MCID: DBS003
MIFTS: 14

Dibasic Amino Aciduria I

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Dibasic Amino Aciduria I

MalaCards integrated aliases for Dibasic Amino Aciduria I:

Name: Dibasic Amino Aciduria I 58 30 74
Hyperdibasic Aminoaciduria Type 1 60
Dibasic Aminoaciduria 1 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dibasic amino aciduria i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 222690
ICD10 via Orphanet 35 E72.0
UMLS via Orphanet 75 C2673736
Orphanet 60 ORPHA1032
MedGen 43 C2673736
UMLS 74 C2673736

Summaries for Dibasic Amino Aciduria I

MalaCards based summary : Dibasic Amino Aciduria I, also known as hyperdibasic aminoaciduria type 1, is related to lysinuric protein intolerance. Related phenotypes are intellectual disability and malabsorption

Description from OMIM: 222690

Related Diseases for Dibasic Amino Aciduria I

Diseases related to Dibasic Amino Aciduria I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lysinuric protein intolerance 11.5

Symptoms & Phenotypes for Dibasic Amino Aciduria I

Human phenotypes related to Dibasic Amino Aciduria I:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 malabsorption 33 HP:0002024
3 dibasicaminoaciduria 33 HP:0003168
4 ornithinuria 33 HP:0003532
5 argininuria 33 HP:0003268
6 hyperlysinuria 33 HP:0003297

Symptoms via clinical synopsis from OMIM:

58
Neuro:
mental retardation

G I:
intestinal malabsorption

Lab:
lysinuria
dibasicaminoaciduria
ornithinuria
argininuria

Misc:
adverse reaction to phenothiazines

Clinical features from OMIM:

222690

Drugs & Therapeutics for Dibasic Amino Aciduria I

Search Clinical Trials , NIH Clinical Center for Dibasic Amino Aciduria I

Genetic Tests for Dibasic Amino Aciduria I

Genetic tests related to Dibasic Amino Aciduria I:

# Genetic test Affiliating Genes
1 Dibasic Amino Aciduria I 30

Anatomical Context for Dibasic Amino Aciduria I

Publications for Dibasic Amino Aciduria I

Variations for Dibasic Amino Aciduria I

Expression for Dibasic Amino Aciduria I

Search GEO for disease gene expression data for Dibasic Amino Aciduria I.

Pathways for Dibasic Amino Aciduria I

GO Terms for Dibasic Amino Aciduria I

Sources for Dibasic Amino Aciduria I

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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