MCID: ANR043
MIFTS: 19

Aniridia and Absent Patella

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

Aliases & Classifications for Aniridia and Absent Patella

MalaCards integrated aliases for Aniridia and Absent Patella:

Name: Aniridia and Absent Patella 58
Aniridia Absent Patella 77 54
Familial Syndrome of Aniridia and Absence of the Patella 54
Aniridia-Absent Patella Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
aniridia-absent patella syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
aniridia and absent patella:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 106220
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1862868
Orphanet 60 ORPHA1069
MedGen 43 C1862868

Summaries for Aniridia and Absent Patella

NIH Rare Diseases : 54 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.

MalaCards based summary : Aniridia and Absent Patella, is also known as aniridia absent patella. Affiliated tissues include eye and kidney, and related phenotypes are aplasia/hypoplasia of the patella and aniridia

Wikipedia : 77 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

Symptoms & Phenotypes for Aniridia and Absent Patella

Human phenotypes related to Aniridia and Absent Patella:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aplasia/hypoplasia of the patella 60 33 hallmark (90%) Very frequent (99-80%) HP:0006498
2 aniridia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000526
3 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
4 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
5 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
6 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
7 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
8 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
glaucoma
aniridia
cataracts

Skeletal Limbs:
hypoplastic patella

Clinical features from OMIM:

106220

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:

42
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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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