Aliases & Classifications for Diaminopentanuria

MalaCards integrated aliases for Diaminopentanuria:

Name: Diaminopentanuria 57 72
Cystine-Lysinuria 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
diaminopentanuria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 222350
MedGen 42 C1857285
UMLS 72 C1857285

Summaries for Diaminopentanuria

MalaCards based summary : Diaminopentanuria, also known as cystine-lysinuria, is related to cystinuria and cystinosis, and has symptoms including ataxia and muscle spasticity. Related phenotypes are seizures and ataxia

More information from OMIM: 222350

Related Diseases for Diaminopentanuria

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

# Related Disease Score Top Affiliating Genes
1 cystinuria 10.3
2 cystinosis 10.3
3 aminoaciduria 10.3

Symptoms & Phenotypes for Diaminopentanuria

Human phenotypes related to Diaminopentanuria:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 neurodegeneration 32 HP:0002180
5 cystinuria 32 HP:0003131
6 hyperlysinuria 32 HP:0003297

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
ataxia
spasticity
neuro-degenerative disease
progressive cortical degeneration

Lab:
cystinuria
lysinuria
1,5-diaminopentanuria

Clinical features from OMIM:

222350

UMLS symptoms related to Diaminopentanuria:


ataxia, muscle spasticity

Drugs & Therapeutics for Diaminopentanuria

Search Clinical Trials , NIH Clinical Center for Diaminopentanuria

Genetic Tests for Diaminopentanuria

Anatomical Context for Diaminopentanuria

Publications for Diaminopentanuria

Articles related to Diaminopentanuria:

# Title Authors PMID Year
1
Diagnostic and genetic studies in 43 patients with classic cystinuria. 38
1899064 1991
2
Paper chromatography of urinary amino acids. A 30 year survey of dietary influences on the normal pattern, and patients' results. 38
3506825 1986
3
Ammonia metabolism in a family affected by hyperargininemia. 38
7238975 1981
4
Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria. 38
990372 1976
5
[Disturbance of the Histidine Reabsorption of the Renal Tubes in Patient with Cystine Lysinuria in Conjunction with Severe Cerebral Damage (author's transl)]. 38
1124211 1975
6
CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA. 38
14158474 1964
7
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria. 38
13213438 1954

Variations for Diaminopentanuria

Expression for Diaminopentanuria

Search GEO for disease gene expression data for Diaminopentanuria.

Pathways for Diaminopentanuria

GO Terms for Diaminopentanuria

Sources for Diaminopentanuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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