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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAgammaglobulinemia (D000361)
Parent Node:
expandArthritis (D001168)
Parent Node:
expandColitis (D003092)
Parent Node:
expandLeukoencephalopathies (D056784)
..Starting node
..expandLeukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)

       Child Nodes:



 Sister Nodes: 
..expandAtaxia, Spastic, 3, Autosomal Recessive (C566956)
..expandBrain Small Vessel Disease with Hemorrhage (C564372)
..expandCerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandDementia, Vascular (D015140) Child3
..expandDemyelinating Autoimmune Diseases, CNS (D020278) Child15
..expandGliosis, Familial Progressive Subcortical (C565634)
..expandHereditary Central Nervous System Demyelinating Diseases (D020279) Child29
..expandHereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..expandLeukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandLeukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..expandLeukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..expandLeukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..expandLeukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..expandLeukoencephalopathy, Progressive Multifocal (D007968)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandPosterior Leukoencephalopathy Syndrome (D054038)
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandTelencephalic leukoencephalopathy (C536954)
..expandVanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6391
Name:Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema
Definition:
Alternative IDs:
ParentIDs:MESH:D000361|MESH:D001168|MESH:D003092|MESH:D056784
TreeNumbers:C05.550.114/C563852 |C06.405.205.265/C563852 |C06.405.469.158.188/C563852 |C10.228.140.695/C563852 |C15.378.147.142/C563852 |C15.604.515.032/C563852 |C20.673.088/C563852
Synonyms:
Slim Mappings:Blood disease|Digestive system disease|Immune system disease|Lymphatic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C563852
MeSH: C563852
OMIM: 608809;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001417X-linked inheritance
3 HP:0002104Apnea
4 HP:0001369Arthritis
5 HP:0002069Bilateral tonic-clonic seizure
6 HP:0006808Cerebral hypomyelination
7 HP:0005231Chronic gastritis
8 HP:0003429CNS hypomyelination
9 HP:0002583Colitis
10 HP:0007371Corpus callosum atrophy
11 HP:0004315Decreased circulating IgG level
12 HP:0002014Diarrhea
13 HP:0002015Dysphagia
14 HP:0000964Eczema
15 HP:0003565Elevated erythrocyte sedimentation rate
16 HP:0001508Failure to thrive
17 HP:0001290Generalized hypotonia
18 HP:0000666Horizontal nystagmus
19 HP:0001252Hypotonia
20 HP:0002352Leukoencephalopathy
21 HP:0001875Neutropenia
22 HP:0002719Recurrent infections
23 HP:0005484Secondary microcephaly
24 HP:0011344Severe global developmental delay
25 HP:0001285Spastic tetraparesis
26 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants