MCID: RNN007
MIFTS: 6

Reunion Island Larsen-Like Syndrome

Categories: Bone diseases, Fetal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Reunion Island Larsen-Like Syndrome

MalaCards integrated aliases for Reunion Island Larsen-Like Syndrome:

Name: Reunion Island Larsen-Like Syndrome 58
Multiple Joint Dislocations-Short Stature-Hyperlaxity-Craniofacial Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
reunion island larsen-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q74.8
Orphanet 58 ORPHA294049

Summaries for Reunion Island Larsen-Like Syndrome

MalaCards based summary : Reunion Island Larsen-Like Syndrome, is also known as multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome. An important gene associated with Reunion Island Larsen-Like Syndrome is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include bone.

Related Diseases for Reunion Island Larsen-Like Syndrome

Symptoms & Phenotypes for Reunion Island Larsen-Like Syndrome

Drugs & Therapeutics for Reunion Island Larsen-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Reunion Island Larsen-Like Syndrome

Genetic Tests for Reunion Island Larsen-Like Syndrome

Anatomical Context for Reunion Island Larsen-Like Syndrome

MalaCards organs/tissues related to Reunion Island Larsen-Like Syndrome:

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Bone

Publications for Reunion Island Larsen-Like Syndrome

Variations for Reunion Island Larsen-Like Syndrome

Expression for Reunion Island Larsen-Like Syndrome

Search GEO for disease gene expression data for Reunion Island Larsen-Like Syndrome.

Pathways for Reunion Island Larsen-Like Syndrome

GO Terms for Reunion Island Larsen-Like Syndrome

Sources for Reunion Island Larsen-Like 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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