NPLCS
MCID: NSP016
MIFTS: 26

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 58 60
Nasopalpebral Lipoma Coloboma Syndrome 54 6 74
Palpebral Coloboma-Lipoma Syndrome 58
Palpebral Coloboma Lipoma Syndrome 54
Nplcs 58

Characteristics:

Orphanet epidemiological data:

60
nasopalpebral lipoma-coloboma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
nasopalpebral lipoma-coloboma syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Nasopalpebral Lipoma-Coloboma Syndrome

OMIM : 58 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 and smooth muscle, 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 10.7
3 pleomorphic lipoma 10.7
4 keratoconus 10.4
5 telecanthus 10.4

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple lipomas 60 33 hallmark (90%) Very frequent (99-80%) HP:0001012
2 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
3 coloboma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000589
4 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
5 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
6 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
7 corneal opacity 60 33 frequent (33%) Frequent (79-30%) HP:0007957
8 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
9 recurrent upper respiratory tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0002788
10 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
11 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
12 hypoplasia of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000327
13 wide nose 60 33 frequent (33%) Frequent (79-30%) HP:0000445
14 severe postnatal growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008850
15 depressed nasal tip 60 33 frequent (33%) Frequent (79-30%) HP:0000437
16 sparse eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0045075
17 exotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000577
18 widow's peak 60 33 frequent (33%) Frequent (79-30%) HP:0000349
19 conjunctival hyperemia 60 33 frequent (33%) Frequent (79-30%) HP:0030953
20 lacrimal punctal atresia 60 33 frequent (33%) Frequent (79-30%) HP:0007820
21 hamartoma of the orbital region 60 33 frequent (33%) Frequent (79-30%) HP:0030670
22 cutaneous hamartoma 60 33 frequent (33%) Frequent (79-30%) HP:0031111
23 epiphora 33 frequent (33%) HP:0009926
24 abnormal eyelash morphology 33 frequent (33%) HP:0000499
25 lipomas of eyelids 33 frequent (33%) HP:0040164
26 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
27 cupped ear 60 33 occasional (7.5%) Occasional (29-5%) HP:0000378
28 bilateral microphthalmos 60 33 occasional (7.5%) Occasional (29-5%) HP:0007633
29 abnormality of cartilage of external ear 60 33 occasional (7.5%) Occasional (29-5%) HP:3000022
30 microphthalmia 60 33 Frequent (79-30%) HP:0000568
31 depressed nasal bridge 33 HP:0005280
32 wide nasal bridge 33 HP:0000431
33 abnormality of the eyelashes 60 Frequent (79-30%)
34 morphological abnormality of the central nervous system 60 Excluded (0%)
35 lower eyelid coloboma 33 HP:0000652
36 upper eyelid coloboma 33 HP:0000636
37 increased lacrimation 60 Frequent (79-30%)
38 lipomas of upper eyelids 60 Frequent (79-30%)
39 absent lacrimal punctum 33 HP:0001092
40 ectopic lacrimal punctum 33 HP:0010748

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
dysplastic ears
cupped ears

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 Nose:
depressed nasal bridge
broad nasal bridge

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

Search Clinical Trials , 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:

42
Eye, Smooth Muscle

Publications for Nasopalpebral Lipoma-Coloboma Syndrome

Articles related to Nasopalpebral Lipoma-Coloboma Syndrome:

# Title Authors Year
1
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. ( 27139419 )
2016
2
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. ( 23636874 )
2013
3
Nasopalpebral lipoma coloboma syndrome. ( 21836344 )
2011
4
Nasopalpebral lipoma-coloboma syndrome. ( 11115270 )
2000
5
Nasopalpebral lipoma-coloboma syndrome. ( 1756608 )
1991
6
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. ( 7091184 )
1982

Variations for Nasopalpebral Lipoma-Coloboma Syndrome

ClinVar genetic disease variations for Nasopalpebral Lipoma-Coloboma Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZDBF2 NM_020923.2(ZDBF2): c.6248_6249dupTT (p.Asn2084Leufs) duplication Uncertain significance rs879255650 GRCh38 Chromosome 2, 206310776: 206310777
2 ZDBF2 NM_020923.2(ZDBF2): c.6248_6249dupTT (p.Asn2084Leufs) duplication Uncertain significance rs879255650 GRCh37 Chromosome 2, 207175500: 207175501

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
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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