Lessel-Kreienkamp Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Eye diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

Sources

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.

Sources

Related Diseases for Lessel-Kreienkamp Syndrome

Sources

Symptoms & Phenotypes for Lessel-Kreienkamp Syndrome

Human phenotypes related to Lessel-Kreienkamp Syndrome:

³⁰ (show all 32)

#	Description	HPO 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)

Sources

Drugs & Therapeutics for Lessel-Kreienkamp Syndrome

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

Sources

Genetic Tests for Lessel-Kreienkamp Syndrome

Sources

Anatomical Context for Lessel-Kreienkamp Syndrome

Organs/tissues related to Lessel-Kreienkamp Syndrome:

MalaCards : Brain, Eye

Sources

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	Lessel D...Kreienkamp HJ	33199684	2020

Sources

Genes for Lessel-Kreienkamp Syndrome

Genes related to Lessel-Kreienkamp Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	1233	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	33199684

Sources

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
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

Sources

Expression for Lessel-Kreienkamp Syndrome

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

Sources

Pathways for Lessel-Kreienkamp Syndrome

Sources

GO Terms for Lessel-Kreienkamp Syndrome

Sources

Sources for Lessel-Kreienkamp Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LESKRES MCID: LSS043 MIFTS: 23	Lessel-Kreienkamp Syndrome (LESKRES) Categories: Eye diseases, Genetic diseases, Mental diseases, Oral diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Lessel-Kreienkamp Syndrome (LESKRES)

Aliases & Classifications for Lessel-Kreienkamp Syndrome

MalaCards integrated aliases for Lessel-Kreienkamp Syndrome:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lessel-Kreienkamp Syndrome

Related Diseases for Lessel-Kreienkamp Syndrome

Symptoms & Phenotypes for Lessel-Kreienkamp Syndrome

Human phenotypes related to Lessel-Kreienkamp Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lessel-Kreienkamp Syndrome

Genetic Tests for Lessel-Kreienkamp Syndrome

Anatomical Context for Lessel-Kreienkamp Syndrome

Organs/tissues related to Lessel-Kreienkamp Syndrome:

Publications for Lessel-Kreienkamp Syndrome

Articles related to Lessel-Kreienkamp Syndrome:

Genes for Lessel-Kreienkamp Syndrome

Genes related to Lessel-Kreienkamp Syndrome (1 elite genes):

Variations for Lessel-Kreienkamp Syndrome

ClinVar genetic disease variations for Lessel-Kreienkamp Syndrome:

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

Expression for Lessel-Kreienkamp Syndrome

Pathways for Lessel-Kreienkamp Syndrome

GO Terms for Lessel-Kreienkamp Syndrome

Sources for Lessel-Kreienkamp Syndrome