MCID: ALP085
MIFTS: 26

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Categories: Blood diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare 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 60
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 74
Amme Syndrome 60
Amme Complex 60
Ats-Mr 60

Characteristics:

Orphanet epidemiological data:

60
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 hepatocellular carcinoma. 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). Affiliated tissues include ovary and spinal cord, and related phenotypes are malar flattening and depressed nasal bridge

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:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 amme complex 12.4
2 hepatocellular carcinoma 9.7
3 multiple sclerosis 9.7
4 nasopharyngeal carcinoma 9.7
5 crohn's disease 9.7
6 crohn's colitis 9.7
7 synovitis 9.7
8 adenocarcinoma 9.7
9 alzheimer disease 9.5
10 diaphragmatic hernia, congenital 9.5
11 hypogonadotropic hypogonadism 7 with or without anosmia 9.5
12 trigeminal neuralgia 9.5
13 suppressor of tumorigenicity 3 9.5
14 galactorrhea 9.5
15 hydrocephalus, normal-pressure 9.5
16 panencephalitis, subacute sclerosing 9.5
17 phenylketonuria 9.5
18 wilson disease 9.5
19 oncocytoma 9.5
20 stroke, ischemic 9.5
21 myxoid liposarcoma 9.5
22 alport syndrome 9.5
23 aortic atherosclerosis 9.5
24 arthritis 9.5
25 diabetes mellitus 9.5
26 hemangioma 9.5
27 hydrocephalus 9.5
28 lymphomatoid granulomatosis 9.5
29 osteoarthritis 9.5
30 pancreatic ductal adenocarcinoma 9.5
31 renal oncocytoma 9.5
32 spinal stenosis 9.5
33 fibroma 9.5
34 hypogonadotropic hypogonadism 9.5
35 castleman disease 9.5
36 tethered spinal cord syndrome 9.5
37 acoustic neuroma 9.5
38 cerebral atherosclerosis 9.5
39 squamous cell papilloma 9.5
40 intraductal papilloma 9.5
41 malignant fibroxanthoma 9.5
42 hypogonadism 9.5
43 relapsing-remitting multiple sclerosis 9.5
44 wernicke encephalopathy 9.5
45 chondromalacia 9.5
46 papilloma 9.5
47 chondroblastoma 9.5
48 glioblastoma multiforme 9.5
49 gallbladder cancer 9.5
50 myelitis 9.5

Graphical network of the top 20 diseases related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome:



Diseases related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

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

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

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
3 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
4 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
5 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
6 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820
7 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
8 microscopic hematuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002907
9 abnormal hair morphology 33 hallmark (90%) HP:0001595
10 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
11 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
12 thick vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0012471
13 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
14 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
15 tapered finger 60 33 frequent (33%) Frequent (79-30%) HP:0001182
16 elliptocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0004445
17 abnormality of the metaphysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000944
18 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
19 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
20 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
21 increased number of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0011069
22 abnormal aortic valve morphology 33 occasional (7.5%) HP:0001646
23 abnormality of the aortic valve 60 Occasional (29-5%)
24 abnormality of the hair 60 Very frequent (99-80%)

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...

MalaCards organs/tissues related to Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome:

42
Ovary, Spinal Cord

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 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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