MCID: MNT266
MIFTS: 21

Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects

Categories: Genetic diseases, Neuronal diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Mental 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 75 29 6
Mrfacd 57 75
Mental Retardation, Distinctive Facial Features with/without Cardiac Defects 40
Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cardiac anomalies-developmental delay-facial dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
mental retardation and distinctive facial features with or without cardiac defects:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 13 Like). Related phenotypes are cryptorchidism and wide mouth

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)

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 11.5

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
upslanting palpebral fissures

Head And Neck Neck:
short neck

Skeletal Hands:
clinodactyly

Head And Neck Nose:
depressed nasal bridge
bulbous nasal tip

Genitourinary External Genitalia Male:
cryptorchidism

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

Skin Nails Hair Hair:
frontal hair upsweep

Skeletal Feet:
clubfoot (in some patients)

Head And Neck Ears:
low-set ears
large ears

Head And Neck Face:
frontal bossing
triangular face
bitemporal narrowing
asymmetric face

Head And Neck Mouth:
macroglossia
macrostomia
hypotonic open mouth

Head And Neck Head:
brachycephaly
plagiocephaly

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

Muscle Soft Tissue:
hypotonia

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


Clinical features from OMIM:

616789

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

32 (show all 34)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 wide mouth 32 HP:0000154
3 macroglossia 32 HP:0000158
4 open mouth 32 HP:0000194
5 everted lower lip vermilion 32 HP:0000232
6 brachycephaly 32 HP:0000248
7 round face 32 HP:0000311
8 hypertelorism 32 HP:0000316
9 triangular face 32 HP:0000325
10 narrow forehead 32 HP:0000341
11 low-set ears 32 HP:0000369
12 macrotia 32 HP:0000400
13 bulbous nose 32 HP:0000414
14 short neck 32 HP:0000470
15 strabismus 32 HP:0000486
16 upslanted palpebral fissure 32 HP:0000582
17 coloboma 32 HP:0000589
18 autism 32 HP:0000717
19 ataxia 32 HP:0001251
20 dysarthria 32 HP:0001260
21 global developmental delay 32 HP:0001263
22 motor delay 32 HP:0001270
23 generalized hypotonia 32 HP:0001290
24 plagiocephaly 32 HP:0001357
25 patent foramen ovale 32 HP:0001655
26 transposition of the great arteries 32 occasional (7.5%) HP:0001669
27 talipes equinovarus 32 occasional (7.5%) HP:0001762
28 frontal bossing 32 HP:0002007
29 intellectual disability, moderate 32 HP:0002342
30 poor speech 32 HP:0002465
31 recurrent infections 32 HP:0002719
32 depressed nasal bridge 32 HP:0005280
33 prominent forehead 32 HP:0011220
34 clinodactyly 32 HP:0030084

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...

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

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 all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED13L NM_015335.4(MED13L): c.480-1G> T single nucleotide variant Pathogenic rs869025288 GRCh38 Chromosome 12, 116022602: 116022602
2 MED13L NC_000012.12: g.(?_115982183)_(116022795_?)del deletion Pathogenic GRCh38 Chromosome 12, 115982183: 116022795
3 MED13L NC_000012.12: g.(?_115982183)_(116022795_?)del deletion Pathogenic GRCh37 Chromosome 12, 116419988: 116460600
4 MED13L NM_015335.4(MED13L): c.1708_1709delAG (p.Ser570Phefs) deletion Pathogenic rs869025286 GRCh38 Chromosome 12, 116008704: 116008705
5 MED13L NM_015335.4(MED13L): c.1708_1709delAG (p.Ser570Phefs) deletion Pathogenic rs869025286 GRCh37 Chromosome 12, 116446509: 116446510
6 MED13L NM_015335.4(MED13L): c.6118_6125delGGCATATT (p.Gly2040Asnfs) deletion Pathogenic rs869025287 GRCh37 Chromosome 12, 116406845: 116406852
7 MED13L NM_015335.4(MED13L): c.6118_6125delGGCATATT (p.Gly2040Asnfs) deletion Pathogenic rs869025287 GRCh38 Chromosome 12, 115969040: 115969047
8 MED13L NM_015335.4(MED13L): c.480-1G> T single nucleotide variant Pathogenic rs869025288 GRCh37 Chromosome 12, 116460407: 116460407
9 MED13L NC_000012.12 duplication Pathogenic GRCh38 Chromosome 12, 116046494: 116257969
10 MED13L NC_000012.12 duplication Pathogenic GRCh37 Chromosome 12, 116484299: 116695774
11 MED13L NM_015335.4(MED13L): c.5949_5950delTC (p.Gln1984Alafs) deletion Pathogenic rs869025289 GRCh37 Chromosome 12, 116408516: 116408517
12 MED13L NM_015335.4(MED13L): c.5949_5950delTC (p.Gln1984Alafs) deletion Pathogenic rs869025289 GRCh38 Chromosome 12, 115970711: 115970712
13 MED13L NM_015335.4(MED13L): c.3765delC (p.Cys1256Valfs) deletion Pathogenic rs869025290 GRCh38 Chromosome 12, 115991189: 115991189
14 MED13L NM_015335.4(MED13L): c.3765delC (p.Cys1256Valfs) deletion Pathogenic rs869025290 GRCh37 Chromosome 12, 116428994: 116428994
15 MED13L NM_015335.4(MED13L): c.607dupT (p.Ser203Phefs) duplication Pathogenic rs869025291 GRCh37 Chromosome 12, 116460279: 116460279
16 MED13L NM_015335.4(MED13L): c.607dupT (p.Ser203Phefs) duplication Pathogenic rs869025291 GRCh38 Chromosome 12, 116022474: 116022474
17 MED13L NM_015335.4(MED13L): c.124_125insG (p.Asp42Glyfs) insertion Pathogenic rs869312875 GRCh37 Chromosome 12, 116675459: 116675459
18 MED13L NM_015335.4(MED13L): c.124_125insG (p.Asp42Glyfs) insertion Pathogenic rs869312875 GRCh38 Chromosome 12, 116237654: 116237654
19 MED13L NM_015335.4(MED13L): c.6485C> T (p.Thr2162Met) single nucleotide variant Pathogenic rs869312707 GRCh37 Chromosome 12, 116401227: 116401227
20 MED13L NM_015335.4(MED13L): c.6485C> T (p.Thr2162Met) single nucleotide variant Pathogenic rs869312707 GRCh38 Chromosome 12, 115963422: 115963422
21 MED13L NM_015335.4(MED13L): c.4956-2A> C single nucleotide variant Pathogenic rs1057518705 GRCh37 Chromosome 12, 116420410: 116420410
22 MED13L NM_015335.4(MED13L): c.4956-2A> C single nucleotide variant Pathogenic rs1057518705 GRCh38 Chromosome 12, 115982605: 115982605
23 MED13L NM_015335.4(MED13L): c.5152_5153delAT (p.Met1718Glufs) deletion Pathogenic GRCh37 Chromosome 12, 116420211: 116420212
24 MED13L NM_015335.4(MED13L): c.5152_5153delAT (p.Met1718Glufs) deletion Pathogenic GRCh38 Chromosome 12, 115982406: 115982407
25 MED13L NM_015335.4(MED13L): c.4452delT (p.Phe1484Leufs) deletion Pathogenic GRCh37 Chromosome 12, 116422064: 116422064
26 MED13L NM_015335.4(MED13L): c.4452delT (p.Phe1484Leufs) deletion Pathogenic GRCh38 Chromosome 12, 115984259: 115984259
27 MED13L NM_015335.4(MED13L): c.2579A> G (p.Asp860Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 115997221: 115997221
28 MED13L NM_015335.4(MED13L): c.2579A> G (p.Asp860Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 116435026: 116435026
29 MED13L NM_015335.4(MED13L): c.2504delC (p.Pro835Leufs) deletion Pathogenic GRCh37 Chromosome 12, 116440873: 116440873
30 MED13L NM_015335.4(MED13L): c.2504delC (p.Pro835Leufs) deletion Pathogenic GRCh38 Chromosome 12, 116003068: 116003068
31 MED13L NM_015335.4(MED13L): c.2399dup (p.Thr801Asnfs) duplication Pathogenic rs1135401766 GRCh38 Chromosome 12, 116005939: 116005939
32 MED13L NM_015335.4(MED13L): c.2399dup (p.Thr801Asnfs) duplication Pathogenic rs1135401766 GRCh37 Chromosome 12, 116443744: 116443744
33 MED13L NM_015335.4(MED13L): c.5173C> T (p.Gln1725Ter) single nucleotide variant Pathogenic rs1135401765 GRCh38 Chromosome 12, 115982386: 115982386
34 MED13L NM_015335.4(MED13L): c.5173C> T (p.Gln1725Ter) single nucleotide variant Pathogenic rs1135401765 GRCh37 Chromosome 12, 116420191: 116420191
35 MED13L NM_015335.4(MED13L): c.5588+1G> A single nucleotide variant Pathogenic rs1135401810 GRCh37 Chromosome 12, 116413319: 116413319
36 MED13L NM_015335.4(MED13L): c.5588+1G> A single nucleotide variant Pathogenic rs1135401810 GRCh38 Chromosome 12, 115975514: 115975514
37 MED13L NM_015335.4(MED13L): c.6155A> C (p.Asn2052Thr) single nucleotide variant Uncertain significance rs766487372 GRCh37 Chromosome 12, 116406815: 116406815
38 MED13L NM_015335.4(MED13L): c.6155A> C (p.Asn2052Thr) single nucleotide variant Uncertain significance rs766487372 GRCh38 Chromosome 12, 115969010: 115969010
39 MED13L NM_015335.4(MED13L): c.1904G> A (p.Ser635Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144457722 GRCh37 Chromosome 12, 116446314: 116446314
40 MED13L NM_015335.4(MED13L): c.1904G> A (p.Ser635Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144457722 GRCh38 Chromosome 12, 116008509: 116008509
41 MED13L NM_015335.4(MED13L): c.2059C> T (p.Gln687Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 116445395: 116445395
42 MED13L NM_015335.4(MED13L): c.2059C> T (p.Gln687Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 116007590: 116007590
43 MED13L NM_015335.4(MED13L): c.2600C> T (p.Thr867Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 116435005: 116435005
44 MED13L NM_015335.4(MED13L): c.2600C> T (p.Thr867Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 115997200: 115997200
45 MED13L NM_015335.4(MED13L): c.516_517delTGinsAT (p.His172_Gly173delinsGlnTer) indel Pathogenic GRCh37 Chromosome 12, 116460369: 116460370
46 MED13L NM_015335.4(MED13L): c.516_517delTGinsAT (p.His172_Gly173delinsGlnTer) indel Pathogenic GRCh38 Chromosome 12, 116022564: 116022565

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...

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