KETOADIPICACIDURIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 245130
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 65 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001250) Seizures 1245 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0100759) Clubbing of fingers 40 / 7739
7
 (HPO:0001552) Barrel-shaped chest 31 / 7739
8
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
9
 (HPO:0007514) Edema of the dorsum of hands 7 / 7739
10
 (HPO:0012098) Edema of the dorsum of feet 3 / 7739
11
 (HPO:0001324) Muscle weakness 859 / 7739
12
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (OMIM) Alpha-ketoadipicaciduria 1 / 7739
16
 (OMIM) Neonatal collodion skin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: