MCID: DBS003
MIFTS: 13

Dibasic Amino Aciduria I

Categories: Rare diseases

Aliases & Classifications for Dibasic Amino Aciduria I

MalaCards integrated aliases for Dibasic Amino Aciduria I:

Name: Dibasic Amino Aciduria I 56 29 71
Dibasic Aminoaciduria 1 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
dibasic amino aciduria i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 222690
MedGen 41 C2673736
UMLS 71 C2673736

Summaries for Dibasic Amino Aciduria I

MalaCards based summary : Dibasic Amino Aciduria I, also known as dibasic aminoaciduria 1, is related to lysinuric protein intolerance. Affiliated tissues include testes, and related phenotypes are intellectual disability and malabsorption

More information 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 11.6

Symptoms & Phenotypes for Dibasic Amino Aciduria I

Human phenotypes related to Dibasic Amino Aciduria I:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 malabsorption 31 HP:0002024
3 argininuria 31 HP:0003268
4 hyperlysinuria 31 HP:0003297
5 ornithinuria 31 HP:0003532
6 dibasicaminoaciduria 31 HP:0003168

Symptoms via clinical synopsis from OMIM:

56
Lab:
argininuria
ornithinuria
dibasicaminoaciduria
lysinuria

G I:
intestinal malabsorption

Neuro:
mental retardation

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 29

Anatomical Context for Dibasic Amino Aciduria I

MalaCards organs/tissues related to Dibasic Amino Aciduria I:

40
Testes

Publications for Dibasic Amino Aciduria I

Articles related to Dibasic Amino Aciduria I:

# Title Authors PMID Year
1
Hyperdibasicaminoaciduria in a mentally retarded homozygote with a peculiar response to phenothiazines. 56
4144453 1973
2
Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport. 56
5727921 1968
3
Aminoaciduria in handicapped children: a study using ion-exchange chromatography as a screening test. 61
6165874 1981

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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