CRPT2
MCID: CRP022
MIFTS: 31

Carpenter Syndrome 2 (CRPT2)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Carpenter Syndrome 2

MalaCards integrated aliases for Carpenter Syndrome 2:

Name: Carpenter Syndrome 2 57 72 29 13 6 70
Crpt2 57 72
Carpenter Syndrome, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
variable features present


HPO:

31
carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carpenter Syndrome 2

OMIM® : 57 Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000. (614976) (Updated 20-May-2021)

MalaCards based summary : Carpenter Syndrome 2, also known as crpt2, is related to cole-carpenter syndrome 2. An important gene associated with Carpenter Syndrome 2 is MEGF8 (Multiple EGF Like Domains 8). Affiliated tissues include spleen and liver, and related phenotypes are frontal bossing and umbilical hernia

UniProtKB/Swiss-Prot : 72 Carpenter syndrome 2: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.

Related Diseases for Carpenter Syndrome 2

Diseases in the Say Carpenter Syndrome family:

Carpenter Syndrome 1 Carpenter Syndrome 2

Diseases related to Carpenter Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 2 11.7

Symptoms & Phenotypes for Carpenter Syndrome 2

Human phenotypes related to Carpenter Syndrome 2:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 occasional (7.5%) HP:0002007
2 umbilical hernia 31 occasional (7.5%) HP:0001537
3 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
4 brachycephaly 31 occasional (7.5%) HP:0000248
5 retrognathia 31 occasional (7.5%) HP:0000278
6 webbed neck 31 occasional (7.5%) HP:0000465
7 atrial septal defect 31 occasional (7.5%) HP:0001631
8 protruding ear 31 occasional (7.5%) HP:0000411
9 coxa vara 31 occasional (7.5%) HP:0002812
10 situs inversus totalis 31 occasional (7.5%) HP:0001696
11 trigonocephaly 31 occasional (7.5%) HP:0000243
12 shawl scrotum 31 occasional (7.5%) HP:0000049
13 oxycephaly 31 occasional (7.5%) HP:0000263
14 postaxial polydactyly 31 occasional (7.5%) HP:0100259
15 narrow naris 31 occasional (7.5%) HP:0009933
16 sparse and thin eyebrow 31 occasional (7.5%) HP:0000535
17 micropenis 31 very rare (1%) HP:0000054
18 dextrocardia 31 very rare (1%) HP:0001651
19 transposition of the great arteries 31 very rare (1%) HP:0001669
20 high palate 31 HP:0000218
21 short neck 31 HP:0000470
22 global developmental delay 31 HP:0001263
23 depressed nasal bridge 31 HP:0005280
24 narrow palate 31 HP:0000189
25 hypertelorism 31 HP:0000316
26 wide nasal bridge 31 HP:0000431
27 pectus carinatum 31 HP:0000768
28 anteverted nares 31 HP:0000463
29 broad thumb 31 HP:0011304
30 cryptorchidism 31 HP:0000028
31 wide intermamillary distance 31 HP:0006610
32 low-set ears 31 HP:0000369
33 obesity 31 HP:0001513
34 epicanthus 31 HP:0000286
35 pectus excavatum 31 HP:0000767
36 talipes equinovarus 31 HP:0001762
37 upslanted palpebral fissure 31 HP:0000582
38 brachydactyly 31 HP:0001156
39 patent ductus arteriosus 31 HP:0001643
40 highly arched eyebrow 31 HP:0002553
41 craniosynostosis 31 HP:0001363
42 midface retrusion 31 HP:0011800
43 cutaneous finger syndactyly 31 HP:0010554
44 hypoplastic nipples 31 HP:0002557
45 supernumerary nipple 31 HP:0002558
46 cutis laxa 31 HP:0000973
47 camptodactyly 31 HP:0012385
48 preaxial polydactyly 31 HP:0100258
49 aplasia of the middle phalanx of the hand 31 HP:0010239

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck
webbed neck (rare)

Head And Neck Mouth:
narrow palate
high-arched palate

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Head And Neck Ears:
low-set ears
increased posterior angulation
protruding ears (rare)
hearing loss, sensorineural, mild (rare)

Skeletal Feet:
talipes equinovarus
brachydactyly
preaxial polydactyly
absent middle phalanges
syndactyly, cutaneous

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels (rare)

Cardiovascular Heart:
dextrocardia
atrial septal defect (rare)
tricuspid valve insufficiency (rare)

Skin Nails Hair Hair:
sparse eyebrows

Genitourinary External Genitalia Male:
small penis (rare)
shawl scrotum (rare)

Chest Diaphragm:
eventration of diaphragm
elevated right hemidiaphragm

Head And Neck Head:
acrocephaly (rare)
trigonocephaly (rare)
brachycephaly (rare)

Abdomen:
situs inversus totalis (rare)

Abdomen Spleen:
right-sided spleen (rare)

Skeletal Pelvis:
coxa vara (rare)

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
anteverted nares
narrow nares (rare)

Head And Neck Eyes:
hypertelorism
epicanthal folds
high-arched eyebrows
upslanting palpebral fissures
nasolacrimal duct obstruction due to ectropion of lower eyelids (rare)
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Weight:
obesity
increased birth weight

Skeletal Hands:
brachydactyly
camptodactyly
broad thumbs
absent middle phalanges
syndactyly, cutaneous
more
Head And Neck Face:
midface retrusion
retrognathia (rare)
frontal bossing (rare)

Chest Breasts:
hypoplastic nipples
accessory nipples
widely spaced nipples

Abdomen External Features:
umbilical hernia (rare)

Skin Nails Hair Skin:
loose skin

Neurologic Central Nervous System:
developmental delay, variable severity

Head And Neck Teeth:
multiple dental caries

Abdomen Liver:
left-sided liver (rare)
central position of liver

Skeletal Skull:
craniosynostosis (primarily metopic, but may also involve coronal or sagittal sutures)

Clinical features from OMIM®:

614976 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Carpenter Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.96 MEGF8 SEC24D
2 liver/biliary system MP:0005370 8.62 MEGF8 SEC24D

Drugs & Therapeutics for Carpenter Syndrome 2

Search Clinical Trials , NIH Clinical Center for Carpenter Syndrome 2

Genetic Tests for Carpenter Syndrome 2

Genetic tests related to Carpenter Syndrome 2:

# Genetic test Affiliating Genes
1 Carpenter Syndrome 2 29 MEGF8

Anatomical Context for Carpenter Syndrome 2

MalaCards organs/tissues related to Carpenter Syndrome 2:

40
Spleen, Liver

Publications for Carpenter Syndrome 2

Articles related to Carpenter Syndrome 2:

# Title Authors PMID Year
1
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 57 6
23063620 2012
2
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 61
30462379 2018

Variations for Carpenter Syndrome 2

ClinVar genetic disease variations for Carpenter Syndrome 2:

6 (show top 50) (show all 151)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MEGF8 NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) SNV Pathogenic 39845 rs397515427 GRCh37: 19:42861000-42861000
GRCh38: 19:42356848-42356848
2 MEGF8 NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) SNV Pathogenic 39846 rs397515428 GRCh37: 19:42879689-42879689
GRCh38: 19:42375537-42375537
3 MEGF8 NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) SNV Pathogenic 39847 rs397514621 GRCh37: 19:42841056-42841056
GRCh38: 19:42336904-42336904
4 MEGF8 G199R SNV Pathogenic 39848 GRCh37:
GRCh38:
5 MEGF8 NM_001271938.2(MEGF8):c.1788+1G>C SNV Pathogenic 561058 rs1206116606 GRCh37: 19:42848226-42848226
GRCh38: 19:42344074-42344074
6 MEGF8 NC_000019.10:g.(?_42370701)_(42370831_?)del Deletion Pathogenic 584047 GRCh37: 19:42874853-42874983
GRCh38: 19:42370701-42370831
7 MEGF8 NM_001271938.2(MEGF8):c.5176C>T (p.Arg1726Ter) SNV Pathogenic 1033837 GRCh37: 19:42862939-42862939
GRCh38: 19:42358787-42358787
8 MEGF8 NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) SNV Likely pathogenic 995802 GRCh37: 19:42839367-42839367
GRCh38: 19:42335215-42335215
9 MEGF8 NM_001271938.2(MEGF8):c.3351-2A>C SNV Likely pathogenic 931220 GRCh37: 19:42857078-42857078
GRCh38: 19:42352926-42352926
10 MEGF8 NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His) SNV Uncertain significance 934753 GRCh37: 19:42860500-42860500
GRCh38: 19:42356348-42356348
11 MEGF8 NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu) SNV Uncertain significance 935673 GRCh37: 19:42841341-42841341
GRCh38: 19:42337189-42337189
12 MEGF8 NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile) SNV Uncertain significance 937232 GRCh37: 19:42862950-42862950
GRCh38: 19:42358798-42358798
13 MEGF8 NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys) SNV Uncertain significance 938580 GRCh37: 19:42837847-42837847
GRCh38: 19:42333695-42333695
14 MEGF8 NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser) SNV Uncertain significance 941433 GRCh37: 19:42879741-42879741
GRCh38: 19:42375589-42375589
15 MEGF8 NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp) SNV Uncertain significance 942047 GRCh37: 19:42855816-42855816
GRCh38: 19:42351664-42351664
16 MEGF8 NM_001271938.2(MEGF8):c.262G>A (p.Val88Met) SNV Uncertain significance 945512 GRCh37: 19:42837831-42837831
GRCh38: 19:42333679-42333679
17 MEGF8 NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val) SNV Uncertain significance 946003 GRCh37: 19:42879981-42879981
GRCh38: 19:42375829-42375829
18 MEGF8 NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val) SNV Uncertain significance 946782 GRCh37: 19:42857181-42857181
GRCh38: 19:42353029-42353029
19 MEGF8 NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr) SNV Uncertain significance 950903 GRCh37: 19:42857180-42857180
GRCh38: 19:42353028-42353028
20 MEGF8 NM_001271938.2(MEGF8):c.351+4A>G SNV Uncertain significance 951748 GRCh37: 19:42837924-42837924
GRCh38: 19:42333772-42333772
21 MEGF8 NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His) SNV Uncertain significance 952346 GRCh37: 19:42867384-42867384
GRCh38: 19:42363232-42363232
22 MEGF8 NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr) SNV Uncertain significance 954762 GRCh37: 19:42880511-42880511
GRCh38: 19:42376359-42376359
23 MEGF8 NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser) SNV Uncertain significance 959227 GRCh37: 19:42880838-42880838
GRCh38: 19:42376686-42376686
24 MEGF8 NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His) SNV Uncertain significance 960808 GRCh37: 19:42866549-42866549
GRCh38: 19:42362397-42362397
25 MEGF8 NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys) SNV Uncertain significance 970018 GRCh37: 19:42879788-42879788
GRCh38: 19:42375636-42375636
26 MEGF8 NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) SNV Uncertain significance 560253 rs1471300485 GRCh37: 19:42872628-42872628
GRCh38: 19:42368476-42368476
27 MEGF8 NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) SNV Uncertain significance 560254 rs1174809027 GRCh37: 19:42873756-42873756
GRCh38: 19:42369604-42369604
28 MEGF8 NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln) SNV Uncertain significance 999356 GRCh37: 19:42880881-42880881
GRCh38: 19:42376729-42376729
29 MEGF8 NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu) SNV Uncertain significance 1000586 GRCh37: 19:42866286-42866286
GRCh38: 19:42362134-42362134
30 MEGF8 NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys) SNV Uncertain significance 1001234 GRCh37: 19:42848830-42848830
GRCh38: 19:42344678-42344678
31 MEGF8 NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys) SNV Uncertain significance 1006691 GRCh37: 19:42866559-42866559
GRCh38: 19:42362407-42362407
32 MEGF8 NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met) SNV Uncertain significance 1008904 GRCh37: 19:42857979-42857979
GRCh38: 19:42353827-42353827
33 MEGF8 NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys) SNV Uncertain significance 1020639 GRCh37: 19:42866330-42866330
GRCh38: 19:42362178-42362178
34 MEGF8 NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp) SNV Uncertain significance 1021349 GRCh37: 19:42839463-42839463
GRCh38: 19:42335311-42335311
35 MEGF8 NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=) SNV Uncertain significance 1023184 GRCh37: 19:42866694-42866694
GRCh38: 19:42362542-42362542
36 MEGF8 NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu) SNV Uncertain significance 1024296 GRCh37: 19:42857157-42857157
GRCh38: 19:42353005-42353005
37 MEGF8 NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys) SNV Uncertain significance 1025048 GRCh37: 19:42860499-42860499
GRCh38: 19:42356347-42356347
38 MEGF8 NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg) SNV Uncertain significance 1030393 GRCh37: 19:42855474-42855474
GRCh38: 19:42351322-42351322
39 MEGF8 NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr) SNV Uncertain significance 1030394 GRCh37: 19:42862307-42862307
GRCh38: 19:42358155-42358155
40 MEGF8 NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly) SNV Uncertain significance 1030395 GRCh37: 19:42874880-42874880
GRCh38: 19:42370728-42370728
41 MEGF8 NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) SNV Uncertain significance 800241 rs202039332 GRCh37: 19:42856412-42856412
GRCh38: 19:42352260-42352260
42 MEGF8 NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys) SNV Uncertain significance 1033836 GRCh37: 19:42860098-42860098
GRCh38: 19:42355946-42355946
43 MEGF8 NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met) SNV Uncertain significance 1036240 GRCh37: 19:42875549-42875549
GRCh38: 19:42371397-42371397
44 MEGF8 NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe) SNV Uncertain significance 423839 rs1064796651 GRCh37: 19:42840333-42840333
GRCh38: 19:42336181-42336181
45 MEGF8 NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala) SNV Uncertain significance 1044525 GRCh37: 19:42848857-42848857
GRCh38: 19:42344705-42344705
46 MEGF8 NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys) SNV Uncertain significance 1054776 GRCh37: 19:42862302-42862302
GRCh38: 19:42358150-42358150
47 MEGF8 NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu) SNV Uncertain significance 839640 GRCh37: 19:42880059-42880059
GRCh38: 19:42375907-42375907
48 MEGF8 NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln) SNV Uncertain significance 844099 GRCh37: 19:42872668-42872668
GRCh38: 19:42368516-42368516
49 MEGF8 NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met) SNV Uncertain significance 844100 GRCh37: 19:42880131-42880131
GRCh38: 19:42375979-42375979
50 MEGF8 NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys) SNV Uncertain significance 846217 GRCh37: 19:42861694-42861694
GRCh38: 19:42357542-42357542

UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 MEGF8 p.Gly199Arg VAR_069305
2 MEGF8 p.Arg1566His VAR_069306 rs397515427
3 MEGF8 p.Ser2434Gly VAR_069307 rs397515428

Expression for Carpenter Syndrome 2

Search GEO for disease gene expression data for Carpenter Syndrome 2.

Pathways for Carpenter Syndrome 2

GO Terms for Carpenter Syndrome 2

Sources for Carpenter Syndrome 2

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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