MCID: FCL078
MIFTS: 21

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

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare 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 75 29 6
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 57 75 40 73
Traboulsi Syndrome 57 59 75
Fdlab 57 75
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Nontraumatic Conjunctive Cysts Syndrome 59
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome 59
Fdlab Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601552
Orphanet 59 ORPHA412022
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1832167
MedGen 42 C1832167
UMLS 73 C1832167

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

UniProtKB/Swiss-Prot : 75 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, is also known as ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. 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 dental malocclusion and abnormal facial shape

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
retrognathia
craniofacial dysmorphism
triangular chin (in some patients)
elongated face (in some patients)
flat cheeks (in some patients)

Head And Neck Eyes:
downslanting palpebral fissures (in some patients)
ectopia lentis spherophakia (in some patients)
avascular conjunctival cystic elevations (filtering blebs)
iridocorneal adhesions
flat anterior chamber
more
Head And Neck Nose:
prominent nose
beaked nose
broad nose (in some patients)

Head And Neck Teeth:
malocclusion (in some patients)


Clinical features from OMIM:

601552

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dental malocclusion 32 HP:0000689
2 abnormal facial shape 32 HP:0001999
3 retrognathia 32 HP:0000278
4 microphthalmia 32 occasional (7.5%) HP:0000568
5 ectopia lentis 32 HP:0001083
6 downslanted palpebral fissures 32 HP:0000494
7 convex nasal ridge 32 HP:0000444
8 wide nose 32 occasional (7.5%) HP:0000445
9 prominent nose 32 HP:0000448
10 large beaked nose 32 HP:0003683
11 iris atrophy 32 HP:0001089

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:

41
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 Year
1
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. ( 24768550 )
2014

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

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

75
# Symbol AA change Variation ID SNP ID
1 ASPH p.Arg735Trp VAR_071821 rs374385878

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ASPH NM_004318.3(ASPH): c.1852_1856delAACCTinsGGG (p.Asn618Glyfs) indel Pathogenic rs879255574 GRCh37 Chromosome 8, 62438580: 62438584
2 ASPH NM_004318.3(ASPH): c.1852_1856delAACCTinsGGG (p.Asn618Glyfs) indel Pathogenic rs879255574 GRCh38 Chromosome 8, 61526021: 61526025
3 ASPH NM_004318.3(ASPH): c.2203C> T (p.Arg735Trp) single nucleotide variant Pathogenic rs374385878 GRCh38 Chromosome 8, 61503433: 61503433
4 ASPH NM_004318.3(ASPH): c.2203C> T (p.Arg735Trp) single nucleotide variant Pathogenic rs374385878 GRCh37 Chromosome 8, 62415992: 62415992

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 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
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