LICAS
MCID: LCM001
MIFTS: 21

Li-Campeau Syndrome (LICAS)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Reproductive diseases
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Aliases & Classifications for Li-Campeau Syndrome

MalaCards integrated aliases for Li-Campeau Syndrome:

Name: Li-Campeau Syndrome 57 73 5
Licas 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity
variable features


Classifications:



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 08-Dec-2022)

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). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: 73 An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy.

Related Diseases for Li-Campeau Syndrome

Symptoms & Phenotypes for Li-Campeau Syndrome

Human phenotypes related to Li-Campeau Syndrome:

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 30 Very rare (1%) HP:0001249
2 seizure 30 Very rare (1%) HP:0001250
3 ptosis 30 Very rare (1%) HP:0000508
4 hypothyroidism 30 Very rare (1%) HP:0000821
5 hypotonia 30 Very rare (1%) HP:0001252
6 global developmental delay 30 Very rare (1%) HP:0001263
7 hypertelorism 30 Very rare (1%) HP:0000316
8 thick eyebrow 30 Very rare (1%) HP:0000574
9 short stature 30 Very rare (1%) HP:0004322
10 prominent forehead 30 Very rare (1%) HP:0011220
11 cryptorchidism 30 Very rare (1%) HP:0000028
12 low-set ears 30 Very rare (1%) HP:0000369
13 downslanted palpebral fissures 30 Very rare (1%) HP:0000494
14 micropenis 30 Very rare (1%) HP:0000054
15 patent ductus arteriosus 30 Very rare (1%) HP:0001643
16 long philtrum 30 Very rare (1%) HP:0000343
17 telecanthus 30 Very rare (1%) HP:0000506
18 ventricular septal defect 30 Very rare (1%) HP:0001629
19 single transverse palmar crease 30 Very rare (1%) HP:0000954
20 patellar hypoplasia 30 Very rare (1%) HP:0003065
21 hypertrichosis 30 Very rare (1%) HP:0000998
22 gastrointestinal dysmotility 30 Very rare (1%) HP:0002579
23 patent foramen ovale 30 Very rare (1%) HP:0001655
24 sudden unexpected death in epilepsy 30 Very rare (1%) HP:0033258

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
hypotonia
delayed myelination
thin corpus callosum
impaired intellectual development
more
Head And Neck Eyes:
ptosis
hypertelorism
strabismus
downslanting palpebral fissures
epicanthal folds
more
Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
small penis

Cardiovascular Heart:
patent ductus arteriosus
patent foramen ovale
septal defects

Skin Nails Hair Hair:
hypertrichosis

Head And Neck Mouth:
high-arched palate

Head And Neck Nose:
deep nasal bridge

Skeletal Spine:
scoliosis

Endocrine Features:
hypothyroidism

Head And Neck Face:
prominent forehead
long philtrum
dysmorphic facial features

Head And Neck Ears:
low-set ears

Skeletal Hands:
long fingers
single palmar crease

Abdomen Gastrointestinal:
gastrointestinal dysmotility

Head And Neck Head:
microcephaly (1 family)

Skeletal Limbs:
patellar hypoplasia (1 patient)

Clinical features from OMIM®:

619189 (Updated 08-Dec-2022)

Drugs & Therapeutics for Li-Campeau Syndrome

Search Clinical Trials, NIH Clinical Center for Li-Campeau Syndrome

Genetic Tests for Li-Campeau Syndrome

Anatomical Context for Li-Campeau Syndrome

Organs/tissues related to Li-Campeau Syndrome:

MalaCards : Brain

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 5
33340455 2021
2
Thermal stabilization of an endoglucanase by cyclization. 62
22653681 2012

Variations for Li-Campeau Syndrome

ClinVar genetic disease variations for Li-Campeau Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UBR7 NM_175748.4(UBR7):c.37G>T (p.Glu13Ter) SNV Pathogenic
997415 rs1225667509 GRCh37: 14:93673673-93673673
GRCh38: 14:93207328-93207328
2 UBR7 NM_175748.4(UBR7):c.564_565dup (p.Cys189fs) DUP Pathogenic
997416 rs1566821779 GRCh37: 14:93681589-93681590
GRCh38: 14:93215243-93215244
3 UBR7 NM_175748.4(UBR7):c.496-2A>G SNV Pathogenic
997417 rs1894564374 GRCh37: 14:93681520-93681520
GRCh38: 14:93215174-93215174
4 overlap with 2 genes NC_000014.8:g.93660388_93690906del DEL Pathogenic
997418 GRCh37: 14:93660388-93690906
GRCh38:
5 UBR7 NM_175748.4(UBR7):c.618del (p.Glu207fs) DEL Pathogenic
997419 rs1894637828 GRCh37: 14:93684889-93684889
GRCh38: 14:93218543-93218543
6 UBR7 NM_175748.4(UBR7):c.1186-1G>C SNV Pathogenic
997420 rs1894865880 GRCh37: 14:93693288-93693288
GRCh38: 14:93226942-93226942
7 UBR7 NM_175748.4(UBR7):c.166C>T (p.Gln56Ter) SNV Likely Pathogenic
1339353 GRCh37: 14:93676185-93676185
GRCh38: 14:93209839-93209839

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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