MCID: RVN001
MIFTS: 13

Ravine Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Ravine Syndrome

MalaCards integrated aliases for Ravine Syndrome:

Name: Ravine Syndrome 58
Reunion Island-Anorexia-Vomiting Which is Irrepressible-Neurological Signs Syndrome 58
Progressive Encephalopathy with Severe Infantile Anorexia 58

Characteristics:

Orphanet epidemiological data:

58
ravine syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Ravine Syndrome

MalaCards based summary : Ravine Syndrome, is also known as reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome. An important gene associated with Ravine Syndrome is SLC7A2-IT1 (SLC7A2 Intronic Transcript 1). Affiliated tissues include eye, and related phenotypes are failure to thrive and anorexia

Related Diseases for Ravine Syndrome

Symptoms & Phenotypes for Ravine Syndrome

Human phenotypes related to Ravine Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 obligate (100%) Obligate (100%) HP:0001508
2 anorexia 58 31 obligate (100%) Obligate (100%) HP:0002039
3 progressive encephalopathy 58 31 obligate (100%) Obligate (100%) HP:0002448
4 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
6 atrophy/degeneration affecting the brainstem 58 31 hallmark (90%) Very frequent (99-80%) HP:0007366
7 abnormality of the basal ganglia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002134
8 abnormality of the posterior cranial fossa 58 31 hallmark (90%) Very frequent (99-80%) HP:0000932
9 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
10 abnormal auditory evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0006958
11 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
12 abnormality of the larynx 58 31 occasional (7.5%) Occasional (29-5%) HP:0001600
13 decreased body weight 58 Obligate (100%)
14 abnormality of brainstem morphology 58 Very frequent (99-80%)

Drugs & Therapeutics for Ravine Syndrome

Search Clinical Trials , NIH Clinical Center for Ravine Syndrome

Genetic Tests for Ravine Syndrome

Anatomical Context for Ravine Syndrome

MalaCards organs/tissues related to Ravine Syndrome:

40
Eye

Publications for Ravine Syndrome

Variations for Ravine Syndrome

Expression for Ravine Syndrome

Search GEO for disease gene expression data for Ravine Syndrome.

Pathways for Ravine Syndrome

GO Terms for Ravine Syndrome

Sources for Ravine Syndrome

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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