AFA
MCID: ANK013
MIFTS: 23

Ankyloblepharon Filiforme Adnatum and Cleft Palate (AFA)

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ankyloblepharon Filiforme Adnatum and Cleft Palate

MalaCards integrated aliases for Ankyloblepharon Filiforme Adnatum and Cleft Palate:

Name: Ankyloblepharon Filiforme Adnatum and Cleft Palate 56 71
Congenital Filiform Fusion of the Eyelids with Cleft Palate and/or Cleft Lip 52
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome 58
Ankyloblepharon Filiforme Adnatum Cleft Palate 52
Ankyloblepharon Filiforme Congenitum 52
Ankyloblepharon Filiforme Adnatum 52
Afa 56

Characteristics:

Orphanet epidemiological data:

58
ankyloblepharon filiforme adnatum-cleft palate syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ankyloblepharon filiforme adnatum and cleft palate:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 106250
MESH via Orphanet 44 C536373
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1302999 C1862866
Orphanet 58 ORPHA1072
MedGen 41 C1862866
UMLS 71 C1862866

Summaries for Ankyloblepharon Filiforme Adnatum and Cleft Palate

MalaCards based summary : Ankyloblepharon Filiforme Adnatum and Cleft Palate, also known as congenital filiform fusion of the eyelids with cleft palate and/or cleft lip, is related to isolated ankyloblepharon filiforme adnatum and ankyloblepharon filiforme adnatum-imperforate anus syndrome. Affiliated tissues include eye, bone and skin, and related phenotypes are ankyloblepharon and cleft palate

More information from OMIM: 106250

Related Diseases for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Diseases related to Ankyloblepharon Filiforme Adnatum and Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 isolated ankyloblepharon filiforme adnatum 12.8
2 ankyloblepharon filiforme adnatum-imperforate anus syndrome 12.7
3 syndromic ankyloblepharon filiforme adnatum 12.7
4 ankyloblepharon-ectodermal defects-cleft lip/palate 12.3
5 acromegaloid facial appearance syndrome 12.1
6 bartsocas-papas syndrome 11.7
7 cleft lip 10.9
8 cleft lip/palate 10.9
9 anus, imperforate 10.7
10 wells syndrome 10.7
11 popliteal pterygium syndrome 10.6
12 chromosome 2q35 duplication syndrome 10.6
13 pyelonephritis 10.5
14 diarrhea 10.5
15 orofaciodigital syndrome viii 10.5
16 intraocular pressure quantitative trait locus 10.5
17 myelomeningocele 10.5
18 suppression amblyopia 10.5
19 amblyopia 10.5
20 hydrocephalus 10.5
21 ectodermal dysplasia 10.5
22 eye disease 10.5
23 microcephaly 10.5
24 hypotonia 10.5
25 cleft palate, isolated 10.5
26 cystitis 10.4
27 inflammatory bowel disease 10.3
28 acute cystitis 10.3
29 bacteriuria 10.3
30 synostosis 10.2
31 acute pyelonephritis 10.2
32 placenta disease 10.2
33 ulcerative colitis 10.2
34 crohn's disease 10.2
35 cantú syndrome and related disorders 10.2
36 rheumatoid arthritis 10.0
37 proteasome-associated autoinflammatory syndrome 1 10.0
38 tendinopathy 10.0
39 tendinitis 10.0
40 hemopericardium 10.0
41 pericardial effusion 10.0
42 prostatitis 10.0
43 ventricular septal defect 10.0
44 heart septal defect 10.0
45 intestinal disease 10.0
46 adenoma 10.0
47 chromosomal triplication 10.0

Graphical network of the top 20 diseases related to Ankyloblepharon Filiforme Adnatum and Cleft Palate:



Diseases related to Ankyloblepharon Filiforme Adnatum and Cleft Palate

Symptoms & Phenotypes for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Human phenotypes related to Ankyloblepharon Filiforme Adnatum and Cleft Palate:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
2 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
3 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
4 lip pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0100267
5 amniotic constriction ring 58 31 occasional (7.5%) Occasional (29-5%) HP:0009775
6 cleft upper lip 31 HP:0000204

Symptoms via clinical synopsis from OMIM:

56
Mouth:
cleft lip/palate

Eyes:
congenital filiform eyelid fusion

Clinical features from OMIM:

106250

Drugs & Therapeutics for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Search Clinical Trials , NIH Clinical Center for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Genetic Tests for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Anatomical Context for Ankyloblepharon Filiforme Adnatum and Cleft Palate

MalaCards organs/tissues related to Ankyloblepharon Filiforme Adnatum and Cleft Palate:

40
Eye, Bone, Skin

Publications for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Articles related to Ankyloblepharon Filiforme Adnatum and Cleft Palate:

# Title Authors PMID Year
1
Ankyloblepharon filiforme congenitum associated with harelip and cleft-palate. 56 61
5536004 1970
2
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndrome. 56
2277391 1990
3
Ankyloblepharon filiforme adnatum. 56
218608 1979
4
Ankyloblepharon filiforme adnatum affecting identical twins. 56
4473200 1974
5
Ankyloblepharon filiforme adnatum. 56
13411166 1957

Variations for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Expression for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Search GEO for disease gene expression data for Ankyloblepharon Filiforme Adnatum and Cleft Palate.

Pathways for Ankyloblepharon Filiforme Adnatum and Cleft Palate

GO Terms for Ankyloblepharon Filiforme Adnatum and Cleft Palate

Sources for Ankyloblepharon Filiforme Adnatum and Cleft Palate

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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