MCID: DBS003
MIFTS: 15

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 57 29 73
Hyperdibasic Aminoaciduria Type 1 59
Dibasic Aminoaciduria 1 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
dibasic amino aciduria i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 222690
Orphanet 59 ORPHA1032
UMLS via Orphanet 74 C2673736
ICD10 via Orphanet 34 E72.0
MedGen 42 C2673736
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
mental retardation

G I:
intestinal malabsorption

Lab:
lysinuria
dibasicaminoaciduria
ornithinuria
argininuria

Misc:
adverse reaction to phenothiazines


Clinical features from OMIM:

222690

Human phenotypes related to Dibasic Amino Aciduria I:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 malabsorption 32 HP:0002024
3 dibasicaminoaciduria 32 HP:0003168
4 ornithinuria 32 HP:0003532
5 argininuria 32 HP:0003268
6 hyperlysinuria 32 HP:0003297

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 29

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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