MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Chromosome Breakage (D019457)
Parent Node:
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Immunologic Deficiency Syndromes (D007153)
Parent Node:
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Lung Diseases (D008171)
..Starting node
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LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)

       Child Nodes:



 Sister Nodes: 
..expand46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..expandAcute Chest Syndrome (D056586)
..expandalpha 1-Antitrypsin Deficiency (D019896) Child1
..expandalpha-2-Macroglobulin Deficiency (C566304)
..expandAnophthalmia with pulmonary hypoplasia (C537768)
..expandCHOPS SYNDROME (OMIM:616368)
..expandCystic Adenomatoid Malformation of Lung, Congenital (D015615)
..expandCystic Disease Of Lung (C563237)
..expandCystic Fibrosis (D003550) Child4
..expandHemoptysis (D006469)
..expandHepatopulmonary Syndrome (D020065)
..expandHypertension, Pulmonary (D006976) Child12
..expandIdiopathic pulmonary hemosiderosis (C536281)
..expandKashani Strom Utley syndrome (C537010)
..expandLung Abscess (D008169)
..expandLung agenesis (C562992)
..expandLUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
..expandLung Diseases, Fungal (D008172) Child5
..expandLung Diseases, Interstitial (D017563) Child39
..expandLung Diseases, Obstructive (D008173) Child34
..expandLung Diseases, Parasitic (D008174) Child1
..expandLung Injury (D055370) Child20
..expandLung Neoplasms (D008175) Child17
..expandLung, Hyperlucent (D019568)
..expandLymphangiectasia, pulmonary, congenital (C537727)
..expandPlasma Cell Granuloma, Pulmonary (D016726)
..expandPneumonia (D011014) Child16
..expandPulmonary Alveolar Microlithiasis (C562405)
..expandPulmonary Alveolar Proteinosis (D011649) Child7
..expandPulmonary Atelectasis (D001261) Child1
..expandPulmonary Edema (D011654) Child1
..expandPulmonary Embolism (D011655) Child3
..expandPulmonary Eosinophilia (D011657) Child1
..expandPulmonary Fibrosis (D011658) Child2
..expandPULMONARY FUNCTION (OMIM:608852)
..expandPulmonary Veno-Occlusive Disease (D011668)
..expandRapidly progressive glomerulonephritis with pulmonary hemorrhage (C538458)
..expandRespiratory Distress Syndrome, Adult (D012128)
..expandRespiratory Distress Syndrome, Newborn (D012127) Child9
..expandScimitar Syndrome (D012587) Child1
..expandSolitary Pulmonary Nodule (D003074)
..expandTetra-amelia with pulmonary hypoplasia (C536499)
..expandTuberculosis, Pulmonary (D014397) Child1
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7187
Name:LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:D007153|MESH:D008171|MESH:D019457
TreeNumbers:C08.381/617241 |C20.673/617241 |C23.550.210.170/617241
Synonyms:LICS
Slim Mappings:Immune system disease|Pathology (process)|Respiratory tract disease
Reference: MedGen: 617241
MeSH: 617241
OMIM: 617241;
MSeqDR LSDB:  
Genes: WDR62;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shapeHP:0040283
3 HP:0000777Abnormality of the thymus
4 HP:0011946Bronchiolitis obliterans
5 HP:0000964Eczema
6 HP:0002097Emphysema
7 HP:0001508Failure to thrive
8 HP:0011968Feeding difficulties
9 HP:0011342Mild global developmental delay
10 HP:0008936Muscular hypotonia of the trunk
11 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)56160NSMCE3Pathogenicrs199905054RCV000258542|RCV000412499; NMedGen:CN239026|MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241152956112029561120GA15:g.29561120G>AClinGen:CA7446059,OMIM:608243.0001
NM_138704.4(NSMCE3):c.626C>T (p.Pro209Leu)56160NSMCE3Pathogenicrs886037827RCV000258643|RCV000412556; NMedGen:CN239026|MONDO:MONDO:0014984,MedGen:C4310653,OMIM:617241152956128429561284GA15:g.29561284G>AClinGen:CA10602639,OMIM:608243.0002
MSeqDR Portal