MCID: ANR043
MIFTS: 17

Aniridia and Absent Patella

Categories: Rare diseases, Eye diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Aniridia and Absent Patella

MalaCards integrated aliases for Aniridia and Absent Patella:

Name: Aniridia and Absent Patella 54
Familial Syndrome of Aniridia and Absence of the Patella 50
Aniridia-Absent Patella Syndrome 56
Aniridia Absent Patella 50

Characteristics:

Orphanet epidemiological data:

56
aniridia-absent patella syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
aniridia and absent patella:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 106220
Orphanet 56 ORPHA1069
UMLS via Orphanet 70 C1862868
ICD10 via Orphanet 34 Q87.8

Summaries for Aniridia and Absent Patella

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1069disease definitionaniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia (see these terms). the grandmother also had bilateral cataracts and glaucoma. there have been no further descriptions in the literature since 1975.visit the orphanet disease page for more resources. last updated: 5/5/2014

MalaCards based summary : Aniridia and Absent Patella, also known as familial syndrome of aniridia and absence of the patella, is related to aniridia, and has symptoms including ptosis, glaucoma and cryptorchidism. Affiliated tissues include eye.

Description from OMIM: 106220

Related Diseases for Aniridia and Absent Patella

Diseases related to Aniridia and Absent Patella via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 aniridia 10.0

Symptoms & Phenotypes for Aniridia and Absent Patella

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
cataracts
glaucoma
aniridia

Skeletal- Limbs:
hypoplastic patella


Clinical features from OMIM:

106220

Human phenotypes related to Aniridia and Absent Patella:

56 32 (show all 8)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
2 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
3 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
4 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
5 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
6 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
7 aniridia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000526
8 aplasia/hypoplasia of the patella 56 32 hallmark (90%) Very frequent (99-80%) HP:0006498

Drugs & Therapeutics for Aniridia and Absent Patella

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Aniridia and Absent Patella

Genetic Tests for Aniridia and Absent Patella

Anatomical Context for Aniridia and Absent Patella

MalaCards organs/tissues related to Aniridia and Absent Patella:

39
Eye

Publications for Aniridia and Absent Patella

Variations for Aniridia and Absent Patella

Expression for Aniridia and Absent Patella

Search GEO for disease gene expression data for Aniridia and Absent Patella.

Pathways for Aniridia and Absent Patella

GO Terms for Aniridia and Absent Patella

Sources for Aniridia and Absent Patella

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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