MCID: ANR042
MIFTS: 16

Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Categories: Rare diseases, Metabolic diseases, Genetic diseases, Neuronal diseases, Fetal 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 49
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome 49 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 5/5/2014

MalaCards based summary : Aniridia - Ptosis - Intellectual Disability - Familial Obesity, is also known as aniridia-ptosis-intellectual disability-familial obesity syndrome, and has symptoms including visual impairment, ptosis and cataract. Affiliated tissues include heart.

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:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 ptosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
4 myopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
7 abnormal heart morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0001627
8 hypopigmentation of hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0005599
9 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
10 aplasia/hypoplasia of the iris 55 31 hallmark (90%) Very frequent (99-80%) HP:0008053
11 persistent pupillary membrane 55 31 hallmark (90%) Very frequent (99-80%) HP:0009917

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:

38
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

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10 dbSNP
11 DGIdb
16 ExPASy
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27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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42 MESH via Orphanet
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50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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