ATS-MR
MCID: AMM001
MIFTS: 28

Amme Complex (ATS-MR)

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

Aliases & Classifications for Amme Complex

MalaCards integrated aliases for Amme Complex:

Name: Amme Complex 57 12 58 72 15
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 57 13 44 39 70
Ats-Mr 57 12 58 72
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome 12 58
Chromosome Xq22.3 Telomeric Deletion Syndrome 57 12
Amme Syndrome 12 58
Alport Syndrome with Mental Retardation, Midface Hypoplasia and Elliptocytosis 72

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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


Summaries for Amme Complex

UniProtKB/Swiss-Prot : 72 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 x-linked alport syndrome and alport syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). 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® : 57 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) (Updated 20-May-2021)

Related Diseases for Amme Complex

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



Diseases related to Amme Complex

Symptoms & Phenotypes for Amme Complex

Human phenotypes related to Amme Complex:

58 31 (show all 26)
# 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 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
12 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
13 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
14 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
15 elliptocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0004445
16 hypotonia 31 frequent (33%) HP:0001252
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 muscular hypotonia 58 Frequent (79-30%)
25 midface retrusion 31 HP:0011800
26 abnormality of the hair 58 Very frequent (99-80%)

Clinical features from OMIM®:

300194 (Updated 20-May-2021)

Drugs & Therapeutics for Amme Complex

Genetic Tests for Amme Complex

Anatomical Context for Amme Complex

Publications for Amme Complex

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). 57 61
10049589 1999
2
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? 61 57
9598718 1998
3
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). 57
12011158 2002
4
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 57
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. 57
9480748 1998
6
X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly. 57
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

Variations for Amme Complex

Expression for Amme Complex

Search GEO for disease gene expression data for Amme Complex.

Pathways for Amme Complex

GO Terms for Amme Complex

Sources for Amme Complex

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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