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ATS-MR
MCID: AMM001
MIFTS: 31

Amme Complex (ATS-MR)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Amme Complex

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MalaCards integrated aliases for Amme Complex:

Name: Amme Complex 56 12 58 73
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 56 13 43 39 71
Ats-Mr 56 12 58 73
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 12 58
Chromosome Xq22.3 Telomeric Deletion Syndrome 56 12
Amme Syndrome 12 58
Alport Syndrome with Mental Retardation, Midface Hypoplasia and Elliptocytosis 73

Characteristics:

Orphanet epidemiological data:

58
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

31
amme complex:
Inheritance contiguous gene syndrome


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Blood diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


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Summaries for Amme Complex

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UniProtKB/Swiss-Prot : 73 Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis: An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.

MalaCards based summary : Amme Complex, also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, is related to alport syndrome and midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include lung, and related phenotypes are depressed nasal bridge and anteverted nares

Disease Ontology : 12 A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has material basis in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.

OMIM : 56 The AMME complex is an X-linked contiguous gene deletion syndrome with features of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis in affected males (summary by Meloni et al., 2002). (300194)

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Related Diseases for Amme Complex

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Diseases related to Amme Complex via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 alport syndrome 28.6 KCNE5 AMMECR1 AMMEC ACSL4
2 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 11.4
3 x-linked alport syndrome 10.5
4 hereditary elliptocytosis 10.1
5 hemangioma 10.0
6 osteoarthritis 10.0
7 sarcoidosis 1 9.9
8 tendinitis 9.9
9 acrocallosal syndrome 9.8
10 adenocarcinoma 9.8
11 liver disease 9.8
12 liver cirrhosis 9.8
13 atherosclerosis susceptibility 9.8
14 breast cancer 9.8
15 nasopharyngeal carcinoma 9.8
16 tendinopathy 9.8
17 liposarcoma 9.8
18 acquired immunodeficiency syndrome 9.8
19 adenoma 9.8
20 amyotrophic lateral sclerosis 1 9.7
21 diaphragmatic hernia, congenital 9.7
22 myeloma, multiple 9.7
23 human immunodeficiency virus type 1 9.7
24 lymphoma 9.7
25 crohn's colitis 9.7
26 plica syndrome 9.7
27 leiomyoma 9.7
28 rectum cancer 9.7
29 lateral sclerosis 9.7
30 relapsing-remitting multiple sclerosis 9.7
31 synovitis 9.7
32 glioblastoma multiforme 9.7
33 gallbladder cancer 9.7
34 neurilemmoma 9.7
35 myelitis 9.7
36 bile duct cancer 9.7
37 adrenal adenoma 9.7
38 cerebrovascular disease 9.7
39 spinal stenosis 9.7
40 crohn's disease 9.7
41 fatty liver disease 9.7
42 aneurysm 9.7
43 encephalopathy 9.7
44 alzheimer disease 9.5
45 atrial standstill 1 9.5
46 hepatocellular carcinoma 9.5
47 fibrosis of extraocular muscles, congenital, 1 9.5
48 renal cell carcinoma, nonpapillary 9.5
49 hypogonadotropic hypogonadism 7 with or without anosmia 9.5
50 lipomatosis, multiple 9.5

Graphical network of the top 20 diseases related to Amme Complex:



Diseases related to Amme Complex
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Symptoms & Phenotypes for Amme Complex

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Human phenotypes related to Amme Complex:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
3 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
6 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
7 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
8 microscopic hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002907
9 abnormal hair morphology 31 hallmark (90%) HP:0001595
10 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
11 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
12 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
13 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
14 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
15 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
16 elliptocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004445
17 abnormality of the metaphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000944
18 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 abnormal aortic valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001646
20 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
21 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
22 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
23 intellectual disability 31 HP:0001249
24 midface retrusion 31 HP:0011800
25 abnormality of the hair 58 Very frequent (99-80%)

Clinical features from OMIM:

300194
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Drugs & Therapeutics for Amme Complex

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Search Clinical Trials , NIH Clinical Center for Amme Complex

Cochrane evidence based reviews: alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

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Genetic Tests for Amme Complex

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Anatomical Context for Amme Complex

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MalaCards organs/tissues related to Amme Complex:

40
Lung
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Publications for Amme Complex

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Articles related to Amme Complex:

# Title Authors PMID Year
1
Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). 61 56
10049589 1999
2
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? 61 56
9598718 1998
3
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). 56
12011158 2002
4
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 56
11889465 2002
5
FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. 56
9480748 1998
6
X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly. 56
7923864 1994
7
AMMECR1 Inhibits Apoptosis and Promotes Cell-cycle Progression and Proliferation of the A549 Human Lung Cancer Cell Line. 61
31519561 2019
8
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. 61
28089922 2017
9
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 61
23520119 2013
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Variations for Amme Complex

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Expression for Amme Complex

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Search GEO for disease gene expression data for Amme Complex.
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Pathways for Amme Complex

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GO Terms for Amme Complex

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Sources for Amme Complex

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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