MCID: ANR042
MIFTS: 15

Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

MalaCards integrated aliases for Aniridia - Ptosis - Intellectual Disability - Familial Obesity:

Name: Aniridia - Ptosis - Intellectual Disability - Familial Obesity 52
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
aniridia-ptosis-intellectual disability-familial obesity syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1067 Definition An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis , pendular nystagmus , corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. Visit the Orphanet disease page for more resources.

MalaCards based summary : Aniridia - Ptosis - Intellectual Disability - Familial Obesity, is also known as aniridia-ptosis-intellectual disability-familial obesity syndrome. Affiliated tissues include eye and heart, and related phenotypes are intellectual disability and ptosis

Related Diseases for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Symptoms & Phenotypes for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Human phenotypes related to Aniridia - Ptosis - Intellectual Disability - Familial Obesity:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
4 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
5 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
6 aplasia/hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0008053
7 persistent pupillary membrane 58 31 hallmark (90%) Very frequent (99-80%) HP:0009917
8 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
9 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
10 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
11 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627

Drugs & Therapeutics for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Search Clinical Trials , NIH Clinical Center for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Genetic Tests for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Anatomical Context for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

MalaCards organs/tissues related to Aniridia - Ptosis - Intellectual Disability - Familial Obesity:

40
Eye, Heart

Publications for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Variations for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Expression for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Search GEO for disease gene expression data for Aniridia - Ptosis - Intellectual Disability - Familial Obesity.

Pathways for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

GO Terms for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Sources for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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