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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: Heart Septal Defects, Atrial (D006344)
Parent Node: Limb Deformities, Congenital (D017880)
Parent Node: Rothmund-Thomson Syndrome (D011038)
..Starting node ..Rapadilino syndrome (C535288)
Child Nodes:
Sister Nodes:
..Navajo poikiloderma (C538345)
..PARC syndrome (C537174)
..Rapadilino syndrome (C535288)
..Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris (C564819)
..Spastic paraplegia neuropathy poikiloderma (C536870)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9598

Name:

Rapadilino syndrome

Definition:

Alternative IDs:

OMIM:266280

ParentIDs:

MESH:D004392|MESH:D006344|MESH:D011038|MESH:D017880

TreeNumbers:

C05.116.099.343/C535288 |C05.660.585/C535288 |C14.240.400.560.375/C535288 |C14.280.400.560.375/C535288 |C16.131.240.400.560.375/C535288 |C16.131.621.585/C535288 |C16.131.831.775/C535288 |C16.320.240/C535288 |C16.320.850.765/C535288 |C16.614.760/C535288 |C17.800.80

Synonyms:

Radial and patellar aplasia |Radial and patellar hypoplasia

Slim Mappings:

Reference:

MedGen: C535288
MeSH: C535288
OMIM: 266280;

Genes: RECQL4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0009777	Absent thumb
3	HP:0006498	Aplasia/Hypoplasia of the patella
4	HP:0006501	Aplasia/Hypoplasia of the radius
5	HP:0000581	Blepharophimosis
6	HP:0000175	Cleft palate
7	HP:0002014	Diarrhea
8	HP:0000365	Hearing impairment
9	HP:0000218	High palate
10	HP:0002705	High, narrow palate
11	HP:0001373	Joint dislocation
12	HP:0000276	Long face
13	HP:0001070	Mottled pigmentation
14	HP:0000331	Short chin
15	HP:0004322	Short stature
16	HP:0000417	Slender nose
17	HP:0005198	Stiff interphalangeal joints

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_004260.3(RECQL4):c.3599_3600delCG (p.Thr1200Argfs)	9401	RECQL4	Likely pathogenic	386833854	RCV000049823;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145736841	145736842	NM_004260.3:c.3599_3600delCG	NP_004251.3:p.Thr1200Argfs	NC_000008.10:g.145736841_145736842delCG	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.3271C>T (p.Gln1091Ter)	9401	RECQL4	Likely pathogenic	137853230	RCV000049822;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145737416	145737416	NM_004260.3:c.3271C>T	NP_004251.3:p.Gln1091Ter	NC_000008.10:g.145737416G>A	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.3214A>T (p.Arg1072Ter)	9401	RECQL4	Likely pathogenic	386833853	RCV000049821;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145737549	145737549	NM_004260.3:c.3214A>T	NP_004251.3:p.Arg1072Ter	NC_000008.10:g.145737549T>A	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.3072delA (p.Val1026Cysfs)	9401	RECQL4	Likely pathogenic	386833852	RCV000049820;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145737691	145737691	NM_004260.3:c.3072delA	NP_004251.3:p.Val1026Cysfs	NC_000008.10:g.145737691delT	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.2476C>T (p.Arg826Ter)	9401	RECQL4	Likely pathogenic;Pathogenic	386833851	RCV000174890; RCV000049819; RCV000080890;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006; MedGen:C1849453,OMIM:266280,ORPHA:3021; MedGen:CN221809	8	145738509	145738509	NM_004260.3:c.2476C>T	NP_004251.3:p.Arg826Ter	NC_000008.10:g.145738509G>A	HGMD:CM033809	CN221809 not provided; C1849453 266280 Rapadilino syndrome; C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.2091T>G (p.Phe697Leu)	9401	RECQL4	Likely pathogenic	386833850	RCV000049818;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145739064	145739064	NM_004260.3:c.2091T>G	NP_004251.3:p.Phe697Leu	NC_000008.10:g.145739064A>C	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.2059-1G>A	9401	RECQL4	Likely pathogenic	386833849	RCV000049817;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145739097	145739097	NM_004260.3:c.2059-1G>A		NC_000008.10:g.145739097C>A,NC_000008.10:g.145739097C>G,NC_000008.10:g.145739097	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.1910T>C (p.Phe637Ser)	9401	RECQL4	Likely pathogenic	386833848	RCV000049816;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145739460	145739460	NM_004260.3:c.1910T>C	NP_004251.3:p.Phe637Ser	NC_000008.10:g.145739460A>G	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.1887_1890delGGAG (p.Glu630Alafs)	9401	RECQL4	Likely pathogenic	386833847	RCV000049815;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145739480	145739483	NM_004260.3:c.1887_1890delGGAG	NP_004251.3:p.Glu630Alafs	NC_000008.10:g.145739480_145739483delCTCC	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.1885_1888delCGGG (p.Arg629Serfs)	9401	RECQL4	Likely pathogenic	386833846	RCV000049814;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145739482	145739485	NM_004260.3:c.1885_1888delCGGG	NP_004251.3:p.Arg629Serfs	NC_000008.10:g.145739482_145739485delCCCG	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.1573delT (p.Cys525Alafs)	9401	RECQL4	Likely pathogenic;Pathogenic	386833845	RCV000006438; RCV000049813; RCV000169785;	N	MedGen:C0032339,OMIM:268400,ORPHA:2909,SNOMED CT:69093006; MedGen:C0265308,OMIM:218600,ORPHA:1225,SNOMED CT:77608001; MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145740367	145740367	NM_004260.3:c.1573delT	NP_004251.3:p.Cys525Alafs	NC_000008.10:g.145740367delA	OMIM Allelic Variant:603780.0005	C0265308 218600 Baller-Gerold syndrome; C1849453 266280 Rapadilino syndrome; C0032339 268400 Rothmund-Thomson syndrome
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu)	9401	RECQL4	Likely pathogenic	386833844	RCV000049812;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145740620	145740620	NM_004260.3:c.1397C>T	NP_004251.3:p.Pro466Leu	NC_000008.10:g.145740620G>A	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.1390+2delT	9401	RECQL4	Pathogenic	386833843	RCV000049811;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145740708	145740708	NM_004260.3:c.1390+2delT		NC_000008.10:g.145740708delA	-	C1849453 266280 Rapadilino syndrome
NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter)	9401	RECQL4	Pathogenic	137853231	RCV000006444;	N	MedGen:C1849453,OMIM:266280,ORPHA:3021	8	145741697	145741697	NM_004260.3:c.806G>A	NP_004251.3:p.Trp269Ter	NC_000008.10:g.145741697C>T	OMIM Allelic Variant:603780.0011	C1849453 266280 Rapadilino syndrome