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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Lung Diseases (D008171)
..Starting node ..Pulmonary Alveolar Microlithiasis (C562405)
Child Nodes:
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..Acute Chest Syndrome (D056586)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..alpha-2-Macroglobulin Deficiency (C566304)
..Anophthalmia with pulmonary hypoplasia (C537768)
..Cystic Adenomatoid Malformation of Lung, Congenital (D015615)
..Cystic Disease Of Lung (C563237)
..Cystic Fibrosis (D003550) 4
..Hemoptysis (D006469)
..Hepatopulmonary Syndrome (D020065)
..Hypertension, Pulmonary (D006976) 12
..Idiopathic pulmonary hemosiderosis (C536281)
..Kashani Strom Utley syndrome (C537010)
..Lung Abscess (D008169)
..Lung agenesis (C537725)
..Lung Diseases, Fungal (D008172) 5
..Lung Diseases, Interstitial (D017563) 39
..Lung Diseases, Obstructive (D008173) 34
..Lung Diseases, Parasitic (D008174) 1
..Lung Injury (D055370) 20
..Lung Neoplasms (D008175) 17
..Lung, Hyperlucent (D019568)
..Lymphangiectasia, pulmonary, congenital (C537727)
..Plasma Cell Granuloma, Pulmonary (D016726)
..Pneumonia (D011014) 16
..Pulmonary Alveolar Microlithiasis (C562405)
..Pulmonary Alveolar Proteinosis (D011649) 7
..Pulmonary Atelectasis (D001261) 1
..Pulmonary Edema (D011654) 1
..Pulmonary Embolism (D011655) 3
..Pulmonary Eosinophilia (D011657) 1
..Pulmonary Fibrosis (D011658) 2
..PULMONARY FUNCTION (OMIM:608852)
..Pulmonary Hypoplasia, Primary (C562992)
..Pulmonary Veno-Occlusive Disease (D011668)
..Rapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
..Respiratory Distress Syndrome, Adult (D012128)
..Respiratory Distress Syndrome, Newborn (D012127) 9
..Scimitar Syndrome (D012587) 1
..Solitary Pulmonary Nodule (D003074)
..Tetra-amelia with pulmonary hypoplasia (C536499)
..Tuberculosis, Pulmonary (D014397) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9470

Name:

Pulmonary Alveolar Microlithiasis

Definition:

Alternative IDs:

OMIM:265100

ParentIDs:

MESH:D002114|MESH:D008171|MESH:D030342

TreeNumbers:

C08.381/C562405 |C16.320/C562405 |C18.452.174.130/C562405

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Respiratory tract disease

Reference:

MedGen: C562405
MeSH: C562405
OMIM: 265100;

Genes: SLC34A2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003674	Onset
3	HP:0020034	Diffuse
4	HP:0006514	Intraalveolar nodular calcifications
5	HP:0002111	obsolete Restrictive deficit on pulmonary function testing
6	HP:0006520	Progressive pulmonary function impairment
7	HP:0003677	Slowly progressive

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_006424.2(SLC34A2):c.212_224delACCTACCCACTCT (p.Asn71Ilefs)	10568	SLC34A2	Pathogenic	796065044	RCV000190366;	N	MedGen:C0155912,OMIM:265100,ORPHA:60025,SNOMED CT:87153008	4	25664426	25664438	NM_006424.2:c.212_224delACCTACCCACTCT	NP_006415.2:p.Asn71Ilefs	NC_000004.11:g.25664426_25664438delACCTACCCACTCT	-	C0155912 265100 PULMONARY ALVEOLAR MICROLITHIASIS
NM_006424.2(SLC34A2):c.226C>T (p.Gln76Ter)	10568	SLC34A2	Pathogenic	137853141	RCV000006070;	N	MedGen:C0155912,OMIM:265100,ORPHA:60025,SNOMED CT:87153008	4	25664440	25664440	NM_006424.2:c.226C>T	NP_006415.2:p.Gln76Ter	NC_000004.11:g.25664440C>T	OMIM Allelic Variant:604217.0003	C0155912 265100 PULMONARY ALVEOLAR MICROLITHIASIS
NM_006424.2(SLC34A2):c.316G>C (p.Gly106Arg)	10568	SLC34A2	Pathogenic	137853142	RCV000006071;	N	MedGen:C0155912,OMIM:265100,ORPHA:60025,SNOMED CT:87153008	4	25665889	25665889	NM_006424.2:c.316G>C	NP_006415.2:p.Gly106Arg	NC_000004.11:g.25665889G>C	OMIM Allelic Variant:604217.0004	C0155912 265100 PULMONARY ALVEOLAR MICROLITHIASIS