LESKRES
MCID: LSS043
MIFTS: 14

Lessel-Kreienkamp Syndrome (LESKRES)

Categories: Genetic diseases

Aliases & Classifications for Lessel-Kreienkamp Syndrome

MalaCards integrated aliases for Lessel-Kreienkamp Syndrome:

Name: Lessel-Kreienkamp Syndrome 57 6
Leskres 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable phenotype and severity


Classifications:



External Ids:

OMIM® 57 619149

Summaries for Lessel-Kreienkamp Syndrome

OMIM® : 57 Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features may also be present (summary by Lessel et al., 2020). (619149) (Updated 05-Mar-2021)

MalaCards based summary : Lessel-Kreienkamp Syndrome, is also known as leskres. An important gene associated with Lessel-Kreienkamp Syndrome is AGO2 (Argonaute RISC Catalytic Component 2). Affiliated tissues include brain.

Related Diseases for Lessel-Kreienkamp Syndrome

Symptoms & Phenotypes for Lessel-Kreienkamp Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
dysmorphic facial features, variable

Respiratory:
sleep apnea
respiratory abnormalities (in some patients)

Skeletal Pelvis:
hip dysplasia

Abdomen Gastrointestinal:
gastroesophageal reflux
neonatal feeding problems

Cardiovascular Heart:
patent ductus arteriosus
patent foramen ovale
pulmonary valve stenosis
septal defects
cardiac defects (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
adhd

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Ears:
helix defects

Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
global developmental delay
inability to walk
hypotonia
enlarged ventricles
seizures (in some patients)
more
Head And Neck Eyes:
visual impairment
strabismus
myopia
epicanthal folds
deep-set eyes
more
Head And Neck Mouth:
open mouth
thin upper lip

Skeletal Skull:
plagiocephaly
scaphocephaly
skull deformities

Head And Neck Nose:
broad nasal bridge

Head And Neck Teeth:
dental anomalies

Clinical features from OMIM®:

619149 (Updated 05-Mar-2021)

Drugs & Therapeutics for Lessel-Kreienkamp Syndrome

Search Clinical Trials , NIH Clinical Center for Lessel-Kreienkamp Syndrome

Genetic Tests for Lessel-Kreienkamp Syndrome

Anatomical Context for Lessel-Kreienkamp Syndrome

MalaCards organs/tissues related to Lessel-Kreienkamp Syndrome:

40
Brain

Publications for Lessel-Kreienkamp Syndrome

Articles related to Lessel-Kreienkamp Syndrome:

# Title Authors PMID Year
1
Germline AGO2 mutations impair RNA interference and human neurological development. 57 6
33199684 2020

Variations for Lessel-Kreienkamp Syndrome

ClinVar genetic disease variations for Lessel-Kreienkamp Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGO2 NM_012154.5:c.575T>C SNV Pathogenic 995791
2 AGO2 NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) SNV Pathogenic 995792 8:141566342-141566342 8:140556243-140556243
3 AGO2 NM_012154.5(AGO2):c.1091T>C (p.Met364Thr) SNV Pathogenic 995793 8:141566321-141566321 8:140556222-140556222
4 AGO2 NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) SNV Pathogenic 995794 8:141545586-141545586 8:140535487-140535487
5 AGO2 NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del) Microsatellite Pathogenic 995795 8:141570582-141570584 8:140560483-140560485
6 AGO2 NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg) SNV Pathogenic 995796 8:141545641-141545641 8:140535542-140535542

Expression for Lessel-Kreienkamp Syndrome

Search GEO for disease gene expression data for Lessel-Kreienkamp Syndrome.

Pathways for Lessel-Kreienkamp Syndrome

GO Terms for Lessel-Kreienkamp Syndrome

Sources for Lessel-Kreienkamp 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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