MCID: ENC010
MIFTS: 42

Encephalocraniocutaneous Lipomatosis

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Encephalocraniocutaneous Lipomatosis

MalaCards integrated aliases for Encephalocraniocutaneous Lipomatosis:

Name: Encephalocraniocutaneous Lipomatosis 54 50 25 56 71 29
Haberland Syndrome 50 25 56
Eccl 50 25 71
Fishman Syndrome 50 25

Characteristics:

Orphanet epidemiological data:

56
encephalocraniocutaneous lipomatosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

54
Inheritance:
somatic mosaicism


HPO:

32
encephalocraniocutaneous lipomatosis:
Inheritance sporadic


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Encephalocraniocutaneous Lipomatosis

OMIM : 54
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 haberland syndrome, is related to papillorenal syndrome and lipomatosis, and has symptoms including seizures, hydrocephalus and alopecia. An important gene associated with Encephalocraniocutaneous Lipomatosis is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Development FGFR signaling pathway. Affiliated tissues include skin, eye and brain.

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.

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.

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:

54

Neurologic- Central Nervous System:
thin corpus callosum
hydrocephalus
cerebellar hypoplasia
agenesis of the corpus callosum
psychomotor retardation
more
Head And Neck- Eyes:
microphthalmia
sclerocornea
iris hypoplasia
anterior chamber anomalies
epibulbar dermoids
more
Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Ears:
ear abnormalities

Skeletal- Skull:
turricephalic skull

Skeletal- Limbs:
leg asymmetry
skeletal cysts

Muscle Soft Tissue:
subcutaneous lipomatous tissue

Skin Nails & Hair- Hair:
alopecia
irregular eyebrows

Genitourinary- Kidneys:
hydronephrosis
pelvic kidney

Cardiovascular- Vascular:
peripheral pulmonary stenosis
abnormal cerebral vessels
meningeal angiomatosis

Cardiovascular- Heart:
coarctation
hypoplasia thoracic aorta
bicommissural aortic valve
subvalvular aortic stenosis
atrial septal defect (asd)
more
Skeletal- Spine:
spinal lipoma

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

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


Clinical features from OMIM:

613001

Human phenotypes related to Encephalocraniocutaneous Lipomatosis:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hydrocephalus 32 HP:0000238
3 alopecia 32 HP:0001596
4 atrial septal defect 32 HP:0001631
5 microphthalmia 32 HP:0000568
6 cerebellar hypoplasia 32 HP:0001321
7 global developmental delay 32 HP:0001263
8 hydronephrosis 32 HP:0000126
9 sclerocornea 32 HP:0000647
10 cryptorchidism 32 HP:0000028
11 hypoplasia of the corpus callosum 32 HP:0002079
12 agenesis of corpus callosum 32 HP:0001274
13 dandy-walker malformation 32 HP:0001305
14 cortical dysplasia 32 HP:0002539
15 subaortic stenosis 32 HP:0001682
16 hypoplasia of the iris 32 HP:0007676
17 peripheral pulmonary artery stenosis 32 HP:0004969
18 pelvic kidney 32 HP:0000125
19 linear hyperpigmentation 32 HP:0007546
20 arachnoid cyst 32 HP:0100702
21 lipoma 32 HP:0012032
22 epibulbar dermoid 32 HP:0001140
23 cleft eyelid 32 HP:0000625
24 subcutaneous lipoma 32 HP:0001031
25 abnormality of the anterior chamber 32 HP:0000593
26 lipomas of the central neryous system 32 HP:0100251

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:

id Genetic test Affiliating Genes
1 Encephalocraniocutaneous Lipomatosis 29

Anatomical Context for Encephalocraniocutaneous Lipomatosis

MalaCards organs/tissues related to Encephalocraniocutaneous Lipomatosis:

39
Skin, Eye, Brain, Bone, Kidney, Amygdala, Spinal Cord

Publications for Encephalocraniocutaneous Lipomatosis

Articles related to Encephalocraniocutaneous Lipomatosis:

(show top 50) (show all 94)
id 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
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. ( 26970110 )
2016
5
A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. ( 28018467 )
2016
6
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A rare case report. ( 27990391 )
2016
7
Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement. ( 27222873 )
2016
8
Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis. ( 27882255 )
2016
9
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
10
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. ( 26942290 )
2016
11
Encephalocraniocutaneous Lipomatosis Without OcularA Malformations. ( 27131628 )
2016
12
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. ( 27579462 )
2016
13
Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report. ( 28164079 )
2016
14
Characteristic imaging findings in encephalocraniocutaneous lipomatosis. ( 25825465 )
2015
15
Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. ( 26231568 )
2015
16
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. ( 28503585 )
2015
17
Neuroimaging Findings in Encephalocraniocutaneous Lipomatosis. ( 26344330 )
2015
18
Encephalocraniocutaneous lipomatosis. ( 26564086 )
2015
19
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
20
Encephalocraniocutaneous lipomatosis: a case report and review of the literature. ( 24881613 )
2014
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 With Neurocutaneous Melanosis. ( 23620525 )
2013
24
Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature. ( 23723477 )
2013
25
Encephalocraniocutaneous lipomatosis: magnetic resonance imaging findings in a child. ( 23452587 )
2013
26
A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). ( 23858340 )
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 calvarial exostosis - Case report and review of literature. ( 24604937 )
2013
29
Persistent multifocal atrial tachycardia in infant with encephalocraniocutaneous lipomatosis: a case report. ( 23942743 )
2013
30
Encephalocraniocutaneous lipomatosis: congenital alopecia treatment in a rare neurocutaneous syndrome. ( 24070220 )
2013
31
Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. ( 21717164 )
2012
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 (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. ( 21626669 )
2011
35
Imaging findings in encephalocraniocutaneous lipomatosis. ( 21844526 )
2011
36
Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. ( 21882925 )
2011
37
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. ( 20881536 )
2010
38
Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. ( 19652916 )
2010
39
Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). ( 19215040 )
2009
40
Encephalocraniocutaneous lipomatosis. ( 19574261 )
2009
41
A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). ( 20232658 )
2009
42
Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. ( 18283193 )
2008
43
Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. ( 18568254 )
2008
44
Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. ( 17963257 )
2007
45
Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. ( 17314447 )
2007
46
Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. ( 17258481 )
2007
47
Brain anomalies in encephalocraniocutaneous lipomatosis. ( 18000987 )
2007
48
Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? ( 18000896 )
2007
49
Encephalocraniocutaneous lipomatosis. ( 16585824 )
2006
50
Encephalocraniocutaneous lipomatosis: clinical spectrum of systemic involvement. ( 16445407 )
2006

Variations for Encephalocraniocutaneous Lipomatosis

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

71
id Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn546Lys VAR_075853
2 FGFR1 p.Lys656Glu VAR_075855 rs869320694

ClinVar genetic disease variations for Encephalocraniocutaneous Lipomatosis:

6
id 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 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 FGFR1 KRAS
2
Show member pathways
11.89 FGFR1 KRAS
3
Show member pathways
11.88 FGFR1 KRAS
4 11.74 FGFR1 KRAS
5
Show member pathways
11.73 FGFR1 KRAS
6
Show member pathways
11.69 FGFR1 KRAS
7
Show member pathways
11.62 FGFR1 KRAS
8
Show member pathways
11.52 FGFR1 KRAS
9 11.4 FGFR1 KRAS
10
Show member pathways
11.11 FGFR1 KRAS
11
Show member pathways
10.87 FGFR1 KRAS
12 10.44 FGFR1 KRAS

GO Terms for Encephalocraniocutaneous Lipomatosis

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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