MCID: ANR042
MIFTS: 16

Aniridia - Ptosis - Intellectual Disability - Familial Obesity

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Genetic diseases, Metabolic 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 53
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 related phenotypes are visual impairment 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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 myopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000545
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
7 abnormal heart morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001627
8 hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0005599
9 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
10 aplasia/hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0008053
11 persistent pupillary membrane 59 32 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:

41
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 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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