CRPT2
MCID: CRP022
MIFTS: 29

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 74 29 13 6 72
Crpt2 57 74
Carpenter Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features present


HPO:

32
carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D000168
UMLS 72 C3554247

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)

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 skin, and related phenotypes are frontal bossing and umbilical hernia

UniProtKB/Swiss-Prot : 74 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:

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

Symptoms via clinical synopsis from OMIM:

57
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 Nose:
depressed nasal bridge
wide nasal bridge
anteverted nares
narrow nares (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
brachydactyly
camptodactyly
broad thumbs
absent middle phalanges
syndactyly, cutaneous
more
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 Mouth:
narrow palate
high-arched palate

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

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

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

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

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:

41
Heart, Liver, Skin, Spleen

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. 8 71
23063620 2012
2
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. 71
25168863 2014
3
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 38
30462379 2018

Variations for Carpenter Syndrome 2

ClinVar genetic disease variations for Carpenter Syndrome 2:

6 (showing 78, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MEGF8 NM_001410.3(MEGF8): c.1788+1G> C single nucleotide variant Pathogenic 19:42848226-42848226 19:42344074-42344074
2 MEGF8 NC_000019.9: g.(?_42874853)_(42874983_?)del deletion Pathogenic 19:42874853-42874983 19:42370701-42370831
3 MEGF8 NM_001410.3(MEGF8): c.4496G> A (p.Arg1499His) single nucleotide variant Pathogenic rs397515427 19:42861000-42861000 19:42356848-42356848
4 MEGF8 NM_001410.3(MEGF8): c.7099A> G (p.Ser2367Gly) single nucleotide variant Pathogenic rs397515428 19:42879689-42879689 19:42375537-42375537
5 MEGF8 NM_001410.3(MEGF8): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs397514621 19:42841056-42841056 19:42336904-42336904
6 MEGF8 MEGF8, GLY199ARG single nucleotide variant Pathogenic
7 MEGF8 NM_001410.3(MEGF8): c.1391-3C> T single nucleotide variant Uncertain significance 19:42841233-42841233 19:42337081-42337081
8 MEGF8 NM_001410.3(MEGF8): c.2452G> A (p.Gly818Arg) single nucleotide variant Uncertain significance 19:42854453-42854453 19:42350301-42350301
9 MEGF8 NM_001410.3(MEGF8): c.3983C> T (p.Ser1328Phe) single nucleotide variant Uncertain significance 19:42859949-42859949 19:42355797-42355797
10 MEGF8 NM_001410.3(MEGF8): c.7366A> G (p.Thr2456Ala) single nucleotide variant Uncertain significance 19:42879956-42879956 19:42375804-42375804
11 MEGF8 NM_001410.3(MEGF8): c.748C> T (p.Leu250Phe) single nucleotide variant Uncertain significance 19:42839457-42839457 19:42335305-42335305
12 MEGF8 NM_001410.3(MEGF8): c.853G> A (p.Val285Met) single nucleotide variant Uncertain significance 19:42840107-42840107 19:42335955-42335955
13 MEGF8 NM_001410.3(MEGF8): c.865G> A (p.Gly289Ser) single nucleotide variant Uncertain significance 19:42840119-42840119 19:42335967-42335967
14 MEGF8 NM_001410.3(MEGF8): c.3260C> T (p.Pro1087Leu) single nucleotide variant Uncertain significance 19:42857190-42857190 19:42353038-42353038
15 MEGF8 NM_001410.3(MEGF8): c.4291C> T (p.Arg1431Cys) single nucleotide variant Uncertain significance 19:42860334-42860334 19:42356182-42356182
16 MEGF8 NM_001410.3(MEGF8): c.4513G> A (p.Ala1505Thr) single nucleotide variant Uncertain significance 19:42861017-42861017 19:42356865-42356865
17 MEGF8 NM_001410.3(MEGF8): c.6733A> G (p.Ile2245Val) single nucleotide variant Uncertain significance 19:42874440-42874440 19:42370288-42370288
18 MEGF8 NM_001410.3(MEGF8): c.7493G> A (p.Arg2498Gln) single nucleotide variant Uncertain significance 19:42880083-42880083 19:42375931-42375931
19 MEGF8 NM_001410.3(MEGF8): c.7608G> T (p.Glu2536Asp) single nucleotide variant Uncertain significance 19:42880198-42880198 19:42376046-42376046
20 MEGF8 NM_001410.3(MEGF8): c.8286G> A (p.Ala2762=) single nucleotide variant Uncertain significance 19:42880876-42880876 19:42376724-42376724
21 MEGF8 NM_001410.3(MEGF8): c.3059C> T (p.Pro1020Leu) single nucleotide variant Uncertain significance 19:42856518-42856518 19:42352366-42352366
22 MEGF8 NM_001410.3(MEGF8): c.6109G> T (p.Ala2037Ser) single nucleotide variant Uncertain significance 19:42872643-42872643 19:42368491-42368491
23 MEGF8 NM_001410.3(MEGF8): c.2809C> T (p.Arg937Trp) single nucleotide variant Uncertain significance rs141383715 19:42855822-42855822 19:42351670-42351670
24 MEGF8 NM_001410.3(MEGF8): c.6094C> T (p.Pro2032Ser) single nucleotide variant Uncertain significance 19:42872628-42872628 19:42368476-42368476
25 MEGF8 NM_001410.3(MEGF8): c.6514C> T (p.Arg2172Cys) single nucleotide variant Uncertain significance 19:42873756-42873756 19:42369604-42369604
26 MEGF8 NM_001410.3(MEGF8): c.2488C> T (p.Leu830Phe) single nucleotide variant Uncertain significance 19:42854489-42854489 19:42350337-42350337
27 MEGF8 NM_001410.3(MEGF8): c.5323G> C (p.Val1775Leu) single nucleotide variant Uncertain significance 19:42864962-42864962 19:42360810-42360810
28 MEGF8 NM_001410.3(MEGF8): c.919G> A (p.Val307Met) single nucleotide variant Uncertain significance 19:42840173-42840173 19:42336021-42336021
29 MEGF8 NM_001410.3(MEGF8): c.1024G> A (p.Val342Met) single nucleotide variant Uncertain significance 19:42840278-42840278 19:42336126-42336126
30 MEGF8 NM_001410.3(MEGF8): c.2249A> G (p.His750Arg) single nucleotide variant Uncertain significance 19:42853802-42853802 19:42349650-42349650
31 MEGF8 NM_001410.3(MEGF8): c.4655C> T (p.Ala1552Val) single nucleotide variant Uncertain significance 19:42861581-42861581 19:42357429-42357429
32 MEGF8 NM_001410.3(MEGF8): c.6299C> T (p.Pro2100Leu) single nucleotide variant Uncertain significance 19:42873013-42873013 19:42368861-42368861
33 MEGF8 NM_001410.3(MEGF8): c.6847G> A (p.Val2283Met) single nucleotide variant Uncertain significance 19:42874895-42874895 19:42370743-42370743
34 MEGF8 NM_001410.3(MEGF8): c.428C> T (p.Pro143Leu) single nucleotide variant Uncertain significance rs765654107 19:42838235-42838235 19:42334083-42334083
35 MEGF8 NM_001410.3(MEGF8): c.4121G> A (p.Gly1374Asp) single nucleotide variant Uncertain significance rs1229026252 19:42860087-42860087 19:42355935-42355935
36 MEGF8 NM_001410.3(MEGF8): c.5863A> G (p.Thr1955Ala) single nucleotide variant Uncertain significance rs779853780 19:42867205-42867205 19:42363053-42363053
37 MEGF8 NM_001410.3(MEGF8): c.7199G> A (p.Arg2400His) single nucleotide variant Uncertain significance rs757739507 19:42879789-42879789 19:42375637-42375637
38 MEGF8 NM_001410.3(MEGF8): c.7856T> G (p.Leu2619Trp) single nucleotide variant Uncertain significance rs1555785144 19:42880446-42880446 19:42376294-42376294
39 MEGF8 NM_001410.3(MEGF8): c.8321C> G (p.Thr2774Ser) single nucleotide variant Uncertain significance rs914088074 19:42880911-42880911 19:42376759-42376759
40 MEGF8 NM_001410.3(MEGF8): c.5080C> G (p.Leu1694Val) single nucleotide variant Uncertain significance rs150607375 19:42863044-42863044 19:42358892-42358892
41 MEGF8 NM_001410.3(MEGF8): c.7430G> A (p.Arg2477Gln) single nucleotide variant Uncertain significance rs754329335 19:42880020-42880020 19:42375868-42375868
42 MEGF8 NM_001410.3(MEGF8): c.1921C> T (p.Leu641Phe) single nucleotide variant Uncertain significance rs1555781030 19:42848725-42848725 19:42344573-42344573
43 MEGF8 NM_001410.3(MEGF8): c.4806C> A (p.Pro1602=) single nucleotide variant Likely benign rs755932452 19:42861732-42861732 19:42357580-42357580
44 MEGF8 NM_001410.3(MEGF8): c.3597C> T (p.Arg1199=) single nucleotide variant Likely benign rs750232469 19:42857963-42857963 19:42353811-42353811
45 MEGF8 NM_001410.3(MEGF8): c.8070C> T (p.Pro2690=) single nucleotide variant Likely benign rs755400663 19:42880660-42880660 19:42376508-42376508
46 MEGF8 NM_001410.3(MEGF8): c.2448T> C (p.Asp816=) single nucleotide variant Likely benign rs757551016 19:42854449-42854449 19:42350297-42350297
47 MEGF8 NM_001410.3(MEGF8): c.7220G> A (p.Arg2407His) single nucleotide variant Likely benign rs45623135 19:42879810-42879810 19:42375658-42375658
48 MEGF8 NM_001410.3(MEGF8): c.3672G> A (p.Gly1224=) single nucleotide variant Likely benign rs373710119 19:42858038-42858038 19:42353886-42353886
49 MEGF8 NM_001410.3(MEGF8): c.2832C> T (p.Thr944=) single nucleotide variant Likely benign rs145216125 19:42855845-42855845 19:42351693-42351693
50 MEGF8 NM_001410.3(MEGF8): c.7504G> A (p.Val2502Ile) single nucleotide variant Likely benign rs147133204 19:42880094-42880094 19:42375942-42375942
51 MEGF8 NM_001410.3(MEGF8): c.6888C> T (p.Cys2296=) single nucleotide variant Likely benign rs138235390 19:42874936-42874936 19:42370784-42370784
52 MEGF8 NM_001410.3(MEGF8): c.1791T> C (p.Cys597=) single nucleotide variant Likely benign rs777831498 19:42848595-42848595 19:42344443-42344443
53 MEGF8 NM_001410.3(MEGF8): c.6954C> T (p.His2318=) single nucleotide variant Likely benign rs775919574 19:42875520-42875520 19:42371368-42371368
54 MEGF8 NM_001410.3(MEGF8): c.246G> T (p.Thr82=) single nucleotide variant Likely benign rs369259465 19:42837815-42837815 19:42333663-42333663
55 MEGF8 NM_001410.3(MEGF8): c.6765C> T (p.Ser2255=) single nucleotide variant Likely benign rs754666704 19:42874472-42874472 19:42370320-42370320
56 MEGF8 NM_001410.3(MEGF8): c.7692C> G (p.Ala2564=) single nucleotide variant Likely benign rs150486662 19:42880282-42880282 19:42376130-42376130
57 MEGF8 NM_001410.3(MEGF8): c.7472C> T (p.Pro2491Leu) single nucleotide variant Likely benign rs147216997 19:42880062-42880062 19:42375910-42375910
58 MEGF8 NM_001410.3(MEGF8): c.3150-3C> T single nucleotide variant Benign rs10411498 19:42857077-42857077 19:42352925-42352925
59 MEGF8 NM_001410.3(MEGF8): c.5883G> A (p.Val1961=) single nucleotide variant Benign rs547635717 19:42867225-42867225 19:42363073-42363073
60 MEGF8 NM_001410.3(MEGF8): c.6852C> T (p.Cys2284=) single nucleotide variant Benign rs28483598 19:42874900-42874900 19:42370748-42370748
61 MEGF8 NM_001410.3(MEGF8): c.6375G> A (p.Thr2125=) single nucleotide variant Benign rs10425783 19:42873089-42873089 19:42368937-42368937
62 MEGF8 NM_001410.3(MEGF8): c.5433C> T (p.Arg1811=) single nucleotide variant Benign rs62648096 19:42865072-42865072 19:42360920-42360920
63 MEGF8 NM_001410.3(MEGF8): c.7530C> T (p.Tyr2510=) single nucleotide variant Benign rs3745237 19:42880120-42880120 19:42375968-42375968
64 MEGF8 NM_001410.3(MEGF8): c.6853G> A (p.Val2285Met) single nucleotide variant Benign rs112167630 19:42874901-42874901 19:42370749-42370749
65 MEGF8 NM_001410.3(MEGF8): c.3819C> T (p.Tyr1273=) single nucleotide variant Benign rs35473255 19:42858748-42858748 19:42354596-42354596
66 MEGF8 NM_001410.3(MEGF8): c.4512C> T (p.Ala1504=) single nucleotide variant Benign rs149279834 19:42861016-42861016 19:42356864-42356864
67 MEGF8 NM_001410.3(MEGF8): c.357G> A (p.Leu119=) single nucleotide variant Benign rs115536529 19:42838164-42838164 19:42334012-42334012
68 MEGF8 NM_001410.3(MEGF8): c.1197C> T (p.Pro399=) single nucleotide variant Benign rs149190709 19:42840451-42840451 19:42336299-42336299
69 MEGF8 NM_001410.3(MEGF8): c.352-4G> A single nucleotide variant Benign rs143955737 19:42838155-42838155 19:42334003-42334003
70 MEGF8 NM_001410.3(MEGF8): c.3232C> T (p.Leu1078=) single nucleotide variant Benign rs115335139 19:42857162-42857162 19:42353010-42353010
71 MEGF8 NM_001410.3(MEGF8): c.5274G> A (p.Leu1758=) single nucleotide variant Benign rs116630802 19:42863381-42863381 19:42359229-42359229
72 MEGF8 NM_001410.3(MEGF8): c.6440+9G> A single nucleotide variant Benign rs112519292 19:42873163-42873163 19:42369011-42369011
73 MEGF8 NM_001410.3(MEGF8): c.6840C> T (p.Asp2280=) single nucleotide variant Benign rs145886667 19:42874888-42874888 19:42370736-42370736
74 MEGF8 NM_001410.3(MEGF8): c.4641C> T (p.Thr1547=) single nucleotide variant Benign rs35468447 19:42861567-42861567 19:42357415-42357415
75 MEGF8 NM_001410.3(MEGF8): c.1902C> T (p.Cys634=) single nucleotide variant Benign rs150535071 19:42848706-42848706 19:42344554-42344554
76 MEGF8 NM_001410.3(MEGF8): c.402C> T (p.Asn134=) single nucleotide variant Benign rs117439608 19:42838209-42838209 19:42334057-42334057
77 MEGF8 NM_001410.3(MEGF8): c.8136C> T (p.Gly2712=) single nucleotide variant Benign rs115428796 19:42880726-42880726 19:42376574-42376574
78 MEGF8 NM_001410.3(MEGF8): c.8225G> A (p.Arg2742Lys) single nucleotide variant Benign rs11881304 19:42880815-42880815 19:42376663-42376663

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

74 (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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....