MCID: ANR043
MIFTS: 20

Aniridia and Absent Patella

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

Aliases & Classifications for Aniridia and Absent Patella

MalaCards integrated aliases for Aniridia and Absent Patella:

Name: Aniridia and Absent Patella 53
Aniridia Absent Patella 72 49
Familial Syndrome of Aniridia and Absence of the Patella 49
Aniridia-Absent Patella Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
aniridia-absent patella syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
aniridia and absent patella:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 106220
Orphanet 55 ORPHA1069
UMLS via Orphanet 70 C1862868
ICD10 via Orphanet 33 Q87.8
MedGen 39 C1862868

Summaries for Aniridia and Absent Patella

NIH Rare Diseases : 49 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 aniridia absent patella, is related to aniridia 1, and has symptoms including ptosis, muscular hypotonia and inguinal hernia. Affiliated tissues include eye and kidney.

Wikipedia : 72 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

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:

# Related Disease Score Top Affiliating Genes
1 aniridia 1 10.0

Symptoms & Phenotypes for Aniridia and Absent Patella

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
glaucoma
aniridia
cataracts

Skeletal Limbs:
hypoplastic patella


Clinical features from OMIM:

106220

Human phenotypes related to Aniridia and Absent Patella:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
2 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
3 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
4 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
5 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
6 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
7 aplasia/hypoplasia of the patella 55 31 hallmark (90%) Very frequent (99-80%) HP:0006498
8 aniridia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000526

Drugs & Therapeutics for Aniridia and Absent Patella

Search Clinical Trials , 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:

38
Eye, Kidney

Publications for Aniridia and Absent Patella

Articles related to Aniridia and Absent Patella:

# Title Authors Year
1
A familial syndrome of aniridia and absence of the patella. ( 1218204 )
1975

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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