CMEMS
MCID: CST001
MIFTS: 68

Costello Syndrome (CMEMS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Costello Syndrome

Aliases & Descriptions for Costello Syndrome:

Name: Costello Syndrome 54 12 23 50 24 25 56 66 29 42 14 69
Faciocutaneoskeletal Syndrome 12 50 25 56 66
Fcs Syndrome 12 50 25 56 66
Congenital Myopathy with Excess of Muscle Spindles 54 66 29 13
Myopathy, Congenital, with Excess of Muscle Spindles 69
Cmems 66
Cstlo 66
Fcss 66

Characteristics:

Orphanet epidemiological data:

56
costello syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Japan); Age of onset: Antenatal,Neonatal;

GeneReviews:

23
costello syndrome:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance sporadic


GeneReviews:

23
Penetrance Penetrance is complete [aoki et al 2005, estep et al 2006, gripp et al 2006a, kerr et al 2006]...

Classifications:



External Ids:

OMIM 54 218040
Disease Ontology 12 DOID:0050469
MeSH 42 D056685
NCIt 47 C84652
SNOMED-CT 64 205803001 309776008
Orphanet 56 ORPHA3071
MESH via Orphanet 43 D056685
UMLS via Orphanet 70 C0587248
ICD10 via Orphanet 34 Q87.8
ICD10 33 G71.2
UMLS 69 C0587248

Summaries for Costello Syndrome

NIH Rare Diseases : 50 costello syndrome is a rare condition that affects many different parts of the body. signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. beginning in early childhood, people with costello syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. costello syndrome is caused by changes (mutations) in the hras gene. it is considered an autosomal dominant condition, but almost all cases are the result of de novo gene mutations and occur in people with no family history of the condition. treatment is based on the signs and symptoms present in each person. costello syndrome belongs to a group of related conditions called the rasopathies. these conditions have some overlapping features and are all caused by genetic changes that disrupt the body's ras pathway, affecting growth and development. the features of costello syndrome overlap significantly with two of the rasopathies, cardiofaciocutaneous (cfc) syndrome and noonan syndrome. last updated: 3/9/2016

MalaCards based summary : Costello Syndrome, also known as faciocutaneoskeletal syndrome, is related to cardiofaciocutaneous syndrome and cutis laxa, ad, and has symptoms including macrocephaly, short neck and intellectual disability. An important gene associated with Costello Syndrome is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are HIV Life Cycle and TGF-Beta Pathway. The drugs Dexamethasone and Bortezomib have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are Decreased cell migration and cardiovascular system

Disease Ontology : 12 A syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.

Genetics Home Reference : 25 Costello syndrome is a disorder that affects many parts of the body. This condition is characterized by delayed development and intellectual disability, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, and distinctive facial features including a large mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), structural heart defects, and a type of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be larger than average at birth, but most have difficulty feeding and grow more slowly than other children. People with this condition have relatively short stature and may have reduced growth hormone levels. Other signs and symptoms of Costello syndrome can include tight Achilles tendons (which connect the calf muscles to the heel), weak muscle tone (hypotonia), a structural abnormality of the brain called a Chiari I malformation, skeletal abnormalities, dental problems, and problems with vision.

OMIM : 54 Costello syndrome is a rare multiple congenital anomaly syndrome associated in all cases with a characteristic coarse... (218040) more...

UniProtKB/Swiss-Prot : 66 Congenital myopathy with excess of muscle spindles: Variant of Costello syndrome. Costello syndrome: A rare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy and/or atrial tachycardia), tumor predisposition, skin and musculoskeletal abnormalities.

Wikipedia : 71 Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder... more...

GeneReviews: NBK1507

Related Diseases for Costello Syndrome

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

(show top 50) (show all 78)
id Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 11.3
2 cutis laxa, ad 10.8
3 noonan syndrome 1 10.8
4 parotid gland adenoid cystic carcinoma 10.2 HRAS MAP2K1
5 malignant skin fibrous histiocytoma 10.2 HRAS KRAS
6 chronic venous insufficiency 10.2 HRAS KRAS
7 growth hormone insensitivity with immunodeficiency 10.2 MAP2K2 PTPN11
8 severe pre-eclampsia 10.2 HRAS KRAS
9 nephrolithiasis 10.2 HRAS PTPN11
10 erythrocyte lactate transporter defect 10.2 HRAS KRAS
11 melanocytic nevus syndrome, congenital, somatic 10.2 HRAS KRAS
12 bile duct disease 10.2 HRAS KRAS
13 postpoliomyelitis syndrome 10.2 HRAS KRAS
14 precursor t-lymphoblastic lymphoma/leukemia 10.2 HRAS KRAS
15 gonococcal seminal vesiculitis 10.2 HRAS KRAS
16 pelvic inflammatory disease 10.2 HRAS KRAS
17 kidney clear cell sarcoma 10.2 HRAS KRAS
18 polyp of middle ear 10.1 MAP2K1 MAP2K2
19 cervical serous adenocarcinoma 10.1 HRAS KRAS
20 breast mucinous cystadenocarcinoma 10.1 HRAS KRAS
21 uterine corpus endometrial stromal sarcoma 10.1 HRAS KRAS
22 rhabdomyosarcoma 10.1
23 skin epithelioid hemangioma 10.1 HRAS MAP2K1 PTPN11
24 striated muscle rhabdoid tumor 10.1 HRAS KRAS
25 vulvar apocrine adenocarcinoma 10.1 PTPN11 SOS1
26 papillary adenofibroma 10.1 HRAS KRAS
27 vulvar sebaceous carcinoma 10.1 PTPN11 SOS1
28 spongiotic dermatitis 10.1 HRAS KRAS MAP2K1
29 medullary cystic kidney disease 1 10.1 HRAS KRAS PTPN11
30 bilateral hypoactive labyrinth 10.1 HRAS KRAS
31 aicardi-goutieres syndrome 10.1 HRAS KRAS
32 glomeruloid hemangioma 10.1 HRAS KRAS PTPN11
33 tabes dorsalis 10.0 HRAS KRAS
34 cardiomyopathy 10.0
35 embryonal rhabdomyosarcoma 10.0
36 pseudomonas stutzeri infections 10.0 KRAS PTPN11 SOS1
37 rdh12-related leber congenital amaurosis 9.9 KRAS PTPN11 SOS1
38 ossifying fibromyxoid tumor 9.9 HRAS KRAS
39 cutis laxa 9.9
40 pancreatitis 9.9
41 hypoglycemia 9.9
42 chromosome 15q11-q13 duplication syndrome 9.9 HRAS MAP2K1 PTPN11 SOS1
43 hyperinsulinemic hypoglycemia 9.8
44 growth hormone deficiency 9.8
45 syndactyly-polydactyly-earlobe syndrome 9.8 HRAS KRAS MAP2K1 MAP2K2 PTPN11
46 beckwith-wiedemann syndrome 9.8
47 scoliosis 9.8
48 polyhydramnios 9.8
49 neurofibromatosis 9.8
50 papilloma 9.8

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



Diseases related to Costello Syndrome

Symptoms & Phenotypes for Costello Syndrome

Symptoms by clinical synopsis from OMIM:

218040

Clinical features from OMIM:

218040

Human phenotypes related to Costello Syndrome:

56 32 (show top 50) (show all 97)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
2 short neck 56 32 Very frequent (99-80%) HP:0000470
3 intellectual disability 56 32 Frequent (79-30%) HP:0001249
4 large face 56 32 Occasional (29-5%) HP:0100729
5 macroglossia 56 32 Frequent (79-30%) HP:0000158
6 narrow palate 56 32 Very frequent (99-80%) HP:0000189
7 coarse facial features 56 32 Occasional (29-5%) HP:0000280
8 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
9 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
10 short stature 56 32 Very frequent (99-80%) HP:0004322
11 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
12 hypertrophic cardiomyopathy 56 32 Frequent (79-30%) HP:0001639
13 full cheeks 56 32 Frequent (79-30%) HP:0000293
14 hyperkeratosis 56 32 Very frequent (99-80%) HP:0000962
15 acanthosis nigricans 56 32 Very frequent (99-80%) HP:0000956
16 thick lower lip vermilion 56 32 Frequent (79-30%) HP:0000179
17 strabismus 56 32 Frequent (79-30%) HP:0000486
18 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
19 epicanthus 56 32 Frequent (79-30%) HP:0000286
20 lack of skin elasticity 56 32 Very frequent (99-80%) HP:0100679
21 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
22 thickened nuchal skin fold 56 32 Frequent (79-30%) HP:0000474
23 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
24 hypoplastic toenails 56 32 Frequent (79-30%) HP:0001800
25 abnormal dermatoglyphics 56 32 Frequent (79-30%) HP:0007477
26 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
27 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
28 mitral valve prolapse 56 32 Frequent (79-30%) HP:0001634
29 abnormality of dental enamel 56 32 Frequent (79-30%) HP:0000682
30 polyhydramnios 56 32 Frequent (79-30%) HP:0001561
31 ventricular septal defect 56 32 Very frequent (99-80%) HP:0001629
32 failure to thrive in infancy 56 32 Very frequent (99-80%) HP:0001531
33 redundant skin 56 32 Very frequent (99-80%) HP:0001582
34 pulmonic stenosis 56 32 Very frequent (99-80%) HP:0001642
35 ulnar deviation of finger 56 32 Frequent (79-30%) HP:0009465
36 large earlobe 56 32 Occasional (29-5%) HP:0009748
37 keratoconus 56 32 Frequent (79-30%) HP:0000563
38 generalized hyperpigmentation 56 32 Occasional (29-5%) HP:0007440
39 papilloma 56 32 Frequent (79-30%) HP:0012740
40 woolly hair 56 32 Very frequent (99-80%) HP:0002224
41 thickened achilles tendon 56 32 Frequent (79-30%) HP:0004690
42 concave nail 56 32 Very frequent (99-80%) HP:0001598
43 deep-set nails 56 32 Very frequent (99-80%) HP:0001814
44 poor suck 56 32 Occasional (29-5%) HP:0002033
45 thin nail 32 HP:0001816
46 hypertelorism 32 HP:0000316
47 low-set ears 32 HP:0000369
48 high palate 32 HP:0000218
49 hydrocephalus 32 HP:0000238
50 ptosis 32 HP:0000508

UMLS symptoms related to Costello Syndrome:


hoarseness, koilonychia

GenomeRNAi Phenotypes related to Costello Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 HRAS KRAS MAP2K2 SOS1

MGI Mouse Phenotypes related to Costello Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.98 HRAS KRAS MAP2K1 MAP2K2 MFAP2 PTPN11
2 craniofacial MP:0005382 9.95 CHST11 HRAS KRAS MAP2K1 MAP2K2 PTPN11
3 growth/size/body region MP:0005378 9.86 CHST11 HRAS KRAS MAP2K1 MAP2K2 MFAP2
4 endocrine/exocrine gland MP:0005379 9.8 MAP2K2 PTPN11 SOS1 HRAS KRAS MAP2K1
5 digestive/alimentary MP:0005381 9.77 KRAS MAP2K1 MAP2K2 PTPN11 SOS1
6 integument MP:0010771 9.63 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
7 neoplasm MP:0002006 9.35 HRAS KRAS MAP2K1 MAP2K2 PTPN11
8 skeleton MP:0005390 9.23 CHST11 HRAS KRAS MAP2K1 MAP2K2 MFAP2

Drugs & Therapeutics for Costello Syndrome

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

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
2
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
3
Lenalidomide Approved Phase 3 191732-72-6 216326
4 Dexamethasone acetate Phase 3 1177-87-3
5 glucocorticoids Phase 3
6
protease inhibitors Phase 3
7 Gastrointestinal Agents Phase 3
8 HIV Protease Inhibitors Phase 3
9 Hormone Antagonists Phase 3
10 Dexamethasone 21-phosphate Phase 3
11 Hormones Phase 3
12 Peripheral Nervous System Agents Phase 3
13 Angiogenesis Inhibitors Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
15 Angiogenesis Modulating Agents Phase 3
16 Anti-Bacterial Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Immunosuppressive Agents Phase 3
19 Antiemetics Phase 3
20 Anti-Inflammatory Agents Phase 3
21 BB 1101 Phase 3
22 Autonomic Agents Phase 3
23 Antineoplastic Agents, Hormonal Phase 3
24
nivolumab Approved Phase 1 946414-94-4
25 Immunoglobulins Phase 1
26 Antibodies, Monoclonal Phase 1
27 Antibodies Phase 1
28
Azacitidine Approved, Investigational 320-67-2 9444
29 Anesthetics
30 Antimetabolites
31 Antimetabolites, Antineoplastic

Interventional clinical trials:


id Name Status NCT ID Phase
1 Randomized Trial of Lenalidomide, Bortezomib, Dexamethasone vs High-Dose Treatment With SCT in MM Patients up to Age 65 Recruiting NCT01208662 Phase 3
2 Ipilimumab or Nivolumab in Treating Patients With Relapsed Hematologic Malignancies After Donor Stem Cell Transplant Recruiting NCT01822509 Phase 1
3 Pathophysiology Analysis of "Costello Syndrome" on Cellular Models Completed NCT02812511
4 Cohort of HIV Associated Lymphomas Active, not recruiting NCT01164436
5 Evaluation of Cytidine Deaminase for Patient Suffering of a Myelodysplastic Syndrom or an AML Treated by Azacytidine Not yet recruiting NCT02489929

Search NIH Clinical Center for Costello Syndrome

Cochrane evidence based reviews: costello syndrome

Genetic Tests for Costello Syndrome

Genetic tests related to Costello Syndrome:

id Genetic test Affiliating Genes
1 Costello Syndrome 29 24 HRAS
2 Myopathy, Congenital, with Excess of Muscle Spindles 29

Anatomical Context for Costello Syndrome

MalaCards organs/tissues related to Costello Syndrome:

39
Heart, Skin, Brain, Cerebellum, Tongue, Spinal Cord, Pancreatic Islet

Publications for Costello Syndrome

Articles related to Costello Syndrome:

(show top 50) (show all 226)
id Title Authors Year
1
Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser. ( 28141901 )
2017
2
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. ( 28337834 )
2017
3
A comparison of the functional health of children with Costello syndrome in 1999 and in 2015. ( 28488342 )
2017
4
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update. ( 28328122 )
2017
5
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature. ( 28203467 )
2017
6
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. ( 28371260 )
2017
7
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient. ( 28421158 )
2017
8
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. ( 28139825 )
2017
9
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. ( 28374929 )
2017
10
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. ( 28455154 )
2017
11
Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models. ( 28455524 )
2017
12
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. ( 26740656 )
2016
13
Respiratory system involvement in Costello syndrome. ( 27102959 )
2016
14
Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure. ( 26778095 )
2016
15
EP05.10: Doppler assessment of hypertrophic cardiomyopathy in a case of Costello syndrome. ( 27647476 )
2016
16
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin. ( 28008647 )
2016
17
Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation. ( 26812928 )
2016
18
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. ( 28027064 )
2016
19
Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome. ( 27705751 )
2016
20
Prenatal findings of hypertrophic cardiomyopathy in a severe case of Costello syndrome. ( 26916728 )
2016
21
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. ( 27195699 )
2016
22
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome. ( 26190969 )
2015
23
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model. ( 26138095 )
2015
24
Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with Costello syndrome: Case report and review of the literature. ( 25668678 )
2015
25
Anaesthetic Management in Costello Syndrome. ( 27366541 )
2015
26
Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. ( 25815234 )
2015
27
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. ( 26572961 )
2015
28
Human papilloma virus-infected genital warts in a girl with Costello syndrome. ( 25787333 )
2015
29
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. ( 25677562 )
2015
30
Dysregulation of astrocyte extracellular signaling in Costello syndrome. ( 25947161 )
2015
31
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. ( 25914166 )
2015
32
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding. ( 26246091 )
2015
33
Decreased bone mineral density in Costello syndrome. ( 24246682 )
2014
34
Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome. ( 25346259 )
2014
35
Cardiac events in Costello syndrome: One case and a review of the literature. ( 24719541 )
2014
36
Craniofacial and dental development in Costello syndrome. ( 24668879 )
2014
37
Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome. ( 25250515 )
2014
38
Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease. ( 25133308 )
2014
39
Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation. ( 24057668 )
2014
40
Behavioral phenotype in Costello syndrome with atypical mutation: A case report. ( 25367099 )
2014
41
Syndrome in question. Costello syndrome. ( 25387514 )
2014
42
Growth hormone replacement therapy in Costello syndrome. ( 25459872 )
2014
43
Anesthetic management of Costello syndrome: a case report. ( 24902452 )
2014
44
Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome. ( 24637993 )
2014
45
Early Postnatal Diagnosis of Costello Syndrome. ( 25062109 )
2014
46
Antioxidant effects of potassium ascorbate with ribose in costello syndrome. ( 23393369 )
2013
47
Orthopedic manifestations and implications for individuals with Costello syndrome. ( 23813656 )
2013
48
'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome. ( 23106483 )
2013
49
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome. ( 24224811 )
2013
50
Keratoconus in Costello syndrome. ( 23494969 )
2013

Variations for Costello Syndrome

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

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 HRAS p.Gly12Val VAR_006836 rs104894230
2 HRAS p.Gly12Ser VAR_006837 rs104894229
3 HRAS p.Gly12Ala VAR_026106 rs104894230
4 HRAS p.Gly13Cys VAR_026107 rs104894228
5 HRAS p.Gly13Asp VAR_026108 rs104894226
6 HRAS p.Gly12Cys VAR_045975 rs104894229
7 HRAS p.Gly12Glu VAR_045976
8 HRAS p.Gln22Lys VAR_045977 rs121917757
9 HRAS p.Thr58Ile VAR_045978 rs121917758
10 HRAS p.Glu63Lys VAR_045980 rs121917756
11 HRAS p.Lys117Arg VAR_045981 rs104894227
12 HRAS p.Ala146Thr VAR_045982 rs104894231
13 HRAS p.Ala146Val VAR_045983 rs121917759
14 HRAS p.Gly12Asp VAR_068816 rs104894230

ClinVar genetic disease variations for Costello Syndrome:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
2 HRAS NM_005343.3(HRAS): c.350A> G (p.Lys117Arg) single nucleotide variant Pathogenic rs104894227 GRCh38 Chromosome 11, 533553: 533553
3 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
4 HRAS NM_005343.3(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
5 HRAS NM_005343.3(HRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs104894226 GRCh37 Chromosome 11, 534285: 534285
6 HRAS NM_005343.3(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
7 HRAS NM_005343.3(HRAS): c.436G> A (p.Ala146Thr) single nucleotide variant Pathogenic/Likely pathogenic rs104894231 GRCh37 Chromosome 11, 533467: 533467
8 HRAS NM_005343.3(HRAS): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs121917756 GRCh37 Chromosome 11, 533869: 533869
9 HRAS NM_005343.3(HRAS): c.64C> A (p.Gln22Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121917757 GRCh37 Chromosome 11, 534259: 534259
10 HRAS NM_176795.4(HRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs121917758 GRCh37 Chromosome 11, 533883: 533883
11 HRAS NM_005343.3(HRAS): c.437C> T (p.Ala146Val) single nucleotide variant Pathogenic/Likely pathogenic rs121917759 GRCh37 Chromosome 11, 533466: 533466
12 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
13 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
14 HRAS NM_005343.3(HRAS): c.110_111+1dupAGG duplication Pathogenic rs398122808 GRCh37 Chromosome 11, 534211: 534213
15 HRAS NM_005343.3(HRAS): c.108_110dupAGA (p.Glu37_Asp38insGlu) duplication Pathogenic rs398122809 GRCh37 Chromosome 11, 534213: 534215
16 HRAS NM_005343.3(HRAS): c.175G> A (p.Ala59Thr) single nucleotide variant Likely pathogenic rs727503093 GRCh37 Chromosome 11, 533881: 533881
17 HRAS NM_005343.3(HRAS): c.187_207dup21 (p.Asp69_Gln70insGluTyrSerAlaMetArgAsp) duplication Pathogenic rs587777239 GRCh38 Chromosome 11, 533849: 533869
18 HRAS NM_005343.3(HRAS): c.175_176delGCinsCT (p.Ala59Leu) indel Likely pathogenic rs727504747 GRCh38 Chromosome 11, 533880: 533881
19 HRAS NM_005343.3(HRAS): c.35_36delGCinsAA (p.Gly12Glu) indel Pathogenic/Likely pathogenic rs727503094 GRCh37 Chromosome 11, 534287: 534288

Copy number variations for Costello Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 48338 11 1 2800000 Genomic rearrangemen t HRAS Costello syndrome

Expression for Costello Syndrome

Search GEO for disease gene expression data for Costello Syndrome.

Pathways for Costello Syndrome

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

(show top 50) (show all 169)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
2
Show member pathways
13.51 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
3
Show member pathways
13.49 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
4
Show member pathways
13.4 ELN HRAS KRAS MAP2K1 MAP2K2 SOS1
5
Show member pathways
13.37 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
6
Show member pathways
13.3 HRAS KRAS MAP2K1 MAP2K2 SOS1
7
Show member pathways
13.26 HRAS KRAS MAP2K1 MAP2K2 SOS1
8
Show member pathways
13.19 HRAS KRAS MAP2K1 MAP2K2 SOS1
9
Show member pathways
13.11 ELN HRAS KRAS MAP2K1 MAP2K2 SOS1
10
Show member pathways
13.07 HRAS KRAS MAP2K1 MAP2K2 SOS1
11
Show member pathways
13.04 HRAS KRAS MAP2K1 MAP2K2 SOS1
12
Show member pathways
13.03 HRAS KRAS MAP2K1 MAP2K2 SOS1
13
Show member pathways
13.03 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
14
Show member pathways
12.96 HRAS KRAS MAP2K1 MAP2K2 SOS1
15
Show member pathways
12.96 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
16
Show member pathways
12.94 HRAS KRAS MAP2K1 MAP2K2 SOS1
17
Show member pathways
12.94 HRAS KRAS MAP2K1 MAP2K2 SOS1
18
Show member pathways
12.94 HRAS KRAS MAP2K1 MAP2K2 SOS1
19
Show member pathways
12.91 HRAS KRAS MAP2K1 MAP2K2
20
Show member pathways
12.91 HRAS KRAS MAP2K1 MAP2K2 SOS1
21
Show member pathways
12.9 HRAS KRAS MAP2K1 MAP2K2
22
Show member pathways
12.89 HRAS KRAS MAP2K1 SOS1
23
Show member pathways
12.88 HRAS KRAS MAP2K1 MAP2K2
24
Show member pathways
12.87 HRAS KRAS MAP2K1 SOS1
25
Show member pathways
12.86 HRAS KRAS MAP2K1 MAP2K2 SOS1
26
Show member pathways
12.85 HRAS KRAS PTPN11 SOS1
27
Show member pathways
12.85 HRAS KRAS MAP2K1 MAP2K2 SOS1
28
Show member pathways
12.84 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
29
Show member pathways
12.83 HRAS KRAS MAP2K1 MAP2K2
30
Show member pathways
12.83 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
31
Show member pathways
12.82 HRAS KRAS MAP2K1 MAP2K2
32 12.78 HRAS KRAS MAP2K1 MAP2K2 SOS1
33
Show member pathways
12.78 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
34 12.75 HRAS KRAS MAP2K1 MAP2K2 SOS1
35
Show member pathways
12.74 HRAS KRAS PTPN11 SOS1
36
Show member pathways
12.74 HRAS KRAS MAP2K1 MAP2K2 SOS1
37 12.7 HRAS KRAS MAP2K1 MAP2K2 SOS1
38
Show member pathways
12.69 KRAS MAP2K1 MAP2K2 SOS1
39
Show member pathways
12.69 HRAS KRAS MAP2K1 MAP2K2
40
Show member pathways
12.66 HRAS MAP2K1 MAP2K2 SOS1
41
Show member pathways
12.66 HRAS MAP2K1 MAP2K2 SOS1
42 12.66 HRAS KRAS MAP2K1 MAP2K2 SOS1
43
Show member pathways
12.64 HRAS MAP2K1 MAP2K2 SOS1
44
Show member pathways
12.64 HRAS MAP2K1 MAP2K2 PTPN11 SOS1
45
Show member pathways
12.64 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
46
Show member pathways
12.63 HRAS KRAS PTPN11 SOS1
47
Show member pathways
12.62 HRAS KRAS PTPN11 SOS1
48
Show member pathways
12.62 HRAS KRAS MAP2K1 MAP2K2 SOS1
49
Show member pathways
12.6 HRAS MAP2K1 MAP2K2 PTPN11 SOS1
50 12.59 HRAS KRAS MAP2K1 MAP2K2 SOS1

GO Terms for Costello Syndrome

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.8 HRAS KRAS SOS1
2 Fc-epsilon receptor signaling pathway GO:0038095 9.77 HRAS KRAS SOS1
3 negative regulation of gene expression GO:0010629 9.76 HRAS MAP2K1 MAP2K2
4 activation of MAPK activity GO:0000187 9.73 MAP2K1 MAP2K2 PTPN11
5 leukocyte migration GO:0050900 9.71 HRAS KRAS PTPN11 SOS1
6 Ras protein signal transduction GO:0007265 9.63 HRAS KRAS SOS1
7 positive regulation of protein serine/threonine kinase activity GO:0071902 9.62 MAP2K1 MAP2K2
8 respiratory gaseous exchange GO:0007585 9.62 CHST11 ELN
9 axon guidance GO:0007411 9.62 HRAS KRAS PTPN11 SOS1
10 homeostasis of number of cells within a tissue GO:0048873 9.61 KRAS PTPN11
11 ERK1 and ERK2 cascade GO:0070371 9.61 MAP2K1 MAP2K2
12 cellular senescence GO:0090398 9.59 HRAS MAP2K1
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.58 HRAS KRAS
14 neurotrophin TRK receptor signaling pathway GO:0048011 9.57 PTPN11 SOS1
15 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.56 HRAS MAP2K1 MAP2K2 PTPN11
16 response to isolation stress GO:0035900 9.55 HRAS KRAS
17 regulation of stress-activated MAPK cascade GO:0032872 9.54 MAP2K1 MAP2K2
18 Bergmann glial cell differentiation GO:0060020 9.52 MAP2K1 PTPN11
19 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.51 MAP2K1 MAP2K2
20 regulation of early endosome to late endosome transport GO:2000641 9.49 MAP2K1 MAP2K2
21 proteolysis in other organism GO:0035897 9.48 MAP2K1 MAP2K2
22 regulation of Golgi inheritance GO:0090170 9.43 MAP2K1 MAP2K2
23 cerebellar cortex formation GO:0021697 9.37 MAP2K1 PTPN11
24 MAPK cascade GO:0000165 9.35 HRAS KRAS MAP2K1 MAP2K2 SOS1
25 ERBB2 signaling pathway GO:0038128 9.33 HRAS KRAS SOS1
26 epidermal growth factor receptor signaling pathway GO:0007173 8.92 HRAS KRAS PTPN11 SOS1

Molecular functions related to Costello Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein serine/threonine/tyrosine kinase activity GO:0004712 9.26 MAP2K1 MAP2K2
2 protein serine/threonine kinase activator activity GO:0043539 9.16 MAP2K1 MAP2K2
3 MAP kinase kinase activity GO:0004708 8.96 MAP2K1 MAP2K2
4 nucleotide binding GO:0000166 8.92 HRAS KRAS MAP2K1 MAP2K2

Sources for Costello Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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