CRPT1
MCID: CRP023
MIFTS: 59

Carpenter Syndrome 1 (CRPT1)

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

Aliases & Classifications for Carpenter Syndrome 1

MalaCards integrated aliases for Carpenter Syndrome 1:

Name: Carpenter Syndrome 1 58 54 76 30 6
Carpenter Syndrome 58 12 77 54 26 60 76 38 30 13 6 15
Acrocephalopolysyndactyly Type Ii 58 12 26 76 45
Acrocephalopolysyndactyly Type 2 54 60 74
Acps Ii 58 26 76
Crpt1 58 54 76
Acrocephalosyndactyly, Type Ii 54 26
Acrocephalopolysyndactyly 2 26 76
Acps2 60 76
Type Ii Acrocephalosyndactyly 26
Carpenter Syndrome, Type 1 41
Apert-Crouzon Disease 74
Acps 2 54

Characteristics:

Orphanet epidemiological data:

60
carpenter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
carpenter syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carpenter Syndrome 1

NIH Rare Diseases : 54 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.

MalaCards based summary : Carpenter Syndrome 1, also known as carpenter syndrome, is related to cole-carpenter syndrome and cole-carpenter syndrome 1. An important gene associated with Carpenter Syndrome 1 is RAB23 (RAB23, Member RAS Oncogene Family), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog Pathway. The drugs Metformin and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and breast, and related phenotypes are finger syndactyly and brachydactyly

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

Genetics Home Reference : 26 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 : 58 Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of 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 (summary by Altunhan et al., 2011). (201000)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal... more...

Related Diseases for Carpenter Syndrome 1

Diseases in the Say Carpenter Syndrome family:

Carpenter Syndrome 1 Carpenter Syndrome 2

Diseases related to Carpenter Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 12.6
2 cole-carpenter syndrome 1 12.5
3 carpenter syndrome 2 12.5
4 cole-carpenter syndrome 2 12.4
5 miles-carpenter syndrome 12.3
6 say carpenter syndrome 12.0
7 corpus callosum, agenesis of, with abnormal genitalia 11.4
8 kleeblattschaedel 11.1
9 schizophrenia 9.9
10 tetralogy of fallot 9.9
11 summitt syndrome 9.9
12 craniosynostosis 9.9

Graphical network of the top 20 diseases related to Carpenter Syndrome 1:



Diseases related to Carpenter Syndrome 1

Symptoms & Phenotypes for Carpenter Syndrome 1

Human phenotypes related to Carpenter Syndrome 1:

60 33 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 obligate (100%) Obligate (100%) HP:0006101
2 brachydactyly 60 33 obligate (100%) Obligate (100%) HP:0001156
3 toe syndactyly 60 33 obligate (100%) Obligate (100%) HP:0001770
4 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
5 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
6 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
7 craniosynostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001363
8 external genital hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003241
9 oxycephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000263
10 genu valgum 60 33 frequent (33%) Frequent (79-30%) HP:0002857
11 broad thumb 60 33 frequent (33%) Frequent (79-30%) HP:0011304
12 cloverleaf skull 60 33 frequent (33%) Frequent (79-30%) HP:0002676
13 postaxial hand polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001162
14 preaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001841
15 abnormal cornea morphology 33 frequent (33%) HP:0000481
16 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
17 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
18 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
19 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
20 polysplenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001748
21 malar flattening 33 HP:0000272
22 low-set ears 33 HP:0000369
23 short neck 33 HP:0000470
24 high palate 33 HP:0000218
25 precocious puberty 33 HP:0000826
26 scoliosis 33 HP:0002650
27 depressed nasal bridge 33 HP:0005280
28 sensorineural hearing impairment 33 HP:0000407
29 optic atrophy 33 HP:0000648
30 short stature 33 HP:0004322
31 brachycephaly 33 HP:0000248
32 micrognathia 33 HP:0000347
33 opacification of the corneal stroma 33 HP:0007759
34 coxa valga 33 HP:0002673
35 epicanthus 33 HP:0000286
36 metatarsus adductus 33 HP:0001840
37 atrial septal defect 33 HP:0001631
38 abnormality of the skull 60 Very frequent (99-80%)
39 abnormality of the pinna 33 HP:0000377
40 telecanthus 33 HP:0000506
41 clinodactyly of the 5th finger 33 HP:0004209
42 coronal craniosynostosis 33 HP:0004440
43 hypoplasia of the maxilla 33 HP:0000327
44 conductive hearing impairment 33 HP:0000405
45 tetralogy of fallot 33 HP:0001636
46 turricephaly 60 Frequent (79-30%)
47 ventricular septal defect 33 HP:0001629
48 genu varum 33 HP:0002970
49 sacral dimple 33 HP:0000960
50 pulmonic stenosis 33 HP:0001642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
conductive hearing loss
preauricular pits
sensorineural hearing loss
malformed ears

Skeletal Limbs:
genu valgum
lateral displacement of patellae

Endocrine Features:
precocious puberty

Head And Neck Eyes:
corneal opacity
optic atrophy
microcornea
epicanthal folds
lateral displacement of medial canthi

Head And Neck Head:
brachycephaly

Skeletal Pelvis:
coxa valga
decreased hip-joint mobility
flared ilia

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
pulmonic stenosis

Genitourinary Ureters:
hydroureter

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
flat nasal bridge

Growth Height:
short stature (<25th percentile)

Head And Neck Neck:
short muscular neck

Neurologic Central Nervous System:
variable delay (iq range 52-104)

Growth Weight:
obesity

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
syndactyly
postaxial polydactyly

Skeletal Spine:
scoliosis
spina bifida occulta
pilonidal dimple
absent coccyx

Abdomen External Features:
umbilical hernia
omphalocele

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary Kidneys:
hydronephrosis

Skeletal Feet:
syndactyly
preaxial polydactyly
metatarsus varus

Head And Neck Mouth:
high-arched palate

Skeletal Skull:
craniosynostosis (coronal, sagittal, lambdoid sutures)

Head And Neck Teeth:
missing teeth
delayed loss of deciduous teeth

Abdomen Spleen:
accessory spleens

Clinical features from OMIM:

201000

GenomeRNAi Phenotypes related to Carpenter Syndrome 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.17 MEGF8 POMT2
2 Decreased viability after Maraba virus infection GR00252-A-2 9.17 GPC4 MEGF8
3 Decreased viability after Maraba virus infection GR00252-A-3 9.17 GPC4 MEGF8 POMT2

MGI Mouse Phenotypes related to Carpenter Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.72 CDON KIF7 MEGF8 POMT2 RAB23
2 craniofacial MP:0005382 9.71 CDON GPC6 KIF7 MEGF8
3 mortality/aging MP:0010768 9.7 CDON GPC6 KIF7 MEGF8 P4HB POMT2
4 digestive/alimentary MP:0005381 9.67 CDON GPC6 KIF7 MEGF8
5 limbs/digits/tail MP:0005371 9.65 CDON GPC6 KIF7 MEGF8 RAB23
6 respiratory system MP:0005388 9.26 CDON GPC6 KIF7 MEGF8
7 skeleton MP:0005390 9.02 CDON GPC6 KIF7 MEGF8 RAB23

Drugs & Therapeutics for Carpenter Syndrome 1

Drugs for Carpenter Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 266)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Glyburide Approved Phase 4,Not Applicable 10238-21-8 3488
3
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
6
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
7
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
8
Aripiprazole lauroxil Approved, Investigational Phase 4 1259305-29-7 49831411
9
Dopamine Approved Phase 4,Phase 1,Phase 2,Not Applicable 62-31-7, 51-61-6 681
10
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
11
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
12
Acetaminophen Approved Phase 4 103-90-2 1983
13
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
14
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
15
Ibuprofen Approved Phase 4 15687-27-1 3672
16 Antirheumatic Agents Phase 4,Phase 2,Phase 1,Not Applicable
17 Antidepressive Agents Phase 4,Phase 2,Not Applicable
18 Central Nervous System Depressants Phase 4,Phase 3,Phase 1,Phase 2
19 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
20 Quetiapine Fumarate Phase 4 111974-72-2
21 Antipsychotic Agents Phase 4,Phase 3,Phase 2
22 Tranquilizing Agents Phase 4,Phase 3
23 Hypoglycemic Agents Phase 4
24 Hydrocortisone 17-butyrate 21-propionate Phase 4
25 Anti-Inflammatory Agents Phase 4,Phase 2,Not Applicable
26 Hypnotics and Sedatives Phase 4
27 Hydrocortisone hemisuccinate Phase 4
28 Dopamine Antagonists Phase 4
29 Paliperidone Palmitate Phase 4
30 Serotonin 5-HT2 Receptor Antagonists Phase 4
31 Serotonin Agents Phase 4,Phase 3,Not Applicable
32 Serotonin Antagonists Phase 4
33 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Serotonin 5-HT1 Receptor Agonists Phase 4
35 Serotonin Receptor Agonists Phase 4,Not Applicable
36 Dopamine agonists Phase 4
37 Dopamine D2 Receptor Antagonists Phase 4
38 Dopamine Agents Phase 4,Phase 1,Phase 2,Not Applicable
39 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Serotonin Uptake Inhibitors Phase 4,Phase 3
43 Antiemetics Phase 4,Phase 3,Phase 2
44 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
45 Analgesics, Non-Narcotic Phase 4,Not Applicable
46 Analgesics Phase 4,Not Applicable
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
48 Antipyretics Phase 4
49 Cyclooxygenase 2 Inhibitors Phase 4
50 Cyclooxygenase Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 128)
# Name Status NCT ID Phase Drugs
1 Seroquel® Combined With Cognitive Remediation Therapy to Conventional Treatment in Patients With Schizophrenia Completed NCT00255515 Phase 4 Quetiapine fumarate;conventional treatment for schizophrenia
2 A Comparison Between Two Oral Hypoglycemics - Metformin and Glybenclamide for the Treatment of Gestational Diabetes Mellitus Completed NCT01563120 Phase 4 metformin;glybenclamide
3 Eszopiclone Treatment & Cortisol Responsivity Completed NCT00889200 Phase 4 eszopiclone
4 A Study of Aripiprazole Lauroxil (Also Known as ARISTADA TM) in Subjects With Schizophrenia Completed NCT02634320 Phase 4 Aripiprazole Lauroxil
5 Efficacy of High Dose Olanzapine for the Treatment of Schizophrenia and Schizoaffective Disorder Completed NCT00100776 Phase 4 Olanzapine
6 Correlation Between Acute Analgesia and Long-Term Function Following Ankle Injuries Recruiting NCT02667730 Phase 4 Acetaminophen;Naproxen;Celecoxib
7 Pain Control Following Sinus Surgery Not yet recruiting NCT03783702 Phase 4 OxyCODONE 5 Mg Oral Tablet;Ibuprofen 600 Mg Oral Tablet;Acetaminophen 650 MG Oral Tablet
8 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
9 D-Serine Treatment of Negative Symptoms and Cognitive Deficits in Schizophrenia Completed NCT00237809 Phase 3 D-serine;Placebo
10 Adjunctive Treatment for Decreasing Symptoms of Schizophrenia Completed NCT00222235 Phase 2, Phase 3 d-cycloserine;glycine;placebo
11 D-Serine for Enhancing Cognitive Retraining for the Treatment of Schizophrenia Completed NCT00237848 Phase 3 D-serine
12 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3 High Dose Multivitamin
13 Open-Label Study of Intramuscular Olanzapine Depot in Patients With Schizophrenia or Schizoaffective Disorder Completed NCT00088465 Phase 3 Intramuscular olanzapine depot
14 Olanzapine Pamoate Depot Versus Oral Olanzapine on Treatment Outcomes in Outpatients With Schizophrenia Completed NCT00320489 Phase 3 olanzapine;olanzapine pamoate depot
15 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3 Trimethoprim-Sulfamethoxazole;Placebo
16 Effect of D-cycloserine on a Short Imagery Rescripting Intervention for Subclinical PTSD Recruiting NCT03216356 Phase 2, Phase 3 D-Cycloserine;Placebo;Study Pill
17 Tenecteplase in Wake-up Ischaemic Stroke Trial Recruiting NCT03181360 Phase 3 Tenecteplase
18 Treatment of Invasively Ventilated Adults With Early Activity and Mobilisation Recruiting NCT03133377 Phase 3
19 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
20 Effect of Tumor Treating Fields (TTFields, 150 kHz) as Front-Line Treatment of Locally-advanced Pancreatic Adenocarcinoma Concomitant With Gemcitabine and Nab-paclitaxel (PANOVA-3) Recruiting NCT03377491 Phase 3 Gemcitabine;nab paclitaxel
21 Evaluation of the Duration of Therapy for Thrombosis in Children Recruiting NCT00687882 Phase 3
22 Multi-center Trial of Revlimid® and Rituximab, for First-Line Treatment of Chronic Lymphocytic Leukemia (CLL) Unknown status NCT00628238 Phase 2 Lenalidomide and Rituximab;Lenalidomide and Rituximab
23 Nilotinib and Imatinib Mesylate After Donor Stem Cell Transplant in Treating Patients With ALL or CML Completed NCT00702403 Phase 1, Phase 2 nilotinib;imatinib mesylate
24 Sirolimus as Secondary Therapy in Chronic Graft-Versus-Host Disease Not Responding To Prior Treatment Completed NCT00079183 Phase 2 sirolimus
25 Psychosexual Intervention in Patients With Stage I-III Gynecologic or Breast Cancer Completed NCT01764802 Phase 2
26 Oxytocin or Galantamine Versus Placebo for the Treatment of Negative Symptoms and Cognitive Impairments in Schizophrenia Completed NCT01012167 Phase 2 Oxytocin;Galantamine
27 Gulf War Illness: Evaluation of an Innovative Detoxification Program Completed NCT01672710 Phase 2 plain crystalline niacin, exercise, sauna
28 Therapy for Locally Advanced Breast Cancer Using Doxil, Paclitaxel, and Cyclophosphamide With Avastin Completed NCT00635050 Phase 2 Doxil, Paclitaxel, Cyclophosphamide, Avastin
29 Venlafaxine for Hot Flashes After Breast Cancer Completed NCT00198250 Phase 2 venlafaxine
30 Effect of Verb Network Strengthening Treatment (VNeST) on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
31 Mechanical Device for the Relief of Hot Flashes Completed NCT01281332 Phase 2
32 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 methylprednisolone;prednisone
33 Imatinib Mesylate After a Donor Stem Cell Transplant in Treating Patients With Philadelphia Chromosome-Positive Leukemia Completed NCT00244829 Phase 1, Phase 2 imatinib mesylate
34 Safety and Efficacy of Varying Regimens of CANDIN for Treatment of Common Warts (Verruca Vulgaris) Completed NCT02393417 Phase 2
35 Online Stress Management and Coping Skills Training for Women With Breast Cancer Completed NCT01335152 Phase 1, Phase 2
36 A Study to Determine the Safety, Tolerability and Efficacy NW-3509A in Patients With Chronic Schizophrenia Completed NCT02624167 Phase 2 NW-3509A;Placebo
37 Neuropeptide Treatment for Hot Flushes During the Menopause Completed NCT02668185 Phase 2 NK3R antagonist - AZD4901;Placebo
38 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2 ACTH;Placebo
39 Alphanate in Immune Tolerance Induction Therapy Recruiting NCT03095287 Phase 2
40 A Sequenced Behavioral and Medication Intervention for Cocaine Dependence Recruiting NCT01986075 Phase 1, Phase 2 Mixed amphetamine salts;Computer-assisted CBT plus placebo
41 Study of ProTmune for Allogeneic HCT in Adult Patients With Hematologic Malignancies Recruiting NCT02743351 Phase 1, Phase 2
42 Olaparib In Metastatic Breast Cancer Recruiting NCT03344965 Phase 2 Olaparib
43 Study of Acalabrutinib Alone or in Combination Therapy in Subjects With B-cell Non-Hodgkin Lymphoma Recruiting NCT02180711 Phase 1, Phase 2 acalabrutinib;rituximab (IV);Lenalidomide
44 NeoSync TMS Treatment for Bipolar I Depression Active, not recruiting NCT02839798 Phase 2
45 Proof-of-Concept Trial of CERC-501 Augmentation of Antidepressant Therapy in Treatment-Resistant Depression Terminated NCT01913535 Phase 2 CERC-501;Placebo
46 Benefits Management for People With Psychiatric Disabilities Completed NCT01329393 Phase 1
47 A Phase 1 Safety Study of LY2127399 in Combination With Bortezomib Completed NCT00689507 Phase 1
48 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
49 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
50 Multiple Gestation Study Unknown status NCT02278536

Search NIH Clinical Center for Carpenter Syndrome 1

Cochrane evidence based reviews: acrocephalopolysyndactyly type ii

Genetic Tests for Carpenter Syndrome 1

Genetic tests related to Carpenter Syndrome 1:

# Genetic test Affiliating Genes
1 Carpenter Syndrome 30
2 Carpenter Syndrome 1 30

Anatomical Context for Carpenter Syndrome 1

MalaCards organs/tissues related to Carpenter Syndrome 1:

42
Heart, Bone, Breast, Brain, Testes, Spleen, Prostate

Publications for Carpenter Syndrome 1

Articles related to Carpenter Syndrome 1:

(show all 41)
# Title Authors Year
1
Cole-Carpenter syndrome in a patient from Thailand. ( 30063094 )
2018
2
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. ( 30462379 )
2018
3
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. ( 29384951 )
2017
4
<i>P4HB</i> recurrent missense mutation causing Cole-Carpenter syndrome. ( 29263160 )
2017
5
CRTAP mutation in a patient with Cole-Carpenter syndrome. ( 25604815 )
2015
6
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. ( 25683117 )
2015
7
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. ( 25168863 )
2014
8
Carpenter syndrome: a review for the craniofacial surgeon. ( 25162549 )
2014
9
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. ( 24458945 )
2014
10
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. ( 23706836 )
2013
11
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
12
Carpenter syndrome: a case report. ( 22828559 )
2012
13
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. ( 23063620 )
2012
14
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. ( 21412941 )
2011
15
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. ( 20358613 )
2010
16
Sudden death in a child with Carpenter Syndrome. Case report and literature review. ( 19924577 )
2009
17
Carpenter syndrome. ( 19165041 )
2009
18
Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). ( 19076584 )
2008
19
Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. ( 18317146 )
2008
20
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. ( 17503333 )
2007
21
The carpenter syndrome phenotype. ( 15129947 )
2004
22
Association of schizophrenia and Carpenter syndrome. ( 26983661 )
2003
23
Oral findings in Carpenter syndrome. ( 11572266 )
2001
24
New case of Cole-Carpenter syndrome. ( 10842295 )
2000
25
Refined gene localization for the Miles-Carpenter syndrome (MCS) ( 10398232 )
1999
26
Carpenter syndrome: report of two siblings. ( 9689991 )
1998
27
A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. ( 9237506 )
1997
28
Transabdominal embryoscopy for the detection of Carpenter syndrome during the first trimester. ( 7795371 )
1994
29
Prenatal sonographic diagnosis of Carpenter syndrome. ( 7837341 )
1994
30
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents. ( 8213921 )
1993
31
Cerebral malformations in Carpenter syndrome. ( 8352858 )
1993
32
Familial occurrence of Summitt syndrome or a variant example of Carpenter syndrome? ( 1642806 )
1992
33
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. ( 2309763 )
1990
34
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. ( 3322002 )
1987
35
Carpenter syndrome: natural history and clinical spectrum. ( 3993675 )
1985
36
Metacarpophalangeal pattern profile in ACPS type II (Carpenter syndrome). ( 7119093 )
1982
37
Carpenter syndrome with normal intelligence and precocious growth. ( 7270272 )
1981
38
Carpenter syndrome (ACPS-II). ( 6260733 )
1980
39
Normal intelligence in two children with Carpenter syndrome. ( 263437 )
1978
40
Carpenter syndrome--acrocephalopolysyndactyly type II. ( 4370930 )
1974
41
Acrocephalopolysyndactyly, type II (Carpenter syndrome). ( 5085485 )
1972

Variations for Carpenter Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Carpenter Syndrome 1:

76
# 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 1:

6 (show top 50) (show all 63)
# 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 NM_183227.2(RAB23): c.434T> A (p.Leu145Ter) single nucleotide variant Pathogenic rs121908171 GRCh38 Chromosome 6, 57194817: 57194817
3 RAB23 RAB23, 1-BP INS, 408T insertion Pathogenic
4 RAB23 RAB23, 1-BP DUP, 86A duplication Pathogenic
5 RAB23 NM_183227.2(RAB23): c.239G> A (p.Arg80Gln) single nucleotide variant Uncertain significance rs145669565 GRCh37 Chromosome 6, 57072428: 57072428
6 RAB23 NM_183227.2(RAB23): c.239G> A (p.Arg80Gln) single nucleotide variant Uncertain significance rs145669565 GRCh38 Chromosome 6, 57207630: 57207630
7 RAB23 NM_183227.2(RAB23): c.239G> A (p.Arg80Gln) single nucleotide variant Uncertain significance rs145669565 NCBI36 Chromosome 6, 57180387: 57180387
8 RAB23 NM_183227.2(RAB23): c.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs765443042 GRCh37 Chromosome 6, 57075097: 57075097
9 RAB23 NM_183227.2(RAB23): c.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs765443042 GRCh38 Chromosome 6, 57210299: 57210299
10 RAB23 NM_183227.2(RAB23): c.*1312A> G single nucleotide variant Likely benign rs11398 GRCh38 Chromosome 6, 57189149: 57189149
11 RAB23 NM_183227.2(RAB23): c.*1312A> G single nucleotide variant Likely benign rs11398 GRCh37 Chromosome 6, 57053947: 57053947
12 RAB23 NM_183227.2(RAB23): c.*984G> A single nucleotide variant Uncertain significance rs148372304 GRCh38 Chromosome 6, 57189477: 57189477
13 RAB23 NM_183227.2(RAB23): c.*984G> A single nucleotide variant Uncertain significance rs148372304 GRCh37 Chromosome 6, 57054275: 57054275
14 RAB23 NM_183227.2(RAB23): c.*811G> A single nucleotide variant Likely benign rs16888378 GRCh38 Chromosome 6, 57189650: 57189650
15 RAB23 NM_183227.2(RAB23): c.*811G> A single nucleotide variant Likely benign rs16888378 GRCh37 Chromosome 6, 57054448: 57054448
16 RAB23 NM_183227.2(RAB23): c.*618A> G single nucleotide variant Uncertain significance rs886061653 GRCh38 Chromosome 6, 57189843: 57189843
17 RAB23 NM_183227.2(RAB23): c.*618A> G single nucleotide variant Uncertain significance rs886061653 GRCh37 Chromosome 6, 57054641: 57054641
18 RAB23 NM_183227.2(RAB23): c.301T> G (p.Ser101Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45479896 GRCh38 Chromosome 6, 57196547: 57196547
19 RAB23 NM_183227.2(RAB23): c.301T> G (p.Ser101Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45479896 GRCh37 Chromosome 6, 57061345: 57061345
20 RAB23 NM_183227.2(RAB23): c.*1665_*1667dupAAT duplication Uncertain significance rs886061651 GRCh38 Chromosome 6, 57188794: 57188796
21 RAB23 NM_183227.2(RAB23): c.*1665_*1667dupAAT duplication Uncertain significance rs886061651 GRCh37 Chromosome 6, 57053592: 57053594
22 RAB23 NM_183227.2(RAB23): c.*722T> C single nucleotide variant Uncertain significance rs143345846 GRCh38 Chromosome 6, 57189739: 57189739
23 RAB23 NM_183227.2(RAB23): c.*722T> C single nucleotide variant Uncertain significance rs143345846 GRCh37 Chromosome 6, 57054537: 57054537
24 RAB23 NM_183227.2(RAB23): c.*544G> A single nucleotide variant Uncertain significance rs138311113 GRCh38 Chromosome 6, 57189917: 57189917
25 RAB23 NM_183227.2(RAB23): c.*544G> A single nucleotide variant Uncertain significance rs138311113 GRCh37 Chromosome 6, 57054715: 57054715
26 RAB23 NM_183227.2(RAB23): c.*416G> C single nucleotide variant Likely benign rs1411578 GRCh38 Chromosome 6, 57190045: 57190045
27 RAB23 NM_183227.2(RAB23): c.*416G> C single nucleotide variant Likely benign rs1411578 GRCh37 Chromosome 6, 57054843: 57054843
28 RAB23 NM_183227.2(RAB23): c.714A> G (p.Ter238=) single nucleotide variant Uncertain significance rs142290596 GRCh38 Chromosome 6, 57190461: 57190461
29 RAB23 NM_183227.2(RAB23): c.714A> G (p.Ter238=) single nucleotide variant Uncertain significance rs142290596 GRCh37 Chromosome 6, 57055259: 57055259
30 RAB23 NM_183227.2(RAB23): c.619G> A (p.Gly207Ser) single nucleotide variant Likely benign rs1040461 GRCh38 Chromosome 6, 57190556: 57190556
31 RAB23 NM_183227.2(RAB23): c.619G> A (p.Gly207Ser) single nucleotide variant Likely benign rs1040461 GRCh37 Chromosome 6, 57055354: 57055354
32 RAB23 NM_183227.2(RAB23): c.616T> A (p.Ser206Thr) single nucleotide variant Uncertain significance rs202181599 GRCh38 Chromosome 6, 57190559: 57190559
33 RAB23 NM_183227.2(RAB23): c.616T> A (p.Ser206Thr) single nucleotide variant Uncertain significance rs202181599 GRCh37 Chromosome 6, 57055357: 57055357
34 RAB23 NM_183227.2(RAB23): c.242-15_242-12dupATTG duplication Uncertain significance rs45542438 GRCh38 Chromosome 6, 57196618: 57196621
35 RAB23 NM_183227.2(RAB23): c.242-15_242-12dupATTG duplication Uncertain significance rs45542438 GRCh37 Chromosome 6, 57061416: 57061419
36 RAB23 NM_183227.2(RAB23): c.-23C> T single nucleotide variant Uncertain significance rs145059995 GRCh37 Chromosome 6, 57075201: 57075201
37 RAB23 NM_183227.2(RAB23): c.-23C> T single nucleotide variant Uncertain significance rs145059995 GRCh38 Chromosome 6, 57210403: 57210403
38 RAB23 NM_183227.2(RAB23): c.-49C> T single nucleotide variant Uncertain significance rs45474592 GRCh37 Chromosome 6, 57075227: 57075227
39 RAB23 NM_183227.2(RAB23): c.-49C> T single nucleotide variant Uncertain significance rs45474592 GRCh38 Chromosome 6, 57210429: 57210429
40 RAB23 NM_183227.2(RAB23): c.*604_*607delAATT deletion Uncertain significance rs886061654 GRCh37 Chromosome 6, 57054652: 57054655
41 RAB23 NM_183227.2(RAB23): c.*735T> G single nucleotide variant Uncertain significance rs886061652 GRCh38 Chromosome 6, 57189726: 57189726
42 RAB23 NM_183227.2(RAB23): c.*735T> G single nucleotide variant Uncertain significance rs886061652 GRCh37 Chromosome 6, 57054524: 57054524
43 RAB23 NM_183227.2(RAB23): c.*145T> C single nucleotide variant Uncertain significance rs189570356 GRCh38 Chromosome 6, 57190316: 57190316
44 RAB23 NM_183227.2(RAB23): c.*145T> C single nucleotide variant Uncertain significance rs189570356 GRCh37 Chromosome 6, 57055114: 57055114
45 RAB23 NM_183227.2(RAB23): c.398+9G> A single nucleotide variant Uncertain significance rs376839366 GRCh38 Chromosome 6, 57196441: 57196441
46 RAB23 NM_183227.2(RAB23): c.398+9G> A single nucleotide variant Uncertain significance rs376839366 GRCh37 Chromosome 6, 57061239: 57061239
47 RAB23 NM_183227.2(RAB23): c.*1251G> A single nucleotide variant Uncertain significance rs182662 GRCh38 Chromosome 6, 57189210: 57189210
48 RAB23 NM_183227.2(RAB23): c.*1251G> A single nucleotide variant Uncertain significance rs182662 GRCh37 Chromosome 6, 57054008: 57054008
49 RAB23 NM_183227.2(RAB23): c.*1184_*1187dupATCA duplication Uncertain significance rs139778770 GRCh38 Chromosome 6, 57189274: 57189277
50 RAB23 NM_183227.2(RAB23): c.*1184_*1187dupATCA duplication Uncertain significance rs139778770 GRCh37 Chromosome 6, 57054072: 57054075

Expression for Carpenter Syndrome 1

Search GEO for disease gene expression data for Carpenter Syndrome 1.

Pathways for Carpenter Syndrome 1

Pathways related to Carpenter Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.67 CDON KIF7 P4HB
2
Show member pathways
10.91 CDON KIF7 RAB23

GO Terms for Carpenter Syndrome 1

Cellular components related to Carpenter Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 9.26 GPC4 GPC6
2 lysosomal lumen GO:0043202 9.16 GPC4 GPC6
3 collagen-containing extracellular matrix GO:0062023 9.13 CDON GPC4 GPC6
4 anchored component of plasma membrane GO:0046658 8.62 GPC4 GPC6

Biological processes related to Carpenter Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.43 GPC4 GPC6
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.4 GPC4 GPC6
3 regulation of signal transduction GO:0009966 9.37 GPC4 GPC6
4 glycosaminoglycan biosynthetic process GO:0006024 9.32 GPC4 GPC6
5 glycosaminoglycan catabolic process GO:0006027 9.26 GPC4 GPC6
6 negative regulation of smoothened signaling pathway GO:0045879 9.16 KIF7 MEGF8
7 craniofacial suture morphogenesis GO:0097094 8.96 MEGF8 RAB23
8 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane GO:0098696 8.62 GPC4 GPC6

Molecular functions related to Carpenter Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.62 GPC4 GPC6

Sources for Carpenter Syndrome 1

3 CDC
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