ECCL
MCID: ENC010
MIFTS: 47

Encephalocraniocutaneous Lipomatosis (ECCL)

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

Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 58 54 26 60 76 30 6
Eccl 58 54 26 76
Haberland Syndrome 54 26 60
Fishman Syndrome 54 26
Lipomatosis, Encephalocraniocutaneous 41

Characteristics:

Orphanet epidemiological data:

60
encephalocraniocutaneous lipomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
somatic mosaicism


HPO:

33
encephalocraniocutaneous lipomatosis:
Inheritance somatic mosaicism sporadic


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

OMIM : 58 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, non-scarring 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)

MalaCards based summary : Encephalocraniocutaneous Lipomatosis, also known as eccl, is related to lipomatosis and papillorenal syndrome. An important gene associated with Encephalocraniocutaneous Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and MicroRNAs in cancer. Affiliated tissues include skin, eye and brain, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2396Disease definitionA 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 76 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 : 77 Encephalocraniocutaneous lipomatosis (ECCL), otherwise known as Haberland syndrome, is a rare condition... more...

Related Diseases for Encephalocraniocutaneous Lipomatosis

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:

60 33 (show top 50) (show all 84)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000488
5 subcutaneous nodule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001482
6 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
7 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
8 multiple lipomas 60 33 hallmark (90%) Very frequent (99-80%) HP:0001012
9 xanthomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000991
10 macrocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000256
11 agenesis of corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0001274
12 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
13 dysphasia 60 33 frequent (33%) Frequent (79-30%) HP:0002357
14 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
15 craniofacial hyperostosis 60 33 frequent (33%) Frequent (79-30%) HP:0004493
16 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
17 pulmonary arterial hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0002092
18 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
19 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
20 aphasia 60 33 frequent (33%) Frequent (79-30%) HP:0002381
21 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
22 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
23 visceral angiomatosis 60 33 frequent (33%) Frequent (79-30%) HP:0100761
24 nevus flammeus 60 33 frequent (33%) Frequent (79-30%) HP:0001052
25 osteolysis 60 33 frequent (33%) Frequent (79-30%) HP:0002797
26 absent septum pellucidum 60 33 frequent (33%) Frequent (79-30%) HP:0001331
27 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
28 bone cyst 60 33 frequent (33%) Frequent (79-30%) HP:0012062
29 tricuspid valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001704
30 echolalia 60 33 frequent (33%) Frequent (79-30%) HP:0010529
31 mutism 60 33 frequent (33%) Frequent (79-30%) HP:0002300
32 neoplasm of the skeletal system 60 33 frequent (33%) Frequent (79-30%) HP:0010622
33 subcortical cerebral atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012157
34 abnormal nasolacrimal system morphology 33 frequent (33%) HP:0000614
35 abnormal eyelash morphology 33 frequent (33%) HP:0000499
36 capillary hemangioma 33 frequent (33%) HP:0005306
37 tetraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002445
38 skeletal dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002652
39 dysostosis multiplex 60 33 occasional (7.5%) Occasional (29-5%) HP:0000943
40 coarctation of aorta 60 33 occasional (7.5%) Occasional (29-5%) HP:0001680
41 paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003470
42 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
43 interrupted aortic arch 60 33 occasional (7.5%) Occasional (29-5%) HP:0011611
44 aortic valve stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001650
45 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
46 abnormal cartilage morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0002763
47 osteochondrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0040188
48 hydrocephalus 33 HP:0000238
49 neurological speech impairment 60 Frequent (79-30%)
50 behavioral abnormality 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
dandy-walker malformation
cortical dysplasia
arachnoid cyst
more
Skin Nails Hair Hair:
alopecia
irregular eyebrows

Genitourinary Kidneys:
pelvic kidney
hydronephrosis

Cardiovascular Heart:
atrial septal defect (asd)
ventricular septal defect (vsd)
coarctation
hypoplasia thoracic aorta
bicommissural aortic valve
more
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
iris hypoplasia
anterior chamber anomalies
eyelid coloboma
more
Skin Nails Hair Skin:
linear hyperpigmentation
focal scalp defects with alopecia
focal skin hypoplasia in face
small nodular skin-tags
subcutaneous lipomatous tissue

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

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 30 FGFR1

Anatomical Context for Encephalocraniocutaneous Lipomatosis

MalaCards organs/tissues related to Encephalocraniocutaneous Lipomatosis:

42
Skin, Eye, Brain, Bone, Kidney, Spinal Cord, Lung

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 100)
# Title Authors Year
1
Eye and appearance characteristics of encephalocraniocutaneous lipomatosis. ( 30250235 )
2019
2
18F-Fludeoxyglucose Positron-emission Tomography/Computed Tomography in Encephalocraniocutaneous Lipomatosis/Haberland Syndrome. ( 31040533 )
2019
3
Encephalocraniocutaneous Lipomatosis. ( 29683947 )
2018
4
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. ( 30143858 )
2018
5
Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. ( 30289595 )
2018
6
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
7
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
8
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
9
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. ( 29192135 )
2017
10
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
11
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
12
Encephalocraniocutaneous Lipomatosis Without Ocular Malformations. ( 27131628 )
2016
13
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
14
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. ( 27579462 )
2016
15
Significant antitumor response of disseminated glioblastoma to bevacizumab resulting in long-term clinical remission in a patient with encephalocraniocutaneous lipomatosis: A case report. ( 27703677 )
2016
16
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis. ( 27882255 )
2016
17
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
2016
18
Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. ( 28164079 )
2016
19
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. ( 26231568 )
2016
20
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. ( 26942290 )
2016
21
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. ( 25705862 )
2015
22
Characteristic imaging findings in encephalocraniocutaneous lipomatosis. ( 25825465 )
2015
23
Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis. ( 26344330 )
2015
24
Encephalocraniocutaneous lipomatosis. ( 26564086 )
2015
25
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
26
Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome. ( 24070220 )
2014
27
Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. ( 23620525 )
2014
28
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. ( 23942743 )
2014
29
Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature. ( 23974968 )
2014
30
Encephalocraniocutaneous Lipomatosis: A Case With Long Term Follow-up. ( 24384349 )
2014
31
Encephalocraniocutaneous lipomatosis: a case report and review of the literature. ( 24881613 )
2014
32
Encephalocraniocutaneous lipomatosis: magnetic resonance imaging findings in a child. ( 23452587 )
2013
33
Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature. ( 23723477 )
2013
34
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). ( 23819449 )
2013
35
A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). ( 23858340 )
2013
36
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. ( 24604937 )
2013
37
Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. ( 21717164 )
2012
38
Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas? ( 21983849 )
2012
39
Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies. ( 23197919 )
2012
40
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. ( 21626669 )
2011
41
Imaging findings in encephalocraniocutaneous lipomatosis. ( 21844526 )
2011
42
Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. ( 21882925 )
2011
43
Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. ( 19652916 )
2010
44
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. ( 20881536 )
2010
45
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). ( 19215040 )
2009
46
Encephalocraniocutaneous lipomatosis. ( 19574261 )
2009
47
A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). ( 20232658 )
2009
48
Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. ( 18283193 )
2008
49
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. ( 18568254 )
2008
50
Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. ( 17258481 )
2007

Variations for Encephalocraniocutaneous Lipomatosis

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

76
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn546Lys VAR_075853 rs779707422
2 FGFR1 p.Lys656Glu VAR_075855 rs869320694

ClinVar genetic disease variations for Encephalocraniocutaneous Lipomatosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh37 Chromosome 8, 38282064: 38282064
2 FGFR1 NM_023110.2(FGFR1): c.899T> C (p.Ile300Thr) single nucleotide variant Uncertain significance rs121909633 GRCh38 Chromosome 8, 38424546: 38424546
3 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh37 Chromosome 8, 38277238: 38277238
4 FGFR1 NM_023110.2(FGFR1): c.1097C> T (p.Pro366Leu) single nucleotide variant Likely pathogenic rs121909641 GRCh38 Chromosome 8, 38419720: 38419720
5 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
6 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 GRCh38 Chromosome 8, 38417331: 38417331
7 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
8 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh38 Chromosome 8, 38414790: 38414790

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 FGFR1 HMGA2
2 12.03 HMGA2 KRAS
3
Show member pathways
12.01 FGFR1 KRAS
4
Show member pathways
11.95 FGFR1 KRAS
5
Show member pathways
11.92 FGFR1 KRAS
6 11.78 FGFR1 KRAS
7
Show member pathways
11.74 FGFR1 KRAS
8
Show member pathways
11.69 FGFR1 KRAS
9
Show member pathways
11.66 FGFR1 KRAS
10 11.59 FGFR1 KRAS
11
Show member pathways
11.57 FGFR1 KRAS
12 11.46 FGFR1 KRAS
13 11.27 FGFR1 KRAS
14
Show member pathways
11.21 FGFR1 KRAS
15
Show member pathways
11.07 FGFR1 KRAS
16 10.9 FGFR1 KRAS
17 10.77 FGFR1 KRAS
18 10.26 FGFR1 KRAS

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 9.32 FGFR1 KRAS
2 positive regulation of MAP kinase activity GO:0043406 9.26 FGFR1 KRAS
3 chondrocyte differentiation GO:0002062 9.16 FGFR1 HMGA2
4 positive regulation of cellular senescence GO:2000774 8.96 HMGA2 KRAS
5 mesenchymal cell differentiation GO:0048762 8.62 FGFR1 HMGA2

Sources for Encephalocraniocutaneous Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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