ECCL
MCID: ENC010
MIFTS: 46

Encephalocraniocutaneous Lipomatosis (ECCL)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 57 20 43 58 72 29 6
Eccl 57 20 43 72
Haberland Syndrome 20 43 58
Fishman Syndrome 20 43
Encephalocraniocutaneous Lipomatosis, Somatic Mosaic 57
Lipomatosis, Encephalocraniocutaneous 39

Characteristics:

Orphanet epidemiological data:

58
encephalocraniocutaneous lipomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
somatic mosaicism


HPO:

31
encephalocraniocutaneous lipomatosis:
Inheritance somatic mosaicism sporadic


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

MedlinePlus Genetics : 43 Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.A hallmark feature of ECCL is a noncancerous tumor under the scalp covered by a smooth, hairless patch of skin. This type of tumor, called a nevus psiloliparus, is made up of fatty tissue. Some people with ECCL also have noncancerous tumors under the skin elsewhere on the head or face. Many have small flaps of skin called skin tags on the eyelids and around the eyes. Hair loss (alopecia), thin or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and changes in skin coloring (pigmentation) are also possible.The most common eye abnormality in ECCL is a noncancerous growth called a choristoma. These growths can be present in one or both eyes and may affect vision.About two-thirds of people with ECCL have noncancerous fatty tumors inside the brain or around the spinal cord. These tumors are called intracranial lipomas and intraspinal lipomas, respectively. Affected individuals also have an increased risk of developing a type of brain cancer called a glioma. The brain and spinal cord abnormalities associated with ECCL can cause seizures, abnormal tensing of the muscles, and intellectual disability ranging from mild to profound. However, about one-third of affected individuals have normal intelligence.Other kinds of growths may also occur in people with ECCL, including noncancerous jaw tumors.

MalaCards based summary : Encephalocraniocutaneous Lipomatosis, also known as eccl, is related to lipomatosis and oculoectodermal syndrome. An important gene associated with Encephalocraniocutaneous Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Apoptosis Pathway and Development FGFR signaling pathway. Affiliated tissues include skin, brain and spinal cord, and related phenotypes are intellectual disability and global developmental delay

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2396 Definition A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.

OMIM® : 57 Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007). The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, nonscarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016). (613001) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Encephalocraniocutaneous lipomatosis: A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present.

Wikipedia : 73 Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes,... more...

Related Diseases for Encephalocraniocutaneous Lipomatosis

Diseases related to Encephalocraniocutaneous Lipomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 30.8 KRAS HMGA2 FGFR1
2 oculoectodermal syndrome 30.2 KRAS FGFR1
3 pilocytic astrocytoma 29.9 KRAS FGFR1
4 schimmelpenning-feuerstein-mims syndrome 29.6 KRAS FGFR1
5 rasopathy 29.4 KRAS FGFR1
6 alopecia 10.7
7 lipomatosis, multiple 10.6
8 pleomorphic lipoma 10.6
9 proteus syndrome 10.5
10 oculocerebrocutaneous syndrome 10.4
11 coloboma of macula 10.4
12 glioma susceptibility 1 10.4
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
14 malignant astrocytoma 10.4
15 hydrocephalus 10.3
16 spasticity 10.3
17 arachnoid cysts, intracranial 10.2
18 focal dermal hypoplasia 10.2
19 neurofibromatosis 10.2
20 aniridia 1 10.2
21 aplasia cutis congenita, nonsyndromic 10.2
22 coarctation of aorta 10.2
23 neurofibromatosis, type i 10.2
24 melanosis, neurocutaneous 10.2
25 porencephaly 10.2
26 low grade glioma 10.2
27 microphthalmia 10.2
28 exostosis 10.2
29 mesenchymal cell neoplasm 10.2
30 skin tag 10.2
31 coloboma of iris 10.2
32 intracranial cysts 10.2
33 low-grade astrocytoma 10.2
34 ectopia pupillae 10.0
35 noonan syndrome 1 10.0
36 hemifacial microsomia 10.0
37 neural tube defects 10.0
38 costello syndrome 10.0
39 hydrocephalus, congenital, 1 10.0
40 alopecia, congenital 10.0
41 corpus callosum, partial agenesis of, x-linked 10.0
42 fryns microphthalmia syndrome 10.0
43 meningioma, familial 10.0
44 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.0
45 alacrima, achalasia, and mental retardation syndrome 10.0
46 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
47 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
48 west syndrome 10.0
49 lissencephaly 10.0
50 scoliosis 10.0

Graphical network of the top 20 diseases related to Encephalocraniocutaneous Lipomatosis:



Diseases related to Encephalocraniocutaneous Lipomatosis

Symptoms & Phenotypes for Encephalocraniocutaneous Lipomatosis

Human phenotypes related to Encephalocraniocutaneous Lipomatosis:

58 31 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
4 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
5 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
6 multiple lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001012
7 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
8 xanthomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000991
9 seizure 31 hallmark (90%) HP:0001250
10 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
11 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
12 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
13 dysphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002357
14 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
15 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
16 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
17 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
18 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
19 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
20 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
21 nevus flammeus 58 31 frequent (33%) Frequent (79-30%) HP:0001052
22 absent septum pellucidum 58 31 frequent (33%) Frequent (79-30%) HP:0001331
23 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
24 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
25 visceral angiomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0100761
26 bone cyst 58 31 frequent (33%) Frequent (79-30%) HP:0012062
27 osteolysis 58 31 frequent (33%) Frequent (79-30%) HP:0002797
28 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
29 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
30 tricuspid valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001704
31 echolalia 58 31 frequent (33%) Frequent (79-30%) HP:0010529
32 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
33 neoplasm of the skeletal system 58 31 frequent (33%) Frequent (79-30%) HP:0010622
34 subcortical cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012157
35 abnormal nasolacrimal system morphology 31 frequent (33%) HP:0000614
36 abnormal eyelash morphology 31 frequent (33%) HP:0000499
37 tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002445
38 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
39 dysostosis multiplex 58 31 occasional (7.5%) Occasional (29-5%) HP:0000943
40 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
41 interrupted aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011611
42 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
43 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
44 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
45 abnormal cartilage morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002763
46 osteochondrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0040188
47 paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003470
48 seizures 58 Very frequent (99-80%)
49 neurological speech impairment 58 Frequent (79-30%)
50 hydrocephalus 31 HP:0000238

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hydrocephalus
dandy-walker malformation
cerebellar hypoplasia
psychomotor retardation
arachnoid cyst
more
Skin Nails Hair Hair:
alopecia
irregular eyebrows

Genitourinary Kidneys:
hydronephrosis
pelvic kidney

Skin Nails Hair Skin:
linear hyperpigmentation
focal scalp defects with alopecia
focal skin hypoplasia in face
small nodular skin-tags
subcutaneous lipomatous tissue

Head And Neck Ears:
ear abnormalities

Skeletal Spine:
spinal lipoma

Muscle Soft Tissue:
subcutaneous lipomatous tissue

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
microphthalmia
sclerocornea
eyelid coloboma
iris hypoplasia
anterior chamber anomalies
more
Cardiovascular Heart:
subvalvular aortic stenosis
atrial septal defect (asd)
ventricular septal defect (vsd)
coarctation
hypoplasia thoracic aorta
more
Cardiovascular Vascular:
peripheral pulmonary stenosis
abnormal cerebral vessels
meningeal angiomatosis

Skeletal Skull:
turricephalic skull

Skeletal Limbs:
leg asymmetry
skeletal cysts

Neoplasia:
low-grade glioma (in some patients)
pilocytic astrocytoma (in some patients)

Clinical features from OMIM®:

613001 (Updated 05-Apr-2021)

Drugs & Therapeutics for Encephalocraniocutaneous Lipomatosis

Search Clinical Trials , NIH Clinical Center for Encephalocraniocutaneous Lipomatosis

Genetic Tests for Encephalocraniocutaneous Lipomatosis

Genetic tests related to Encephalocraniocutaneous Lipomatosis:

# Genetic test Affiliating Genes
1 Encephalocraniocutaneous Lipomatosis 29 FGFR1

Anatomical Context for Encephalocraniocutaneous Lipomatosis

MalaCards organs/tissues related to Encephalocraniocutaneous Lipomatosis:

40
Skin, Brain, Spinal Cord, Eye, Kidney, Bone, Amygdala

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 167)
# Title Authors PMID Year
1
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. 6 61 57
26942290 2016
2
Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. 6 57 61
25705862 2015
3
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). 61 57 6
23819449 2013
4
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. 61 6 57
10766980 2000
5
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. 57 61
21626669 2011
6
Encephalocraniocutaneous lipomatosis. 57 61
19574261 2009
7
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). 57 61
19215040 2009
8
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. 57 61
17963257 2007
9
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? 57 61
18000896 2007
10
Brain anomalies in encephalocraniocutaneous lipomatosis. 57 61
18000987 2007
11
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. 61 57
9009364 1996
12
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. 61 57
8313622 1993
13
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. 61 57
8266992 1993
14
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. 57 61
1621755 1992
15
Encephalocraniocutaneous lipomatosis. 61 57
3611632 1987
16
Encephalocraniocutaneous lipomatosis and Proteus syndrome. 61 57
3777031 1986
17
Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. 61 57
4902772 1970
18
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. 57
15593017 2005
19
Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome? 57
8588580 1995
20
Intelligent Multisensor Cooperative Localization Under Cooperative Redundancy Validation. 61
30872248 2021
21
Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature. 61
33649896 2021
22
Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity? 61
33631921 2021
23
Case Report: A Case of Glioblastoma in a Patient With Haberland Syndrome. 61
33763397 2021
24
Introduction to phacomatoses (neurocutaneous disorders) in childhood. 61
32940773 2020
25
RASopathies. 61
32972603 2020
26
Nevus psiloliparus: Newly described histopathological features from transverse sections. 61
32034785 2020
27
Encephalocraniocutaneous lipomatosis: A rare congenital neurocutaneous syndrome. 61
32215156 2020
28
Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born. 61
30428736 2020
29
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation. 61
31633190 2020
30
Fibrous Meningioma in a Patient with Encephalocraniocutaneous Lipomatosis: A Rare Case with Unique Features. 61
32884367 2020
31
Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis. 61
31649234 2019
32
Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. 61
31173478 2019
33
Anaesthetic management of a case of Haberland's syndrome (encephalocraniocutaneous lipomatosis). 61
31391623 2019
34
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. 61
30891959 2019
35
18F-Fludeoxyglucose Positron-emission Tomography/Computed Tomography in Encephalocraniocutaneous Lipomatosis/Haberland Syndrome. 61
31040533 2019
36
Eye and appearance characteristics of encephalocraniocutaneous lipomatosis. 61
30250235 2019
37
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. 61
30289595 2018
38
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. 61
30143858 2018
39
Encephalocraniocutaneous Lipomatosis. 61
29683947 2018
40
Frequency of Acute Kidney Injury in tetanus patients of Paedriatic Intensive Care Unit: A Public Hospital Experience. 61
29805409 2018
41
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. 61
29192135 2017
42
Encephalocraniocutaneous lipomatosis: A case report with review of literature. 61
28707961 2017
43
Type 2 Diabetes Mellitus and Impaired Renal Function Are Associated With Brain Alterations and Poststroke Cognitive Decline. 61
28801477 2017
44
Effect of methanol in controlling defunctionalization of the propyl side chain of phenolics from catalytic upstream biorefining. 61
28660970 2017
45
Encephalocraniocutaneous lipomatosis with Wilms' tumor. 61
28612492 2017
46
Role of pRIFLE Criteria in Early Diagnosis of Severity Staging of Neonatal AKI and its Impact on Management. 61
28588162 2017
47
Lipomatosis encefalocraneocutánea: reporte de caso. 61
29414957 2017
48
Partial Encephalocraniocutaneous Lipomatosis Syndrome. 61
28553398 2017
49
Glomerular and Tubular Renal Function after Repeated Once-Daily Tobramycin Courses in Cystic Fibrosis Patients. 61
28133546 2017
50
Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. 61
28164079 2016

Variations for Encephalocraniocutaneous Lipomatosis

ClinVar genetic disease variations for Encephalocraniocutaneous Lipomatosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023110.3(FGFR1):c.1671del (p.Leu557fs) Deletion Pathogenic 931981 GRCh37: 8:38273571-38273571
GRCh38: 8:38416053-38416053
2 FGFR1 NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) SNV Pathogenic/Likely pathogenic 224896 rs779707422 GRCh37: 8:38274849-38274849
GRCh38: 8:38417331-38417331
3 FGFR1 NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) SNV Pathogenic/Likely pathogenic 224897 rs869320694 GRCh37: 8:38272308-38272308
GRCh38: 8:38414790-38414790
4 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
5 FGFR1 NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) SNV Uncertain significance 811993 rs768223019 GRCh37: 8:38273548-38273548
GRCh38: 8:38416030-38416030
6 FGFR1 NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) SNV Uncertain significance 1030825 GRCh37: 8:38287392-38287392
GRCh38: 8:38429874-38429874
7 FGFR1 NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain significance 16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
8 FGFR1 NM_023110.3(FGFR1):c.937-14G>A SNV Uncertain significance 931498 GRCh37: 8:38279473-38279473
GRCh38: 8:38421955-38421955
9 FGFR1 NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) SNV Uncertain significance 931702 GRCh37: 8:38275834-38275834
GRCh38: 8:38418316-38418316
10 FGFR1 NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) SNV Uncertain significance 689761 rs1260404537 GRCh37: 8:38287269-38287269
GRCh38: 8:38429751-38429751

UniProtKB/Swiss-Prot genetic disease variations for Encephalocraniocutaneous Lipomatosis:

72
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn546Lys VAR_075853 rs779707422
2 FGFR1 p.Lys656Glu VAR_075855 rs869320694

Expression for Encephalocraniocutaneous Lipomatosis

Search GEO for disease gene expression data for Encephalocraniocutaneous Lipomatosis.

Pathways for Encephalocraniocutaneous Lipomatosis

Pathways related to Encephalocraniocutaneous Lipomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 KRAS FGFR1
2
Show member pathways
11.84 KRAS FGFR1
3 11.77 KRAS FGFR1
4
Show member pathways
11.69 KRAS FGFR1
5
Show member pathways
11.57 KRAS FGFR1
6 11.48 KRAS FGFR1
7
Show member pathways
11.21 KRAS FGFR1
8
Show member pathways
11.07 KRAS FGFR1
9 10.8 KRAS FGFR1
10 10.26 KRAS FGFR1

GO Terms for Encephalocraniocutaneous Lipomatosis

Biological processes related to Encephalocraniocutaneous Lipomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.26 KRAS FGFR1
2 positive regulation of MAP kinase activity GO:0043406 9.16 KRAS FGFR1
3 epithelial to mesenchymal transition GO:0001837 8.96 HMGA2 FGFR1
4 positive regulation of cellular senescence GO:2000774 8.62 KRAS HMGA2

Sources for Encephalocraniocutaneous Lipomatosis

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
37 LifeMap
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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