MCID: MD1003

Med13l Haploinsufficiency Syndrome (ASRAS)

Categories: Rare diseases

Aliases & Classifications for Med13l Haploinsufficiency Syndrome

MalaCards integrated aliases for Med13l Haploinsufficiency Syndrome:

Name: Med13l Haploinsufficiency Syndrome 52 25
Intellectual Disability and Distinctive Facial Features with or Without Cardiac Defects 52 25
Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome 52 25
Med13l Syndrome 52 25
Developmental Delay-Facial Dysmorphism Syndrome Due to Med13l Deficiency 25
Med13l-Related Intellectual Disability 25
Asadollahi-Rauch Syndrome 25
Mrfacd 25
Asras 25


Summaries for Med13l Haploinsufficiency Syndrome

Genetics Home Reference : 25 MED13L syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. Additionally, some people with this condition have recurrent seizures (epilepsy) or heart abnormalities that are present from birth (congenital heart defects). MED13L Intellectual disability and developmental delay are usually moderate to severe in people with MED13L syndrome. Weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking, are early symptoms of the condition. After learning to walk, some affected individuals continue to have difficulty with coordination and balance (ataxia). Speech is also delayed, and most people with this condition develop only a few words or never learn to talk. People with MED13L syndrome may exhibit features typical of autism spectrum disorder, including repetitive behaviors and difficulty with social interactions. MED13L MED13L Most people with MED13L syndrome have unusual facial features that consist of a depressed nasal bridge, a bulbous nasal tip, straight eyebrows, outside corners of the eyes that point upward (upslanting palpebral fissures), full cheeks, and an open mouth. Other facial features that sometimes occur are a pronounced double curve of the upper lip (Cupid's bow), and a deep space between the nose and upper lip (philtrum). MED13L Different congenital heart defects can occur in MED13L syndrome. Affected individuals may have transposition of the great arteries, which is abnormal positioning of the large blood vessel that distributes blood from the heart to the rest of the body (aorta) and the artery that carries blood from the heart to the lungs (the pulmonary artery). Other congenital heart defects in MED13L syndrome include a hole between the two lower chambers of the heart (ventricular septal defect), a hole between the two upper chambers of the heart (patent foramen ovale), or a particular combination of heart defects known as tetralogy of Fallot. MED13L MED13L

MalaCards based summary : Med13l Haploinsufficiency Syndrome, also known as intellectual disability and distinctive facial features with or without cardiac defects, is related to alacrima, achalasia, and mental retardation syndrome and mental retardation and distinctive facial features with or without cardiac defects. An important gene associated with Med13l Haploinsufficiency Syndrome is MED13L (Mediator Complex Subunit 13L). Affiliated tissues include heart, eye and lung.

NIH Rare Diseases : 52 MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability , speech problems , and behavioral problems. People with the syndrome usually have distinctive facial features, such as eyes that slant upwards, a flat nasal bridge with a bulb-like tip, very small chin (micrognathia ), large and lowset ears, and broad forehead. Most children with the syndrome have poor muscle tone (hypotonia ) and may take longer to learn to sit and walk independently (delayed motor skills). Some babies with MED13L haploinsufficiency syndrome are born with heart defects, which may be mild or severe. Other features may include short stature , cleft palate , problems with coordination (ataxia ), and recurrent seizures (epilepsy ). MED13L haploinsufficiency syndrome is caused by changes (pathogenic variants, also called mutations ) in the MED13L gene . Diagnosis may be suspected due to distinctive facial features, speech delay, and intellectual disability, but must be confirmed by genetic testing . There is no cure or specific treatment for MED13L haploinsufficiency syndrome. Treatment depends on the types and severity of the medical, developmental, and behavioral problems affecting the person with the syndrome and may include heart surgery and therapies such as speech, occupational , and behavioral therapy.

Related Diseases for Med13l Haploinsufficiency Syndrome

Graphical network of the top 20 diseases related to Med13l Haploinsufficiency Syndrome:

Diseases related to Med13l Haploinsufficiency Syndrome

Symptoms & Phenotypes for Med13l Haploinsufficiency Syndrome

Drugs & Therapeutics for Med13l Haploinsufficiency Syndrome

Search Clinical Trials , NIH Clinical Center for Med13l Haploinsufficiency Syndrome

Genetic Tests for Med13l Haploinsufficiency Syndrome

Anatomical Context for Med13l Haploinsufficiency Syndrome

MalaCards organs/tissues related to Med13l Haploinsufficiency Syndrome:

Heart, Eye, Lung, Testes

Publications for Med13l Haploinsufficiency Syndrome

Articles related to Med13l Haploinsufficiency Syndrome:

# Title Authors PMID Year
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 61 52
28371282 2017
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 52
28645799 2017
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. 61
29511999 2018
[Clinical phenotype and genetic analysis of MED13L syndrome]. 61
29046205 2017
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? 61
27500536 2016
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 61
25712080 2015
Redefining the MED13L syndrome. 61
25758992 2015
Further confirmation of the MED13L haploinsufficiency syndrome. 61
24781760 2015
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 61
23403903 2013

Variations for Med13l Haploinsufficiency Syndrome

Expression for Med13l Haploinsufficiency Syndrome

Search GEO for disease gene expression data for Med13l Haploinsufficiency Syndrome.

Pathways for Med13l Haploinsufficiency Syndrome

GO Terms for Med13l Haploinsufficiency Syndrome

Sources for Med13l Haploinsufficiency Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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