CRPT2
MCID: CRP022
MIFTS: 32

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 56 73 29 13 6 71
Crpt2 56 73
Carpenter Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable features present


HPO:

31
carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carpenter Syndrome 2

OMIM : 56 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)

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 heart, liver and spleen, and related phenotypes are frontal bossing and umbilical hernia

UniProtKB/Swiss-Prot : 73 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:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 2 12.6

Symptoms & Phenotypes for Carpenter Syndrome 2

Human phenotypes related to Carpenter Syndrome 2:

31 (showing 49, show less)
# 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 protruding ear 31 occasional (7.5%) HP:0000411
6 retrognathia 31 occasional (7.5%) HP:0000278
7 webbed neck 31 occasional (7.5%) HP:0000465
8 atrial septal defect 31 occasional (7.5%) HP:0001631
9 trigonocephaly 31 occasional (7.5%) HP:0000243
10 coxa vara 31 occasional (7.5%) HP:0002812
11 situs inversus totalis 31 occasional (7.5%) HP:0001696
12 shawl scrotum 31 occasional (7.5%) HP:0000049
13 narrow naris 31 occasional (7.5%) HP:0009933
14 postaxial polydactyly 31 occasional (7.5%) HP:0100259
15 oxycephaly 31 occasional (7.5%) HP:0000263
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 hypertelorism 31 HP:0000316
21 low-set ears 31 HP:0000369
22 short neck 31 HP:0000470
23 pectus excavatum 31 HP:0000767
24 obesity 31 HP:0001513
25 high palate 31 HP:0000218
26 global developmental delay 31 HP:0001263
27 depressed nasal bridge 31 HP:0005280
28 narrow palate 31 HP:0000189
29 wide nasal bridge 31 HP:0000431
30 pectus carinatum 31 HP:0000768
31 brachydactyly 31 HP:0001156
32 cryptorchidism 31 HP:0000028
33 craniosynostosis 31 HP:0001363
34 anteverted nares 31 HP:0000463
35 broad thumb 31 HP:0011304
36 midface retrusion 31 HP:0011800
37 highly arched eyebrow 31 HP:0002553
38 patent ductus arteriosus 31 HP:0001643
39 epicanthus 31 HP:0000286
40 wide intermamillary distance 31 HP:0006610
41 talipes equinovarus 31 HP:0001762
42 upslanted palpebral fissure 31 HP:0000582
43 cutaneous finger syndactyly 31 HP:0010554
44 hypoplastic nipples 31 HP:0002557
45 supernumerary nipple 31 HP:0002558
46 camptodactyly 31 HP:0012385
47 preaxial polydactyly 31 HP:0100258
48 cutis laxa 31 HP:0000973
49 aplasia of the middle phalanx of the hand 31 HP:0010239

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
epicanthal folds
high-arched eyebrows
upslanting palpebral fissures
nasolacrimal duct obstruction due to ectropion of lower eyelids (rare)
more
Head And Neck Neck:
short neck
webbed neck (rare)

Growth Weight:
obesity
increased birth weight

Head And Neck Mouth:
narrow palate
high-arched palate

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

Head And Neck Face:
midface retrusion
retrognathia (rare)
frontal bossing (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 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)

Neurologic Central Nervous System:
developmental delay, variable severity

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

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

Skeletal Hands:
brachydactyly
camptodactyly
broad thumbs
absent middle phalanges
syndactyly, cutaneous
more
Genitourinary Internal Genitalia Male:
cryptorchidism

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

Chest Breasts:
hypoplastic nipples
accessory nipples
widely spaced nipples

Abdomen External Features:
umbilical hernia (rare)

Skin Nails Hair Skin:
loose skin

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)

Clinical features from OMIM:

614976

MGI Mouse Phenotypes related to Carpenter Syndrome 2:

45 (showing 2, show less)
# 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
Heart, Liver, Spleen, Skin, Bone

Publications for Carpenter Syndrome 2

Articles related to Carpenter Syndrome 2:

(showing 3, show less)
# Title Authors PMID Year
1
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 56 6
23063620 2012
2
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. 6
25168863 2014
3
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 (showing 51, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MEGF8 NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His)SNV Pathogenic 39845 rs397515427 19:42861000-42861000 19:42356848-42356848
2 MEGF8 NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly)SNV Pathogenic 39846 rs397515428 19:42879689-42879689 19:42375537-42375537
3 MEGF8 NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter)SNV Pathogenic 39847 rs397514621 19:42841056-42841056 19:42336904-42336904
4 MEGF8 MEGF8, GLY199ARGSNV Pathogenic 39848
5 MEGF8 NM_001271938.2(MEGF8):c.1788+1G>CSNV Pathogenic 561058 rs1206116606 19:42848226-42848226 19:42344074-42344074
6 MEGF8 NC_000019.9:g.(?_42874853)_(42874983_?)deldeletion Pathogenic 584047 19:42874853-42874983 19:42370701-42370831
7 MEGF8 NM_001271938.2(MEGF8):c.1391-3C>TSNV Uncertain significance 571488 rs377586547 19:42841233-42841233 19:42337081-42337081
8 MEGF8 NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)SNV Uncertain significance 567834 rs746031284 19:42854453-42854453 19:42350301-42350301
9 MEGF8 NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe)SNV Uncertain significance 571142 rs1568568653 19:42859949-42859949 19:42355797-42355797
10 MEGF8 NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala)SNV Uncertain significance 565484 rs139192223 19:42879956-42879956 19:42375804-42375804
11 MEGF8 NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)SNV Uncertain significance 650742 19:42839457-42839457 19:42335305-42335305
12 MEGF8 NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)SNV Uncertain significance 660567 19:42840107-42840107 19:42335955-42335955
13 MEGF8 NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)SNV Uncertain significance 645690 19:42840119-42840119 19:42335967-42335967
14 MEGF8 NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu)SNV Uncertain significance 664813 19:42857190-42857190 19:42353038-42353038
15 MEGF8 NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)SNV Uncertain significance 646497 19:42860334-42860334 19:42356182-42356182
16 MEGF8 NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr)SNV Uncertain significance 649987 19:42861017-42861017 19:42356865-42356865
17 MEGF8 NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val)SNV Uncertain significance 650260 19:42874440-42874440 19:42370288-42370288
18 MEGF8 NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln)SNV Uncertain significance 663864 19:42880083-42880083 19:42375931-42375931
19 MEGF8 NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp)SNV Uncertain significance 647652 19:42880198-42880198 19:42376046-42376046
20 MEGF8 NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=)SNV Uncertain significance 646982 19:42880876-42880876 19:42376724-42376724
21 MEGF8 NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu)SNV Uncertain significance 561155 rs781096678 19:42856518-42856518 19:42352366-42352366
22 MEGF8 NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)SNV Uncertain significance 561156 rs772768716 19:42872643-42872643 19:42368491-42368491
23 MEGF8 NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)SNV Uncertain significance 569536 rs777017134 19:42854489-42854489 19:42350337-42350337
24 MEGF8 NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)SNV Uncertain significance 578584 rs201180083 19:42840173-42840173 19:42336021-42336021
25 MEGF8 NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met)SNV Uncertain significance 575246 rs372990477 19:42840278-42840278 19:42336126-42336126
26 MEGF8 NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)SNV Uncertain significance 577904 rs151116615 19:42853802-42853802 19:42349650-42349650
27 MEGF8 NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val)SNV Uncertain significance 565908 rs913420234 19:42861581-42861581 19:42357429-42357429
28 MEGF8 NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)SNV Uncertain significance 566132 rs372350131 19:42873013-42873013 19:42368861-42368861
29 MEGF8 NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met)SNV Uncertain significance 569417 rs73033442 19:42874895-42874895 19:42370743-42370743
30 MEGF8 NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu)SNV Uncertain significance 473332 rs765654107 19:42838235-42838235 19:42334083-42334083
31 MEGF8 NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp)SNV Uncertain significance 473331 rs1229026252 19:42860087-42860087 19:42355935-42355935
32 MEGF8 NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala)SNV Uncertain significance 473337 rs779853780 19:42867205-42867205 19:42363053-42363053
33 MEGF8 NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His)SNV Uncertain significance 473345 rs757739507 19:42879789-42879789 19:42375637-42375637
34 MEGF8 NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp)SNV Uncertain significance 473350 rs1555785144 19:42880446-42880446 19:42376294-42376294
35 MEGF8 NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser)SNV Uncertain significance 473353 rs914088074 19:42880911-42880911 19:42376759-42376759
36 MEGF8 NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val)SNV Uncertain significance 473334 rs150607375 19:42863044-42863044 19:42358892-42358892
37 MEGF8 NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln)SNV Uncertain significance 473347 rs754329335 19:42880020-42880020 19:42375868-42375868
38 MEGF8 NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe)SNV Uncertain significance 540547 rs1555781030 19:42848725-42848725 19:42344573-42344573
39 MEGF8 NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp)SNV Uncertain significance 546842 rs141383715 19:42855822-42855822 19:42351670-42351670
40 MEGF8 NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser)SNV Uncertain significance 560253 rs1471300485 19:42872628-42872628 19:42368476-42368476
41 MEGF8 NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys)SNV Uncertain significance 560254 rs1174809027 19:42873756-42873756 19:42369604-42369604
42 MEGF8 NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=)SNV Likely benign 473329 rs373710119 19:42858038-42858038 19:42353886-42353886
43 MEGF8 NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=)SNV Likely benign 540549 rs754666704 19:42874472-42874472 19:42370320-42370320
44 MEGF8 NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=)SNV Likely benign 540554 rs150486662 19:42880282-42880282 19:42376130-42376130
45 MEGF8 NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)SNV Benign 473335 rs116630802 19:42863381-42863381 19:42359229-42359229
46 MEGF8 NM_001271938.2(MEGF8):c.352-4G>ASNV Benign 473327 rs143955737 19:42838155-42838155 19:42334003-42334003
47 MEGF8 NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=)SNV Benign 473330 rs35473255 19:42858748-42858748 19:42354596-42354596
48 MEGF8 NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)SNV Benign 473333 rs149279834 19:42861016-42861016 19:42356864-42356864
49 MEGF8 NM_001271938.2(MEGF8):c.3351-3C>TSNV Benign 473325 rs10411498 19:42857077-42857077 19:42352925-42352925
50 MEGF8 NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)SNV Benign 473338 rs547635717 19:42867225-42867225 19:42363073-42363073
51 MEGF8 NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)SNV Benign 473343 rs112167630 19:42874901-42874901 19:42370749-42370749

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

73 (showing 3, show less)
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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