Hypotonia-Cystinuria Syndrome

Also Known As:

Cystinuria with Mitochondrial Disease; Homozygous 2p21 Deletion Syndrome

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Chromosome Aberrations: 11361
    - Aneuploidy: 8932
      - Monosomy: 435
        Chromosome Deletion: 104
        Hypotonia-Cystinuria Syndrome: 6
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Hypotonia-Cystinuria Syndrome: 6
    - Neuromuscular Manifestations: 23
      - Muscle Hypotonia: 1437
        Hypotonia-Cystinuria Syndrome: 6
Genetic Phenomena
Cells
- Cellular Structures
  - Chromosomes
    - Mammalian Chromosomes
      - Human Chromosomes
        21-22 and Y Human Chromosomes
        Pair 21 Human Chromosomes
        Hypotonia-Cystinuria Syndrome: 6
Urogenital Diseases: 126
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Hypotonia-Cystinuria Syndrome: 6
- Inborn Genetic Diseases: 11939
  - Inborn Errors Renal Tubular Transport
    - Renal Aminoacidurias: 6
      - Cystinuria: 736
        Hypotonia-Cystinuria Syndrome: 6
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Hypotonia-Cystinuria Syndrome: 6
  - Neuromuscular Manifestations: 23
    - Muscle Hypotonia: 1437
      - Hypotonia-Cystinuria Syndrome: 6
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Hypotonia-Cystinuria Syndrome: 6
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Hypotonia-Cystinuria Syndrome: 6
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Hypotonia-Cystinuria Syndrome: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Mitochondrial Diseases: 21919
    - Hypotonia-Cystinuria Syndrome: 6

Related Diseases

1.	Muscle Hypotonia (Hypotonia)
2.	Rare Diseases (Rare Disease)

Experts

1.	Creemers, John W M: 3 articles (04/2014 - 01/2006)
2.	Meulemans, Sandra: 3 articles (04/2014 - 01/2006)
3.	Derua, Rita: 2 articles (07/2006 - 01/2006)
4.	Jaeken, Jaak: 2 articles (07/2006 - 01/2006)
5.	Martens, Kevin: 2 articles (07/2006 - 01/2006)
6.	Matthijs, Gert: 2 articles (07/2006 - 01/2006)
7.	Waelkens, Etienne: 2 articles (07/2006 - 01/2006)
8.	Berrettini, Alfredo: 1 article (01/2019)
9.	Capone, Valentina: 1 article (01/2019)
10.	De Marco, Erika Adalgisa: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypotonia-Cystinuria Syndrome:

1.	Prolyl OligopeptidasesIBA 01/01/2014 - "Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). " 07/01/2006 - "The prolyl endopeptidase-like protein PREPL has recently attracted attention because its gene is located within two contiguous gene-deletion syndromes, the 2p21 deletion syndrome and the hypotonia-cystinuria syndrome. "
2.	Growth Hormone (Somatotropin)IBA 08/01/2013 - "Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. "
3.	Serine (L-Serine)FDA Link 01/01/2006 - "Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome."
4.	Proteins (Proteins, Gene)FDA Link 07/01/2006 - "The prolyl endopeptidase-like protein PREPL has recently attracted attention because its gene is located within two contiguous gene-deletion syndromes, the 2p21 deletion syndrome and the hypotonia-cystinuria syndrome. "
5.	Peptide Hydrolases (Proteases)FDA Link 01/01/2014 - "Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). "
6.	Cystine (L-Cystine)IBA 01/01/2019 - "Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. "
7.	oligopeptidaseIBA 01/01/2006 - "Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome." 01/01/2006 - "Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome."

Therapies and Procedures

1.	Therapeutics 04/08/2014 - "To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy. "