MCID: CRN042
MIFTS: 21

Carnosinemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Carnosinemia

MalaCards integrated aliases for Carnosinemia:

Name: Carnosinemia 58 77 54 13 74
Carnosinase Deficiency 58 77 54 60
Homocarnosinase Deficiency 74

Characteristics:

Orphanet epidemiological data:

60
carnosinase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy; Age of death: early childhood,late childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
carnosinemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 212200
ICD10 via Orphanet 35 E70.8
UMLS via Orphanet 75 C0268632 C3495554 C3495555
Orphanet 60 ORPHA1361
MedGen 43 C3495555

Summaries for Carnosinemia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1361Disease definitionCarnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.EpidemiologyAbout 30 individuals have been reported worldwide.EtiologyThe gene associated with this disease has not been identified. The majority of the patients showed variable degrees of intellectual deficit. Some patients had seizures and one had congenital myopathy. A few patients had no symptoms at all.Diagnostic methodsDiagnosis is based on amino acid analysis of serum and/or urine after exclusion of meat from the diet, and enzymatic testing.Differential diagnosisThe differential diagnosis includes gamma-amino butyric acid (GABA) transaminase deficiency.Genetic counselingAutosomal recessive inheritance has been suggested.Management and treatmentNo efficient treatment is available, and it remains uncertain whether treatment is necessary.Visit the Orphanet disease page for more resources.

MalaCards based summary : Carnosinemia, also known as carnosinase deficiency, is related to diabetes mellitus. An important gene associated with Carnosinemia is CNSN (Carnosinemia (Carnosinase)). Related phenotypes are intellectual disability and eeg abnormality

Wikipedia : 77 Carnosinemia, also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency, is a... more...

Description from OMIM: 212200

Related Diseases for Carnosinemia

Diseases related to Carnosinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diabetes mellitus 10.0

Symptoms & Phenotypes for Carnosinemia

Human phenotypes related to Carnosinemia:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
3 developmental regression 60 33 hallmark (90%) Very frequent (99-80%) HP:0002376
4 generalized myoclonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0002123
5 carnosinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003167

Symptoms via clinical synopsis from OMIM:

58
Lab:
carnosinuria
carosinase deficiency
carnosinemia

Neuro:
mental retardation
myoclonic seizures

Clinical features from OMIM:

212200

Drugs & Therapeutics for Carnosinemia

Search Clinical Trials , NIH Clinical Center for Carnosinemia

Genetic Tests for Carnosinemia

Anatomical Context for Carnosinemia

Publications for Carnosinemia

Articles related to Carnosinemia:

(show all 11)
# Title Authors Year
1
Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency. ( 29027595 )
2018
2
Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans. ( 22496410 )
2012
3
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. ( 9029640 )
1997
4
Serum carnosinase deficiency: a non-disabling phenotype? ( 4093964 )
1985
5
Neurological disease in a child with carnosinase deficiency. ( 7266778 )
1981
6
Carnosinase deficiency: a new variant with high residual activity. ( 7375183 )
1980
7
Plasma carnosinase deficiency in patients with urea cycle defects. ( 1132153 )
1975
8
Serum carnosinase deficiency concomitant with mental retardation. ( 4718759 )
1973
9
Serum-carnosinase deficiency in carnosinaemia. ( 4172777 )
1968
10
Carnosinemia. A new metabolic disorder associated with neurologic disease and mental defect. ( 6058610 )
1967
11
Carnosinemia, seizures and psychomotor retardation. ( 6058614 )
1967

Variations for Carnosinemia

Expression for Carnosinemia

Search GEO for disease gene expression data for Carnosinemia.

Pathways for Carnosinemia

GO Terms for Carnosinemia

Sources for Carnosinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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