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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
Parent Node: Xeroderma Pigmentosum (D014983)
..Starting node ..De Sanctis-Cacchione syndrome (C535992)
Child Nodes:
Sister Nodes:
..De Sanctis-Cacchione syndrome (C535992)
..Trichothiodystrophy, Type 1 (C564734)
..UV-SENSITIVE SYNDROME 1 (OMIM:600630)
..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
..Xeroderma Pigmentosum IX (C564731)
..Xeroderma Pigmentosum, Autosomal Dominant, Mild (C565989)
..Xeroderma Pigmentosum, Complementation Group B (C562590)
..Xeroderma Pigmentosum, Complementation Group C (C567886)
..Xeroderma Pigmentosum, Complementation Group D (C562591)
..Xeroderma Pigmentosum, Complementation Group E (C564732)
..Xeroderma Pigmentosum, Complementation Group F (C562592)
..Xeroderma Pigmentosum, Complementation Group G (C562593)
..Xeroderma pigmentosum, type 9 (C536765)
..Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
..Xeroderma pigmentosum, variant type (C536766)
..XFE Progeroid Syndrome (C567043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3249

Name:

De Sanctis-Cacchione syndrome

Definition:

Alternative IDs:

OMIM:278800

ParentIDs:

MESH:D004392|MESH:D007006|MESH:D008607|MESH:D014983

TreeNumbers:

C04.834.867/C535992 |C05.116.099.343/C535992 |C10.597.606.643/C535992 |C16.131.831.936/C535992 |C16.320.240/C535992 |C16.320.850.970/C535992 |C17.800.600.925/C535992 |C17.800.621.936/C535992 |C17.800.804.936/C535992 |C17.800.827.970/C535992 |C18.452.284.975/C53599

Synonyms:

Desanctis-Cacchione Syndrome |Xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia |Xerodermic idiocy of de Sanctis and Cacchione

Slim Mappings:

Reference:

MedGen: C535992
MeSH: C535992
OMIM: 278800;

Genes: ERCC6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001284	Areflexia
3	HP:0001251	Ataxia
4	HP:0001272	Cerebellar atrophy
5	HP:0001266	Choreoathetosis
6	HP:0000509	Conjunctivitis
7	HP:0000992	Cutaneous photosensitivity
8	HP:0003079	Defective DNA repair after ultraviolet radiation damage
9	HP:0004334	Dermal atrophy
10	HP:0000656	Ectropion
11	HP:0000621	Entropion
12	HP:0008639	Gonadal hypoplasia
13	HP:0001265	Hyporeflexia
14	HP:0001249	Intellectual disability
15	HP:0000491	Keratitis
16	HP:0001268	Mental deterioration
17	HP:0000252	Microcephaly
18	HP:0002542	Olivopontocerebellar atrophy
19	HP:0000613	Photophobia
20	HP:0001029	Poikiloderma
21	HP:0000407	Sensorineural hearing impairment
22	HP:0003510	Severe short stature
23	HP:0001257	Spasticity
24	HP:0001009	Telangiectasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)	2074	ERCC6	Pathogenic	121917901	RCV000001769; RCV000001770;	N	MedGen:C0265201,OMIM:278800,SNOMED CT:414673004; MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50686483	50686483	NM_000124.3:c.2203C>T	NP_000115.1:p.Arg735Ter	NC_000010.10:g.50686483G>A	OMIM Allelic Variant:609413.0002	C0751038 133540 Cockayne syndrome B; C0265201 278800 DE SANCTIS-CACCHIONE SYNDROME