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

MSeqDR Mitochondrial Disease Portal

*: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: Nails, Malformed (D009264)
..Starting node ..Anonychia congenita (C536377)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..Ameloonychohypohidrotic syndrome (C538245)
..Anonychia congenita (C536377)
..Anonychia onychodystrophy (C536378)
..Anonychia with Flexural Pigmentation (C566278)
..Anonychia, Total, with Microcephaly (C564606)
..Anonychia-Ectrodactyly (C566277)
..Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly (C536379)
..Basan syndrome (C537659)
..Brachymorphism-onychodysplasia-dysphalangism syndrome (C536242)
..Cartwright Nelson Fryns syndrome (C535917)
..Curly hair-acral keratoderma-caries syndrome (C536220)
..Curly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..Deafness enamel hypoplasia nail defects (C535994)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Dermoodontodysplasia (C565103)
..Digitorenocerebral Syndrome (C563052)
..Double Nail for Fifth Toe (C565090)
..Gorlin Bushkell Jensen syndrome (C537289)
..Hereditary koilonychia (C537260)
..Hypospadias-Mental Retardation Syndrome (C563067)
..MAMMARY-DIGITAL-NAIL SYNDROME (OMIM:613689)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 (OMIM:614157)
..NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 (OMIM:614149)
..Oculotrichodysplasia (C564934)
..Onycholysis, Partial, with Scleronychia (C563503)
..Onychotrichodysplasia and neutropenia (C537752)
..Otoonychoperoneal Syndrome (C564912)
..Pili torti onychodysplasia (C537399)
..Pinheiro Freire-Maia Miranda syndrome (C537402)
..Propping Zerres syndrome (C538052)
..Santos Syndrome (C567819)
..Schinzel-Giedion syndrome (C536632)
..Steatocystoma multiplex with natal teeth (C537487)
..Teebi Kaurah syndrome (C536948)
..Temple-Baraitser Syndrome (C567516)
..Toenail Dystrophy, Isolated (C564384)
..Tonoki syndrome (C536967)
..Twenty-Nail Dystrophy (C562907)
..Ulna hypoplasia with mental retardation (C536934)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Witkop syndrome (C536736)
..Yellow Nail Syndrome (D056684) 1
..Zori Stalker Williams syndrome (C536728)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

760

Name:

Anonychia congenita

Definition:

Alternative IDs:

DO:DOID:0050643|OMIM:206800

ParentIDs:

MESH:D009264

TreeNumbers:

C23.300.820/C536377

Synonyms:

Slim Mappings:

Pathology (anatomical condition)

Reference:

MedGen: C536377
MeSH: C536377
OMIM: 206800;
MSeqDR :
Genes: RSPO4; SERPINF2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001798	Anonychia	Congenital onset

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg)	1294	COL7A1	Pathogenic	121912856	RCV000018977\|RCV000018978\|RCV000022479\|RCV000494404\|RCV000626606\|RCV000626605\|RCV000760149\|RCV000763517\|RCV000779415\|RCV001197324;	N	MedGen:C2673611\|MedGen:C1853063\|MedGen:C2673612\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150\|Hum	3	48630971	48630971	3:g.48630971T>C	OMIM:120120.0009,OMIM:120120.0045,ClinGen:CA128526,UniProtKB:Q02388#VAR_001809	C0037268 Abnormality of the skin;
NM_000422.3(KRT17):c.960+5G>A	3872	KRT17	Pathogenic	370554150	RCV000626685;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	17	39777213	39777213	17:g.39777213C>T	ClinGen:CA8563558	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.353G>A (p.Cys118Tyr)	343637	RSPO4	Pathogenic	74315422	RCV000001251;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	947873	947873	20:g.947873C>T	ClinGen:CA114827,UniProtKB:Q2I0M5#VAR_030402,OMIM:610573.0003	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.319T>C (p.Cys107Arg)	343637	RSPO4	Pathogenic	74315421	RCV000001250;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	947907	947907	20:g.947907A>G	OMIM:610573.0002,ClinGen:CA114826,UniProtKB:Q2I0M5#VAR_030401	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.301C>T (p.Gln101Ter)	343637	RSPO4	Pathogenic	387907026	RCV000023830;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	947925	947925	20:g.947925G>A	ClinGen:CA129497,OMIM:610573.0006	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.218G>A (p.Cys73Tyr)	343637	RSPO4	Pathogenic	74315423	RCV000001252;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	948643	948643	20:g.948643C>T	ClinGen:CA114828,OMIM:610573.0004	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.199G>C (p.Gly67Arg)	343637	RSPO4	Pathogenic	387907028	RCV000023832;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	948662	948662	20:g.948662C>G	ClinGen:CA129501,OMIM:610573.0008	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.194A>G (p.Gln65Arg)	343637	RSPO4	Pathogenic	74315420	RCV000001249;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	948667	948667	20:g.948667T>C	ClinGen:CA114825,UniProtKB:Q2I0M5#VAR_030399,OMIM:610573.0001	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.190C>T (p.Arg64Cys)	343637	RSPO4	Pathogenic	387907027	RCV000023831;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	948671	948671	20:g.948671G>A	ClinGen:CA129499,OMIM:610573.0007	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.98dup (p.Asn34fs)	343637	RSPO4	Pathogenic	768138495	RCV000001253;	N	Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	948762	948763	NC_000020.10:g.948768dup	ClinGen:CA114830,OMIM:610573.0005	C0265998 206800 Anonychia;
NM_001029871.4(RSPO4):c.79+1G>A	343637	RSPO4	Pathogenic	775644973	RCV000622661\|RCV003222063\|RCV003444150;	N	MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001798,Human Phenotype Ontology:HP:0007593,Human Phenotype Ontology:HP:0008384,MONDO:MONDO:0008798,MedGen:C0265998,OMIM:206800, Orphanet:79143, Orphanet:94150	20	982728	982728	20:g.982728C>T	ClinGen:CA9725803	C0950123 Inborn genetic diseases;

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