MCID: ANK018
MIFTS: 11

Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

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

Aliases & Classifications for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

MalaCards integrated aliases for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome:

Name: Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome 58
Aughton-Hufnagle Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ankyloblepharon filiforme adnatum-imperforate anus syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA1074

Summaries for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

MalaCards based summary : Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome, is also known as aughton-hufnagle syndrome. Affiliated tissues include eye, bone and skin, and related phenotypes are cryptorchidism and ankyloblepharon

Related Diseases for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Symptoms & Phenotypes for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Human phenotypes related to Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 ankyloblepharon 58 31 hallmark (90%) Very frequent (99-80%) HP:0009755
3 reduced number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0009804
4 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
5 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335

Drugs & Therapeutics for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Search Clinical Trials , NIH Clinical Center for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Genetic Tests for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Anatomical Context for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

MalaCards organs/tissues related to Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome:

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Eye, Bone, Skin

Publications for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Variations for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Expression for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Search GEO for disease gene expression data for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome.

Pathways for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

GO Terms for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

Sources for Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome

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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