MCID: ANR043
MIFTS: 19

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 57
Aniridia Absent Patella 76 53
Familial Syndrome of Aniridia and Absence of the Patella 53
Aniridia-Absent Patella Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
aniridia-absent patella syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
aniridia and absent patella:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 106220
Orphanet 59 ORPHA1069
UMLS via Orphanet 74 C1862868
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1862868

Summaries for Aniridia and Absent Patella

NIH Rare Diseases : 53 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 inguinal hernia and cryptorchidism

Wikipedia : 76 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
glaucoma
aniridia
cataracts

Skeletal Limbs:
hypoplastic patella


Clinical features from OMIM:

106220

Human phenotypes related to Aniridia and Absent Patella:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
2 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
3 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
4 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 aniridia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000526
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
8 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498

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:

41
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 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
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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