MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Fanconi Anemia (D005199)
..Starting node ..FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Child Nodes:
Sister Nodes:
..Estren-Dameshek Variant of Fanconi Anemia (C565572)
..Estren-Dameshek Variant of Fanconi Pancytopenia (C565573)
..Fanconi Anemia, Complementation Group B (C564497)
..FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
..Fanconi Anemia, Complementation Group D1 (C563980)
..FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
..FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
..FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
..FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
..Fanconi Anemia, Complementation Group I (C563802)
..Fanconi Anemia, Complementation Group J (C563801)
..FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
..Fanconi Anemia, Complementation Group N (C563657)
..FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
..FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
..FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
..FANCONI ANEMIA, COMPLEMENTATION GROUP R (OMIM:617244)
..FANCONI ANEMIA, COMPLEMENTATION GROUP T (OMIM:616435)
..FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
..FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
..Milner Khallouf Gibson syndrome (C537473)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4631

Name:

FANCONI ANEMIA, COMPLEMENTATION GROUP V

Definition:

Alternative IDs:

DO:DOID:0111080

ParentIDs:

MESH:D005199

TreeNumbers:

C15.378.071.085.080.280/617243 |C15.378.190.196.080.280/617243 |C16.320.077.280/617243 |C18.452.284.280/617243

Synonyms:

FANCV

Slim Mappings:

Blood disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 617243
MeSH: 617243
OMIM: 617243;
MSeqDR :
Genes: NTF4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001903	Anemia
3	HP:0005528	Bone marrow hypocellularity
4	HP:0006254	Elevated alpha-fetoprotein
5	HP:0000252	Microcephaly
6	HP:0001875	Neutropenia
7	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
8	HP:0001873	Thrombocytopenia

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_006341.4(MAD2L2):c.254T>A (p.Val85Glu)	10459	MAD2L2	Pathogenic	1057517674	RCV000412563\|RCV001194790;	N	MONDO:MONDO:0014985,MedGen:C4310652,OMIM:617243\|MedGen:CN517202	1	11736983	11736983			NC_000001.10:g.11736983A>T	ClinGen:CA16042235,OMIM:604094.0001	C4310652 617243 Fanconi anemia, complementation group V;

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