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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: Chromosome Aberrations (D002869)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Diseases (C)
Parent Node: Immunodeficiency syndrome, variable (C537362)
..Starting node ..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Child Nodes:
Sister Nodes:
..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5736

Name:

IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1

Definition:

Alternative IDs:

ParentIDs:

MESH:C537362|MESH:D002869|MESH:D019465

TreeNumbers:

C05.660.207/242860 |C16.131.621.207/242860 |C20.673/C537362/242860 |C23.550.210/242860

Synonyms:

CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME |CIID |ICF1 |IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16 |IMMUNODEFICIENCY SYNDROME, VARIABLE

Slim Mappings:

Congenital abnormality|Immune system disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: 242860
MeSH: 242860
OMIM: 242860;

Genes: DNMT3B;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0002110	Bronchiectasis
4	HP:0004469	Chronic bronchitis
5	HP:0004313	Decreased circulating antibody level
6	HP:0005280	Depressed nasal bridge
7	HP:0002014	Diarrhea
8	HP:0000286	Epicanthus
9	HP:0001508	Failure to thrive
10	HP:0012368	Flat face
11	HP:0000316	Hypertelorism
12	HP:0002721	Immunodeficiency
13	HP:0001249	Intellectual disability
14	HP:0000369	Low-set ears
15	HP:0000158	Macroglossia
16	HP:0002024	Malabsorption
17	HP:0000272	Malar flattening
18	HP:0000347	Micrognathia
19	HP:0002090	Pneumonia
20	HP:0010808	Protruding tongue
21	HP:0003196	Short nose
22	HP:0004322	Short stature
23	HP:0000246	Sinusitis
24	HP:0005403	T lymphocytopenia

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_006892.3(DNMT3B):c.88C>T (p.Gln30Ter)	1789	DNMT3B	Pathogenic	121908945	RCV000007135;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31368217	31368217	NM_006892.3:c.88C>T	NP_008823.1:p.Gln30Ter	NC_000020.10:g.31368217C>T	OMIM Allelic Variant:602900.0011	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.808T>C (p.Ser270Pro)	1789	DNMT3B	Pathogenic	121908947	RCV000007137;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31376813	31376813	NM_006892.3:c.808T>C	NP_008823.1:p.Ser270Pro	NC_000020.10:g.31376813T>C	OMIM Allelic Variant:602900.0013	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.1807G>A (p.Ala603Thr)	1789	DNMT3B	Pathogenic	121908943	RCV000007132;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31388006	31388006	NM_006892.3:c.1807G>A	NP_008823.1:p.Ala603Thr	NC_000020.10:g.31388006G>A	OMIM Allelic Variant:602900.0008	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.1987G>A (p.Gly663Ser)	1789	DNMT3B	Pathogenic	121908942	RCV000007128;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31388722	31388722	NM_006892.3:c.1987G>A	NP_008823.1:p.Gly663Ser	NC_000020.10:g.31388722G>A	OMIM Allelic Variant:602900.0004	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.2237T>G (p.Val746Gly)	1789	DNMT3B	Pathogenic	121908944	RCV000007134;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31393149	31393149	NM_006892.3:c.2237T>G	NP_008823.1:p.Val746Gly	NC_000020.10:g.31393149T>G	OMIM Allelic Variant:602900.0010	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_175850.2(DNMT3B):c.2397-11G>A	1789	DNMT3B	Pathogenic	547940069	RCV000007133;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31395557	31395557	NM_175850.2:c.2397-11G>A		NC_000020.10:g.31395557G>A	OMIM Allelic Variant:602900.0009	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.2450A>G (p.Asp817Gly)	1789	DNMT3B	Pathogenic	121908939	RCV000007125;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31395597	31395597	NM_006892.3:c.2450A>G	NP_008823.1:p.Asp817Gly	NC_000020.10:g.31395597A>G	OMIM Allelic Variant:602900.0001	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.2452G>A (p.Val818Met)	1789	DNMT3B	Pathogenic	121908940	RCV000007126;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31395599	31395599	NM_006892.3:c.2452G>A	NP_008823.1:p.Val818Met	NC_000020.10:g.31395599G>A	OMIM Allelic Variant:602900.0002	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
NM_006892.3(DNMT3B):c.2519G>A (p.Arg840Gln)	1789	DNMT3B	Pathogenic	121908946	RCV000007136;	N	MedGen:C0398788,OMIM:242860,SNOMED CT:234633000	20	31395666	31395666	NM_006892.3:c.2519G>A	NP_008823.1:p.Arg840Gln	NC_000020.10:g.31395666G>A	OMIM Allelic Variant:602900.0012	C0398788 242860 Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency