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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

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: Lacrimal Apparatus Diseases (D007766)
Parent Node: Salivary Gland Diseases (D012466)
..Starting node ..Aplasia of Lacrimal and Salivary Glands (C562407)
Child Nodes:
Sister Nodes:
..Aplasia of Lacrimal and Salivary Glands (C562407)
..Mikulicz' Disease (D008882)
..Parotid Diseases (D010305) 7
..Parotid Salivary Glands, Polycystic Disease of (C563951)
..Salivary Calculi (D020792) 2
..Salivary Gland Fistula (D012467)
..Salivary Gland Neoplasms (D012468) 6
..Sialadenitis (D012793) 6
..Sialometaplasia, Necrotizing (D012797)
..Sialorrhea (D012798)
..Submandibular Gland Diseases (D013364) 1
..Tunglang Savage Bellman syndrome (C536927)
..Xerostomia (D014987) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

822

Name:

Aplasia of Lacrimal and Salivary Glands

Definition:

Alternative IDs:

OMIM:180920

ParentIDs:

MESH:D007766|MESH:D012466

TreeNumbers:

C07.465.815/C562407 |C11.496/C562407

Synonyms:

ALSG |PAROTID APLASIA OR HYPOPLASIA, INCLUDED |Salivary Glands, Absence of |SALIVARY GLANDS, ABSENCE OF, INCLUDE, INCLUDED

Slim Mappings:

Eye disease|Mouth disease

Reference:

MedGen: C562407
MeSH: C562407
OMIM: 180920;

Genes: FGF10;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001092	Absent lacrimal punctum
3	HP:0000670	Carious teeth
4	HP:0007656	Lacrimal gland aplasia
5	HP:0007732	Lacrimal gland hypoplasia
6	HP:0000217	Xerostomia

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_004465.1(FGF10):c.577C>T (p.Arg193Ter)	2255	FGF10	Pathogenic	104893884	RCV000007964;	N	MedGen:C0158667,OMIM:180920,ORPHA:86815,SNOMED CT:22589009	5	44305147	44305147	NM_004465.1:c.577C>T	NP_004456.1:p.Arg193Ter	NC_000005.9:g.44305147G>A	OMIM Allelic Variant:602115.0001	C0158667 180920 Congenital absence of salivary gland
NM_004465.1(FGF10):c.413G>A (p.Gly138Glu)	2255	FGF10	Pathogenic	104893889	RCV000007971;	N	MedGen:C0158667,OMIM:180920,ORPHA:86815,SNOMED CT:22589009	5	44310545	44310545	NM_004465.1:c.413G>A	NP_004456.1:p.Gly138Glu	NC_000005.9:g.44310545C>T	OMIM Allelic Variant:602115.0007	C0158667 180920 Congenital absence of salivary gland
NM_004465.1(FGF10):c.409A>T (p.Lys137Ter)	2255	FGF10	Pathogenic	104893887	RCV000007968; RCV000007969;	N	MedGen:C0158667,OMIM:180920,ORPHA:86815,SNOMED CT:22589009; MedGen:C0265269,OMIM:149730,ORPHA:2363,SNOMED CT:23817003	5	44310549	44310549	NM_004465.1:c.409A>T	NP_004456.1:p.Lys137Ter	NC_000005.9:g.44310549T>A	OMIM Allelic Variant:602115.0005	C0158667 180920 Congenital absence of salivary gland; C0265269 149730 Levy-Hollister syndrome
NM_004465.1(FGF10):c.240A>C (p.Arg80Ser)	2255	FGF10	Pathogenic	104893888	RCV000007970;	N	MedGen:C0158667,OMIM:180920,ORPHA:86815,SNOMED CT:22589009	5	44388545	44388545	NM_004465.1:c.240A>C	NP_004456.1:p.Arg80Ser	NC_000005.9:g.44388545T>G	OMIM Allelic Variant:602115.0006	C0158667 180920 Congenital absence of salivary gland