely pathogenic rs1386369933 10:50669509-50669509 10:49461464-49461464
18 ERCC6 NM_000124.4(ERCC6): c.3778+1G> C single nucleotide variant Likely pathogenic rs1554875114 10:50678227-50678227 10:49470181-49470181
19 ERCC6 NM_000124.4(ERCC6): c.2829+1G> A single nucleotide variant Likely pathogenic rs1554875522 10:50680954-50680954 10:49472908-49472908
20 ERCC6 NM_000124.4(ERCC6): c.2383-1G> A single nucleotide variant Likely pathogenic rs1554787554 10:50682289-50682289 10:49474243-49474243
21 ERCC6 NM_000124.4(ERCC6): c.422+1G> A single nucleotide variant Likely pathogenic rs1198472093 10:50740588-50740588 10:49532542-49532542
22 ERCC6 NM_000124.4(ERCC6): c.257_258GC[1] (p.Ala87fs) short repeat Likely pathogenic rs1554794620 10:50740750-50740752 10:49532705-49532706
23 ERCC6 NM_000124.4(ERCC6): c.4063-1G> C single nucleotide variant Likely pathogenic rs766980240 10:50667281-50667281 10:49459235-49459235
24 ERCC6 NM_000124.4(ERCC6): c.3627dup (p.Lys1210Ter) duplication Likely pathogenic rs1554875154 10:50678378-50678378 10:49470333-49470333
25 ERCC6 NM_000124.4(ERCC6): c.2169+1G> A single nucleotide variant Likely pathogenic rs1441655600 10:50690732-50690732 10:49482686-49482686
26 ERCC6 NM_000124.4(ERCC6): c.2287-2A> G single nucleotide variant Likely pathogenic rs754978734 10:50684358-50684358 10:49476312-49476312
27 ERCC6 NM_000124.4(ERCC6): c.2286+1G> A single nucleotide variant Likely pathogenic rs1362935450 10:50686399-50686399 10:49478353-49478353
28 ERCC6 NM_000124.4(ERCC6): c.1398-2A> G single nucleotide variant Likely pathogenic rs1317145066 10:50714060-50714060 10:49506014-49506014
29 ERCC6 NM_000124.4(ERCC6): c.4399C> T (p.Arg1467Ter) single nucleotide variant Likely pathogenic rs762976316 10:50666944-50666944 10:49458898-49458898
30 ERCC6 NM_000124.4(ERCC6): c.3984-2A> G single nucleotide variant Likely pathogenic rs1554873973 10:50668499-50668499 10:49460453-49460453
31 ERCC6 NM_000124.4(ERCC6): c.3614del (p.Lys1205fs) deletion Likely pathogenic rs1554875155 10:50678391-50678392 10:49470346-49470346
32 ERCC6 NM_000124.3(ERCC6): c.3607_3608ins26 (p.?) insertion Likely pathogenic rs786205172 10:50678398-50678398 10:49470352-49470353
33 ERCC6 NM_000124.4(ERCC6): c.544-2A> G single nucleotide variant Likely pathogenic rs1554794073 10:50736573-50736573 10:49528527-49528527
34 ERCC6 NM_000124.4(ERCC6): c.207dup (p.Pro70fs) duplication Likely pathogenic rs1554794641 10:50740803-50740803 10:49532758-49532758
35 ERCC6 NM_000124.4(ERCC6): c.3957del (p.Ile1320fs) deletion Likely pathogenic rs1554874073 10:50669423-50669424 10:49461378-49461378
36 ERCC6 NM_000124.4(ERCC6): c.1527-2A> G single nucleotide variant Likely pathogenic rs768608345 10:50708744-50708744 10:49500698-49500698
37 ERCC6 NM_000124.4(ERCC6): c.3589_3590GA[3] (p.Lys1198fs) short repeat Likely pathogenic rs1287286877 10:50678413-50678413 10:49470368-49470369
38 ERCC6 NM_000124.4(ERCC6): c.779_780dup (p.Arg261fs) duplication Likely pathogenic rs1254008304 10:50732695-50732695 10:49524650-49524651
39 ERCC6 NM_000124.4(ERCC6): c.422+1G> C single nucleotide variant Likely pathogenic rs1198472093 10:50740588-50740588 10:49532542-49532542
40 ERCC6 NM_000124.4(ERCC6): c.214del (p.Leu72fs) deletion Likely pathogenic rs1554794640 10:50740796-50740797 10:49532751-49532751
41 ERCC6 NM_000124.4(ERCC6): c.61C> T (p.Gln21Ter) single nucleotide variant Likely pathogenic rs577021605 10:50740950-50740950 10:49532904-49532904
42 ERCC6 NM_000124.4(ERCC6): c.526C> T (p.Arg176Ter) single nucleotide variant Likely pathogenic rs771781694 10:50738783-50738783 10:49530737-49530737
43 ERCC6 NM_000124.4(ERCC6): c.439del (p.Ser146_Leu147insTer) deletion Likely pathogenic rs1554794360 10:50738869-50738870 10:49530824-49530824
44 ERCC6 NM_000124.4(ERCC6): c.1821+1G> A single nucleotide variant Likely pathogenic rs1228919836 10:50701162-50701162 10:49493116-49493116
45 ERCC6 NM_000124.4(ERCC6): c.1821delinsAA (p.Glu608fs) indel Likely pathogenic rs1554789393 10:50701162-50701163 10:49493117-49493117
46 ERCC6 NM_000124.4(ERCC6): c.1397+1G> C single nucleotide variant Likely pathogenic rs1554793174 10:50732078-50732078 10:49524032-49524032
47 ERCC6 NM_000124.4(ERCC6): c.1135G> T (p.Glu379Ter) single nucleotide variant Likely pathogenic rs1554793270 10:50732341-50732341 10:49524295-49524295
48 ERCC6 NM_000124.4(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 10:50736472-50736472 10:49528426-49528426
49 ERCC6 NM_000124.4(ERCC6): c.1954C> T (p.Arg652Ter) single nucleotide variant Likely pathogenic rs767247987 10:50691430-50691430 10:49483384-49483384
50 ERCC6 NM_000124.4(ERCC6): c.3952_3953del (p.Arg1318fs) deletion Likely pathogenic rs765825423 10:50669428-50669429 10:49461382-49461383

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 8.96 PGBD3 ERCC6
2 transcription elongation factor complex GO:0008023 8.62 PGBD3 ERCC6

Biological processes related to De Sanctis-Cacchione Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.62 PGBD3 ERCC6
2 cellular response to DNA damage stimulus GO:0006974 9.61 PGBD3 ERCC6
3 DNA repair GO:0006281 9.61 PGBD3 ERCC6
4 response to oxidative stress GO:0006979 9.6 PGBD3 ERCC6
5 response to toxic substance GO:0009636 9.59 PGBD3 ERCC6
6 multicellular organism growth GO:0035264 9.58 PGBD3 ERCC6
7 transcription-coupled nucleotide-excision repair GO:0006283 9.58 PGBD3 ERCC6
8 DNA duplex unwinding GO:0032508 9.57 PGBD3 ERCC6
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.56 PGBD3 ERCC6
10 response to UV GO:0009411 9.55 PGBD3 ERCC6
11 base-excision repair GO:0006284 9.54 PGBD3 ERCC6
12 activation of JUN kinase activity GO:0007257 9.52 PGBD3 ERCC6
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.51 PGBD3 ERCC6
14 photoreceptor cell maintenance GO:0045494 9.49 PGBD3 ERCC6
15 positive regulation of gene expression, epigenetic GO:0045815 9.48 PGBD3 ERCC6
16 response to gamma radiation GO:0010332 9.46 PGBD3 ERCC6
17 response to X-ray GO:0010165 9.43 PGBD3 ERCC6
18 positive regulation of DNA-templated transcription, elongation GO:0032786 9.4 PGBD3 ERCC6
19 activation of JNKK activity GO:0007256 9.37 PGBD3 ERCC6
20 response to UV-B GO:0010224 9.32 PGBD3 ERCC6
21 regulation of DNA-templated transcription, elongation GO:0032784 9.26 PGBD3 ERCC6
22 pyrimidine dimer repair GO:0006290 9.16 PGBD3 ERCC6
23 response to superoxide GO:0000303 8.96 PGBD3 ERCC6
24 transcription elongation from RNA polymerase I promoter GO:0006362 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 chromatin binding GO:0003682 9.4 PGBD3 ERCC6
2 protein-containing complex binding GO:0044877 9.37 PGBD3 ERCC6
3 protein C-terminus binding GO:0008022 9.32 PGBD3 ERCC6
4 helicase activity GO:0004386 9.26 PGBD3 ERCC6
5 protein N-terminus binding GO:0047485 9.16 PGBD3 ERCC6
6 DNA-dependent ATPase activity GO:0008094 8.96 PGBD3 ERCC6
7 protein tyrosine kinase activator activity GO:0030296 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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