MCID: NSP016
MIFTS: 25

Nasopalpebral Lipoma-Coloboma Syndrome

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Nasopalpebral Lipoma-Coloboma Syndrome

MalaCards integrated aliases for Nasopalpebral Lipoma-Coloboma Syndrome:

Name: Nasopalpebral Lipoma-Coloboma Syndrome 57 59
Nasopalpebral Lipoma Coloboma Syndrome 53 6 73
Palpebral Coloboma-Lipoma Syndrome 57
Palpebral Coloboma Lipoma Syndrome 53
Nplcs 57

Characteristics:

Orphanet epidemiological data:

59
nasopalpebral lipoma-coloboma syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nasopalpebral lipoma-coloboma syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Nasopalpebral Lipoma-Coloboma Syndrome

OMIM : 57 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 telecanthus. 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 hypertelorism and low-set ears

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 telecanthus 10.2

Symptoms & Phenotypes for Nasopalpebral Lipoma-Coloboma Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nasopalpebral Lipoma-Coloboma Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
4 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 recurrent upper respiratory tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0002788
7 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
8 multiple lipomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001012
9 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
10 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
11 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
12 microphthalmia 59 32 Frequent (79-30%) HP:0000568
13 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
14 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
15 wide nose 59 32 frequent (33%) Frequent (79-30%) HP:0000445
16 severe postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008850
17 depressed nasal tip 59 32 frequent (33%) Frequent (79-30%) HP:0000437
18 cupped ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000378
19 sparse eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0045075
20 coloboma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000589
21 exotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000577
22 widow's peak 59 32 frequent (33%) Frequent (79-30%) HP:0000349
23 conjunctival hyperemia 59 32 frequent (33%) Frequent (79-30%) HP:0030953
24 hamartoma of the orbital region 59 32 frequent (33%) Frequent (79-30%) HP:0030670
25 cutaneous hamartoma 59 32 frequent (33%) Frequent (79-30%) HP:0031111
26 bilateral microphthalmos 59 32 occasional (7.5%) Occasional (29-5%) HP:0007633
27 abnormality of cartilage of external ear 59 32 occasional (7.5%) Occasional (29-5%) HP:3000022
28 depressed nasal bridge 32 HP:0005280
29 wide nasal bridge 32 HP:0000431
30 morphological abnormality of the central nervous system 59 Excluded (0%)
31 lower eyelid coloboma 32 HP:0000652
32 upper eyelid coloboma 32 HP:0000636
33 increased lacrimation 59 Frequent (79-30%)
34 atretic lacrimal punctum 59 Frequent (79-30%)
35 lipomas of upper eyelids 59 Frequent (79-30%)
36 absent lacrimal punctum 32 HP:0001092
37 epiphora 32 frequent (33%) HP:0009926
38 lacrimal punctal atresia 32 frequent (33%) HP:0007820
39 ectopic lacrimal punctum 32 HP:0010748
40 lipomas of eyelids 32 frequent (33%) HP:0040164

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:

41
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 GRCh37 Chromosome 2, 207175500: 207175501
2 ZDBF2 NM_020923.2(ZDBF2): c.6248_6249dupTT (p.Asn2084Leufs) duplication Uncertain significance rs879255650 GRCh38 Chromosome 2, 206310776: 206310777

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 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....