MCID: CRP023
MIFTS: 54

Carpenter Syndrome 1

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

Aliases & Classifications for Carpenter Syndrome 1

MalaCards integrated aliases for Carpenter Syndrome 1:

Name: Carpenter Syndrome 1 57 53 75 29 6
Carpenter Syndrome 57 12 76 53 25 59 75 37 29 13 6 15
Acrocephalopolysyndactyly Type Ii 57 12 25 75 44
Acrocephalopolysyndactyly Type 2 53 59 73
Acps Ii 57 25 75
Crpt1 57 53 75
Acrocephalosyndactyly, Type Ii 53 25
Acrocephalopolysyndactyly 2 25 75
Acps2 59 75
Type Ii Acrocephalosyndactyly 25
Carpenter Syndrome, Type 1 40
Apert-Crouzon Disease 73
Acps 2 53

Characteristics:

Orphanet epidemiological data:

59
carpenter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
carpenter syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Carpenter Syndrome 1

NIH Rare Diseases : 53 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 Glyburide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and breast, and related phenotypes are obesity and genu valgum

OMIM : 57 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 : 75 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.

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

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 cole-carpenter syndrome 12.4
2 cole-carpenter syndrome 1 12.3
3 carpenter syndrome 2 12.3

Symptoms & Phenotypes for Carpenter Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

AbdomenSpleen:
accessory spleens


Clinical features from OMIM:

201000

Human phenotypes related to Carpenter Syndrome 1:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
2 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
3 finger syndactyly 59 32 obligate (100%) Obligate (100%) HP:0006101
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
6 broad thumb 59 32 frequent (33%) Frequent (79-30%) HP:0011304
7 cloverleaf skull 59 32 frequent (33%) Frequent (79-30%) HP:0002676
8 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
9 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
10 brachydactyly 59 32 obligate (100%) Obligate (100%) HP:0001156
11 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
12 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
13 toe syndactyly 59 32 obligate (100%) Obligate (100%) HP:0001770
14 postaxial hand polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001162
15 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
16 polysplenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001748
17 preaxial foot polydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001841
18 external genital hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003241
19 oxycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000263
20 malar flattening 32 HP:0000272
21 low-set ears 32 HP:0000369
22 short neck 32 HP:0000470
23 high palate 32 HP:0000218
24 precocious puberty 32 HP:0000826
25 scoliosis 32 HP:0002650
26 depressed nasal bridge 32 HP:0005280
27 sensorineural hearing impairment 32 HP:0000407
28 optic atrophy 32 HP:0000648
29 short stature 32 HP:0004322
30 brachycephaly 32 HP:0000248
31 micrognathia 32 HP:0000347
32 opacification of the corneal stroma 32 HP:0007759
33 coxa valga 32 HP:0002673
34 epicanthus 32 HP:0000286
35 metatarsus adductus 32 HP:0001840
36 atrial septal defect 32 HP:0001631
37 abnormality of the skull 59 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 59 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 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 RTL1 CDON KIF7 MEGF8 RAB23
2 limbs/digits/tail MP:0005371 9.46 CDON KIF7 MEGF8 RAB23
3 mortality/aging MP:0010768 9.43 CDON KIF7 MEGF8 P4HB RAB23 RTL1
4 vision/eye MP:0005391 8.92 CDON 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 242)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4,Not Applicable 10238-21-8 3488
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Eszopiclone Approved, Investigational Phase 4 138729-47-2 969472
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
6
Dopamine Approved Phase 4,Phase 1,Phase 2,Not Applicable 51-61-6, 62-31-7 681
7
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
8
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
9
Acetaminophen Approved Phase 4 103-90-2 1983
10
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
11
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
12 Antirheumatic Agents Phase 4,Phase 2,Phase 1,Not Applicable
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,Not Applicable
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,Not Applicable
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 aripiprazole lauroxil Phase 4 49831411
25 Dopamine Agents Phase 4,Phase 1,Phase 2,Not Applicable
26 Dopamine Antagonists Phase 4
27 Dopamine D2 Receptor Antagonists Phase 4
28 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
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 Antiemetics Phase 4,Phase 3,Phase 2
34 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
36 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Serotonin Uptake Inhibitors Phase 4,Phase 3
39 Analgesics Phase 4,Not Applicable
40 Analgesics, Non-Narcotic Phase 4,Not Applicable
41 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
42 Antipyretics Phase 4
43 Cyclooxygenase 2 Inhibitors Phase 4
44 Cyclooxygenase Inhibitors Phase 4
45
Serotonin Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 50-67-9 5202
46
Cycloserine Approved Phase 2, Phase 3,Phase 3 68-41-7 401 6234
47
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 44475014
48
Sulfamethoxazole Approved Phase 3 723-46-6 5329
49
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
50
Idebenone Approved, Investigational Phase 3 58186-27-9

Interventional clinical trials:

(show top 50) (show all 116)
# 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 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3 Paricalcitol
8 D-Serine Treatment of Negative Symptoms and Cognitive Deficits in Schizophrenia Completed NCT00237809 Phase 3 D-serine;Placebo
9 Adjunctive Treatment for Decreasing Symptoms of Schizophrenia Completed NCT00222235 Phase 2, Phase 3 d-cycloserine;glycine;placebo
10 D-Serine for Enhancing Cognitive Retraining for the Treatment of Schizophrenia Completed NCT00237848 Phase 3 D-serine
11 Folic Acid for Vascular Outcome Reduction In Transplantation (FAVORIT) Completed NCT00064753 Phase 2, Phase 3 High Dose Multivitamin
12 Open-Label Study of Intramuscular Olanzapine Depot in Patients With Schizophrenia or Schizoaffective Disorder Completed NCT00088465 Phase 3 Intramuscular olanzapine depot
13 Olanzapine Pamoate Depot Versus Oral Olanzapine on Treatment Outcomes in Outpatients With Schizophrenia Completed NCT00320489 Phase 3 olanzapine;olanzapine pamoate depot
14 Randomized Intervention for Children With Vesicoureteral Reflux (RIVUR) Completed NCT00405704 Phase 3 Trimethoprim-Sulfamethoxazole;Placebo
15 Effect of D-cycloserine on a Short Imagery Rescripting Intervention for Subclinical PTSD Recruiting NCT03216356 Phase 2, Phase 3 D-Cycloserine;Placebo
16 Treatment of Invasively Ventilated Adults With Early Activity and Mobilisation Recruiting NCT03133377 Phase 3
17 Study of Efficacy of CML-CP Patients Treated With ABL001 Versus Bosutinib, Previously Treated With 2 or More TKIs Recruiting NCT03106779 Phase 3 ABL001;Bosutinib
18 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
19 Evaluation of the Duration of Therapy for Thrombosis in Children Recruiting NCT00687882 Phase 3
20 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
21 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
22 Sirolimus as Secondary Therapy in Chronic Graft-Versus-Host Disease Not Responding To Prior Treatment Completed NCT00079183 Phase 2 sirolimus
23 Psychosexual Intervention in Patients With Stage I-III Gynecologic or Breast Cancer Completed NCT01764802 Phase 2
24 Oxytocin or Galantamine Versus Placebo for the Treatment of Negative Symptoms and Cognitive Impairments in Schizophrenia Completed NCT01012167 Phase 2 Oxytocin;Galantamine
25 Therapy for Locally Advanced Breast Cancer Using Doxil, Paclitaxel, and Cyclophosphamide With Avastin Completed NCT00635050 Phase 2 Doxil, Paclitaxel, Cyclophosphamide, Avastin
26 Venlafaxine for Hot Flashes After Breast Cancer Completed NCT00198250 Phase 2 venlafaxine
27 Effect of Verb Network Strengthening Treatment (VNeST) on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
28 Mechanical Device for the Relief of Hot Flashes Completed NCT01281332 Phase 2
29 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
30 Imatinib Mesylate After a Donor Stem Cell Transplant in Treating Patients With Philadelphia Chromosome-Positive Leukemia Completed NCT00244829 Phase 1, Phase 2 imatinib mesylate
31 Safety and Efficacy of Varying Regimens of CANDIN for Treatment of Common Warts (Verruca Vulgaris) Completed NCT02393417 Phase 2
32 Online Stress Management and Coping Skills Training for Women With Breast Cancer Completed NCT01335152 Phase 1, Phase 2
33 A Study to Determine the Safety, Tolerability and Efficacy NW-3509A in Patients With Chronic Schizophrenia Completed NCT02624167 Phase 2 NW-3509A;Placebo
34 Neuropeptide Treatment for Hot Flushes During the Menopause Completed NCT02668185 Phase 2 NK3R antagonist - AZD4901;Placebo
35 NeoSync TMS Treatment for Bipolar I Depression Recruiting NCT02839798 Phase 2
36 ACTH in Progressive Forms of MS Recruiting NCT01950234 Phase 2 ACTH;Placebo
37 A Sequenced Behavioral and Medication Intervention for Cocaine Dependence Recruiting NCT01986075 Phase 1, Phase 2 Mixed amphetamine salts;Computer-assisted CBT plus placebo
38 Study of ProTmune for Allogeneic HCT in Adult Patients With Hematologic Malignancies Recruiting NCT02743351 Phase 1, Phase 2
39 Study of Acalabrutinib Alone or in Combination With Rituximab in Indolent B-cell Non-Hodgkin Lymphoma Recruiting NCT02180711 Phase 1, Phase 2 acalabrutinib;rituximab (IV)
40 Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02163577 Phase 2
41 Proof-of-Concept Trial of CERC-501 Augmentation of Antidepressant Therapy in Treatment-Resistant Depression Terminated NCT01913535 Phase 2 CERC-501;Placebo
42 Benefits Management for People With Psychiatric Disabilities Completed NCT01329393 Phase 1
43 Gulf War Illness: Evaluation of an Innovative Detoxification Program Completed NCT01672710 Phase 1
44 A Phase 1 Safety Study of LY2127399 in Combination With Bortezomib Completed NCT00689507 Phase 1
45 A Study of KRN23 in X-linked Hypophosphatemia Completed NCT00830674 Phase 1 Placebo;KRN23
46 A Single-Dose Study in Normal Volunteers to Assess the Safety, Tolerability and Pharmacokinetics of STX107 Completed NCT00965432 Phase 1 STX107
47 Cognitive Behavioural Therapy for Menopausal Symptoms Unknown status NCT02480192 Not Applicable
48 MANAGE Automated Glucose Monitoring Unknown status NCT02211300 Not Applicable
49 Promoting Smoking Cessation in Carpenters Completed NCT01878214 Not Applicable
50 Gestational Diabetes Diagnostic Methods Completed NCT01540396 Not Applicable

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 29
2 Carpenter Syndrome 1 29 RAB23

Anatomical Context for Carpenter Syndrome 1

MalaCards organs/tissues related to Carpenter Syndrome 1:

41
Heart, Bone, Breast, Brain, Testes, Prostate, B Cells

Publications for Carpenter Syndrome 1

Articles related to Carpenter Syndrome 1:

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

Variations for Carpenter Syndrome 1

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

75
# 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 58)
# 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.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs765443042 GRCh37 Chromosome 6, 57075097: 57075097
6 RAB23 NM_183227.2(RAB23): c.82C> T (p.Arg28Ter) single nucleotide variant Pathogenic rs765443042 GRCh38 Chromosome 6, 57210299: 57210299
7 RAB23 NM_183227.2(RAB23): c.*1312A> G single nucleotide variant Likely benign rs11398 GRCh37 Chromosome 6, 57053947: 57053947
8 RAB23 NM_183227.2(RAB23): c.*1312A> G single nucleotide variant Likely benign rs11398 GRCh38 Chromosome 6, 57189149: 57189149
9 RAB23 NM_183227.2(RAB23): c.*984G> A single nucleotide variant Uncertain significance rs148372304 GRCh37 Chromosome 6, 57054275: 57054275
10 RAB23 NM_183227.2(RAB23): c.*984G> A single nucleotide variant Uncertain significance rs148372304 GRCh38 Chromosome 6, 57189477: 57189477
11 RAB23 NM_183227.2(RAB23): c.*811G> A single nucleotide variant Likely benign rs16888378 GRCh37 Chromosome 6, 57054448: 57054448
12 RAB23 NM_183227.2(RAB23): c.*811G> A single nucleotide variant Likely benign rs16888378 GRCh38 Chromosome 6, 57189650: 57189650
13 RAB23 NM_183227.2(RAB23): c.*618A> G single nucleotide variant Uncertain significance rs886061653 GRCh37 Chromosome 6, 57054641: 57054641
14 RAB23 NM_183227.2(RAB23): c.*618A> G single nucleotide variant Uncertain significance rs886061653 GRCh38 Chromosome 6, 57189843: 57189843
15 RAB23 NM_183227.2(RAB23): c.301T> G (p.Ser101Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45479896 GRCh38 Chromosome 6, 57196547: 57196547
16 RAB23 NM_183227.2(RAB23): c.301T> G (p.Ser101Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45479896 GRCh37 Chromosome 6, 57061345: 57061345
17 RAB23 NM_183227.2(RAB23): c.619G> A (p.Gly207Ser) single nucleotide variant Likely benign rs1040461 GRCh38 Chromosome 6, 57190556: 57190556
18 RAB23 NM_183227.2(RAB23): c.*1665_*1667dupAAT duplication Uncertain significance rs886061651 GRCh37 Chromosome 6, 57053592: 57053594
19 RAB23 NM_183227.2(RAB23): c.*1665_*1667dupAAT duplication Uncertain significance rs886061651 GRCh38 Chromosome 6, 57188794: 57188796
20 RAB23 NM_183227.2(RAB23): c.*722T> C single nucleotide variant Uncertain significance rs143345846 GRCh37 Chromosome 6, 57054537: 57054537
21 RAB23 NM_183227.2(RAB23): c.*722T> C single nucleotide variant Uncertain significance rs143345846 GRCh38 Chromosome 6, 57189739: 57189739
22 RAB23 NM_183227.2(RAB23): c.*544G> A single nucleotide variant Uncertain significance rs138311113 GRCh37 Chromosome 6, 57054715: 57054715
23 RAB23 NM_183227.2(RAB23): c.*544G> A single nucleotide variant Uncertain significance rs138311113 GRCh38 Chromosome 6, 57189917: 57189917
24 RAB23 NM_183227.2(RAB23): c.*416G> C single nucleotide variant Likely benign rs1411578 GRCh37 Chromosome 6, 57054843: 57054843
25 RAB23 NM_183227.2(RAB23): c.*416G> C single nucleotide variant Likely benign rs1411578 GRCh38 Chromosome 6, 57190045: 57190045
26 RAB23 NM_183227.2(RAB23): c.714A> G (p.Ter238=) single nucleotide variant Uncertain significance rs142290596 GRCh37 Chromosome 6, 57055259: 57055259
27 RAB23 NM_183227.2(RAB23): c.714A> G (p.Ter238=) single nucleotide variant Uncertain significance rs142290596 GRCh38 Chromosome 6, 57190461: 57190461
28 RAB23 NM_183227.2(RAB23): c.619G> A (p.Gly207Ser) single nucleotide variant Likely benign rs1040461 GRCh37 Chromosome 6, 57055354: 57055354
29 RAB23 NM_183227.2(RAB23): c.616T> A (p.Ser206Thr) single nucleotide variant Uncertain significance rs202181599 GRCh37 Chromosome 6, 57055357: 57055357
30 RAB23 NM_183227.2(RAB23): c.616T> A (p.Ser206Thr) single nucleotide variant Uncertain significance rs202181599 GRCh38 Chromosome 6, 57190559: 57190559
31 RAB23 NM_183227.2(RAB23): c.242-15_242-12dupATTG duplication Uncertain significance rs771643576 GRCh38 Chromosome 6, 57196618: 57196621
32 RAB23 NM_183227.2(RAB23): c.242-15_242-12dupATTG duplication Uncertain significance rs771643576 GRCh37 Chromosome 6, 57061416: 57061419
33 RAB23 NM_183227.2(RAB23): c.-23C> T single nucleotide variant Uncertain significance rs145059995 GRCh37 Chromosome 6, 57075201: 57075201
34 RAB23 NM_183227.2(RAB23): c.-23C> T single nucleotide variant Uncertain significance rs145059995 GRCh38 Chromosome 6, 57210403: 57210403
35 RAB23 NM_183227.2(RAB23): c.-49C> T single nucleotide variant Uncertain significance rs45474592 GRCh37 Chromosome 6, 57075227: 57075227
36 RAB23 NM_183227.2(RAB23): c.-49C> T single nucleotide variant Uncertain significance rs45474592 GRCh38 Chromosome 6, 57210429: 57210429
37 RAB23 NM_183227.2(RAB23): c.*735T> G single nucleotide variant Uncertain significance rs886061652 GRCh37 Chromosome 6, 57054524: 57054524
38 RAB23 NM_183227.2(RAB23): c.*735T> G single nucleotide variant Uncertain significance rs886061652 GRCh38 Chromosome 6, 57189726: 57189726
39 RAB23 NM_183227.2(RAB23): c.*145T> C single nucleotide variant Uncertain significance rs189570356 GRCh37 Chromosome 6, 57055114: 57055114
40 RAB23 NM_183227.2(RAB23): c.*145T> C single nucleotide variant Uncertain significance rs189570356 GRCh38 Chromosome 6, 57190316: 57190316
41 RAB23 NM_183227.2(RAB23): c.398+9G> A single nucleotide variant Uncertain significance rs376839366 GRCh38 Chromosome 6, 57196441: 57196441
42 RAB23 NM_183227.2(RAB23): c.398+9G> A single nucleotide variant Uncertain significance rs376839366 GRCh37 Chromosome 6, 57061239: 57061239
43 RAB23 NM_183227.2(RAB23): c.*1251G> A single nucleotide variant Uncertain significance rs182662 GRCh37 Chromosome 6, 57054008: 57054008
44 RAB23 NM_183227.2(RAB23): c.*1251G> A single nucleotide variant Uncertain significance rs182662 GRCh38 Chromosome 6, 57189210: 57189210
45 RAB23 NM_183227.2(RAB23): c.*1184_*1187dupATCA duplication Uncertain significance rs139778770 GRCh37 Chromosome 6, 57054072: 57054075
46 RAB23 NM_183227.2(RAB23): c.*1184_*1187dupATCA duplication Uncertain significance rs139778770 GRCh38 Chromosome 6, 57189274: 57189277
47 RAB23 NM_183227.2(RAB23): c.*920C> G single nucleotide variant Uncertain significance rs530900959 GRCh38 Chromosome 6, 57189541: 57189541
48 RAB23 NM_183227.2(RAB23): c.*920C> G single nucleotide variant Uncertain significance rs530900959 GRCh37 Chromosome 6, 57054339: 57054339
49 RAB23 NM_183227.2(RAB23): c.*604_*607delAATT deletion Uncertain significance rs886061654 GRCh37 Chromosome 6, 57054652: 57054655
50 RAB23 NM_183227.2(RAB23): c.*604_*607delAATT deletion Uncertain significance rs886061654 GRCh38 Chromosome 6, 57189854: 57189857

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

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of smoothened signaling pathway GO:0045879 8.96 KIF7 MEGF8
2 craniofacial suture morphogenesis GO:0097094 8.62 MEGF8 RAB23

Sources for Carpenter Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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