Homocarnosinosis

General Information (adopted from Orphanet):

Synonyms, Signs: homocarnosinase deficiency
Number of Symptoms 10
OrphanetNr: 2168
OMIM Id: 236130
ICD-10: E72.8
UMLs: C0268632
MeSH: C535328
MedDRA:
Snomed: 274616003
61764000

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of peptide metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0003167) Carnosinuria 3736769 IBIS 3 / 7739
2
(HPO:0007703) Abnormality of retinal pigmentation 21 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0001258) Spastic paraplegia 97 / 7739
5
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
6
(OMIM) Brain homocarnosinase deficiency 1 / 7739
7
(MedDRA:10038894) Retinal pigmentation 4 / 7739
8
(OMIM) Serum carnosinase deficiency 1 / 7739
9
(OMIM) Elevated homocarnosine 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sjaastad et al. (1976) found levels of homocarnosine, a brain-specific dipeptide of gamma-aminobutyric acid (GABA) and histidine, elevated to about 20 times normal in 2 brothers and a sister. All 3 had progressive spastic paraplegia, mental retardation and ...