CPCMR
MCID: CLF050
MIFTS: 23

Cleft Palate, Cardiac Defects, and Mental Retardation (CPCMR)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Cleft Palate, Cardiac Defects, and Mental Retardation

MalaCards integrated aliases for Cleft Palate, Cardiac Defects, and Mental Retardation:

Name: Cleft Palate, Cardiac Defects, and Mental Retardation 58 76 30 6 41
Cardiac Malformation, Cleft Lip/palate, Microcephaly, and Digital Anomalies 58 76
Cpcmr 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cleft palate, cardiac defects, and mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleft Palate, Cardiac Defects, and Mental Retardation

UniProtKB/Swiss-Prot : 76 Cleft palate, cardiac defects, and mental retardation: An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes.

MalaCards based summary : Cleft Palate, Cardiac Defects, and Mental Retardation, also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, is related to cleft lip and microcephaly. An important gene associated with Cleft Palate, Cardiac Defects, and Mental Retardation is MEIS2 (Meis Homeobox 2). Affiliated tissues include heart and eye, and related phenotypes are intellectual disability and global developmental delay

Description from OMIM: 600987

Related Diseases for Cleft Palate, Cardiac Defects, and Mental Retardation

Diseases related to Cleft Palate, Cardiac Defects, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft lip 10.4
2 microcephaly 10.4
3 cleft lip/palate 10.4

Symptoms & Phenotypes for Cleft Palate, Cardiac Defects, and Mental Retardation

Human phenotypes related to Cleft Palate, Cardiac Defects, and Mental Retardation:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 global developmental delay 33 HP:0001263
3 microcephaly 33 HP:0000252
4 short stature 33 HP:0004322
5 broad thumb 33 HP:0011304
6 gastroesophageal reflux 33 HP:0002020
7 cleft palate 33 HP:0000175
8 atrial septal defect 33 HP:0001631
9 coarctation of aorta 33 HP:0001680
10 deeply set eye 33 HP:0000490
11 upslanted palpebral fissure 33 HP:0000582
12 sandal gap 33 HP:0001852
13 ventricular septal defect 33 HP:0001629
14 large forehead 33 HP:0002003
15 highly arched eyebrow 33 HP:0002553
16 tented upper lip vermilion 33 HP:0010804
17 cleft upper lip 33 HP:0000204
18 autistic behavior 33 HP:0000729
19 high anterior hairline 33 HP:0009890
20 sparse eyebrow 33 HP:0045075
21 2-3 toe syndactyly 33 HP:0004691
22 short 2nd finger 33 HP:0009536
23 short 5th finger 33 HP:0009237
24 cutaneous syndactyly 33 HP:0012725
25 broad hallux 33 HP:0010055
26 narrow forehead 33 HP:0000341
27 psychomotor retardation 33 HP:0025356
28 laterally extended eyebrow 33 HP:0011230

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
gastroesophageal reflux
severe feeding problems

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
small left ventricular outflow tract without obstruction (in 1 patient)

Head And Neck Face:
large forehead
high anterior hairline
bitemporal narrowing

Skeletal Hands:
broad thumbs

Head And Neck Ears:
large, low-set ears

Respiratory Lung:
congenital lobar emphysema (in 1 patient)

Head And Neck Mouth:
cleft palate
thin upper vermilion
tented upper lip
full lower vermilion

Skeletal Feet:
sandal gap
broad great toe
cutaneous syndactyly between second and third toes

Head And Neck Eyes:
deep-set eyes
upslanting palpebral fissures
sparse eyebrows
arched eyebrows
laterally extended eyebrows
more
Neurologic Central Nervous System:
learning disabilities
psychomotor retardation
intellectual disability, mild to severe

Cardiovascular Vascular:
coarctation of the aorta (in 1 patient)

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in 1 patient)

Clinical features from OMIM:

600987

Drugs & Therapeutics for Cleft Palate, Cardiac Defects, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cleft Palate, Cardiac Defects, and Mental Retardation

Genetic Tests for Cleft Palate, Cardiac Defects, and Mental Retardation

Genetic tests related to Cleft Palate, Cardiac Defects, and Mental Retardation:

# Genetic test Affiliating Genes
1 Cleft Palate, Cardiac Defects, and Mental Retardation 30 MEIS2

Anatomical Context for Cleft Palate, Cardiac Defects, and Mental Retardation

MalaCards organs/tissues related to Cleft Palate, Cardiac Defects, and Mental Retardation:

42
Heart, Eye

Publications for Cleft Palate, Cardiac Defects, and Mental Retardation

Articles related to Cleft Palate, Cardiac Defects, and Mental Retardation:

# Title Authors Year
1
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. ( 27225850 )
2016
2
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability. ( 25712757 )
2015
3
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. ( 24678003 )
2014
4
A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies? ( 8825606 )
1995

Variations for Cleft Palate, Cardiac Defects, and Mental Retardation

ClinVar genetic disease variations for Cleft Palate, Cardiac Defects, and Mental Retardation:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEIS2 NM_170674.4(MEIS2): c.998_1000delGAA (p.Arg333del) deletion Pathogenic rs879255264 GRCh38 Chromosome 15, 36896664: 36896666
2 MEIS2 NM_170674.4(MEIS2): c.998_1000delGAA (p.Arg333del) deletion Pathogenic rs879255264 GRCh37 Chromosome 15, 37188865: 37188867
3 MEIS2 NG_029108.1: g.120078_181902dup duplication Pathogenic
4 MEIS2 NM_002399.3(MEIS2): c.572C> G (p.Ser191Ter) single nucleotide variant Pathogenic rs749346955 GRCh38 Chromosome 15, 37093609: 37093609
5 MEIS2 NM_002399.3(MEIS2): c.572C> G (p.Ser191Ter) single nucleotide variant Pathogenic rs749346955 GRCh37 Chromosome 15, 37385810: 37385810
6 MEIS2 NM_170674.4(MEIS2): c.732C> T (p.Ser244=) single nucleotide variant Benign rs61734550 GRCh37 Chromosome 15, 37375994: 37375994
7 MEIS2 NM_170674.4(MEIS2): c.732C> T (p.Ser244=) single nucleotide variant Benign rs61734550 GRCh38 Chromosome 15, 37083793: 37083793
8 MEIS2 NM_170674.4(MEIS2): c.507T> C (p.Asp169=) single nucleotide variant Benign rs139184400 GRCh37 Chromosome 15, 37385914: 37385914
9 MEIS2 NM_170674.4(MEIS2): c.507T> C (p.Asp169=) single nucleotide variant Benign rs139184400 GRCh38 Chromosome 15, 37093713: 37093713
10 MEIS2 NM_170674.4(MEIS2): c.471T> C (p.His157=) single nucleotide variant Likely benign rs137952617 GRCh38 Chromosome 15, 37094545: 37094545
11 MEIS2 NM_170674.4(MEIS2): c.471T> C (p.His157=) single nucleotide variant Likely benign rs137952617 GRCh37 Chromosome 15, 37386746: 37386746
12 MEIS2 NM_170674.4(MEIS2): c.96G> T (p.Pro32=) single nucleotide variant Likely benign rs1301048671 GRCh38 Chromosome 15, 37098116: 37098116
13 MEIS2 NM_170674.4(MEIS2): c.96G> T (p.Pro32=) single nucleotide variant Likely benign rs1301048671 GRCh37 Chromosome 15, 37390317: 37390317
14 MEIS2 NM_002399.3(MEIS2): c.786dup (p.Arg263Thrfs) duplication Pathogenic rs1555456994 GRCh38 Chromosome 15, 37036889: 37036889
15 MEIS2 NM_002399.3(MEIS2): c.786dup (p.Arg263Thrfs) duplication Pathogenic rs1555456994 GRCh37 Chromosome 15, 37329090: 37329090
16 MEIS2 NM_002399.3(MEIS2): c.537_539invAGA (p.Arg179_Asp180delinsSerLeu) inversion Uncertain significance GRCh38 Chromosome 15, 37093642: 37093644
17 MEIS2 NM_002399.3(MEIS2): c.537_539invAGA (p.Arg179_Asp180delinsSerLeu) inversion Uncertain significance GRCh37 Chromosome 15, 37385843: 37385845

Expression for Cleft Palate, Cardiac Defects, and Mental Retardation

Search GEO for disease gene expression data for Cleft Palate, Cardiac Defects, and Mental Retardation.

Pathways for Cleft Palate, Cardiac Defects, and Mental Retardation

GO Terms for Cleft Palate, Cardiac Defects, and Mental Retardation

Sources for Cleft Palate, Cardiac Defects, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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