MCID: CRP022
MIFTS: 27

Carpenter Syndrome 2

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

Aliases & Classifications for Carpenter Syndrome 2

MalaCards integrated aliases for Carpenter Syndrome 2:

Name: Carpenter Syndrome 2 57 75 29 13 6 73
Crpt2 57 75
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:



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 hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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 12.3

Symptoms & Phenotypes for Carpenter Syndrome 2

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)

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

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 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

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

Abdomen:
situs inversus totalis (rare)

AbdomenSpleen:
right-sided spleen (rare)

Skeletal Pelvis:
coxa vara (rare)


Clinical features from OMIM:

614976

Human phenotypes related to Carpenter Syndrome 2:

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

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

Variations for Carpenter Syndrome 2

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

75
# 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

ClinVar genetic disease variations for Carpenter Syndrome 2:

6
(show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 MEGF8 NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His) single nucleotide variant Pathogenic rs397515427 GRCh37 Chromosome 19, 42861000: 42861000
2 MEGF8 NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His) single nucleotide variant Pathogenic rs397515427 GRCh38 Chromosome 19, 42356848: 42356848
3 MEGF8 NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly) single nucleotide variant Pathogenic rs397515428 GRCh37 Chromosome 19, 42879689: 42879689
4 MEGF8 NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly) single nucleotide variant Pathogenic rs397515428 GRCh38 Chromosome 19, 42375537: 42375537
5 MEGF8 NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs397514621 GRCh37 Chromosome 19, 42841056: 42841056
6 MEGF8 NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs397514621 GRCh38 Chromosome 19, 42336904: 42336904
7 MEGF8 MEGF8, GLY199ARG single nucleotide variant Pathogenic
8 MEGF8 NM_001410.2(MEGF8): c.7472C> T (p.Pro2491Leu) single nucleotide variant Likely benign rs147216997 GRCh37 Chromosome 19, 42880062: 42880062
9 MEGF8 NM_001410.2(MEGF8): c.7472C> T (p.Pro2491Leu) single nucleotide variant Likely benign rs147216997 GRCh38 Chromosome 19, 42375910: 42375910
10 MEGF8 NM_001410.2(MEGF8): c.428C> T (p.Pro143Leu) single nucleotide variant Uncertain significance rs765654107 GRCh38 Chromosome 19, 42334083: 42334083
11 MEGF8 NM_001410.2(MEGF8): c.428C> T (p.Pro143Leu) single nucleotide variant Uncertain significance rs765654107 GRCh37 Chromosome 19, 42838235: 42838235
12 MEGF8 NM_001410.2(MEGF8): c.4121G> A (p.Gly1374Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 42355935: 42355935
13 MEGF8 NM_001410.2(MEGF8): c.4121G> A (p.Gly1374Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42860087: 42860087
14 MEGF8 NM_001410.2(MEGF8): c.5433C> T (p.Arg1811=) single nucleotide variant Benign rs62648096 GRCh37 Chromosome 19, 42865072: 42865072
15 MEGF8 NM_001410.2(MEGF8): c.5433C> T (p.Arg1811=) single nucleotide variant Benign rs62648096 GRCh38 Chromosome 19, 42360920: 42360920
16 MEGF8 NM_001410.2(MEGF8): c.5863A> G (p.Thr1955Ala) single nucleotide variant Uncertain significance rs779853780 GRCh37 Chromosome 19, 42867205: 42867205
17 MEGF8 NM_001410.2(MEGF8): c.5863A> G (p.Thr1955Ala) single nucleotide variant Uncertain significance rs779853780 GRCh38 Chromosome 19, 42363053: 42363053
18 MEGF8 NM_001410.2(MEGF8): c.6375G> A (p.Thr2125=) single nucleotide variant Benign rs10425783 GRCh38 Chromosome 19, 42368937: 42368937
19 MEGF8 NM_001410.2(MEGF8): c.6375G> A (p.Thr2125=) single nucleotide variant Benign rs10425783 GRCh37 Chromosome 19, 42873089: 42873089
20 MEGF8 NM_001410.2(MEGF8): c.6888C> T (p.Cys2296=) single nucleotide variant Likely benign rs138235390 GRCh37 Chromosome 19, 42874936: 42874936
21 MEGF8 NM_001410.2(MEGF8): c.6888C> T (p.Cys2296=) single nucleotide variant Likely benign rs138235390 GRCh38 Chromosome 19, 42370784: 42370784
22 MEGF8 NM_001410.2(MEGF8): c.7530C> T (p.Tyr2510=) single nucleotide variant Benign rs3745237 GRCh38 Chromosome 19, 42375968: 42375968
23 MEGF8 NM_001410.2(MEGF8): c.7530C> T (p.Tyr2510=) single nucleotide variant Benign rs3745237 GRCh37 Chromosome 19, 42880120: 42880120
24 MEGF8 NM_001410.2(MEGF8): c.1791T> C (p.Cys597=) single nucleotide variant Likely benign rs777831498 GRCh37 Chromosome 19, 42848595: 42848595
25 MEGF8 NM_001410.2(MEGF8): c.1791T> C (p.Cys597=) single nucleotide variant Likely benign rs777831498 GRCh38 Chromosome 19, 42344443: 42344443
26 MEGF8 NM_001410.2(MEGF8): c.3150-3C> T single nucleotide variant Benign rs10411498 GRCh37 Chromosome 19, 42857077: 42857077
27 MEGF8 NM_001410.2(MEGF8): c.3150-3C> T single nucleotide variant Benign rs10411498 GRCh38 Chromosome 19, 42352925: 42352925
28 MEGF8 NM_001410.2(MEGF8): c.5883G> A (p.Val1961=) single nucleotide variant Benign rs547635717 GRCh38 Chromosome 19, 42363073: 42363073
29 MEGF8 NM_001410.2(MEGF8): c.5883G> A (p.Val1961=) single nucleotide variant Benign rs547635717 GRCh37 Chromosome 19, 42867225: 42867225
30 MEGF8 NM_001410.2(MEGF8): c.6852C> T (p.Cys2284=) single nucleotide variant Benign rs28483598 GRCh37 Chromosome 19, 42874900: 42874900
31 MEGF8 NM_001410.2(MEGF8): c.6852C> T (p.Cys2284=) single nucleotide variant Benign rs28483598 GRCh38 Chromosome 19, 42370748: 42370748
32 MEGF8 NM_001410.2(MEGF8): c.6853G> A (p.Val2285Met) single nucleotide variant Benign rs112167630 GRCh37 Chromosome 19, 42874901: 42874901
33 MEGF8 NM_001410.2(MEGF8): c.6853G> A (p.Val2285Met) single nucleotide variant Benign rs112167630 GRCh38 Chromosome 19, 42370749: 42370749
34 MEGF8 NM_001410.2(MEGF8): c.7199G> A (p.Arg2400His) single nucleotide variant Uncertain significance rs757739507 GRCh37 Chromosome 19, 42879789: 42879789
35 MEGF8 NM_001410.2(MEGF8): c.7199G> A (p.Arg2400His) single nucleotide variant Uncertain significance rs757739507 GRCh38 Chromosome 19, 42375637: 42375637
36 MEGF8 NM_001410.2(MEGF8): c.7504G> A (p.Val2502Ile) single nucleotide variant Likely benign rs147133204 GRCh38 Chromosome 19, 42375942: 42375942
37 MEGF8 NM_001410.2(MEGF8): c.7504G> A (p.Val2502Ile) single nucleotide variant Likely benign rs147133204 GRCh37 Chromosome 19, 42880094: 42880094
38 MEGF8 NM_001410.2(MEGF8): c.7856T> G (p.Leu2619Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 42376294: 42376294
39 MEGF8 NM_001410.2(MEGF8): c.7856T> G (p.Leu2619Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42880446: 42880446
40 MEGF8 NM_001410.2(MEGF8): c.357G> A (p.Leu119=) single nucleotide variant Benign rs115536529 GRCh38 Chromosome 19, 42334012: 42334012
41 MEGF8 NM_001410.2(MEGF8): c.357G> A (p.Leu119=) single nucleotide variant Benign rs115536529 GRCh37 Chromosome 19, 42838164: 42838164
42 MEGF8 NM_001410.2(MEGF8): c.1197C> T (p.Pro399=) single nucleotide variant Benign rs149190709 GRCh38 Chromosome 19, 42336299: 42336299
43 MEGF8 NM_001410.2(MEGF8): c.1197C> T (p.Pro399=) single nucleotide variant Benign rs149190709 GRCh37 Chromosome 19, 42840451: 42840451
44 MEGF8 NM_001410.2(MEGF8): c.2832C> T (p.Thr944=) single nucleotide variant Likely benign rs145216125 GRCh38 Chromosome 19, 42351693: 42351693
45 MEGF8 NM_001410.2(MEGF8): c.2832C> T (p.Thr944=) single nucleotide variant Likely benign rs145216125 GRCh37 Chromosome 19, 42855845: 42855845
46 MEGF8 NM_001410.2(MEGF8): c.3819C> T (p.Tyr1273=) single nucleotide variant Benign rs35473255 GRCh37 Chromosome 19, 42858748: 42858748
47 MEGF8 NM_001410.2(MEGF8): c.3819C> T (p.Tyr1273=) single nucleotide variant Benign rs35473255 GRCh38 Chromosome 19, 42354596: 42354596
48 MEGF8 NM_001410.2(MEGF8): c.4512C> T (p.Ala1504=) single nucleotide variant Benign rs149279834 GRCh38 Chromosome 19, 42356864: 42356864
49 MEGF8 NM_001410.2(MEGF8): c.4512C> T (p.Ala1504=) single nucleotide variant Benign rs149279834 GRCh37 Chromosome 19, 42861016: 42861016
50 MEGF8 NM_001410.2(MEGF8): c.7220G> A (p.Arg2407His) single nucleotide variant Likely benign rs45623135 GRCh38 Chromosome 19, 42375658: 42375658

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

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