MCID: ENC010
MIFTS: 48

Encephalocraniocutaneous Lipomatosis

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 53 49 24 55 71 28
Eccl 53 49 24 71
Haberland Syndrome 49 24 55
Fishman Syndrome 49 24

Characteristics:

Orphanet epidemiological data:

55
encephalocraniocutaneous lipomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

53
Inheritance:
somatic mosaicism


HPO:

31
encephalocraniocutaneous lipomatosis:
Inheritance somatic mosaicism sporadic


Classifications:

Orphanet: 55  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

OMIM : 53 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 pilocytic astrocytoma, and has symptoms including seizures, hemiplegia and hemiparesis. An important gene associated with Encephalocraniocutaneous Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are MicroRNAs in cancer and mTOR signaling pathway (KEGG). Affiliated tissues include skin, eye and brain.

Genetics Home Reference : 24 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.

UniProtKB/Swiss-Prot : 71 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 : 72 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

Symptoms via clinical synopsis from OMIM:

53
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 Vascular:
peripheral pulmonary stenosis
abnormal cerebral vessels
meningeal angiomatosis

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 Heart:
ventricular septal defect (vsd)
atrial septal defect (asd)
coarctation
hypoplasia thoracic aorta
bicommissural aortic valve
more
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

Human phenotypes related to Encephalocraniocutaneous Lipomatosis:

55 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 hemiplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002301
3 hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001269
4 macrocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000256
5 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
8 dysphasia 55 31 frequent (33%) Frequent (79-30%) HP:0002357
9 tetraplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002445
10 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
11 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
12 skeletal dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002652
13 craniofacial hyperostosis 55 31 frequent (33%) Frequent (79-30%) HP:0004493
14 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
15 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
16 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001482
17 dysostosis multiplex 55 31 occasional (7.5%) Occasional (29-5%) HP:0000943
18 pulmonary arterial hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0002092
19 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
20 coarctation of aorta 55 31 occasional (7.5%) Occasional (29-5%) HP:0001680
21 multiple lipomas 55 31 hallmark (90%) Very frequent (99-80%) HP:0001012
22 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
23 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
24 aphasia 55 31 frequent (33%) Frequent (79-30%) HP:0002381
25 abnormality of the eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000499
26 rigidity 55 31 frequent (33%) Frequent (79-30%) HP:0002063
27 capillary hemangiomas 55 31 frequent (33%) Frequent (79-30%) HP:0005306
28 visceral angiomatosis 55 31 frequent (33%) Frequent (79-30%) HP:0100761
29 paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003470
30 nevus flammeus 55 31 frequent (33%) Frequent (79-30%) HP:0001052
31 osteolysis 55 31 frequent (33%) Frequent (79-30%) HP:0002797
32 absent septum pellucidum 55 31 frequent (33%) Frequent (79-30%) HP:0001331
33 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
34 bone cyst 55 31 frequent (33%) Frequent (79-30%) HP:0012062
35 interrupted aortic arch 55 31 occasional (7.5%) Occasional (29-5%) HP:0011611
36 aortic valve stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001650
37 tricuspid valve prolapse 55 31 frequent (33%) Frequent (79-30%) HP:0001704
38 xanthomatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000991
39 lipodystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009125
40 echolalia 55 31 frequent (33%) Frequent (79-30%) HP:0010529
41 abnormal cartilage morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0002763
42 mutism 55 31 frequent (33%) Frequent (79-30%) HP:0002300
43 muscle stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0003552
44 neoplasm of the skeletal system 55 31 frequent (33%) Frequent (79-30%) HP:0010622
45 subcortical cerebral atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0012157
46 osteochondrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0040188
47 hydrocephalus 31 HP:0000238
48 neurological speech impairment 55 Frequent (79-30%)
49 behavioral abnormality 55 Frequent (79-30%)
50 hypertonia 55 Frequent (79-30%)

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

MalaCards organs/tissues related to Encephalocraniocutaneous Lipomatosis:

38
Skin, Eye, Brain, Bone, Kidney, Amygdala, Spinal Cord

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 95)
# Title Authors Year
1
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
2
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
3
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
4
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. ( 29192135 )
2017
5
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
6
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
7
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
8
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. ( 27579462 )
2016
9
Encephalocraniocutaneous Lipomatosis Without OcularA Malformations. ( 27131628 )
2016
10
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
11
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis. ( 27882255 )
2016
12
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. ( 26942290 )
2016
13
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
2016
14
Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. ( 28164079 )
2016
15
Encephalocraniocutaneous lipomatosis. ( 26564086 )
2015
16
Characteristic imaging findings in encephalocraniocutaneous lipomatosis. ( 25825465 )
2015
17
Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis. ( 26344330 )
2015
18
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
19
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
20
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. ( 26231568 )
2015
21
Encephalocraniocutaneous Lipomatosis: A Case With Long Term Follow-up. ( 24384349 )
2014
22
Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis-a case report and review of the literature. ( 23974968 )
2014
23
Encephalocraniocutaneous lipomatosis: a case report and review of the literature. ( 24881613 )
2014
24
A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). ( 23858340 )
2013
25
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). ( 23819449 )
2013
26
Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome. ( 24070220 )
2013
27
Encephalocraniocutaneous Lipomatosis With Neurocutaneous Melanosis. ( 23620525 )
2013
28
Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature. ( 23723477 )
2013
29
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. ( 24604937 )
2013
30
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. ( 23942743 )
2013
31
Encephalocraniocutaneous lipomatosis: magnetic resonance imaging findings in a child. ( 23452587 )
2013
32
Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies. ( 23197919 )
2012
33
Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas? ( 21983849 )
2012
34
Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. ( 21717164 )
2012
35
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. ( 21626669 )
2011
36
Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. ( 21882925 )
2011
37
Imaging findings in encephalocraniocutaneous lipomatosis. ( 21844526 )
2011
38
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. ( 20881536 )
2010
39
Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. ( 19652916 )
2010
40
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). ( 19215040 )
2009
41
A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). ( 20232658 )
2009
42
Encephalocraniocutaneous lipomatosis. ( 19574261 )
2009
43
Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. ( 18283193 )
2008
44
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. ( 18568254 )
2008
45
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? ( 18000896 )
2007
46
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. ( 17963257 )
2007
47
Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. ( 17314447 )
2007
48
Brain anomalies in encephalocraniocutaneous lipomatosis. ( 18000987 )
2007
49
Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. ( 17258481 )
2007
50
Encephalocraniocutaneous lipomatosis. ( 16585824 )
2006

Variations for Encephalocraniocutaneous Lipomatosis

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

71
# 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.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
2 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308

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 15)
# Super pathways Score Top Affiliating Genes
1 12.02 HMGA2 KRAS
2
Show member pathways
11.99 FGFR1 KRAS
3
Show member pathways
11.92 FGFR1 KRAS
4
Show member pathways
11.9 FGFR1 KRAS
5 11.76 FGFR1 KRAS
6
Show member pathways
11.72 FGFR1 KRAS
7
Show member pathways
11.72 FGFR1 KRAS
8
Show member pathways
11.65 FGFR1 KRAS
9
Show member pathways
11.57 FGFR1 KRAS
10 11.46 FGFR1 KRAS
11
Show member pathways
11.21 FGFR1 KRAS
12
Show member pathways
11.07 FGFR1 KRAS
13 10.87 FGFR1 KRAS
14 10.77 FGFR1 KRAS
15 10.25 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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