ECCL
MCID: ENC010
MIFTS: 50

Encephalocraniocutaneous Lipomatosis (ECCL)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 57 24 19 42 58 73 28 5 75
Haberland Syndrome 24 19 42 58
Eccl 57 19 42 73
Fishman Syndrome 24 19 42
Encephalocraniocutaneous Lipomatosis, Somatic Mosaic 57
Lipomatosis, Encephalocraniocutaneous 38

Characteristics:


Inheritance:

Somatic mosaicism 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

MedlinePlus Genetics: 42 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 haberland syndrome, 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 Breast cancer pathway and NF-kappaB Pathway. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are intellectual disability and seizure

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 08-Dec-2022)

GARD: 19 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.

Orphanet: 58 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.

UniProtKB/Swiss-Prot: 73 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: 75 Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes,... more...

GeneReviews: NBK576966

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 112)
# Related Disease Score Top Affiliating Genes
1 lipomatosis 30.8 KRAS HMGA2 FGFR1
2 oculoectodermal syndrome 30.3 KRAS FGFR1
3 schimmelpenning-feuerstein-mims syndrome 30.2 KRAS FGFR1
4 pilocytic astrocytoma 30.0 KRAS FGFR1
5 rasopathy 29.5 KRAS FGFR1
6 rhabdomyosarcoma 29.1 KRAS HMGA2 FGFR1
7 lipomatosis, multiple 10.8
8 alopecia 10.7
9 proteus syndrome 10.5
10 oculocerebrocutaneous syndrome 10.5
11 arachnoid cysts, intracranial 10.4
12 skin tag 10.4
13 coloboma of macula 10.4
14 glioma susceptibility 1 10.4
15 hydrocephalus, congenital, 1 10.4
16 brain cancer 10.4
17 hydrocephalus 10.3
18 spasticity 10.3
19 coarctation of aorta 10.3
20 neurofibromatosis, type i 10.3
21 focal dermal hypoplasia 10.3
22 neurofibromatosis 10.3
23 coloboma of iris 10.3
24 coloboma of eyelid 10.3
25 aniridia 1 10.2
26 wilms tumor 1 10.2
27 melanosis, neurocutaneous 10.2
28 neurofibromatosis-noonan syndrome 10.2
29 wilms tumor 5 10.2
30 lissencephaly 10.2
31 porencephaly 10.2
32 low grade glioma 10.2
33 microphthalmia 10.2
34 tethered spinal cord syndrome 10.2
35 exostosis 10.2
36 mesenchymal cell neoplasm 10.2
37 aplasia cutis congenita 10.2
38 cerebral atrophy 10.2
39 low-grade astrocytoma 10.2
40 coloboma, ocular, autosomal dominant 10.0
41 ectopia pupillae 10.0
42 noonan syndrome 1 10.0
43 craniofacial microsomia 10.0
44 optic nerve hypoplasia, bilateral 10.0
45 neural tube defects 10.0
46 strabismus 10.0
47 sturge-weber syndrome 10.0
48 corpus callosum, agenesis of 10.0
49 costello syndrome 10.0
50 multiple pterygium syndrome, escobar variant 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 30 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001250
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 retinopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000488
5 alopecia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001596
6 lipodystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009125
7 multiple lipomas 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001012
8 subcutaneous nodule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001482
9 xanthomatosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000991
10 macrocephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000256
11 spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001257
12 agenesis of corpus callosum 58 30 Frequent (33%) Frequent (79-30%)
HP:0001274
13 cerebral calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002514
14 craniofacial hyperostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004493
15 corneal opacity 58 30 Frequent (33%) Frequent (79-30%)
HP:0007957
16 abnormal eyelash morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000499
17 muscle stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003552
18 iris coloboma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000612
19 ventriculomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002119
20 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
21 nevus flammeus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001052
22 absent septum pellucidum 58 30 Frequent (33%) Frequent (79-30%)
HP:0001331
23 capillary hemangioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0005306
24 pulmonary arterial hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0002092
25 visceral angiomatosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100761
26 bone cyst 58 30 Frequent (33%) Frequent (79-30%)
HP:0012062
27 osteolysis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002797
28 rigidity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002063
29 aphasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002381
30 tricuspid valve prolapse 58 30 Frequent (33%) Frequent (79-30%)
HP:0001704
31 echolalia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010529
32 mutism 58 30 Frequent (33%) Frequent (79-30%)
HP:0002300
33 neoplasm of the skeletal system 58 30 Frequent (33%) Frequent (79-30%)
HP:0010622
34 abnormal nasolacrimal system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000614
35 subcortical cerebral atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0012157
36 tetraplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002445
37 skeletal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002652
38 dysostosis multiplex 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000943
39 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001680
40 interrupted aortic arch 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011611
41 aortic valve stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001650
42 hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001269
43 hemiplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002301
44 abnormal cartilage morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002763
45 osteochondrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040188
46 paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003470
47 neurological speech impairment 58 Frequent (79-30%)
48 dysphasia 58 Frequent (79-30%)
49 hydrocephalus 30 HP:0000238
50 behavioral abnormality 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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
eyelid coloboma
sclerocornea
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 08-Dec-2022)

MGI Mouse Phenotypes related to Encephalocraniocutaneous Lipomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.5 FGFR1 HMGA2 KRAS
2 limbs/digits/tail MP:0005371 9.43 FGFR1 HMGA2 KRAS
3 hearing/vestibular/ear MP:0005377 9.33 FGFR1 HMGA2 KRAS
4 digestive/alimentary MP:0005381 9.13 FGFR1 HMGA2 KRAS
5 craniofacial MP:0005382 8.8 FGFR1 HMGA2 KRAS

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 28 FGFR1

Anatomical Context for Encephalocraniocutaneous Lipomatosis

Organs/tissues related to Encephalocraniocutaneous Lipomatosis:

MalaCards : Skin, Spinal Cord, Brain, Eye, Bone, Amygdala, Kidney

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 195)
# Title Authors PMID Year
1
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. 62 24 57 5
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. 62 57 5
25705862 2015
3
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). 62 57 5
23819449 2013
4
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. 62 57 5
10766980 2000
5
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. 62 24 5
30891959 2019
6
Encephalocraniocutaneous lipomatosis. 62 24 57
19574261 2009
7
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. 62 24 57
17963257 2007
8
Brain anomalies in encephalocraniocutaneous lipomatosis. 62 24 57
18000987 2007
9
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? 62 24 57
18000896 2007
10
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. 62 57
21626669 2011
11
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). 62 57
19215040 2009
12
Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases. 62 57
9009364 1996
13
Cranial hemihypertrophy with ipsilateral naevoid streaks, intellectual handicap and epilepsy: a report of two cases. 62 57
8313622 1993
14
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism. 62 57
8266992 1993
15
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. 62 57
1621755 1992
16
Encephalocraniocutaneous lipomatosis. 62 57
3611632 1987
17
Encephalocraniocutaneous lipomatosis and Proteus syndrome. 62 57
3777031 1986
18
Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. 62 57
4902772 1970
19
Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation. 62 24
31633190 2020
20
Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis. 62 24
31649234 2019
21
Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. 62 24
31173478 2019
22
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. 62 24
30289595 2018
23
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. 62 24
30143858 2018
24
Encephalocraniocutaneous Lipomatosis. 62 24
29683947 2018
25
Encephalocraniocutaneous lipomatosis with Wilms' tumor. 62 24
28612492 2017
26
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. 62 24
26970110 2016
27
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. 62 24
23620525 2014
28
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. 62 24
20881536 2010
29
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? 62 24
16523517 2006
30
Mandibular osteoma in the encephalocraniocutaneous lipomatosis. 62 24
15975807 2005
31
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. 57
15593017 2005
32
Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. 62 24
12140461 2002
33
Hemifacial hyperplasia with meningeal involvement: a variant of proteus syndrome? 57
8588580 1995
34
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants. 24
34056834 2021
35
A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus. 24
30443000 2019
36
An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. 24
30580480 2018
37
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw. 24
30385747 2018
38
FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas. 24
29728520 2018
39
Biochemical and Structural Analysis of Common Cancer-Associated KRAS Mutations. 24
26037647 2015
40
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 24
25808193 2015
41
Schimmelpenning syndrome: a case report and literature review. 24
23597534 2014
42
Genomic aberrations in the FGFR pathway: opportunities for targeted therapies in solid tumors. 24
24265351 2014
43
Naevus sebaceus: a mosaic RASopathy. 24
24341474 2014
44
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. 24
23817572 2013
45
Mosaic RASopathies. 24
23255105 2013
46
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 24
22683711 2012
47
Clinical relevance of KRAS in human cancers. 24
20617134 2010
48
A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL. 62
35668302 2022
49
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. 62
35445792 2022
50
Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies. 62
35409398 2022

Variations for Encephalocraniocutaneous Lipomatosis

ClinVar genetic disease variations for Encephalocraniocutaneous Lipomatosis:

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR1 NM_023110.3(FGFR1):c.1671del (p.Leu557fs) DEL Pathogenic
931981 rs1816433701 GRCh37: 8:38273571-38273571
GRCh38: 8:38416053-38416053
2 FGFR1 NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) SNV Pathogenic
224896 rs779707422 GRCh37: 8:38274849-38274849
GRCh38: 8:38417331-38417331
3 KRAS NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) SNV Pathogenic
375965 rs770248150 GRCh37: 12:25378647-25378647
GRCh38: 12:25225713-25225713
4 FGFR1 NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) SNV Pathogenic/Likely Pathogenic
224897 rs869320694 GRCh37: 8:38272308-38272308
GRCh38: 8:38414790-38414790
5 FGFR1 NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely Pathogenic
16299 rs121909641 GRCh37: 8:38277238-38277238
GRCh38: 8:38419720-38419720
6 FGFR1 NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) SNV Uncertain Significance
16289 rs121909633 GRCh37: 8:38282064-38282064
GRCh38: 8:38424546-38424546
7 FGFR1 NM_023110.3(FGFR1):c.166C>T (p.Arg56Trp) SNV Uncertain Significance
1030825 rs1034848904 GRCh37: 8:38287392-38287392
GRCh38: 8:38429874-38429874
8 FGFR1 NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) SNV Uncertain Significance
689761 rs1260404537 GRCh37: 8:38287269-38287269
GRCh38: 8:38429751-38429751
9 FGFR1 NM_023110.3(FGFR1):c.937-14G>A SNV Uncertain Significance
931498 rs779223305 GRCh37: 8:38279473-38279473
GRCh38: 8:38421955-38421955
10 FGFR1 NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) SNV Uncertain Significance
931702 rs749903780 GRCh37: 8:38275834-38275834
GRCh38: 8:38418316-38418316
11 FGFR1 NM_023110.3(FGFR1):c.1694C>T (p.Ser565Phe) SNV Uncertain Significance
811993 rs768223019 GRCh37: 8:38273548-38273548
GRCh38: 8:38416030-38416030
12 KRAS NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) SNV Not Provided
12580 rs112445441 GRCh37: 12:25398281-25398281
GRCh38: 12:25245347-25245347
13 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Not Provided
12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
14 KRAS NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) SNV Not Provided
197243 rs121913527 GRCh37: 12:25378562-25378562
GRCh38: 12:25225628-25225628
15 KRAS NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) SNV Not Provided
217822 rs121913538 GRCh37: 12:25398262-25398262
GRCh38: 12:25245328-25245328
16 KRAS NM_004985.5(KRAS):c.437C>T (p.Ala146Val) SNV Not Provided
375962 rs1057519725 GRCh37: 12:25378561-25378561
GRCh38: 12:25225627-25225627

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

73
# 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:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12 KRAS FGFR1
2
Show member pathways
11.97 KRAS FGFR1
3
Show member pathways
11.95 KRAS FGFR1
4 11.94 KRAS FGFR1
5
Show member pathways
11.8 KRAS FGFR1
6 11.77 KRAS FGFR1
7
Show member pathways
11.76 KRAS FGFR1
8
Show member pathways
11.73 KRAS FGFR1
9
Show member pathways
11.68 KRAS FGFR1
10 11.64 KRAS FGFR1
11 11.6 HMGA2 FGFR1
12 11.55 KRAS FGFR1
13
Show member pathways
11.42 KRAS FGFR1
14
Show member pathways
11.34 KRAS FGFR1
15 11.27 KRAS FGFR1
16
Show member pathways
11.21 KRAS FGFR1
17
Show member pathways
11.05 KRAS FGFR1
18 10.82 KRAS FGFR1
19 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 9.46 KRAS FGFR1
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.13 KRAS HMGA2
3 epithelial to mesenchymal transition GO:0001837 8.92 HMGA2 FGFR1

Sources for Encephalocraniocutaneous Lipomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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