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 54
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome 54 60

Characteristics:

Orphanet epidemiological data:

60
aniridia-ptosis-intellectual disability-familial obesity syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Aniridia - Ptosis - Intellectual Disability - Familial Obesity

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1067Disease definitionAniridia - ptosis - intellectual disability - familial obesity is 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 heart and eye, and related phenotypes are ptosis and intellectual disability

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
4 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
5 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
6 aplasia/hypoplasia of the iris 60 33 hallmark (90%) Very frequent (99-80%) HP:0008053
7 persistent pupillary membrane 60 33 hallmark (90%) Very frequent (99-80%) HP:0009917
8 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
9 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
10 hypopigmentation of hair 60 33 occasional (7.5%) Occasional (29-5%) HP:0005599
11 abnormal heart morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001627

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

Interventional clinical trials:


# 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 - 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:

42
Heart, Eye

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
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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