LICAS
MCID: LCM001
MIFTS: 9

Li-Campeau Syndrome (LICAS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Li-Campeau Syndrome

MalaCards integrated aliases for Li-Campeau Syndrome:

Name: Li-Campeau Syndrome 57
Licas 57

Classifications:



External Ids:

OMIM® 57 619189

Summaries for Li-Campeau Syndrome

OMIM® : 57 Li-Campeau syndrome (LICAS) is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy (summary by Li et al., 2021). (619189) (Updated 05-Mar-2021)

MalaCards based summary : Li-Campeau Syndrome, is also known as licas. An important gene associated with Li-Campeau Syndrome is UBR7 (Ubiquitin Protein Ligase E3 Component N-Recognin 7).

Related Diseases for Li-Campeau Syndrome

Symptoms & Phenotypes for Li-Campeau Syndrome

Clinical features from OMIM®:

619189 (Updated 05-Mar-2021)

Drugs & Therapeutics for Li-Campeau Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Factor XI LICA to Reduce Thrombotic Events in End-Stage Renal Disease Patients on Hemodialysis: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Multiple Doses of BAY 2976217 Recruiting NCT04534114 Phase 2 BAY2976217;Placebo

Search NIH Clinical Center for Li-Campeau Syndrome

Genetic Tests for Li-Campeau Syndrome

Anatomical Context for Li-Campeau Syndrome

Publications for Li-Campeau Syndrome

Articles related to Li-Campeau Syndrome:

# Title Authors PMID Year
1
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. 57
33340455 2021
2
Thermal stabilization of an endoglucanase by cyclization. 61
22653681 2012

Variations for Li-Campeau Syndrome

Expression for Li-Campeau Syndrome

Search GEO for disease gene expression data for Li-Campeau Syndrome.

Pathways for Li-Campeau Syndrome

GO Terms for Li-Campeau Syndrome

Sources for Li-Campeau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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