NPLCS
MCID: NSP016
MIFTS: 28

Nasopalpebral Lipoma-Coloboma Syndrome (NPLCS)

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Nasopalpebral Lipoma-Coloboma Syndrome

MalaCards integrated aliases for Nasopalpebral Lipoma-Coloboma Syndrome:

Name: Nasopalpebral Lipoma-Coloboma Syndrome 56 58 6
Nasopalpebral Lipoma Coloboma Syndrome 52 71
Palpebral Coloboma-Lipoma Syndrome 56
Palpebral Coloboma Lipoma Syndrome 52
Nplcs 56

Characteristics:

Orphanet epidemiological data:

58
nasopalpebral lipoma-coloboma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
nasopalpebral lipoma-coloboma syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Nasopalpebral Lipoma-Coloboma Syndrome

OMIM : 56 Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011). (167730)

MalaCards based summary : Nasopalpebral Lipoma-Coloboma Syndrome, also known as nasopalpebral lipoma coloboma syndrome, is related to coloboma of macula and lipomatosis, multiple. An important gene associated with Nasopalpebral Lipoma-Coloboma Syndrome is ZDBF2 (Zinc Finger DBF-Type Containing 2). Affiliated tissues include eye, smooth muscle and liver, and related phenotypes are multiple lipomas and telecanthus

Related Diseases for Nasopalpebral Lipoma-Coloboma Syndrome

Diseases related to Nasopalpebral Lipoma-Coloboma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.8
2 lipomatosis, multiple 10.8
3 pleomorphic lipoma 10.8
4 telecanthus 10.7
5 strabismus 10.4
6 mechanical strabismus 10.4
7 anorexia nervosa 10.2
8 choriocarcinoma 10.2
9 depression 10.2

Graphical network of the top 20 diseases related to Nasopalpebral Lipoma-Coloboma Syndrome:



Diseases related to Nasopalpebral Lipoma-Coloboma Syndrome

Symptoms & Phenotypes for Nasopalpebral Lipoma-Coloboma Syndrome

Human phenotypes related to Nasopalpebral Lipoma-Coloboma Syndrome:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001012
2 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
3 coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000589
4 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
5 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
9 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
10 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
11 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
12 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
13 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
14 severe postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008850
15 depressed nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000437
16 sparse eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045075
17 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
18 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
19 epiphora 58 31 frequent (33%) Frequent (79-30%) HP:0009926
20 conjunctival hyperemia 58 31 frequent (33%) Frequent (79-30%) HP:0030953
21 lacrimal punctal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0007820
22 hamartoma of the orbital region 58 31 frequent (33%) Frequent (79-30%) HP:0030670
23 cutaneous hamartoma 58 31 frequent (33%) Frequent (79-30%) HP:0031111
24 abnormal eyelash morphology 31 frequent (33%) HP:0000499
25 lipomas of eyelids 31 frequent (33%) HP:0040164
26 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
27 cupped ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000378
28 bilateral microphthalmos 58 31 occasional (7.5%) Occasional (29-5%) HP:0007633
29 abnormality of cartilage of external ear 58 31 occasional (7.5%) Occasional (29-5%) HP:3000022
30 microphthalmia 58 31 Frequent (79-30%) HP:0000568
31 depressed nasal bridge 31 HP:0005280
32 wide nasal bridge 31 HP:0000431
33 abnormality of the eyelashes 58 Frequent (79-30%)
34 lower eyelid coloboma 31 HP:0000652
35 morphological abnormality of the central nervous system 58 Excluded (0%)
36 absent lacrimal punctum 31 HP:0001092
37 upper eyelid coloboma 31 HP:0000636
38 lipomas of upper eyelids 58 Frequent (79-30%)
39 ectopic lacrimal punctum 31 HP:0010748

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Head And Neck Head:
dolichocephaly

Head And Neck Eyes:
telecanthus
conjunctival hyperemia
upper and lower lid colobomas, bilateral symmetric
flaring of medial eyebrow
malpositioning or aplasia of lacrimal punctae
more
Skin Nails Hair Hair:
widow's peak

Muscle Soft Tissue:
histologic examination of tumor tissue shows mixed smooth muscle hamartoma and lipoma

Head And Neck Ears:
low-set ears
dysplastic ears
cupped ears

Skeletal Skull:
dolichocephaly

Head And Neck Face:
broad forehead
maxillary hypoplasia
nasopalpebral lipomas, bilateral symmetric

Skeletal Hands:
fifth finger clinodactyly, bilateral

Clinical features from OMIM:

167730

Drugs & Therapeutics for Nasopalpebral Lipoma-Coloboma Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Web-enabled Integrated Care Pathway (ICP) for Addressing Multiple Modifiable Risk Factors as a Part of Smoking Cessation Treatment in Primary Care Settings. Recruiting NCT04223336

Search NIH Clinical Center for Nasopalpebral Lipoma-Coloboma Syndrome

Genetic Tests for Nasopalpebral Lipoma-Coloboma Syndrome

Anatomical Context for Nasopalpebral Lipoma-Coloboma Syndrome

MalaCards organs/tissues related to Nasopalpebral Lipoma-Coloboma Syndrome:

40
Eye, Smooth Muscle, Liver, Bone Marrow, Bone

Publications for Nasopalpebral Lipoma-Coloboma Syndrome

Articles related to Nasopalpebral Lipoma-Coloboma Syndrome:

(show all 17)
# Title Authors PMID Year
1
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. 61 56
27139419 2016
2
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. 61 56
23636874 2013
3
Nasopalpebral lipoma-coloboma syndrome. 61 56
11115270 2000
4
Nasopalpebral lipoma-coloboma syndrome. 56 61
1756608 1991
5
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. 61 56
7091184 1982
6
The transcription factor c-Jun/AP-1 promotes liver fibrosis during non-alcoholic steatohepatitis by regulating Osteopontin expression. 61
30778201 2019
7
Human Pluripotent Stem Cell-Derived Tumor Model Uncovers the Embryonic Stem Cell Signature as a Key Driver in Atypical Teratoid/Rhabdoid Tumor. 61
30840885 2019
8
Nurse practitioner's perceptions of the impact of the nurse practitioner-led clinic model on the quality of care of complex patients. 61
29310746 2018
9
Politics and Professions: Interdisciplinary Team Models and Their Implications for Health Equity in Ontario. 61
28689472 2018
10
A Multiple-Case Study in Nurse Practitioner-Led Clinics: An Exploration of the Quality of Care for Patients with Multimorbidity. 61
28032834 2016
11
Syndromic lipomatosis of the head and neck: a review of the literature. 61
25860506 2015
12
Generation of functional insulin-producing cells from neonatal porcine liver-derived cells by PDX1/VP16, BETA2/NeuroD and MafA. 61
24260156 2013
13
Nasopalpebral lipoma coloboma syndrome. 61
21836344 2011
14
Efficient in vitro generation of adult multipotent cells from mobilized peripheral blood CD133+ cells. 61
18211283 2008
15
Role of Hepatic Stellate Cells in the Early Phase of Liver Regeneration in Rat: Formation of Tight Adhesion to Parenchymal Cells. 61
14960181 2004
16
[Nasopalpebral lipoma-coloboma syndrome]. 61
11528735 2001
17
Stimulation of liver functions in hierarchical co-culture of bone marrow cells and hepatocytes. 61
22359001 1998

Variations for Nasopalpebral Lipoma-Coloboma Syndrome

ClinVar genetic disease variations for Nasopalpebral Lipoma-Coloboma Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZDBF2 NM_020923.3(ZDBF2):c.6248_6249dup (p.Asn2084fs)duplication Uncertain significance 253174 rs879255650 2:207175497-207175498 2:206310773-206310774

Expression for Nasopalpebral Lipoma-Coloboma Syndrome

Search GEO for disease gene expression data for Nasopalpebral Lipoma-Coloboma Syndrome.

Pathways for Nasopalpebral Lipoma-Coloboma Syndrome

GO Terms for Nasopalpebral Lipoma-Coloboma Syndrome

Sources for Nasopalpebral Lipoma-Coloboma Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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