CPCMR
MCID: CLF050
MIFTS: 20

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 57 75 29 6 40
Cardiac Malformation, Cleft Lip/palate, Microcephaly, and Digital Anomalies 57 75
Cpcmr 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cleft palate, cardiac defects, and mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleft Palate, Cardiac Defects, and Mental Retardation

UniProtKB/Swiss-Prot : 75 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, is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies. 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 global developmental delay 32 HP:0001263
3 microcephaly 32 HP:0000252
4 short stature 32 HP:0004322
5 broad thumb 32 HP:0011304
6 gastroesophageal reflux 32 HP:0002020
7 cleft palate 32 HP:0000175
8 atrial septal defect 32 HP:0001631
9 coarctation of aorta 32 HP:0001680
10 deeply set eye 32 HP:0000490
11 upslanted palpebral fissure 32 HP:0000582
12 sandal gap 32 HP:0001852
13 ventricular septal defect 32 HP:0001629
14 large forehead 32 HP:0002003
15 highly arched eyebrow 32 HP:0002553
16 tented upper lip vermilion 32 HP:0010804
17 cleft upper lip 32 HP:0000204
18 autistic behavior 32 HP:0000729
19 high anterior hairline 32 HP:0009890
20 sparse eyebrow 32 HP:0045075
21 2-3 toe syndactyly 32 HP:0004691
22 short 2nd finger 32 HP:0009536
23 short 5th finger 32 HP:0009237
24 broad hallux 32 HP:0010055
25 narrow forehead 32 HP:0000341
26 cutaneous syndactyly 32 HP:0012725
27 laterally extended eyebrow 32 HP:0011230

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 29 MEIS2

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

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

41
Heart, Eye

Publications for Cleft Palate, Cardiac Defects, and Mental Retardation

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 GRCh37 Chromosome 15, 37386746: 37386746
11 MEIS2 NM_170674.4(MEIS2): c.471T> C (p.His157=) single nucleotide variant Likely benign rs137952617 GRCh38 Chromosome 15, 37094545: 37094545
12 MEIS2 NM_170674.4(MEIS2): c.96G> T (p.Pro32=) single nucleotide variant Likely benign GRCh37 Chromosome 15, 37390317: 37390317
13 MEIS2 NM_170674.4(MEIS2): c.96G> T (p.Pro32=) single nucleotide variant Likely benign GRCh38 Chromosome 15, 37098116: 37098116
14 MEIS2 NM_002399.3(MEIS2): c.786dup (p.Arg263Thrfs) duplication Pathogenic GRCh38 Chromosome 15, 37036889: 37036889
15 MEIS2 NM_002399.3(MEIS2): c.786dup (p.Arg263Thrfs) duplication Pathogenic 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....