FDLAB
MCID: FCL078
MIFTS: 28

Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs (FDLAB)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

MalaCards integrated aliases for Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

Name: Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 57 72 29 6
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 57 72 39 70
Traboulsi Syndrome 57 58 72
Shawaf-Traboulsi Syndrome 57 72
Fdlab Syndrome 58 36
Fdlab 57 72
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Nontraumatic Conjunctive Cysts Syndrome 58
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable dysmorphic features may be present


HPO:

31
facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 601552
KEGG 36 H02255
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1832167
Orphanet 58 ORPHA412022
MedGen 41 C1832167
UMLS 70 C1832167

Summaries for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

UniProtKB/Swiss-Prot : 72 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs: A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs).

MalaCards based summary : Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs, also known as ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism, is related to isolated ectopia lentis and velocardiofacial syndrome. An important gene associated with Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs is ASPH (Aspartate Beta-Hydroxylase). Affiliated tissues include eye, and related phenotypes are microphthalmia and wide nose

OMIM® : 57 Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014). (601552) (Updated 05-Apr-2021)

KEGG : 36 Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase.

Related Diseases for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Diseases related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 10.6
2 velocardiofacial syndrome 10.5
3 marfan syndrome 10.0
4 pneumothorax, primary spontaneous 10.0
5 ventricular septal defect 10.0
6 pneumothorax 10.0
7 heart septal defect 10.0
8 homocystinuria 10.0

Graphical network of the top 20 diseases related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:



Diseases related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs

Symptoms & Phenotypes for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Human phenotypes related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microphthalmia 31 occasional (7.5%) HP:0000568
2 wide nose 31 occasional (7.5%) HP:0000445
3 low intraocular pressure 31 occasional (7.5%) HP:0032547
4 dental malocclusion 31 HP:0000689
5 abnormal facial shape 31 HP:0001999
6 retrognathia 31 HP:0000278
7 ectopia lentis 31 HP:0001083
8 downslanted palpebral fissures 31 HP:0000494
9 convex nasal ridge 31 HP:0000444
10 prominent nose 31 HP:0000448
11 large beaked nose 31 HP:0003683
12 iris atrophy 31 HP:0001089

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
retrognathia
elongated face
craniofacial dysmorphism
triangular chin
flat cheeks

Head And Neck Nose:
prominent nose
beaked nose
broad nose

Head And Neck Eyes:
ectopia lentis
downslanting palpebral fissures
spherophakia (in some patients)
avascular conjunctival cystic elevations (filtering blebs)
iridocorneal adhesions
more
Head And Neck Teeth:
malocclusion (in some patients)

Clinical features from OMIM®:

601552 (Updated 05-Apr-2021)

Drugs & Therapeutics for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Search Clinical Trials , NIH Clinical Center for Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs

Genetic Tests for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Genetic tests related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

# Genetic test Affiliating Genes
1 Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs 29 ASPH

Anatomical Context for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

MalaCards organs/tissues related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

40
Eye

Publications for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Articles related to Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

# Title Authors PMID Year
1
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. 61 57 6
24768550 2014
2
Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. 6 57 61
23687502 2013
3
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome. 6 57
30194805 2018
4
Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. 6 57
11241487 2001
5
A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. 61 57
8749053 1995
6
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis. 61
31274573 2019

Variations for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

ClinVar genetic disease variations for Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASPH NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs) Indel Pathogenic 137614 rs879255574 GRCh37: 8:62438580-62438584
GRCh38: 8:61526021-61526025
2 ASPH NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp) SNV Pathogenic 137615 rs374385878 GRCh37: 8:62415992-62415992
GRCh38: 8:61503433-61503433
3 ASPH NM_004318.4(ASPH):c.171G>A (p.Trp57Ter) SNV Pathogenic 623642 rs1563580963 GRCh37: 8:62596680-62596680
GRCh38: 8:61684121-61684121
4 ASPH NM_004318.4(ASPH):c.518del (p.Asp173fs) Deletion Pathogenic 422209 rs80163539 GRCh37: 8:62559410-62559410
GRCh38: 8:61646851-61646851
5 ASPH NM_004318.4(ASPH):c.323-11633T>G SNV Pathogenic 1032194 GRCh37: 8:62577852-62577852
GRCh38: 8:61665293-61665293

UniProtKB/Swiss-Prot genetic disease variations for Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs:

72
# Symbol AA change Variation ID SNP ID
1 ASPH p.Arg735Trp VAR_071821 rs374385878

Expression for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Search GEO for disease gene expression data for Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs.

Pathways for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

GO Terms for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

Sources for Facial Dysmorphism, Lens Dislocation, Anterior Segment...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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