MRFACD
MCID: MNT266
MIFTS: 30

Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects (MRFACD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation and Distinctive Facial Features with or...

MalaCards integrated aliases for Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

Name: Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 57 72 29 6
Mrfacd 57 72
Mental Retardation, Distinctive Facial Features with/without Cardiac Defects 39
Developmental Delay-Facial Dysmorphism Syndrome Due to Med13l Deficiency 58
Med13l-Related Intellectual Disability Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
developmental delay-facial dysmorphism syndrome due to med13l deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
variable features
incomplete penetrance of the cardiac phenotype


HPO:

31
mental retardation and distinctive facial features with or without cardiac defects:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Mental Retardation and Distinctive Facial Features with or...

UniProtKB/Swiss-Prot : 72 Mental retardation and distinctive facial features with or without cardiac defects: An autosomal dominant, syndromic form of mental retardation characterized by delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects, also known as mrfacd, is related to med13l haploinsufficiency syndrome. An important gene associated with Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects is MED13L (Mediator Complex Subunit 13L). Affiliated tissues include heart, and related phenotypes are talipes equinovarus and transposition of the great arteries

OMIM® : 57 Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015). (616789) (Updated 05-Apr-2021)

Related Diseases for Mental Retardation and Distinctive Facial Features with or...

Diseases related to Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 med13l haploinsufficiency syndrome 11.0

Symptoms & Phenotypes for Mental Retardation and Distinctive Facial Features with or...

Human phenotypes related to Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

31 58 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 talipes equinovarus 31 occasional (7.5%) HP:0001762
2 transposition of the great arteries 31 occasional (7.5%) HP:0001669
3 ataxia 58 31 Occasional (29-5%) HP:0001251
4 short neck 58 31 Occasional (29-5%) HP:0000470
5 macroglossia 58 31 Frequent (79-30%) HP:0000158
6 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
7 depressed nasal bridge 58 31 Occasional (29-5%) HP:0005280
8 hypertelorism 58 31 Occasional (29-5%) HP:0000316
9 macrotia 58 31 Occasional (29-5%) HP:0000400
10 brachycephaly 58 31 Occasional (29-5%) HP:0000248
11 cryptorchidism 58 31 Occasional (29-5%) HP:0000028
12 autism 58 31 Occasional (29-5%) HP:0000717
13 low-set ears 58 31 Frequent (79-30%) HP:0000369
14 motor delay 58 31 Very frequent (99-80%) HP:0001270
15 wide mouth 58 31 Frequent (79-30%) HP:0000154
16 open mouth 58 31 Frequent (79-30%) HP:0000194
17 upslanted palpebral fissure 58 31 Frequent (79-30%) HP:0000582
18 intellectual disability, moderate 58 31 Frequent (79-30%) HP:0002342
19 bulbous nose 58 31 Frequent (79-30%) HP:0000414
20 round face 58 31 Occasional (29-5%) HP:0000311
21 triangular face 58 31 Occasional (29-5%) HP:0000325
22 plagiocephaly 58 31 Occasional (29-5%) HP:0001357
23 poor speech 58 31 Frequent (79-30%) HP:0002465
24 clinodactyly 58 31 Occasional (29-5%) HP:0030084
25 narrow forehead 58 31 Occasional (29-5%) HP:0000341
26 patent foramen ovale 58 31 Occasional (29-5%) HP:0001655
27 frontal bossing 31 HP:0002007
28 eeg abnormality 58 Occasional (29-5%)
29 ptosis 58 Occasional (29-5%)
30 dysarthria 31 HP:0001260
31 high palate 58 Occasional (29-5%)
32 muscular hypotonia 58 Frequent (79-30%)
33 hearing impairment 58 Occasional (29-5%)
34 behavioral abnormality 58 Frequent (79-30%)
35 mandibular prognathia 58 Occasional (29-5%)
36 widely spaced teeth 58 Occasional (29-5%)
37 wide nasal bridge 58 Frequent (79-30%)
38 delayed speech and language development 58 Very frequent (99-80%)
39 umbilical hernia 58 Occasional (29-5%)
40 short nose 58 Occasional (29-5%)
41 short stature 58 Occasional (29-5%)
42 prominent forehead 31 HP:0011220
43 everted lower lip vermilion 31 HP:0000232
44 strabismus 31 HP:0000486
45 specific learning disability 58 Frequent (79-30%)
46 epicanthus 58 Occasional (29-5%)
47 myopia 58 Occasional (29-5%)
48 downturned corners of mouth 58 Occasional (29-5%)
49 preauricular skin tag 58 Occasional (29-5%)
50 low anterior hairline 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
triangular face
bitemporal narrowing
asymmetric face

Head And Neck Mouth:
macroglossia
macrostomia
hypotonic open mouth

Head And Neck Eyes:
hypertelorism
strabismus
upslanting palpebral fissures

Genitourinary External Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
poor speech
ataxia (in some patients)
delayed psychomotor development, moderate

Cardiovascular Heart:
patent foramen ovale
septal defect
cardiac malformations (in some patients)
transposition of the great arteries (in some patients)

Skeletal Feet:
clubfoot (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
bulbous nasal tip

Head And Neck Head:
brachycephaly
plagiocephaly

Head And Neck Ears:
low-set ears
large ears

Skeletal Hands:
clinodactyly

Muscle Soft Tissue:
hypotonia

Skin Nails Hair Hair:
frontal hair upsweep

Clinical features from OMIM®:

616789 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation and Distinctive Facial Features with or...

Search Clinical Trials , NIH Clinical Center for Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects

Genetic Tests for Mental Retardation and Distinctive Facial Features with or...

Genetic tests related to Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

# Genetic test Affiliating Genes
1 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 29 MED13L

Anatomical Context for Mental Retardation and Distinctive Facial Features with or...

MalaCards organs/tissues related to Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

40
Heart

Publications for Mental Retardation and Distinctive Facial Features with or...

Articles related to Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

# Title Authors PMID Year
1
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 57 6
25712080 2015
2
Redefining the MED13L syndrome. 57 6
25758992 2015
3
Further confirmation of the MED13L haploinsufficiency syndrome. 57 6
24781760 2015
4
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 6 57
25167861 2014
5
De novo mutations in moderate or severe intellectual disability. 6 57
25356899 2014
6
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 6
28645799 2017
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
8
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 57
25137640 2014
9
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 57
23403903 2013
10
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 57
14638541 2003

Variations for Mental Retardation and Distinctive Facial Features with or...

ClinVar genetic disease variations for Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED13L NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs) Deletion Pathogenic 221556 rs869025287 GRCh37: 12:116406845-116406852
GRCh38: 12:115969040-115969047
2 MED13L NM_015335.4(MED13L):c.607dup (p.Ser203fs) Duplication Pathogenic 221562 rs869025291 GRCh37: 12:116460278-116460279
GRCh38: 12:116022473-116022474
3 MED13L and overlap with 1 gene(s) NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup Duplication Pathogenic 221559 GRCh37: 12:116484299-116695774
GRCh38: 12:116046494-116257969
4 MED13L NM_015335.4(MED13L):c.480-1G>T SNV Pathogenic 221557 rs869025288 GRCh37: 12:116460407-116460407
GRCh38: 12:116022602-116022602
5 MED13L NM_015335.4(MED13L):c.5947_5948TC[1] (p.Gln1984fs) Microsatellite Pathogenic 221560 rs869025289 GRCh37: 12:116408516-116408517
GRCh38: 12:115970711-115970712
6 MED13L NC_000012.12:g.(?_115982183)_(116022795_?)del Deletion Pathogenic 221558 GRCh37: 12:116419988-116460600
GRCh38: 12:115982183-116022795
7 MED13L NM_015335.4(MED13L):c.1704_1705AG[2] (p.Ser570fs) Microsatellite Pathogenic 221555 rs869025286 GRCh37: 12:116446509-116446510
GRCh38: 12:116008704-116008705
8 MED13L NM_015335.4(MED13L):c.3765del (p.Cys1256fs) Deletion Pathogenic 221561 rs147976828 GRCh37: 12:116428994-116428994
GRCh38: 12:115991189-115991189
9 MED13L NM_015335.4(MED13L):c.124dup (p.Asp42fs) Duplication Pathogenic 224115 rs869312875 GRCh37: 12:116675458-116675459
GRCh38: 12:116237653-116237654
10 MED13L NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) SNV Pathogenic 224153 rs869312707 GRCh37: 12:116401227-116401227
GRCh38: 12:115963422-115963422
11 MED13L NM_015335.4(MED13L):c.4956-2A>C SNV Pathogenic 374334 rs1057518705 GRCh37: 12:116420410-116420410
GRCh38: 12:115982605-115982605
12 MED13L NM_015335.4(MED13L):c.5173C>T (p.Gln1725Ter) SNV Pathogenic 431108 rs1135401765 GRCh37: 12:116420191-116420191
GRCh38: 12:115982386-115982386
13 MED13L NM_015335.4(MED13L):c.2399dup (p.Thr801fs) Duplication Pathogenic 431100 rs1135401766 GRCh37: 12:116443743-116443744
GRCh38: 12:116005938-116005939
14 MED13L NM_015335.4(MED13L):c.4452del (p.Phe1484fs) Deletion Pathogenic 375612 rs1555243582 GRCh37: 12:116422064-116422064
GRCh38: 12:115984259-115984259
15 MED13L NM_015335.4(MED13L):c.2059C>T (p.Gln687Ter) SNV Pathogenic 433184 rs1555247699 GRCh37: 12:116445395-116445395
GRCh38: 12:116007590-116007590
16 MED13L NM_015335.4(MED13L):c.5150_5151AT[1] (p.Met1718fs) Microsatellite Pathogenic 375611 rs1555243059 GRCh37: 12:116420211-116420212
GRCh38: 12:115982406-115982407
17 MED13L NM_015335.4(MED13L):c.2504del (p.Pro835fs) Deletion Pathogenic 427896 rs1555246952 GRCh37: 12:116440873-116440873
GRCh38: 12:116003068-116003068
18 MED13L NM_015335.4(MED13L):c.2107C>T (p.Gln703Ter) SNV Pathogenic 545567 rs1555247672 GRCh37: 12:116445347-116445347
GRCh38: 12:116007542-116007542
19 MED13L NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) Indel Pathogenic 520431 rs1555250044 GRCh37: 12:116460369-116460370
GRCh38: 12:116022564-116022565
20 MED13L NM_015335.4(MED13L):c.5502del (p.His1834fs) Deletion Pathogenic 620030 rs1565987758 GRCh37: 12:116413406-116413406
GRCh38: 12:115975601-115975601
21 MED13L GRCh37/hg19 12q24.21(chr12:116446308-116638445) copy number loss Pathogenic 625563 GRCh37: 12:116446308-116638445
GRCh38:
22 MED13L GRCh37/hg19 12q24.21(chr12:116622732-116685976) copy number loss Pathogenic 625741 GRCh37: 12:116622732-116685976
GRCh38:
23 MED13L NM_015335.4(MED13L):c.6260del (p.Pro2087fs) Deletion Pathogenic 626269 rs1565982697 GRCh37: 12:116404014-116404014
GRCh38: 12:115966209-115966209
24 MED13L NM_015335.5(MED13L):c.747_748del (p.Lys250fs) Deletion Pathogenic 807443 rs1592953902 GRCh37: 12:116457655-116457656
GRCh38: 12:116019850-116019851
25 MED13L NM_015335.5(MED13L):c.4622del (p.Thr1541fs) Deletion Pathogenic 930384 GRCh37: 12:116421255-116421255
GRCh38: 12:115983450-115983450
26 MED13L NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) Deletion Pathogenic 973240 GRCh37: 12:116452996-116453012
GRCh38: 12:116015191-116015207
27 MED13L NM_015335.5(MED13L):c.760_1175+967del Deletion Pathogenic 976020 GRCh37: 12:116451947-116457643
GRCh38: 12:116014142-116019838
28 MED13L NM_015335.5(MED13L):c.1496dup (p.Met499fs) Duplication Pathogenic 979197 GRCh37: 12:116446721-116446722
GRCh38: 12:116008916-116008917
29 MED13L NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) SNV Pathogenic 982756 GRCh37: 12:116413346-116413346
GRCh38: 12:115975541-115975541
30 MED13L NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) SNV Pathogenic 817519 rs1592919048 GRCh37: 12:116424952-116424952
GRCh38: 12:115987147-115987147
31 MED13L GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1 copy number loss Pathogenic 984748 GRCh37: 12:116673140-116676995
GRCh38:
32 MED13L NM_015335.5(MED13L):c.6226-1G>C SNV Pathogenic 984749 GRCh37: 12:116404049-116404049
GRCh38: 12:115966244-115966244
33 MED13L NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) Deletion Pathogenic 984809 GRCh37: 12:116409967-116409977
GRCh38: 12:115972162-115972172
34 MED13L NM_015335.5(MED13L):c.4083del (p.Gln1361fs) Deletion Pathogenic 984810 GRCh37: 12:116424945-116424945
GRCh38: 12:115987140-115987140
35 MED13L NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) SNV Pathogenic 489304 rs1555245108 GRCh37: 12:116429290-116429290
GRCh38: 12:115991485-115991485
36 MED13L NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) Indel Pathogenic 521718 rs1555247853 GRCh37: 12:116446358-116446360
GRCh38: 12:116008553-116008555
37 MED13L NM_015335.5(MED13L):c.4120del (p.Glu1374fs) Deletion Pathogenic 984812 GRCh37: 12:116424289-116424289
GRCh38: 12:115986484-115986484
38 MED13L NM_015335.4(MED13L):c.1690C>T (p.Arg564Ter) SNV Pathogenic 521154 rs1555247936 GRCh37: 12:116446528-116446528
GRCh38: 12:116008723-116008723
39 MED13L NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) Duplication Pathogenic 430063 rs1131691764 GRCh37: 12:116422112-116422113
GRCh38: 12:115984307-115984308
40 MED13L NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) SNV Pathogenic 984826 GRCh37: 12:116413009-116413009
GRCh38: 12:115975204-115975204
41 MED13L NM_015335.4(MED13L):c.5444del (p.Thr1815fs) Deletion Pathogenic 252696 rs879255407 GRCh37: 12:116413464-116413464
GRCh38: 12:115975659-115975659
42 MED13L NM_015335.4(MED13L):c.2907_2910CTGT[1] (p.Leu971fs) Microsatellite Pathogenic 423751 rs1064796611 GRCh37: 12:116434363-116434366
GRCh38: 12:115996558-115996561
43 MED13L NM_015335.4(MED13L):c.4716del (p.Pro1573fs) Deletion Pathogenic 422943 rs1064796113 GRCh37: 12:116421161-116421161
GRCh38: 12:115983356-115983356
44 MED13L NM_015335.4(MED13L):c.1A>G (p.Met1Val) SNV Pathogenic 430179 rs1131691818 GRCh37: 12:116714936-116714936
GRCh38: 12:116277131-116277131
45 MED13L NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) SNV Pathogenic 431916 rs1555246145 GRCh37: 12:116435008-116435008
GRCh38: 12:115997203-115997203
46 MED13L NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) SNV Pathogenic 996080 GRCh37: 12:116422099-116422099
GRCh38: 12:115984294-115984294
47 MED13L NM_015335.5(MED13L):c.2318del (p.Ser773fs) Deletion Pathogenic 996082 GRCh37: 12:116444137-116444137
GRCh38: 12:116006332-116006332
48 MED13L NM_015335.4(MED13L):c.5588+1G>A SNV Pathogenic 431140 rs1135401810 GRCh37: 12:116413319-116413319
GRCh38: 12:115975514-115975514
49 MED13L NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) Duplication Pathogenic 984811 GRCh37: 12:116408475-116408476
GRCh38: 12:115970670-115970671
50 MED13L NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) Indel Pathogenic 1033770 GRCh37: 12:116424133-116424138
GRCh38: 12:115986328-115986333

Expression for Mental Retardation and Distinctive Facial Features with or...

Search GEO for disease gene expression data for Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects.

Pathways for Mental Retardation and Distinctive Facial Features with or...

GO Terms for Mental Retardation and Distinctive Facial Features with or...

Sources for Mental Retardation and Distinctive Facial Features with or...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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