CRPT1
MCID: CRP007
MIFTS: 51

Carpenter Syndrome (CRPT1) malady

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

Aliases & Classifications for Carpenter Syndrome

Aliases & Descriptions for Carpenter Syndrome:

Name: Carpenter Syndrome 54 12 50 25 56 66 29 13 14
Acrocephalopolysyndactyly Type Ii 12 24 25 66 42
Carpenter Syndrome 1 50 24 66 29
Acrocephalopolysyndactyly Type 2 50 56 69
Acps Ii 24 25 66
Crpt1 50 24 66
Acps2 24 56 66
Acrocephalosyndactyly, Type Ii 50 25
Acrocephalopolysyndactyly 2 25 66
Acps 2 50 24
Type Ii Acrocephalosyndactyly 25
Apert-Crouzon Disease 69
Acpsii 24

Characteristics:

Orphanet epidemiological data:

56
carpenter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

HPO:

32
carpenter syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 201000
Disease Ontology 12 DOID:0060234
NCIt 47 C98873
Orphanet 56 ORPHA65759
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 70 C1275078
UMLS 69 C1275078

Summaries for Carpenter Syndrome

NIH Rare Diseases : 50 carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. the features in affected people vary. craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. carpenter syndrome can be caused by mutations in the rab23 or megf8 gene and is inherited in an autosomal recessive manner. treatment focuses on the specific features in each affected person. life expectancy is shortened but very variable. last updated: 2/5/2015

MalaCards based summary : Carpenter Syndrome, also known as acrocephalopolysyndactyly type ii, is related to cole-carpenter syndrome 1 and carpenter syndrome 2, and has symptoms including obesity, genu valgum and finger syndactyly. An important gene associated with Carpenter Syndrome is RAB23 (RAB23, Member RAS Oncogene Family), and among its related pathways/superpathways is Hedgehog Pathway. The drugs Glyburide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and brain, and related phenotypes are embryo and mortality/aging

UniProtKB/Swiss-Prot : 66 Carpenter syndrome 1: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed.

Genetics Home Reference : 25 Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.

OMIM : 54 Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable... (201000) more...

Disease Ontology : 12 An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.

Wikipedia : 71 Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal... more...

Related Diseases for Carpenter Syndrome

Diseases in the Carpenter Syndrome family:

Carpenter Syndrome 2 Say Carpenter Syndrome

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 1 12.2
2 carpenter syndrome 2 12.1
3 cole-carpenter syndrome 2 12.1
4 cole-carpenter syndrome 12.0
5 miles-carpenter syndrome 11.9
6 say carpenter syndrome 11.7
7 proud syndrome 11.0
8 dystonia-12 10.1 MEGF8 SEC24D
9 cerebritis 9.7
10 schizophrenia 9.7
11 obesity 9.7
12 tetralogy of fallot 9.7
13 summitt syndrome 9.7
14 craniosynostosis 9.7
15 stromal dystrophy 9.4 CRTAP P4HB SEC24D SOX3
16 acat2 deficiency 8.7 CRTAP KIF7 MEGF8 P4HB RAB23 RTL1

Graphical network of the top 20 diseases related to Carpenter Syndrome:



Diseases related to Carpenter Syndrome

Symptoms & Phenotypes for Carpenter Syndrome

Symptoms by clinical synopsis from OMIM:

201000

Clinical features from OMIM:

201000

Human phenotypes related to Carpenter Syndrome:

56 32 (show top 50) (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 56 32 Very frequent (99-80%) HP:0001513
2 genu valgum 56 32 Frequent (79-30%) HP:0002857
3 finger syndactyly 56 32 Obligate (100%) HP:0006101
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
6 broad thumb 56 32 Frequent (79-30%) HP:0011304
7 cloverleaf skull 56 32 Frequent (79-30%) HP:0002676
8 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
9 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
10 brachydactyly syndrome 56 32 Obligate (100%) HP:0001156
11 talipes equinovarus 56 32 Occasional (29-5%) HP:0001762
12 craniosynostosis 56 32 Very frequent (99-80%) HP:0001363
13 toe syndactyly 56 32 Obligate (100%) HP:0001770
14 postaxial hand polydactyly 56 32 Frequent (79-30%) HP:0001162
15 kyphoscoliosis 56 32 Occasional (29-5%) HP:0002751
16 polysplenia 56 32 Occasional (29-5%) HP:0001748
17 preaxial foot polydactyly 56 32 Frequent (79-30%) HP:0001841
18 external genital hypoplasia 56 32 Very frequent (99-80%) HP:0003241
19 oxycephaly 56 32 Very frequent (99-80%) HP:0000263
20 abnormality of the cornea 56 32 Frequent (79-30%) HP:0000481
21 malar flattening 32 HP:0000272
22 low-set ears 32 HP:0000369
23 short neck 32 HP:0000470
24 high palate 32 HP:0000218
25 precocious puberty 32 HP:0000826
26 scoliosis 32 HP:0002650
27 depressed nasal bridge 32 HP:0005280
28 sensorineural hearing impairment 32 HP:0000407
29 optic atrophy 32 HP:0000648
30 short stature 32 HP:0004322
31 brachycephaly 32 HP:0000248
32 micrognathia 32 HP:0000347
33 opacification of the corneal stroma 32 HP:0007759
34 coxa valga 32 HP:0002673
35 epicanthus 32 HP:0000286
36 metatarsus adductus 32 HP:0001840
37 abnormality of the skull 56 Very frequent (99-80%)
38 abnormality of the pinna 32 HP:0000377
39 telecanthus 32 HP:0000506
40 clinodactyly of the 5th finger 32 HP:0004209
41 coronal craniosynostosis 32 HP:0004440
42 hypoplasia of the maxilla 32 HP:0000327
43 conductive hearing impairment 32 HP:0000405
44 tetralogy of fallot 32 HP:0001636
45 turricephaly 56 Frequent (79-30%)
46 ventricular septal defect 32 HP:0001629
47 genu varum 32 HP:0002970
48 sacral dimple 32 HP:0000960
49 pulmonic stenosis 32 HP:0001642
50 spina bifida occulta 32 HP:0003298

MGI Mouse Phenotypes related to Carpenter Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 KIF7 MEGF8 RAB23 RTL1 SOX3
2 mortality/aging MP:0010768 9.5 KIF7 MEGF8 P4HB RAB23 RTL1 SEC24D
3 skeleton MP:0005390 9.02 CRTAP KIF7 MEGF8 RAB23 SOX3

Drugs & Therapeutics for Carpenter Syndrome

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

(show top 50) (show all 233)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4 10238-21-8 3488
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Eszopiclone Approved Phase 4 138729-47-2 969472
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
5
Dopamine Approved Phase 4,Phase 1,Phase 2 51-61-6, 62-31-7 681
6
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
7
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
8
Acetaminophen Approved Phase 4 103-90-2 1983
9
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
10
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
11
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
12 Antirheumatic Agents Phase 4,Phase 2
13 Antipsychotic Agents Phase 4,Phase 3,Phase 2
14 Central Nervous System Depressants Phase 4,Phase 3,Phase 1,Phase 2
15 Psychotropic Drugs Phase 4,Phase 3,Phase 2
16 Quetiapine Fumarate Phase 4 111974-72-2
17 Tranquilizing Agents Phase 4,Phase 3
18 Hypoglycemic Agents Phase 4
19 Anti-Inflammatory Agents Phase 4,Phase 2
20 Cortisol succinate Phase 4
21 Hydrocortisone 17-butyrate 21-propionate Phase 4
22 Hydrocortisone acetate Phase 4
23 Hypnotics and Sedatives Phase 4
24 Dopamine Agents Phase 4,Phase 1,Phase 2
25 Dopamine Antagonists Phase 4
26 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
27
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
28 Serotonin Agents Phase 4,Phase 3
29 Serotonin Antagonists Phase 4
30 Antiemetics Phase 4,Phase 3,Phase 2
31 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
33 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Serotonin Uptake Inhibitors Phase 4,Phase 3
36 Analgesics Phase 4
37 Analgesics, Non-Narcotic Phase 4
38 Anti-Inflammatory Agents, Non-Steroidal Phase 4
39 Antipyretics Phase 4
40 Cyclooxygenase 2 Inhibitors Phase 4
41 Cyclooxygenase Inhibitors Phase 4
42 aripiprazole lauroxil Phase 4 49831411
43 Dopamine D2 Receptor Antagonists Phase 4
44 Paliperidone Palmitate Phase 4
45 Serotonin 5-HT2 Receptor Antagonists Phase 4
46
Cycloserine Approved Phase 2, Phase 3 68-41-7 401 6234
47
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 5460373 44475014
48
Sulfamethoxazole Approved Phase 3 723-46-6 5329
49
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
50
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793

Interventional clinical trials:

(show top 50) (show all 85)
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 A Comparison Between Two Oral Hypoglycemics - Metformin and Glybenclamide for the Treatment of Gestational Diabetes Mellitus Completed NCT01563120 Phase 4
3 Eszopiclone Treatment & Cortisol Responsivity Completed NCT00889200 Phase 4
4 Observational Study in Patients With Schizophrenia Treated With Long-Acting Risperidone Injection (RISPERDAL CONSTA) Completed NCT00246194 Phase 4
5 Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder Completed NCT00100776 Phase 4
6 Correlation Between Acute Analgesia and Long-Term Function Following Ankle Injuries Recruiting NCT02667730 Phase 4
7 A Study of Aripiprazole Lauroxil (Also Known as ARISTADA TM) in Subjects With Schizophrenia Active, not recruiting NCT02634320 Phase 4
8 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
9 D-Serine Treatment of Negative Symptoms and Cognitive Deficits in Schizophrenia Completed NCT00237809 Phase 3
10 Adjunctive Treatment for Decreasing Symptoms of Schizophrenia Completed NCT00222235 Phase 2, Phase 3
11 D-Serine for Enhancing Cognitive Retraining for the Treatment of Schizophrenia Completed NCT00237848 Phase 3
12 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3
13 Olanzapine Pamoate Depot Versus Oral Olanzapine on Treatment Outcomes in Outpatients With Schizophrenia Completed NCT00320489 Phase 3
14 Open-Label Study of Intramuscular Olanzapine Depot in Patients With Schizophrenia or Schizoaffective Disorder Completed NCT00088465 Phase 3
15 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3
16 Achieving Better Control for Older Adults With Asthma Recruiting NCT01979055 Phase 2, Phase 3
17 Early Surgery or Standard Palliative Therapy in Treating Patients With Stage IV Breast Cancer Recruiting NCT01242800 Phase 3
18 Evaluation of the Duration of Therapy for Thrombosis in Children Recruiting NCT00687882 Phase 3
19 The Augmented Versus Routine Approach to Giving Energy Trial Recruiting NCT02306746 Phase 3
20 Framing Eighteen Coils in Cerebral Aneurysms Trial Recruiting NCT01655784 Phase 3
21 Multi-center Trial of Revlimid® and Rituximab, for First-Line Treatment of Chronic Lymphocytic Leukemia (CLL) Unknown status NCT00628238 Phase 2
22 Nilotinib and Imatinib Mesylate After Donor Stem Cell Transplant in Treating Patients With ALL or CML Completed NCT00702403 Phase 1, Phase 2
23 Sirolimus as Secondary Therapy in Chronic Graft-Versus-Host Disease Not Responding To Prior Treatment Completed NCT00079183 Phase 2
24 Therapy for Locally Advanced Breast Cancer Using Doxil, Paclitaxel, and Cyclophosphamide With Avastin Completed NCT00635050 Phase 2
25 Oxytocin or Galantamine Versus Placebo for the Treatment of Negative Symptoms and Cognitive Impairments in Schizophrenia Completed NCT01012167 Phase 2
26 Venlafaxine for Hot Flashes After Breast Cancer Completed NCT00198250 Phase 2
27 Effect of Verb Network Strengthening Treatment (VNeST) on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
28 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
29 Imatinib Mesylate After a Donor Stem Cell Transplant in Treating Patients With Philadelphia Chromosome-Positive Leukemia Completed NCT00244829 Phase 1, Phase 2
30 Online Stress Management and Coping Skills Training for Women With Breast Cancer Completed NCT01335152 Phase 1, Phase 2
31 A Study to Determine the Safety, Tolerability and Efficacy NW-3509A in Patients With Chronic Schizophrenia Completed NCT02624167 Phase 2
32 NeoSync TMS Treatment for Bipolar I Depression Recruiting NCT02839798 Phase 2
33 Psychosexual Intervention in Patients With Stage I-III Gynecologic or Breast Cancer Recruiting NCT01764802 Phase 2
34 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2
35 A Sequenced Behavioral and Medication Intervention for Cocaine Dependence Recruiting NCT01986075 Phase 1, Phase 2
36 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
37 Safety and Efficacy of Varying Regimens of CANDIN for Treatment of Common Warts (Verruca Vulgaris) Active, not recruiting NCT02393417 Phase 2
38 Proof-of-Concept Trial of CERC-501 Augmentation of Antidepressant Therapy in Treatment-Resistant Depression Terminated NCT01913535 Phase 2
39 Gulf War Illness: Evaluation of an Innovative Detoxification Program Completed NCT01672710 Phase 1
40 Benefits Management for People With Psychiatric Disabilities Completed NCT01329393 Phase 1
41 A Phase 1 Safety Study of LY2127399 in Combination With Bortezomib Completed NCT00689507 Phase 1
42 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1
43 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1
44 MANAGE Automated Glucose Monitoring Unknown status NCT02211300
45 Promoting Smoking Cessation in Carpenters Completed NCT01878214
46 Gestational Diabetes Diagnostic Methods Completed NCT01540396
47 Effects of Vitamin D Dose and Genotype of the Binding Protein in Infants and Children Completed NCT01050387
48 The Role of Serotonin in Hot Flashes After Breast Cancer Completed NCT00228943
49 ENLaCE Pilot Study Completed NCT01641211
50 rTMS for PTSD Comorbid With Major Depressive Disorder Completed NCT02273063

Search NIH Clinical Center for Carpenter Syndrome

Cochrane evidence based reviews: acrocephalopolysyndactyly type ii

Genetic Tests for Carpenter Syndrome

Genetic tests related to Carpenter Syndrome:

id Genetic test Affiliating Genes
1 Carpenter Syndrome 29
2 Carpenter Syndrome 1 29 24 RAB23

Anatomical Context for Carpenter Syndrome

MalaCards organs/tissues related to Carpenter Syndrome:

39
Heart, Bone, Brain

Publications for Carpenter Syndrome

Articles related to Carpenter Syndrome:

(show all 37)
id Title Authors Year
1
CRTAP mutation in a patient with Cole-Carpenter syndrome. ( 25604815 )
2015
2
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. ( 25683117 )
2015
3
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. ( 24458945 )
2014
4
Carpenter syndrome: a review for the craniofacial surgeon. ( 25162549 )
2014
5
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. ( 25168863 )
2014
6
A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family. ( 23599695 )
2013
7
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. ( 23706836 )
2013
8
Carpenter syndrome: a case report. ( 22828559 )
2012
9
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. ( 23063620 )
2012
10
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. ( 21412941 )
2011
11
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. ( 20358613 )
2010
12
Carpenter syndrome. ( 19165041 )
2009
13
Sudden death in a child with Carpenter Syndrome. Case report and literature review. ( 19924577 )
2009
14
Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). ( 19076584 )
2008
15
Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. ( 18317146 )
2008
16
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. ( 17503333 )
2007
17
The carpenter syndrome phenotype. ( 15129947 )
2004
18
Association of schizophrenia and Carpenter syndrome. ( 26983661 )
2003
19
Oral findings in Carpenter syndrome. ( 11572266 )
2001
20
New case of Cole-Carpenter syndrome. ( 10842295 )
2000
21
Refined gene localization for the Miles-Carpenter syndrome (MCS) ( 10398232 )
1999
22
Carpenter syndrome: report of two siblings. ( 9689991 )
1998
23
A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. ( 9237506 )
1997
24
Prenatal sonographic diagnosis of Carpenter syndrome. ( 7837341 )
1994
25
Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester. ( 7795371 )
1994
26
Cerebral malformations in Carpenter syndrome. ( 8352858 )
1993
27
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents. ( 8213921 )
1993
28
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? ( 1642806 )
1992
29
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. ( 2309763 )
1990
30
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. ( 3322002 )
1987
31
Carpenter syndrome: natural history and clinical spectrum. ( 3993675 )
1985
32
Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome). ( 7119093 )
1982
33
Carpenter syndrome with normal intelligence and precocious growth. ( 7270272 )
1981
34
Carpenter syndrome (ACPS-II). ( 6260733 )
1980
35
Normal intelligence in two children with Carpenter syndrome. ( 263437 )
1978
36
Carpenter syndrome--acrocephalopolysyndactyly type II. ( 4370930 )
1974
37
Acrocephalopolysyndactyly, type II (Carpenter syndrome). ( 5085485 )
1972

Variations for Carpenter Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 RAB23 p.Cys85Arg VAR_034902
2 RAB23 p.Met12Lys VAR_065294

ClinVar genetic disease variations for Carpenter Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RAB23 NM_183227.2(RAB23): c.434T> A (p.Leu145Ter) single nucleotide variant Pathogenic rs121908171 GRCh37 Chromosome 6, 57059615: 57059615
2 RAB23 RAB23, 1-BP INS, 408T insertion Pathogenic
3 RAB23 RAB23, 1-BP DUP, 86A duplication Pathogenic
4 RAB23 NM_016277.4(RAB23): c.481G> C (p.Val161Leu) single nucleotide variant Pathogenic rs1060505026 GRCh37 Chromosome 6, 57059568: 57059568

Expression for Carpenter Syndrome

Search GEO for disease gene expression data for Carpenter Syndrome.

Pathways for Carpenter Syndrome

Pathways related to Carpenter Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.73 KIF7 RAB23

GO Terms for Carpenter Syndrome

Biological processes related to Carpenter Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 craniofacial suture morphogenesis GO:0097094 8.62 MEGF8 RAB23

Sources for Carpenter Syndrome

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
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