LESKRES
MCID: LSS043
MIFTS: 23

Lessel-Kreienkamp Syndrome (LESKRES)

Categories: Eye diseases, Genetic diseases, Mental diseases, Oral diseases
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Aliases & Classifications for Lessel-Kreienkamp Syndrome

MalaCards integrated aliases for Lessel-Kreienkamp Syndrome:

Name: Lessel-Kreienkamp Syndrome 57 73 5
Leskres 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable phenotype and severity


Classifications:



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 08-Dec-2022)

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 and eye, and related phenotypes are intellectual disability and seizure

UniProtKB/Swiss-Prot: 73 An autosomal dominant disorder characterized by global developmental delay, intellectual disability of variable degree, and speech and language delay apparent from infancy or early childhood. Behavioral disorders are observed in most patients. Additional variable features include seizures, hypotonia, gait abnormalities, visual and cardiac defects, and non-specific facial dysmorphism.

Related Diseases for Lessel-Kreienkamp Syndrome

Symptoms & Phenotypes for Lessel-Kreienkamp Syndrome

Human phenotypes related to Lessel-Kreienkamp Syndrome:

30 (show all 32)
# 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 frontal bossing 30 Very rare (1%) HP:0002007
4 hypotonia 30 Very rare (1%) HP:0001252
5 hearing impairment 30 Very rare (1%) HP:0000365
6 dental malocclusion 30 Very rare (1%) HP:0000689
7 wide nasal bridge 30 Very rare (1%) HP:0000431
8 visual impairment 30 Very rare (1%) HP:0000505
9 gastroesophageal reflux 30 Very rare (1%) HP:0002020
10 strabismus 30 Very rare (1%) HP:0000486
11 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
12 epicanthus 30 Very rare (1%) HP:0000286
13 bicuspid aortic valve 30 Very rare (1%) HP:0001647
14 motor delay 30 Very rare (1%) HP:0001270
15 open mouth 30 Very rare (1%) HP:0000194
16 upslanted palpebral fissure 30 Very rare (1%) HP:0000582
17 clinodactyly of the 5th finger 30 Very rare (1%) HP:0004209
18 overfolded helix 30 Very rare (1%) HP:0000396
19 patent ductus arteriosus 30 Very rare (1%) HP:0001643
20 thin upper lip vermilion 30 Very rare (1%) HP:0000219
21 deeply set eye 30 Very rare (1%) HP:0000490
22 pulmonic stenosis 30 Very rare (1%) HP:0001642
23 plagiocephaly 30 Very rare (1%) HP:0001357
24 feeding difficulties 30 Very rare (1%) HP:0011968
25 abnormal pattern of respiration 30 Very rare (1%) HP:0002793
26 autistic behavior 30 Very rare (1%) HP:0000729
27 aggressive behavior 30 Very rare (1%) HP:0000718
28 patent foramen ovale 30 Very rare (1%) HP:0001655
29 wide cranial sutures 30 Very rare (1%) HP:0010537
30 scaphocephaly 30 Very rare (1%) HP:0030799
31 hypoplastic helices 30 Very rare (1%) HP:0008589
32 receptive language delay 30 Very rare (1%) HP:0010863

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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:
hypotonia
global developmental delay
inability to walk
thin corpus callosum
enlarged ventricles
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 08-Dec-2022)

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

Organs/tissues related to Lessel-Kreienkamp Syndrome:

MalaCards : Brain, Eye

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 5
33199684 2020

Variations for Lessel-Kreienkamp Syndrome

ClinVar genetic disease variations for Lessel-Kreienkamp Syndrome:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AGO2 NM_012154.5(AGO2):c.575T>C (p.Leu192Pro) SNV Pathogenic
995791 rs2073179658 GRCh37: 8:141570553-141570553
GRCh38: 8:140560454-140560454
2 AGO2 NM_012154.5(AGO2):c.1091T>C (p.Met364Thr) SNV Pathogenic
995793 rs2073092234 GRCh37: 8:141566321-141566321
GRCh38: 8:140556222-140556222
3 AGO2 NM_012154.5(AGO2):c.541TTC[1] (p.Phe182del) MICROSAT Pathogenic
995795 rs2073180302 GRCh37: 8:141570582-141570584
GRCh38: 8:140560483-140560485
4 AGO2 NM_012154.5(AGO2):c.2197G>C (p.Gly733Arg) SNV Pathogenic
995796 rs2072681689 GRCh37: 8:141545641-141545641
GRCh38: 8:140535542-140535542
5 AGO2 NM_012154.5(AGO2):c.1070C>T (p.Thr357Met) SNV Pathogenic
995792 rs2073092496 GRCh37: 8:141566342-141566342
GRCh38: 8:140556243-140556243
6 AGO2 NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr) SNV Pathogenic
995794 rs2072680461 GRCh37: 8:141545586-141545586
GRCh38: 8:140535487-140535487
7 AGO2 NM_012154.5(AGO2):c.602G>T (p.Gly201Val) SNV Likely Pathogenic
1325742 GRCh37: 8:141570526-141570526
GRCh38: 8:140560427-140560427
8 AGO2 NM_012154.5(AGO2):c.1810G>A (p.Gly604Arg) SNV Likely Pathogenic
1328183 GRCh37: 8:141554341-141554341
GRCh38: 8:140544242-140544242
9 AGO2 NM_012154.5(AGO2):c.899G>A (p.Ser300Asn) SNV Uncertain Significance
1696492 GRCh37: 8:141567315-141567315
GRCh38: 8:140557216-140557216
10 AGO2 NM_012154.5(AGO2):c.337-7C>T SNV Uncertain Significance
1701673 GRCh37: 8:141572740-141572740
GRCh38: 8:140562641-140562641
11 AGO2 NM_012154.5(AGO2):c.586C>T (p.Arg196Ter) SNV Uncertain Significance
1687559 GRCh37: 8:141570542-141570542
GRCh38: 8:140560443-140560443

UniProtKB/Swiss-Prot genetic disease variations for Lessel-Kreienkamp Syndrome:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 AGO2 p.Leu192Pro VAR_085417
2 AGO2 p.Gly201Cys VAR_085418
3 AGO2 p.Gly201Val VAR_085419
4 AGO2 p.His203Gln VAR_085420
5 AGO2 p.Thr357Met VAR_085421
6 AGO2 p.Met364Thr VAR_085422
7 AGO2 p.Ala367Pro VAR_085423
8 AGO2 p.Gly573Ser VAR_085424
9 AGO2 p.Gly733Arg VAR_085425
10 AGO2 p.Cys751Tyr VAR_085426
11 AGO2 p.Ser760Arg VAR_085427

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

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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