MCID: ENC010
MIFTS: 47

Encephalocraniocutaneous Lipomatosis

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 57 53 25 59 75 29 6
Eccl 57 53 25 75
Haberland Syndrome 53 25 59
Fishman Syndrome 53 25
Lipomatosis, Encephalocraniocutaneous 40

Characteristics:

Orphanet epidemiological data:

59
encephalocraniocutaneous lipomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
somatic mosaicism


HPO:

32
encephalocraniocutaneous lipomatosis:
Inheritance somatic mosaicism sporadic


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

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, 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. 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, and related phenotypes are macrocephaly and agenesis of corpus callosum

Genetics Home Reference : 25 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 : 75 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 : 76 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:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Encephalocraniocutaneous Lipomatosis:

59 32 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000256
2 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 dysphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002357
7 tetraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002445
8 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 skeletal dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002652
11 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
12 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
13 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
14 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
15 dysostosis multiplex 59 32 occasional (7.5%) Occasional (29-5%) HP:0000943
16 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
17 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
18 coarctation of aorta 59 32 occasional (7.5%) Occasional (29-5%) HP:0001680
19 multiple lipomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001012
20 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
21 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
22 aphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002381
23 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
24 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
25 visceral angiomatosis 59 32 frequent (33%) Frequent (79-30%) HP:0100761
26 paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003470
27 nevus flammeus 59 32 frequent (33%) Frequent (79-30%) HP:0001052
28 osteolysis 59 32 frequent (33%) Frequent (79-30%) HP:0002797
29 absent septum pellucidum 59 32 frequent (33%) Frequent (79-30%) HP:0001331
30 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
31 bone cyst 59 32 frequent (33%) Frequent (79-30%) HP:0012062
32 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
33 interrupted aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0011611
34 aortic valve stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001650
35 tricuspid valve prolapse 59 32 frequent (33%) Frequent (79-30%) HP:0001704
36 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
37 xanthomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000991
38 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
39 echolalia 59 32 frequent (33%) Frequent (79-30%) HP:0010529
40 abnormal cartilage morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0002763
41 mutism 59 32 frequent (33%) Frequent (79-30%) HP:0002300
42 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
43 neoplasm of the skeletal system 59 32 frequent (33%) Frequent (79-30%) HP:0010622
44 subcortical cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012157
45 osteochondrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0040188
46 hydrocephalus 32 HP:0000238
47 neurological speech impairment 59 Frequent (79-30%)
48 behavioral abnormality 59 Frequent (79-30%)
49 hypertonia 59 Frequent (79-30%)
50 cryptorchidism 32 HP:0000028

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:

41
Skin, Eye, Brain, Bone, Kidney, Amygdala, Spinal Cord

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 96)
# Title Authors Year
1
Encephalocraniocutaneous Lipomatosis. ( 29683947 )
2018
2
Encephalocraniocutaneous lipomatosis with Wilms' tumor. ( 28612492 )
2017
3
Partial Encephalocraniocutaneous Lipomatosis Syndrome. ( 28553398 )
2017
4
Encephalocraniocutaneous lipomatosis: A case report with review of literature. ( 28707961 )
2017
5
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome. ( 29192135 )
2017
6
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis. ( 27882255 )
2016
7
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
8
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
9
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
2016
10
Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. ( 28164079 )
2016
11
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
12
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
13
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. ( 26942290 )
2016
14
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. ( 27579462 )
2016
15
Encephalocraniocutaneous Lipomatosis Without OcularA Malformations. ( 27131628 )
2016
16
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
17
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. ( 26231568 )
2015
18
Characteristic imaging findings in encephalocraniocutaneous lipomatosis. ( 25825465 )
2015
19
Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis. ( 26344330 )
2015
20
Encephalocraniocutaneous lipomatosis. ( 26564086 )
2015
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
Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis-a case report and review of the literature. ( 23974968 )
2014
23
Encephalocraniocutaneous Lipomatosis: A Case With Long Term Follow-up. ( 24384349 )
2014
24
Encephalocraniocutaneous lipomatosis: a case report and review of the literature. ( 24881613 )
2014
25
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. ( 23942743 )
2013
26
Encephalocraniocutaneous lipomatosis with calvarial exostosis - Case report and review of literature. ( 24604937 )
2013
27
An infant with an alopecic plaque on the scalp and ocular choristomas: case presentation. Diagnosis: Encephalocraniocutaneous lipomatosis (ECCL). ( 23819449 )
2013
28
Encephalocraniocutaneous Lipomatosis With Neurocutaneous Melanosis. ( 23620525 )
2013
29
Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature. ( 23723477 )
2013
30
Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome. ( 24070220 )
2013
31
A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). ( 23858340 )
2013
32
Encephalocraniocutaneous lipomatosis: magnetic resonance imaging findings in a child. ( 23452587 )
2013
33
Encephalocraniocutaneous Lipomatosis without Neurologic Anomalies. ( 23197919 )
2012
34
Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas? ( 21983849 )
2012
35
Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. ( 21717164 )
2012
36
Imaging findings in encephalocraniocutaneous lipomatosis. ( 21844526 )
2011
37
Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. ( 21882925 )
2011
38
Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. ( 21626669 )
2011
39
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. ( 20881536 )
2010
40
Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. ( 19652916 )
2010
41
Encephalocraniocutaneous lipomatosis. ( 19574261 )
2009
42
A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). ( 20232658 )
2009
43
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). ( 19215040 )
2009
44
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. ( 18568254 )
2008
45
Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. ( 18283193 )
2008
46
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. ( 17963257 )
2007
47
Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. ( 17258481 )
2007
48
Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. ( 17314447 )
2007
49
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? ( 18000896 )
2007
50
Brain anomalies in encephalocraniocutaneous lipomatosis. ( 18000987 )
2007

Variations for Encephalocraniocutaneous Lipomatosis

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

75
# 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 rs779707422 GRCh37 Chromosome 8, 38274849: 38274849
2 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 GRCh38 Chromosome 8, 38417331: 38417331
3 FGFR1 NM_023110.2(FGFR1): c.1966A> G (p.Lys656Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869320694 GRCh37 Chromosome 8, 38272308: 38272308
4 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 15)
# Super pathways Score Top Affiliating Genes
1 12.02 HMGA2 KRAS
2
Show member pathways
12 FGFR1 KRAS
3
Show member pathways
11.94 FGFR1 KRAS
4
Show member pathways
11.93 FGFR1 KRAS
5 11.78 FGFR1 KRAS
6
Show member pathways
11.74 FGFR1 KRAS
7
Show member pathways
11.69 FGFR1 KRAS
8 11.65 FGFR1 KRAS
9
Show member pathways
11.6 FGFR1 KRAS
10 11.51 FGFR1 KRAS
11
Show member pathways
11.34 FGFR1 KRAS
12
Show member pathways
11.28 FGFR1 KRAS
13
Show member pathways
11.18 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....