MCID: ALP085
MIFTS: 21

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Categories: Neuronal diseases, Fetal diseases, Blood diseases, Rare diseases, Mental diseases

Aliases & Classifications for Alport Syndrome-Intellectual Disability-Midface...

MalaCards integrated aliases for Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome:

Name: Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 59
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 73
Amme Syndrome 59
Amme Complex 59
Ats-Mr 59

Characteristics:

Orphanet epidemiological data:

59
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



Summaries for Alport Syndrome-Intellectual Disability-Midface...

MalaCards based summary : Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome, also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, is related to amme complex and alport syndrome, x-linked. An important gene associated with Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome is AMMECR1 (Alport Syndrome, Mental Retardation, Midface Hypoplasia And Elliptocytosis Chromosomal Region Gene 1). Related phenotypes are malar flattening and muscular hypotonia

Related Diseases for Alport Syndrome-Intellectual Disability-Midface...

Diseases related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amme complex 12.2
2 alport syndrome, x-linked 9.2 ACSL4 AMMECR1

Symptoms & Phenotypes for Alport Syndrome-Intellectual Disability-Midface...

Human phenotypes related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
6 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
8 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
9 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
10 abnormality of the metaphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000944
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
13 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
14 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
15 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
16 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
17 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
18 abnormality of the hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0001595
19 tapered finger 59 32 frequent (33%) Frequent (79-30%) HP:0001182
20 microscopic hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002907
21 elliptocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0004445
22 abnormality of the aortic valve 59 Occasional (29-5%)
23 abnormal aortic valve morphology 32 occasional (7.5%) HP:0001646

Drugs & Therapeutics for Alport Syndrome-Intellectual Disability-Midface...

Search Clinical Trials , NIH Clinical Center for Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Genetic Tests for Alport Syndrome-Intellectual Disability-Midface...

Anatomical Context for Alport Syndrome-Intellectual Disability-Midface...

Publications for Alport Syndrome-Intellectual Disability-Midface...

Articles related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome:

# Title Authors Year
1
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? ( 9598718 )
1998

Variations for Alport Syndrome-Intellectual Disability-Midface...

Expression for Alport Syndrome-Intellectual Disability-Midface...

Search GEO for disease gene expression data for Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome.

Pathways for Alport Syndrome-Intellectual Disability-Midface...

GO Terms for Alport Syndrome-Intellectual Disability-Midface...

Sources for Alport Syndrome-Intellectual Disability-Midface...

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
Content
Loading form....