CRPT2
MCID: CRP022
MIFTS: 31

Carpenter Syndrome 2 (CRPT2) malady

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

Aliases & Classifications for Carpenter Syndrome 2

Aliases & Descriptions for Carpenter Syndrome 2:

Name: Carpenter Syndrome 2 54 24 66 29 13 69
Crpt2 66

Characteristics:

HPO:

32
carpenter syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614976
MeSH 42 D000168

Summaries for Carpenter Syndrome 2

OMIM : 54 Carpenter syndrome-2 is an autosomal recessive multiple congenital malformation disorder characterized by multisuture... (614976) more...

MalaCards based summary : Carpenter Syndrome 2, also known as crpt2, is related to cole-carpenter syndrome 2 and carpenter syndrome, and has symptoms including hypertelorism, low-set ears and short neck. An important gene associated with Carpenter Syndrome 2 is MEGF8 (Multiple EGF Like Domains 8). The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 66 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 Carpenter Syndrome family:

Carpenter Syndrome 2 Say Carpenter Syndrome

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

id Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 2 12.2
2 carpenter syndrome 10.9
3 acat2 deficiency 9.8 MEGF8 SEC24D
4 dystonia-12 9.7 MEGF8 SEC24D

Symptoms & Phenotypes for Carpenter Syndrome 2

Symptoms by clinical synopsis from OMIM:

614976

Clinical features from OMIM:

614976

Human phenotypes related to Carpenter Syndrome 2:

32 (show all 45)
id 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 HP:0002007
7 high palate 32 HP:0000218
8 narrow palate 32 HP:0000189
9 depressed nasal bridge 32 HP:0005280
10 wide nasal bridge 32 HP:0000431
11 pectus carinatum 32 HP:0000768
12 umbilical hernia 32 HP:0001537
13 anteverted nares 32 HP:0000463
14 broad thumb 32 HP:0011304
15 brachycephaly 32 HP:0000248
16 retrognathia 32 HP:0000278
17 patent ductus arteriosus 32 HP:0001643
18 epicanthus 32 HP:0000286
19 cryptorchidism 32 HP:0000028
20 wide intermamillary distance 32 HP:0006610
21 webbed neck 32 HP:0000465
22 protruding ear 32 HP:0000411
23 upslanted palpebral fissure 32 HP:0000582
24 brachydactyly syndrome 32 HP:0001156
25 talipes equinovarus 32 HP:0001762
26 midface retrusion 32 HP:0011800
27 highly arched eyebrow 32 HP:0002553
28 craniosynostosis 32 HP:0001363
29 cutaneous finger syndactyly 32 HP:0010554
30 coxa vara 32 HP:0002812
31 situs inversus totalis 32 HP:0001696
32 hypoplastic nipples 32 HP:0002557
33 transposition of the great arteries 32 HP:0001669
34 trigonocephaly 32 HP:0000243
35 micropenis 32 HP:0000054
36 supernumerary nipple 32 HP:0002558
37 shawl scrotum 32 HP:0000049
38 camptodactyly 32 HP:0012385
39 aplasia of the middle phalanx of the hand 32 HP:0010239
40 cutis laxa 32 HP:0000973
41 oxycephaly 32 HP:0000263
42 postaxial polydactyly 32 HP:0100259
43 preaxial polydactyly 32 HP:0100258
44 atrial septal defect 32 HP:0001631
45 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Carpenter Syndrome 2

Drugs for Carpenter Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 209)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 1,Phase 2 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
6
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
7
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
8 Antirheumatic Agents Phase 4,Phase 2
9 Antipsychotic Agents Phase 4,Phase 3,Phase 2
10 Central Nervous System Depressants Phase 4,Phase 3,Phase 1,Phase 2
11 Psychotropic Drugs Phase 4,Phase 3,Phase 2
12 Quetiapine Fumarate Phase 4 111974-72-2
13 Tranquilizing Agents Phase 4,Phase 3
14 Dopamine Agents Phase 4,Phase 1,Phase 2
15 Dopamine Antagonists Phase 4
16 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
17
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
18 Serotonin Agents Phase 4,Phase 3
19 Serotonin Antagonists Phase 4
20 Antiemetics Phase 4,Phase 3,Phase 2
21 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
23 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
24 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
25 Serotonin Uptake Inhibitors Phase 4,Phase 3
26 Analgesics Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Anti-Inflammatory Agents Phase 4,Phase 2
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4
30 Antipyretics Phase 4
31 Cyclooxygenase 2 Inhibitors Phase 4
32 Cyclooxygenase Inhibitors Phase 4
33 aripiprazole lauroxil Phase 4 49831411
34 Dopamine D2 Receptor Antagonists Phase 4
35 Paliperidone Palmitate Phase 4
36 Serotonin 5-HT2 Receptor Antagonists Phase 4
37
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
38
Cycloserine Approved Phase 2, Phase 3 68-41-7 401 6234
39
Sulfamethoxazole Approved Phase 3 723-46-6 5329
40
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
41
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
42
Biotin Approved, Nutraceutical Phase 2, Phase 3 58-85-5 171548
43
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
46
Niacin Approved, Investigational, Nutraceutical Phase 2, Phase 3 59-67-6 938
47
Nicotinamide Approved, Nutraceutical Phase 2, Phase 3 98-92-0 936
48
Pyridoxal Approved, Nutraceutical Phase 2, Phase 3 66-72-8 1050
49
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 65-23-6 1054
50
Riboflavin Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 83-88-5 493570

Interventional clinical trials:

(show top 50) (show all 51)
id Name Status NCT ID Phase
1 Seroquel® Combined With Cognitive Remediation Therapy to Conventional Treatment in Patients With Schizophrenia Completed NCT00255515 Phase 4
2 Observational Study in Patients With Schizophrenia Treated With Long-Acting Risperidone Injection (RISPERDAL CONSTA) Completed NCT00246194 Phase 4
3 Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder Completed NCT00100776 Phase 4
4 Correlation Between Acute Analgesia and Long-Term Function Following Ankle Injuries Recruiting NCT02667730 Phase 4
5 A Study of Aripiprazole Lauroxil (Also Known as ARISTADA TM) in Subjects With Schizophrenia Active, not recruiting NCT02634320 Phase 4
6 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
7 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3
8 Adjunctive Treatment for Decreasing Symptoms of Schizophrenia Completed NCT00222235 Phase 2, Phase 3
9 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3
10 Open-Label Study of Intramuscular Olanzapine Depot in Patients With Schizophrenia or Schizoaffective Disorder Completed NCT00088465 Phase 3
11 Achieving Better Control for Older Adults With Asthma Recruiting NCT01979055 Phase 2, Phase 3
12 Framing Eighteen Coils in Cerebral Aneurysms Trial Recruiting NCT01655784 Phase 3
13 Multi-center Trial of Revlimid® and Rituximab, for First-Line Treatment of Chronic Lymphocytic Leukemia (CLL) Unknown status NCT00628238 Phase 2
14 Therapy for Locally Advanced Breast Cancer Using Doxil, Paclitaxel, and Cyclophosphamide With Avastin Completed NCT00635050 Phase 2
15 Oxytocin or Galantamine Versus Placebo for the Treatment of Negative Symptoms and Cognitive Impairments in Schizophrenia Completed NCT01012167 Phase 2
16 Nilotinib and Imatinib Mesylate After Donor Stem Cell Transplant in Treating Patients With ALL or CML Completed NCT00702403 Phase 1, Phase 2
17 Sirolimus as Secondary Therapy in Chronic Graft-Versus-Host Disease Not Responding To Prior Treatment Completed NCT00079183 Phase 2
18 Venlafaxine for Hot Flashes After Breast Cancer Completed NCT00198250 Phase 2
19 Alemtuzumab and Glucocorticoids in Treating Newly Diagnosed Acute Graft-Versus-Host Disease in Patients Who Have Undergone a Donor Stem Cell Transplant Completed NCT00410657 Phase 2
20 Effect of Verb Network Strengthening Treatment (VNeST) on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
21 Imatinib Mesylate After a Donor Stem Cell Transplant in Treating Patients With Philadelphia Chromosome-Positive Leukemia Completed NCT00244829 Phase 1, Phase 2
22 Online Stress Management and Coping Skills Training for Women With Breast Cancer Completed NCT01335152 Phase 1, Phase 2
23 A Study to Determine the Safety, Tolerability and Efficacy NW-3509A in Patients With Chronic Schizophrenia Completed NCT02624167 Phase 2
24 Psychosexual Intervention in Patients With Stage I-III Gynecologic or Breast Cancer Recruiting NCT01764802 Phase 2
25 NeoSync TMS Treatment for Bipolar I Depression Recruiting NCT02839798 Phase 2
26 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2
27 A Sequenced Behavioral and Medication Intervention for Cocaine Dependence Recruiting NCT01986075 Phase 1, Phase 2
28 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
29 Safety and Efficacy of Varying Regimens of CANDIN for Treatment of Common Warts (Verruca Vulgaris) Active, not recruiting NCT02393417 Phase 2
30 Proof-of-Concept Trial of CERC-501 Augmentation of Antidepressant Therapy in Treatment-Resistant Depression Terminated NCT01913535 Phase 2
31 A Phase 1 Safety Study of LY2127399 in Combination With Bortezomib Completed NCT00689507 Phase 1
32 Gestational Diabetes Diagnostic Methods Completed NCT01540396
33 A Novel Treatment to Boost Quit Attempts and Cessation Among Unmotivated Smokers Completed NCT00706979
34 Graduated Recovery Intervention Program for Enhancing Treatment for First-Episode Psychosis Completed NCT00307216
35 The Role of Serotonin in Hot Flashes After Breast Cancer Completed NCT00228943
36 Breathe for Hot Flashes Randomized Controlled Trial Completed NCT00819182
37 ENLaCE Pilot Study Completed NCT01641211
38 MsFLASH-02: Interventions for Relief of Menopausal Symptoms: A 3-by-2 Factorial Design Examining Yoga, Exercise, and Omega-3 Supplementation Completed NCT01178892
39 Effects of Vitamin D Dose and Genotype of the Binding Protein in Infants and Children Completed NCT01050387
40 Anti-Inflammatory Treatment of Schizophrenia Completed NCT01514682
41 Mind/Body Stress Management to Improve Outcomes in Workplace Weight Loss Programs Completed NCT02198196
42 Memory Training Intervention for Breast Cancer Survivors Completed NCT01497015
43 MsFLASH-03: Comparative Efficacy of Low-Dose Estradiol and Venlafaxine XR for Treatment of Menopausal Symptoms Completed NCT01418209
44 Comparison of Two Screening Strategies for Gestational Diabetes (GDM2) Recruiting NCT02309138
45 Motivational Negative Symptoms in Schizophrenia: Intervention and Biomarkers Recruiting NCT02386605
46 Early Screen and Treatment for Gestational Diabetes Recruiting NCT02377531
47 Intraoperative Boost Radiotherapy With Electrons (IOERT) Followed By Hypofractionated Whole-Breast Irradiation (WBRT) Recruiting NCT01295723
48 ATHN 2: Factor Switching Study Recruiting NCT02546622
49 DELTA Trial: Does Embolization With Larger Coils Lead to Better Treatment of Aneurysms Trial Recruiting NCT01943591
50 A Trial of E-cigarettes in Current Cigarette Smokers Active, not recruiting NCT02357173

Search NIH Clinical Center for Carpenter Syndrome 2

Genetic Tests for Carpenter Syndrome 2

Genetic tests related to Carpenter Syndrome 2:

id Genetic test Affiliating Genes
1 Carpenter Syndrome 2 29 24 MEGF8

Anatomical Context for Carpenter Syndrome 2

MalaCards organs/tissues related to Carpenter Syndrome 2:

39
Heart

Publications for Carpenter Syndrome 2

Variations for Carpenter Syndrome 2

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

66
id 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
id 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.7099A> G (p.Ser2367Gly) single nucleotide variant Pathogenic rs397515428 GRCh37 Chromosome 19, 42879689: 42879689
3 MEGF8 NM_001410.2(MEGF8): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs397514621 GRCh37 Chromosome 19, 42841056: 42841056
4 MEGF8 MEGF8, GLY199ARG single nucleotide variant Pathogenic

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....