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 57 20 72 29 6
Carpenter Syndrome 57 12 73 20 43 58 72 36 29 13 6 15
Acrocephalopolysyndactyly Type Ii 57 12 43 72 44
Acrocephalopolysyndactyly Type 2 20 58 70
Acps Ii 57 43 72
Crpt1 57 20 72
Acrocephalosyndactyly, Type Ii 20 43
Acrocephalopolysyndactyly 2 43 72
Acps2 58 72
Type Ii Acrocephalosyndactyly 43
Carpenter Syndrome, Type 1 39
Apert-Crouzon Disease 70
Acps 2 20

Characteristics:

Orphanet epidemiological data:

58
carpenter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
carpenter syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Carpenter Syndrome 1

MedlinePlus Genetics : 43 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.Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger.People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability.Other features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism).A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow.The signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable.The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.

MalaCards based summary : Carpenter Syndrome 1, also known as carpenter syndrome, is related to umbilical hernia and chromosome 2q35 duplication syndrome. An important gene associated with Carpenter Syndrome 1 is RAB23 (RAB23, Member RAS Oncogene Family), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include heart, eye and testes, and related phenotypes are brachydactyly and finger syndactyly

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

GARD : 20 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.

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) (Updated 20-May-2021)

KEGG : 36 Carpenter syndrome is a rare autosomal recessive multiple malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet. Many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported that mutations in MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

UniProtKB/Swiss-Prot : 72 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 : 73 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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 umbilical hernia 30.8 RAB23 MEGF8 GLI3
2 chromosome 2q35 duplication syndrome 30.5 RAB23 GLI3 FGFR2
3 apert syndrome 29.9 RAB23 MEGF8 GLI3 FGFR2
4 carpenter syndrome 2 11.7
5 cole-carpenter syndrome 1 11.6
6 cole-carpenter syndrome 2 11.6
7 corpus callosum, agenesis of, with abnormal genitalia 11.3
8 miles-carpenter syndrome 11.3
9 say carpenter syndrome 11.1
10 kleeblattschaedel 11.0
11 polydactyly 10.4
12 autosomal recessive disease 10.2
13 cryptorchidism, unilateral or bilateral 10.2
14 brittle bone disorder 10.2
15 joubert syndrome 13 10.1 GLI3 ARL13B
16 skin tag 10.1 GLI3 FGFR2
17 synostosis 10.1 RAB23 GLI3 FGFR2
18 brachydactyly 10.1
19 physical disorder 10.1 GLI3 FGFR2 ARL13B
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.0 RAB8A RAB39B RAB38 GLI3
21 griscelli syndrome 10.0 RAB8A RAB7A RAB38 RAB11A
22 summitt syndrome 10.0
23 patent ductus arteriosus 1 10.0
24 congenital diarrhea 10.0 RAB8A RAB11A
25 cole-carpenter syndrome 10.0
26 hydrocephalus 10.0
27 craniosynostosis 10.0
28 exophthalmos 10.0
29 parkinson disease, late-onset 9.9 RAB8A RAB7A RAB39B RAB11A RAB10 BAG2
30 warburg micro syndrome 9.9 RAB7A RAB39B RAB38 RAB23 RAB21 RAB10
31 craniosynostosis 1 9.9
32 hair whorl 9.9
33 dowling-degos disease 1 9.9
34 schizophrenia 9.9
35 neural tube defects 9.9
36 tetralogy of fallot 9.9
37 acrocephalopolysyndactyly type iv 9.9
38 bone mineral density quantitative trait locus 3 9.9
39 osteogenesis imperfecta, type vii 9.9
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
41 tooth agenesis 9.9
42 scoliosis 9.9
43 dextro-looped transposition of the great arteries 9.9
44 sensorineural hearing loss 9.9
45 ventricular septal defect 9.9
46 heart septal defect 9.9
47 optic nerve disease 9.9
48 hypogonadism 9.9
49 osteochondrodysplasia 9.9
50 cystic lymphangioma 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:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 obligate (100%) Obligate (100%) HP:0001156
2 finger syndactyly 58 31 obligate (100%) Obligate (100%) HP:0006101
3 toe syndactyly 58 31 obligate (100%) Obligate (100%) HP:0001770
4 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
7 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
8 oxycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000263
9 external genital hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003241
10 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
11 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
12 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
13 cloverleaf skull 58 31 frequent (33%) Frequent (79-30%) HP:0002676
14 preaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001841
15 abnormal cornea morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000481
16 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
17 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
18 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
19 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
20 polysplenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001748
21 scoliosis 31 HP:0002650
22 high palate 31 HP:0000218
23 short neck 31 HP:0000470
24 precocious puberty 31 HP:0000826
25 depressed nasal bridge 31 HP:0005280
26 sensorineural hearing impairment 31 HP:0000407
27 optic atrophy 31 HP:0000648
28 short stature 31 HP:0004322
29 brachycephaly 31 HP:0000248
30 opacification of the corneal stroma 31 HP:0007759
31 metatarsus adductus 31 HP:0001840
32 micrognathia 31 HP:0000347
33 low-set ears 31 HP:0000369
34 epicanthus 31 HP:0000286
35 atrial septal defect 31 HP:0001631
36 abnormal skull morphology 58 Very frequent (99-80%)
37 hypoplasia of the maxilla 31 HP:0000327
38 conductive hearing impairment 31 HP:0000405
39 clinodactyly of the 5th finger 31 HP:0004209
40 tetralogy of fallot 31 HP:0001636
41 hydronephrosis 31 HP:0000126
42 malar flattening 31 HP:0000272
43 turricephaly 58 Frequent (79-30%)
44 telecanthus 31 HP:0000506
45 ventricular septal defect 31 HP:0001629
46 sacral dimple 31 HP:0000960
47 pulmonic stenosis 31 HP:0001642
48 spina bifida occulta 31 HP:0003298
49 genu varum 31 HP:0002970
50 microcornea 31 HP:0000482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
spina bifida occulta
pilonidal dimple
absent coccyx

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

Head And Neck Head:
brachycephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Weight:
obesity

Skeletal Hands:
brachydactyly
camptodactyly
clinodactyly
syndactyly
postaxial polydactyly

Genitourinary Kidneys:
hydronephrosis

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)

Endocrine Features:
precocious puberty

Abdomen External Features:
umbilical hernia
omphalocele

Skeletal Limbs:
genu valgum
lateral displacement of patellae

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

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

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

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

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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.86 RAB11A RAB17
2 Decreased viability GR00249-S 9.86 BAG2 FGFR2
3 Decreased viability GR00301-A 9.86 FGFR2
4 Decreased viability GR00342-S-1 9.86 FGFR2
5 Decreased viability GR00342-S-2 9.86 FGFR2
6 Decreased viability GR00342-S-3 9.86 FGFR2
7 Decreased viability GR00381-A-1 9.86 CPLANE2 P4HB RAB10
8 Decreased viability GR00386-A-1 9.86 RAB10 RAB28
9 Decreased viability GR00402-S-2 9.86 MEGF8 RAB21 RAB23
10 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 ARL13B P4HB RAB11A RAB23 RAB28 RAB2B

MGI Mouse Phenotypes related to Carpenter Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.85 ARL13B FGFR2 GLI3 MEGF8 P4HB RAB10
2 respiratory system MP:0005388 9.5 ARL13B CPLANE2 FGFR2 GLI3 MEGF8 RAB38
3 vision/eye MP:0005391 9.4 ARL13B CPLANE2 FGFR2 GLI3 MEGF8 RAB10

Drugs & Therapeutics for Carpenter Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improving Advance Care Planning for Frail, Elderly Residents in Canadian Nursing Homes: A Subproject of the BABEL Study (Better tArgetting, Better Outcomes for Frail ELderly Patients) Completed NCT03649191
2 A Media Communication Intervention to Increase Engagement in Advance Care Planning Among Advanced Cancer Patients Recruiting NCT04208009

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:

40
Heart, Eye, Testes, Bone, Skin, Kidney, Liver

Publications for Carpenter Syndrome 1

Articles related to Carpenter Syndrome 1:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Prenatal findings in carpenter syndrome and a novel mutation in RAB23. 57 6 61
25168863 2014
2
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. 61 6 57
20358613 2010
3
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. 57 6 61
17503333 2007
4
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. 61 6
24458945 2014
5
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. 6 61
23599695 2013
6
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. 6 61
23063620 2012
7
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. 61 6
21412941 2011
8
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. 61 57
2309763 1990
9
Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. 61 57
3322002 1987
10
Carpenter syndrome: natural history and clinical spectrum. 57 61
3993675 1985
11
Normal intelligence in two children with Carpenter syndrome. 57 61
263437 1978
12
Carpenter syndrome--acrocephalopolysyndactyly type II. 61 57
4370930 1974
13
Craniosynostosis-syndactylism. 57
5769296 1969
14
Carpenter's syndrome: acrocephalopolysyndactyly. An autosomal recessive syndrome. 57
5935752 1966
15
[On 2 unusual cases of dyscranio-dysphalangia in siblings (atypical acrocephalosyndactylia and questionable splanchonocystic dysencephalia]. 57
5987027 1966
16
Acrocephalosyndactyly, a case with congenital cardiac abnormalities. 57
14895920 1952
17
Acrocephaly, with other Congenital Malformations. 57
19974019 1909
18
Carpenter syndrome in a patient from Tanzania. 61
33368989 2021
19
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. 61
33707149 2021
20
A molecular dynamics approach on the Y393C variant of protein disulfide isomerase A1. 61
32352225 2020
21
Generalized hyperpigmentation of skin: A case of Carpenter syndrome. 61
32769309 2020
22
RAB23 coordinates early osteogenesis by repressing FGF10-pERK1/2 and GLI1. 61
32662771 2020
23
Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development. 61
32203821 2020
24
Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies. 61
31465935 2019
25
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. 61
30462379 2018
26
Cole-Carpenter syndrome in a patient from Thailand. 61
30063094 2018
27
The Drosophila homologue of MEGF8 is essential for early development. 61
29884872 2018
28
P4HB recurrent missense mutation causing Cole-Carpenter syndrome. 61
29263160 2018
29
Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report. 61
29384951 2017
30
[Co-occurrence of Carpenter syndrome and double outlet right ventricle]. 61
28694400 2017
31
ZC4H2 deletions can cause severe phenotype in female carriers. 61
28345801 2017
32
Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia. 61
28593893 2017
33
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes. 61
26914936 2016
34
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus. 61
26495167 2015
35
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 61
26056227 2015
36
CRTAP mutation in a patient with Cole-Carpenter syndrome. 61
25604815 2015
37
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. 61
25683117 2015
38
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. 61
25683121 2015
39
Carpenter syndrome: a review for the craniofacial surgeon. 61
25162549 2014
40
Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. 61
23706836 2013
41
Thyroid autoimmunity and polyglandular endocrine syndromes. 61
23624130 2013
42
Carpenter syndrome: a case report. 61
22828559 2012
43
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 61
21326280 2011
44
Hedgehog signaling update. 61
20635334 2010
45
[Optic neuropathy in Schmidt-Carpenter syndrome]. 61
20376461 2010
46
Sudden death in a child with Carpenter Syndrome. Case report and literature review. 61
19924577 2009
47
Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes. 61
19293680 2009
48
Carpenter syndrome. 61
19165041 2009
49
Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). 61
19076584 2008
50
The Greig cephalopolysyndactyly syndrome. 61
18435847 2008

Variations for Carpenter Syndrome 1

ClinVar genetic disease variations for Carpenter Syndrome 1:

6 (show top 50) (show all 246)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB23 NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) SNV Pathogenic 4591 rs121908171 GRCh37: 6:57059615-57059615
GRCh38: 6:57194817-57194817
2 RAB23 NM_016277.5(RAB23):c.408dup (p.Glu137Ter) Duplication Pathogenic 4592 rs1438138090 GRCh37: 6:57059640-57059641
GRCh38: 6:57194842-57194843
3 RAB23 NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) Duplication Pathogenic 18426 rs1593223800 GRCh37: 6:57075092-57075093
GRCh38: 6:57210294-57210295
4 MEGF8 NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) SNV Pathogenic 39845 rs397515427 GRCh37: 19:42861000-42861000
GRCh38: 19:42356848-42356848
5 MEGF8 NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) SNV Pathogenic 39846 rs397515428 GRCh37: 19:42879689-42879689
GRCh38: 19:42375537-42375537
6 MEGF8 NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) SNV Pathogenic 39847 rs397514621 GRCh37: 19:42841056-42841056
GRCh38: 19:42336904-42336904
7 MEGF8 G199R SNV Pathogenic 39848 GRCh37:
GRCh38:
8 RAB23 NM_016277.5(RAB23):c.481G>C (p.Val161Leu) SNV Pathogenic 417740 rs1060505026 GRCh37: 6:57059568-57059568
GRCh38: 6:57194770-57194770
9 MEGF8 NM_001271938.2(MEGF8):c.1788+1G>C SNV Pathogenic 561058 rs1206116606 GRCh37: 19:42848226-42848226
GRCh38: 19:42344074-42344074
10 MEGF8 NC_000019.10:g.(?_42370701)_(42370831_?)del Deletion Pathogenic 584047 GRCh37: 19:42874853-42874983
GRCh38: 19:42370701-42370831
11 RAB23 NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) SNV Pathogenic 4591 rs121908171 GRCh37: 6:57059615-57059615
GRCh38: 6:57194817-57194817
12 RAB23 NM_016277.5(RAB23):c.5del (p.Leu2fs) Deletion Pathogenic 664887 rs1593223920 GRCh37: 6:57075174-57075174
GRCh38: 6:57210376-57210376
13 RAB23 NC_000006.12:g.(?_57186982)_(57222324_?)del Deletion Pathogenic 832125 GRCh37: 6:57051780-57087122
GRCh38:
14 RAB23 NM_016277.5(RAB23):c.17del (p.Met6fs) Deletion Pathogenic 954806 GRCh37: 6:57075162-57075162
GRCh38: 6:57210364-57210364
15 MEGF8 NM_001271938.2(MEGF8):c.5176C>T (p.Arg1726Ter) SNV Pathogenic 1033837 GRCh37: 19:42862939-42862939
GRCh38: 19:42358787-42358787
16 RAB23 NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) SNV Pathogenic 963114 GRCh37: 6:57075037-57075037
GRCh38: 6:57210239-57210239
17 RAB23 NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) SNV Pathogenic 280858 rs765443042 GRCh37: 6:57075097-57075097
GRCh38: 6:57210299-57210299
18 MEGF8 NM_001271938.2(MEGF8):c.739G>T (p.Gly247Cys) SNV Likely pathogenic 995802 GRCh37: 19:42839367-42839367
GRCh38: 19:42335215-42335215
19 MEGF8 NM_001271938.2(MEGF8):c.3351-2A>C SNV Likely pathogenic 931220 GRCh37: 19:42857078-42857078
GRCh38: 19:42352926-42352926
20 RAB23 NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) SNV Conflicting interpretations of pathogenicity 357644 rs45479896 GRCh37: 6:57061345-57061345
GRCh38: 6:57196547-57196547
21 RAB23 NM_016277.5(RAB23):c.-49C>T SNV Uncertain significance 357647 rs45474592 GRCh37: 6:57075227-57075227
GRCh38: 6:57210429-57210429
22 MEGF8 NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) SNV Uncertain significance 473334 rs150607375 GRCh37: 19:42863044-42863044
GRCh38: 19:42358892-42358892
23 MEGF8 NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) SNV Uncertain significance 473331 rs1229026252 GRCh37: 19:42860087-42860087
GRCh38: 19:42355935-42355935
24 RAB23 NM_016277.5(RAB23):c.*544G>A SNV Uncertain significance 357636 rs138311113 GRCh37: 6:57054715-57054715
GRCh38: 6:57189917-57189917
25 BAG2 , RAB23 NM_016277.5(RAB23):c.*920C>G SNV Uncertain significance 357630 rs530900959 GRCh37: 6:57054339-57054339
GRCh38: 6:57189541-57189541
26 BAG2 , RAB23 NM_016277.5(RAB23):c.*722T>C SNV Uncertain significance 357633 rs143345846 GRCh37: 6:57054537-57054537
GRCh38: 6:57189739-57189739
27 RAB23 NM_016277.5(RAB23):c.714A>G (p.Ter238=) SNV Uncertain significance 357639 rs142290596 GRCh37: 6:57055259-57055259
GRCh38: 6:57190461-57190461
28 BAG2 , RAB23 NM_016277.5(RAB23):c.*1180_*1183ATCA[3] Microsatellite Uncertain significance 357628 rs139778770 GRCh37: 6:57054071-57054072
GRCh38: 6:57189273-57189274
29 BAG2 , RAB23 NM_016277.5(RAB23):c.*1665_*1667dup Duplication Uncertain significance 357625 rs886061651 GRCh37: 6:57053591-57053592
GRCh38: 6:57188793-57188794
30 RAB23 NM_016277.5(RAB23):c.242-31ATTG[6] Microsatellite Uncertain significance 357645 rs45542438 GRCh37: 6:57061415-57061416
GRCh38: 6:57196617-57196618
31 RAB23 NM_016277.5(RAB23):c.*618A>G SNV Uncertain significance 357634 rs886061653 GRCh37: 6:57054641-57054641
GRCh38: 6:57189843-57189843
32 RAB23 NM_016277.5(RAB23):c.398+9G>A SNV Uncertain significance 357643 rs376839366 GRCh37: 6:57061239-57061239
GRCh38: 6:57196441-57196441
33 RAB23 NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) SNV Uncertain significance 70495 rs145669565 GRCh37: 6:57072428-57072428
GRCh38: 6:57207630-57207630
34 BAG2 , RAB23 NM_016277.5(RAB23):c.*735T>G SNV Uncertain significance 357632 rs886061652 GRCh37: 6:57054524-57054524
GRCh38: 6:57189726-57189726
35 RAB23 NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) SNV Uncertain significance 357641 rs202181599 GRCh37: 6:57055357-57055357
GRCh38: 6:57190559-57190559
36 RAB23 NM_016277.5(RAB23):c.*145T>C SNV Uncertain significance 357638 rs189570356 GRCh37: 6:57055114-57055114
GRCh38: 6:57190316-57190316
37 RAB23 NM_016277.5(RAB23):c.*600_*603AATT[1] Microsatellite Uncertain significance 357635 rs886061654 GRCh37: 6:57054652-57054655
GRCh38: 6:57189854-57189857
38 BAG2 , RAB23 NM_016277.5(RAB23):c.*1251G>A SNV Uncertain significance 357627 rs182662 GRCh37: 6:57054008-57054008
GRCh38: 6:57189210-57189210
39 MEGF8 NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) SNV Uncertain significance 561155 rs781096678 GRCh37: 19:42856518-42856518
GRCh38: 19:42352366-42352366
40 MEGF8 NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) SNV Uncertain significance 561156 rs772768716 GRCh37: 19:42872643-42872643
GRCh38: 19:42368491-42368491
41 MEGF8 NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) SNV Uncertain significance 565484 rs139192223 GRCh37: 19:42879956-42879956
GRCh38: 19:42375804-42375804
42 MEGF8 NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) SNV Uncertain significance 565908 rs913420234 GRCh37: 19:42861581-42861581
GRCh38: 19:42357429-42357429
43 MEGF8 NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) SNV Uncertain significance 566132 rs372350131 GRCh37: 19:42873013-42873013
GRCh38: 19:42368861-42368861
44 RAB23 NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) SNV Uncertain significance 566458 rs748398827 GRCh37: 6:57061309-57061309
GRCh38: 6:57196511-57196511
45 MEGF8 NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) SNV Uncertain significance 567834 rs746031284 GRCh37: 19:42854453-42854453
GRCh38: 19:42350301-42350301
46 MEGF8 NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) SNV Uncertain significance 569417 rs73033442 GRCh37: 19:42874895-42874895
GRCh38: 19:42370743-42370743
47 MEGF8 NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) SNV Uncertain significance 569536 rs777017134 GRCh37: 19:42854489-42854489
GRCh38: 19:42350337-42350337
48 MEGF8 NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) SNV Uncertain significance 546842 rs141383715 GRCh37: 19:42855822-42855822
GRCh38: 19:42351670-42351670
49 MEGF8 NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) SNV Uncertain significance 571142 rs1568568653 GRCh37: 19:42859949-42859949
GRCh38: 19:42355797-42355797
50 MEGF8 NM_001271938.2(MEGF8):c.1391-3C>T SNV Uncertain significance 571488 rs377586547 GRCh37: 19:42841233-42841233
GRCh38: 19:42337081-42337081

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

72
# Symbol AA change Variation ID SNP ID
1 RAB23 p.Cys85Arg VAR_034902
2 RAB23 p.Met12Lys VAR_065294

Expression for Carpenter Syndrome 1

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

Pathways for Carpenter Syndrome 1

GO Terms for Carpenter Syndrome 1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.44 SUSD1 RAB8A RAB7A RAB39B RAB38 RAB2B
2 plasma membrane GO:0005886 10.34 RAB8A RAB7A RAB39B RAB38 RAB2B RAB28
3 extracellular exosome GO:0070062 10.16 RAB8A RAB7A RAB2B RAB21 RAB17 RAB11A
4 Golgi apparatus GO:0005794 10.03 RAB8A RAB39B RAB38 RAB2B RAB21 RAB11A
5 cell projection GO:0042995 10.01 RAB8A RAB28 RAB21 RAB17 RAB10 GLI3
6 Golgi membrane GO:0000139 9.97 RAB8A RAB39B RAB2B RAB21 RAB10
7 endosome GO:0005768 9.91 RAB8A RAB7A RAB23 RAB21 RAB17 RAB11A
8 cilium GO:0005929 9.88 RAB8A RAB10 GLI3 CPLANE2 ARL13B
9 endosome membrane GO:0010008 9.87 RAB7A RAB23 RAB21 RAB10
10 trans-Golgi network GO:0005802 9.8 RAB38 RAB21 RAB11A RAB10
11 recycling endosome GO:0055037 9.76 RAB17 RAB11A RAB10
12 cytoplasmic vesicle membrane GO:0030659 9.76 RAB39B RAB21 RAB11A RAB10
13 melanosome GO:0042470 9.73 RAB38 RAB17 P4HB
14 endomembrane system GO:0012505 9.65 RAB38 RAB28 RAB23 RAB21 RAB17
15 recycling endosome membrane GO:0055038 9.62 RAB8A RAB17 RAB11A RAB10
16 melanosome membrane GO:0033162 9.55 RAB7A RAB38
17 phagocytic vesicle GO:0045335 9.55 RAB8A RAB7A RAB38 RAB23 RAB11A
18 phagocytic vesicle membrane GO:0030670 9.35 RAB8A RAB7A RAB38 RAB23 RAB10
19 cytoplasmic vesicle GO:0031410 9.28 RAB8A RAB7A RAB39B RAB38 RAB23 RAB21

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.86 RAB8A RAB38 RAB11A P4HB
2 intracellular protein transport GO:0006886 9.72 RAB38 RAB28 RAB23 RAB21 RAB17
3 axonogenesis GO:0007409 9.67 RAB8A RAB10 FGFR2
4 vesicle-mediated transport GO:0016192 9.65 RAB39B RAB38 RAB2B RAB11A RAB10
5 negative regulation of smoothened signaling pathway GO:0045879 9.58 MEGF8 GLI3
6 limb morphogenesis GO:0035108 9.57 MEGF8 GLI3
7 melanosome transport GO:0032402 9.55 RAB17 RAB11A
8 cilium assembly GO:0060271 9.55 RAB8A RAB23 RAB17 CPLANE2 ARL13B
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.54 RAB8A RAB11A
10 embryonic digestive tract morphogenesis GO:0048557 9.52 GLI3 FGFR2
11 Rab protein signal transduction GO:0032482 9.51 RAB39B RAB21
12 establishment of protein localization to membrane GO:0090150 9.48 RAB11A RAB10
13 vesicle-mediated transport in synapse GO:0099003 9.46 RAB8A RAB11A
14 craniofacial suture morphogenesis GO:0097094 9.43 RAB23 MEGF8
15 neurotransmitter receptor transport, endosome to postsynaptic membrane GO:0098887 9.4 RAB8A RAB11A
16 regulation of protein transport GO:0051223 9.37 RAB8A RAB11A
17 protein transport GO:0015031 9.36 RAB8A RAB7A RAB39B RAB38 RAB2B RAB23
18 regulation of exocytosis GO:0017157 9.26 RAB8A RAB21 RAB10 CPLANE2

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10 RAB8A RAB7A RAB39B RAB38 RAB2B RAB28
2 GDP binding GO:0019003 9.73 RAB8A RAB7A RAB28 RAB21 RAB17 RAB10
3 GTPase activity GO:0003924 9.73 RAB8A RAB7A RAB39B RAB38 RAB2B RAB28
4 myosin V binding GO:0031489 9.62 RAB8A RAB39B RAB11A RAB10
5 GTP binding GO:0005525 9.44 RAB8A RAB7A RAB39B RAB38 RAB2B RAB28

Sources for Carpenter Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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