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MCID: MLT173
MIFTS: 21

Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability

Categories: Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications
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Aliases & Classifications for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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MalaCards integrated aliases for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability:

Name: Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability 59 6
Multiple Congenital Anomalies-Intellectual Disability with or Without Dysmorphism 59
Mca/mr 59

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA102283
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Summaries for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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MalaCards based summary : Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability, also known as multiple congenital anomalies-intellectual disability with or without dysmorphism, is related to nguyen syndrome and richieri-costa/guion-almeida syndrome. An important gene associated with Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability is AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2). Affiliated tissues include heart, skin and bone.

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Related Diseases for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 nguyen syndrome 12.0
2 richieri-costa/guion-almeida syndrome 11.7
3 opitz-kaveggia syndrome 11.6
4 benjamin syndrome 11.6
5 microcephaly 10.5
6 hypotonia 10.3
7 cleft palate, isolated 10.2
8 scoliosis 10.2
9 ptosis 10.2
10 microphthalmia 10.2
11 hypospadias 10.2
12 cataract 10.2
13 chromosomal triplication 10.2
14 hypertelorism 10.1
15 inguinal hernia 10.1
16 visual epilepsy 10.1
17 seizure disorder 10.1
18 epicanthus 10.0
19 skin creases, congenital symmetric circumferential, 1 10.0
20 hemifacial microsomia 10.0
21 pterygia, mental retardation, and distinctive craniofacial features 10.0
22 chromosome 2q35 duplication syndrome 10.0
23 telecanthus 10.0
24 costello syndrome 10.0
25 smith-lemli-opitz syndrome 10.0
26 opitz gbbb syndrome, type i 10.0
27 branchiootic syndrome 1 10.0
28 hypobetalipoproteinemia, familial, 1 10.0
29 brachydactyly 10.0
30 myopia 10.0
31 dysostosis 10.0
32 craniosynostosis 10.0
33 cleft lip 10.0
34 craniofacial microsomia 10.0
35 congenital contractures 10.0
36 dwarfism 10.0
37 cleft lip/palate 10.0
38 coloboma, ocular, autosomal dominant 9.9
39 coloboma of macula 9.9
40 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9
41 treacher collins syndrome 1 9.9
42 moebius syndrome 9.9
43 optic nerve hypoplasia, bilateral 9.9
44 pectus excavatum 9.9
45 polydactyly, postaxial, type a1 9.9
46 neural tube defects 9.9
47 strabismus 9.9
48 tetralogy of fallot 9.9
49 tracheoesophageal fistula with or without esophageal atresia 9.9
50 down syndrome 9.9

Graphical network of the top 20 diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability:



Diseases related to Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability
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Symptoms & Phenotypes for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Drugs & Therapeutics for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability

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Genetic Tests for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Anatomical Context for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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MalaCards organs/tissues related to Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability:

41
Heart, Skin, Bone, Eye, Brain, Liver
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Publications for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Articles related to Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Delayed Stenosis in the Intracranial Vessels following Endovascular Treatment for Acute Stroke. 38
26428879 2015
2
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease. 38
25606056 2014
3
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. 38
24035971 2013
4
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. 38
23994350 2013
5
[Emergency carotid artery stenting within 24 hours after intravenous thrombolysis for acute ischemic stroke: a case report]. 38
23824351 2013
6
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. 38
23069192 2013
7
Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients. 38
22876589 2012
8
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries. 38
21457803 2011
9
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome. 38
21465653 2011
10
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia. 38
21595000 2011
11
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. 38
20981036 2011
12
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia. 38
20933621 2011
13
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance. 38
20949527 2010
14
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. 38
19878743 2010
15
A new association of multiple congenital anomalies/mental retardation syndrome with bradycardia-tachycardia syndrome: a case report. 38
20062738 2009
16
KBG syndrome: review of the literature and findings of 5 affected patients. 38
19716495 2009
17
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. 38
19396836 2009
18
Jacobsen syndrome. 38
19267933 2009
19
A missense mutation in CASK causes FG syndrome in an Italian family. 38
19200522 2009
20
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. 38
18564496 2008
21
Subtelomeric imbalances in phenotypically normal individuals. 38
17492636 2007
22
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. 38
18058629 2007
23
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 38
17497718 2007
24
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients. 38
19668508 2007
25
[Case of hemodynamic brain infarction diagnosed by transcranial Doppler]. 38
17633105 2007
26
The FG syndrome: report of a large Italian series. 38
16691600 2006
27
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. 38
16488200 2006
28
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. 38
16490798 2006
29
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region. 38
16762827 2006
30
Chromosomal abnormalities in 457 Turkish patients with MCA/MR. 38
16848112 2006
31
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. 38
17124404 2006
32
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. 38
16353244 2006
33
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome. 38
16088930 2005
34
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. 38
15770228 2005
35
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 38
15580635 2005
36
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome. 38
15057987 2004
37
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. 38
15039980 2004
38
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. 38
14981719 2004
39
[MCA/MR anomaly--case report]. 38
15636261 2004
40
MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia. 38
12910487 2003
41
Medial telangiectatic sacral nevi and MCA/MR syndromes. 38
12869167 2003
42
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27). 38
12833421 2003
43
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region. 38
12599186 2003
44
Kabuki make-up syndrome: a review. 38
12561059 2003
45
Two new cases of analphoid marker chromosomes. 38
12503108 2003
46
Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4. 38
12239731 2002
47
A second patient with MCA/MR syndrome with multiple circumferential skin creases. 38
12239728 2002
48
Unbalanced translocation (3;5)(q26.1;p14): a clinical report. 38
12116209 2002
49
Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). 38
11891691 2002
50
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation. 38
11891687 2002
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Variations for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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ClinVar genetic disease variations for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AUTS2 deletion Pathogenic 7:70105229-70203625 7:70640243-70738639
2 AUTS2 NC_000007.13: g.70236723_72383418del deletion Pathogenic 7:70236723-72383418 :0-0
3 AUTS2 NC_000007.13: g.69955482_70217682del deletion Pathogenic 7:69955482-70217682 7:70490496-70752696
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Expression for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Search GEO for disease gene expression data for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual Disability.
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Pathways for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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GO Terms for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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Sources for Multiple Congenital Anomalies/dysmorphic Syndrome-Intellectual...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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