MCID: CRP022
MIFTS: 12

Carpenter Syndrome 2 malady

Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases, Immune diseases categories
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Summaries for Carpenter Syndrome 2

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MalaCards based summary: Carpenter Syndrome 2 and has symptoms including An important gene associated with Carpenter Syndrome 2 is MEGF8 (multiple EGF-like-domains 8). Affiliated tissues include heart.

Description from OMIM:46 614976

Aliases & Classifications for Carpenter Syndrome 2

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Carpenter Syndrome 2, Aliases & Descriptions:

Name: Carpenter Syndrome 2 46 62


Classifications:



Related Diseases for Carpenter Syndrome 2

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Diseases in the Carpenter Syndrome family:

Say Carpenter Syndrome Carpenter Syndrome 1
carpenter syndrome 2

Symptoms for Carpenter Syndrome 2

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Symptoms by clinical synopsis from OMIM:

614976

Clinical features from OMIM:

614976

HPO human phenotypes related to Carpenter Syndrome 2:

(show all 45)
id Description Frequency HPO Source Accession
1 shawl scrotum rare (5%) HP:0000049
2 micropenis rare (5%) HP:0000054
3 trigonocephaly rare (5%) HP:0000243
4 brachycephaly rare (5%) HP:0000248
5 oxycephaly rare (5%) HP:0000263
6 retrognathia rare (5%) HP:0000278
7 protruding ear rare (5%) HP:0000411
8 webbed neck rare (5%) HP:0000465
9 sparse eyebrow rare (5%) HP:0000535
10 umbilical hernia rare (5%) HP:0001537
11 defect in the atrial septum rare (5%) HP:0001631
12 transposition of the great arteries rare (5%) HP:0001669
13 situs inversus totalis rare (5%) HP:0001696
14 frontal bossing rare (5%) HP:0002007
15 coxa vara rare (5%) HP:0002812
16 postaxial polydactyly rare (5%) HP:0100259
17 autosomal recessive inheritance HP:0000007
18 cryptorchidism HP:0000028
19 narrow palate HP:0000189
20 high palate HP:0000218
21 epicanthus HP:0000286
22 hypertelorism HP:0000316
23 low-set ears HP:0000369
24 wide nasal bridge HP:0000431
25 anteverted nares HP:0000463
26 short neck HP:0000470
27 sparse eyebrow HP:0000535
28 upslanted palpebral fissure HP:0000582
29 pectus excavatum HP:0000767
30 pectus carinatum HP:0000768
31 cutis laxa HP:0000973
32 obesity HP:0001513
33 patent ductus arteriosus HP:0001643
34 talipes equinovarus HP:0001762
35 highly arched eyebrow HP:0002553
36 hypoplastic nipples HP:0002557
37 supernumerary nipples HP:0002558
38 depressed nasal bridge HP:0005280
39 wide intermamillary distance HP:0006610
40 aplasia of the middle phalanx of the hand HP:0010239
41 cutaneous finger syndactyly HP:0010554
42 broad thumb HP:0011304
43 midface retrusion HP:0011800
44 camptodactyly HP:0012385
45 preaxial polydactyly HP:0100258

Drugs & Therapeutics for Carpenter Syndrome 2

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Drug clinical trials:

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Search NIH Clinical Center for Carpenter Syndrome 2

Genetic Tests for Carpenter Syndrome 2

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Anatomical Context for Carpenter Syndrome 2

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MalaCards organs/tissues related to Carpenter Syndrome 2:

32
Heart

Animal Models for Carpenter Syndrome 2 or affiliated genes

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Publications for Carpenter Syndrome 2

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Variations for Carpenter Syndrome 2

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

64
id Symbol AA change Variation ID SNP ID
1MEGF8p.Gly199ArgVAR_069305
2MEGF8p.Arg1566HisVAR_069306
3MEGF8p.Ser2434GlyVAR_069307

Clinvar genetic disease variations for Carpenter Syndrome 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1MEGF8NM_001410.2(MEGF8): c.4496G> A (p.Arg1499His)single nucleotide variantPathogenicrs397515427GRCh37Chr 19, 42861000: 42861000
2MEGF8NM_001410.2(MEGF8): c.7099A> G (p.Ser2367Gly)single nucleotide variantPathogenicrs397515428GRCh37Chr 19, 42879689: 42879689
3MEGF8NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs397514621GRCh37Chr 19, 42841056: 42841056
4MEGF8MEGF8, GLY199ARGsingle nucleotide variantPathogenic

Expression for genes affiliated with Carpenter Syndrome 2

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Expression patterns in normal tissues for genes affiliated with Carpenter Syndrome 2

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

Pathways for genes affiliated with Carpenter Syndrome 2

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Compounds for genes affiliated with Carpenter Syndrome 2

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GO Terms for genes affiliated with Carpenter Syndrome 2

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Products for genes affiliated with Carpenter Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Carpenter Syndrome 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet