Aliases & Classifications for Diaminopentanuria

MalaCards integrated aliases for Diaminopentanuria:

Name: Diaminopentanuria 56 71
Cystine-Lysinuria 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
diaminopentanuria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 222350
MedGen 41 C1857285
UMLS 71 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 spasticity

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 spasticity 31 HP:0001257
3 ataxia 31 HP:0001251
4 neurodegeneration 31 HP:0002180
5 cystinuria 31 HP:0003131
6 hyperlysinuria 31 HP:0003297

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
spasticity
ataxia
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. 61
1899064 1991
2
Paper chromatography of urinary amino acids. A 30 year survey of dietary influences on the normal pattern, and patients' results. 61
3506825 1986
3
Ammonia metabolism in a family affected by hyperargininemia. 61
7238975 1981
4
Intravenous loading with arginine-hydrochloride and ornithine-aspartate in siblings of two families, presenting a familial neurological syndrome associated with cystinuria. 61
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)]. 61
1124211 1975
6
CYSTINURIA IN SWEDEN. VIII. A CASE OF COELIAC DISEASE ASSOCIATED WITH CYSTINE-LYSINURIA. 61
14158474 1964
7
The diagnosis of aminoaciduria in childhood: cystine storage disease and cystine-lysinuria. 61
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 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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