LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA

General Information (adopted from Orphanet):

Synonyms, Signs: LACH
Number of Symptoms 36
OrphanetNr:
OMIM Id: 608809
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0000666) Horizontal nystagmus 32 / 7739
3
 (HPO:0002015) Dysphagia 301 / 7739
4
 (HPO:0001285) Spastic tetraparesis 29 / 7739
5
 (HPO:0011344) Severe global developmental delay 46 / 7739
6
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
7
 (HPO:0001369) Arthritis 44 / 7739
8
 (HPO:0002014) Diarrhea 225 / 7739
9
 (HPO:0002037) Inflammation of the large intestine 25 / 7739
10
 (HPO:0005231) Chronic gastritis 1 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0000964) Eczema 81 / 7739
13
 (HPO:0001875) Neutropenia 83 / 7739
14
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
15
 (HPO:0004315) IgG deficiency 38 / 7739
16
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
17
 (HPO:0002104) Apnea 106 / 7739
18
 (HPO:0002719) Recurrent infections 107 / 7739
19
 (HPO:0001324) Muscle weakness 859 / 7739
20
 (HPO:0010547) Muscle flaccidity 466 / 7739
21
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
 (HPO:0001252) Muscular hypotonia 990 / 7739
23
 (OMIM) Delayed development, severe 2 / 7739
24
 (HPO:0002352) Leukoencephalopathy 32 / 7739
25
 (OMIM) Friable duodenum 1 / 7739
26
 (HPO:0002119) Ventriculomegaly 253 / 7739
27
 (OMIM) Decreased B cells 2 / 7739
28
 (OMIM) Patchy diffuse hyperintensities on T2-weighted MRI 1 / 7739
29
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
 (OMIM) Diffuse erythematous maculopapular rash 1 / 7739
31
 (HPO:0006808) Cerebral hypomyelination 16 / 7739
32
 (OMIM) Seizures often associated with infections 1 / 7739
33
 (HPO:0003429) CNS hypomyelination 21 / 7739
34
 (HPO:0001417) X-linked inheritance 173 / 7739
35
 (OMIM) Diarrhea, malabsorptive, severe 2 / 7739
36
 (HPO:0007371) Corpus callosum atrophy 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: