MCID: RCS010
MIFTS: 8

Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

MalaCards integrated aliases for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome:

Name: Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome 59
Spastic Paraplegia 18, Autosomal Recessive 73
Idmdc 59

Characteristics:

Orphanet epidemiological data:

59
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA280384
UMLS 73 C2749936

Summaries for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

MalaCards based summary : Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome, also known as spastic paraplegia 18, autosomal recessive, is related to spastic paraplegia 18, autosomal recessive and spastic paraplegia 18. An important gene associated with Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome is ERLIN2 (ER Lipid Raft Associated 2).

Related Diseases for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Diseases related to Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 18, autosomal recessive 11.2
2 spastic paraplegia 18 10.9

Symptoms & Phenotypes for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Drugs & Therapeutics for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Search Clinical Trials , NIH Clinical Center for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome

Genetic Tests for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Anatomical Context for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Publications for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Variations for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Expression for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Search GEO for disease gene expression data for Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome.

Pathways for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

GO Terms for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

Sources for Recessive Intellectual Disability-Motor Dysfunction-Multiple...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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