CPCMR
MCID: CLF050
MIFTS: 27

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 12 72 36 29 6 39
Cardiac Malformation, Cleft Lip/palate, Microcephaly, and Digital Anomalies 57 12 72
Cpcmr 57 12 72
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 44
Cleft Palate, Cardiac Defects, and Intellectual Disabillity 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cleft palate, cardiac defects, and mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cleft Palate, Cardiac Defects, and Mental Retardation

KEGG : 36 Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has been reported that deletions in MEIS2 can cause this disease. MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development.

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 chromosome 2q35 duplication syndrome and microcephaly. An important gene associated with Cleft Palate, Cardiac Defects, and Mental Retardation is MEIS2 (Meis Homeobox 2). Affiliated tissues include eye, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has material basis in heterozygous mutation in MEIS2 on chromosome 15q14.

UniProtKB/Swiss-Prot : 72 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.

More information 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 chromosome 2q35 duplication syndrome 10.4
2 microcephaly 10.4
3 cleft lip 10.4
4 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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 broad thumb 31 HP:0011304
6 gastroesophageal reflux 31 HP:0002020
7 cleft palate 31 HP:0000175
8 low-set ears 31 HP:0000369
9 atrial septal defect 31 HP:0001631
10 coarctation of aorta 31 HP:0001680
11 upslanted palpebral fissure 31 HP:0000582
12 sandal gap 31 HP:0001852
13 cleft upper lip 31 HP:0000204
14 highly arched eyebrow 31 HP:0002553
15 deeply set eye 31 HP:0000490
16 large forehead 31 HP:0002003
17 ventricular septal defect 31 HP:0001629
18 high anterior hairline 31 HP:0009890
19 tented upper lip vermilion 31 HP:0010804
20 psychomotor retardation 31 HP:0025356
21 sparse eyebrow 31 HP:0045075
22 autistic behavior 31 HP:0000729
23 short 2nd finger 31 HP:0009536
24 short 5th finger 31 HP:0009237
25 2-3 toe syndactyly 31 HP:0004691
26 narrow forehead 31 HP:0000341
27 broad hallux 31 HP:0010055
28 cutaneous syndactyly 31 HP:0012725
29 laterally extended eyebrow 31 HP:0011230

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Head And Neck Eyes:
deep-set eyes
upslanting palpebral fissures
sparse eyebrows
arched eyebrows
laterally extended eyebrows
more
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

Neurologic Central Nervous System:
psychomotor retardation
learning disabilities
intellectual disability, mild to severe

Skeletal Hands:
broad thumbs

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

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

Clinical features from OMIM®:

600987 (Updated 20-May-2021)

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

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

Cochrane evidence based reviews: cardiac malformation, cleft lip-palate, microcephaly and digital anomalies

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:

40
Eye

Publications for Cleft Palate, Cardiac Defects, and Mental Retardation

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

# Title Authors PMID Year
1
De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. 57 6
27225850 2016
2
MEIS2 involvement in cardiac development, cleft palate, and intellectual disability. 57 6
25712757 2015
3
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. 6 57
24678003 2014
4
A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies? 57 61
8825606 1995
5
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

Variations for Cleft Palate, Cardiac Defects, and Mental Retardation

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

6 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEIS2 NG_029108.1:g.120078_181902dup Duplication Pathogenic 427214 GRCh37:
GRCh38:
2 MEIS2 NM_170675.5(MEIS2):c.611C>G (p.Ser204Ter) SNV Pathogenic 427215 rs749346955 GRCh37: 15:37385810-37385810
GRCh38: 15:37093609-37093609
3 MEIS2 NM_170675.5(MEIS2):c.992_994GAA[2] (p.Arg333del) Microsatellite Pathogenic 224962 rs879255264 GRCh37: 15:37188865-37188867
GRCh38: 15:36896664-36896666
4 MEIS2 NM_170675.5(MEIS2):c.825dup (p.Arg276fs) Duplication Pathogenic 559625 rs1555456994 GRCh37: 15:37329089-37329090
GRCh38: 15:37036888-37036889
5 MEIS2 NM_170675.5(MEIS2):c.964C>G (p.Gln322Glu) SNV Likely pathogenic 975446 GRCh37: 15:37242538-37242538
GRCh38: 15:36950337-36950337
6 MEIS2 NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) Deletion Likely pathogenic 803063 rs1595790647 GRCh37: 15:37242565-37242568
GRCh38: 15:36950364-36950367
7 MEIS2 NM_170675.5(MEIS2):c.877G>C (p.Ala293Pro) SNV Likely pathogenic 1033183 GRCh37: 15:37329038-37329038
GRCh38: 15:37036837-37036837
8 MEIS2 NM_170675.5(MEIS2):c.733G>A (p.Gly245Arg) SNV Uncertain significance 1061333 GRCh37: 15:37375993-37375993
GRCh38: 15:37083792-37083792
9 MEIS2 NM_170675.5(MEIS2):c.97A>G (p.Ile33Val) SNV Uncertain significance 851497 GRCh37: 15:37390316-37390316
GRCh38: 15:37098115-37098115
10 MEIS2 NM_170675.5(MEIS2):c.142A>G (p.Thr48Ala) SNV Uncertain significance 657998 rs1596139159 GRCh37: 15:37390271-37390271
GRCh38: 15:37098070-37098070
11 MEIS2 NM_170675.5(MEIS2):c.387+6G>C SNV Uncertain significance 1005146 GRCh37: 15:37388484-37388484
GRCh38: 15:37096283-37096283
12 MEIS2 NM_170675.5(MEIS2):c.1129A>C (p.Met377Leu) SNV Uncertain significance 854177 GRCh37: 15:37187370-37187370
GRCh38: 15:36895169-36895169
13 MEIS2 NM_170675.5(MEIS2):c.576_578inv (p.Arg192_Asp193delinsSerLeu) Inversion Uncertain significance 567456 GRCh37: 15:37385843-37385845
GRCh38: 15:37093642-37093644
14 MEIS2 NM_170675.5(MEIS2):c.167C>A (p.Pro56Gln) SNV Uncertain significance 1033182 GRCh37: 15:37390246-37390246
GRCh38: 15:37098045-37098045
15 MEIS2 NM_170675.5(MEIS2):c.657A>G (p.Arg219=) SNV Likely benign 706870 rs1041428405 GRCh37: 15:37376069-37376069
GRCh38: 15:37083868-37083868
16 MEIS2 NM_170675.5(MEIS2):c.687A>C (p.Ser229=) SNV Likely benign 733639 rs1183529709 GRCh37: 15:37376039-37376039
GRCh38: 15:37083838-37083838
17 MEIS2 NM_170675.5(MEIS2):c.96G>T (p.Pro32=) SNV Likely benign 532740 rs1301048671 GRCh37: 15:37390317-37390317
GRCh38: 15:37098116-37098116
18 MEIS2 NM_170675.5(MEIS2):c.507T>C (p.Asp169=) SNV Benign 532739 rs139184400 GRCh37: 15:37385914-37385914
GRCh38: 15:37093713-37093713
19 MEIS2 NM_170675.5(MEIS2):c.732C>T (p.Ser244=) SNV Benign 532737 rs61734550 GRCh37: 15:37375994-37375994
GRCh38: 15:37083793-37083793

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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