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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

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Neural Tube Defects (D009436)
..Starting node ..Pentalogy of Cantrell (D058502)
Child Nodes:
Sister Nodes:
..Acalvaria (C535570)
..Anencephaly (D000757) 4
..Arnold-Chiari Malformation (D001139) 1
..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
..Encephalocele (D004677) 24
..Meningocele (D008588) 5
..Meningomyelocele (D008591) 3
..Midline Defects, X-Linked (C564054)
..Neural tube defects X-linked (C536410)
..Pentalogy of Cantrell (D058502)
..Spinal Dysraphism (D016135) 10
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8777

Name:

Pentalogy of Cantrell

Definition:

Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.

Alternative IDs:

OMIM:313850

ParentIDs:

MESH:D000015|MESH:D009436

TreeNumbers:

C10.500.680.705 |C16.131.077.696 |C16.131.666.680.705

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: D058502
MeSH: D058502
OMIM: 313850;

Genes: THAS;

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0002323	Anencephaly
3	HP:0000175	Cleft palate
4	HP:0000204	Cleft upper lip
5	HP:0000776	Congenital diaphragmatic hernia
6	HP:0000476	Cystic hygroma
7	HP:0001683	Ectopia cordis
8	HP:0000238	Hydrocephalus
9	HP:0000047	Hypospadias
10	HP:0001539	Omphalocele
11	HP:0001643	Patent ductus arteriosus
12	HP:0002089	Pulmonary hypoplasia
13	HP:0000104	Renal agenesis
14	HP:0001669	Transposition of the great arteries
15	HP:0002933	Ventral hernia

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
NM_001098.2(ACO2):c.1819C>T (p.Arg607Cys)	-1	-	Likely pathogenic	864309499	RCV000202502;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41922323	41922323	NM_001098.2:c.1819C>T	NP_001089.1:p.Arg607Cys	NC_000022.10:g.41922323C>T	-	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell
NM_001098.2(ACO2):c.2135C>T (p.Pro712Leu)	-1	-	Likely pathogenic	375761361	RCV000202542;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41923953	41923953	NM_001098.2:c.2135C>T	NP_001089.1:p.Pro712Leu	NC_000022.10:g.41923953C>T	-	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell
NM_001098.2(ACO2):c.2208G>C (p.Lys736Asn)	-1	-	Pathogenic	786204829	RCV000169733;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41924026	41924026	NM_001098.2:c.2208G>C	NP_001089.1:p.Lys736Asn	NC_000022.10:g.41924026G>C	OMIM Allelic Variant:100850.0005	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell
NM_001098.2(ACO2):c.2328_2331delGGAA (p.Lys776Asnfs)	-1	-	Pathogenic	786204830	RCV000169734;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41924602	41924605	NM_001098.2:c.2328_2331delGGAA	NP_001089.1:p.Lys776Asnfs	NC_000022.10:g.41924602_41924605delGGAA	OMIM Allelic Variant:100850.0006	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell
NM_001098.2(ACO2):c.336C>G (p.Ser112Arg)	50	ACO2	Pathogenic	786200924	RCV000022421;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41903957	41903957	NM_001098.2:c.336C>G	NP_001089.1:p.Ser112Arg	NC_000022.10:g.41903957C>G	OMIM Allelic Variant:100850.0001	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell
NM_001098.2(ACO2):c.776G>A (p.Gly259Asp)	50	ACO2	Pathogenic	786204828	RCV000169732;	N	MedGen:C3281192,OMIM:614559,ORPHA:313850	22	41911862	41911862	NM_001098.2:c.776G>A	NP_001089.1:p.Gly259Asp	NC_000022.10:g.41911862G>A	OMIM Allelic Variant:100850.0004	C3281192 614559 Infantile cerebellar-retinal degeneration; C1839172 313850 Pentalogy of Cantrell