MCID: MD1003
MIFTS: 12

Med13l Haploinsufficiency Syndrome

Categories: Rare diseases

Aliases & Classifications for Med13l Haploinsufficiency Syndrome

MalaCards integrated aliases for Med13l Haploinsufficiency Syndrome:

Name: Med13l Haploinsufficiency Syndrome 54
Intellectual Disability and Distinctive Facial Features with or Without Cardiac Defects 54
Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome 54
Med13l Syndrome 54

Classifications:



Summaries for Med13l Haploinsufficiency Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Med13l Haploinsufficiency Syndrome, also known as intellectual disability and distinctive facial features with or without cardiac defects, is related to familial mediterranean fever and brucellosis. An important gene associated with Med13l Haploinsufficiency Syndrome is MED13L (Mediator Complex Subunit 13 Like). Affiliated tissues include heart, testes and eye.

Related Diseases for Med13l Haploinsufficiency Syndrome

Diseases related to Med13l Haploinsufficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 familial mediterranean fever 10.2
2 brucellosis 10.2

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:

42
Heart, Testes, Eye

Publications for Med13l Haploinsufficiency Syndrome

Articles related to Med13l Haploinsufficiency Syndrome:

# Title Authors Year
1
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. ( 28371282 )
2017
2
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. ( 25712080 )
2015
3
Further confirmation of the MED13L haploinsufficiency syndrome. ( 24781760 )
2015

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

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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