MCID: ANK018
MIFTS: 10

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 59
Aughton-Hufnagle Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ankyloblepharon filiforme adnatum-imperforate anus syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
Orphanet 59 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 skin, bone and eye, 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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 ankyloblepharon 59 32 hallmark (90%) Very frequent (99-80%) HP:0009755
3 reduced number of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0009804
4 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
5 non-midline cleft lip 59 32 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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Skin, Bone, Eye

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 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
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51 NDF-RT
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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