ATS-MR
MCID: AMM001
MIFTS: 22

Amme Complex (ATS-MR)

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Amme Complex

MalaCards integrated aliases for Amme Complex:

Name: Amme Complex 57 75 29
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 57 40 73
Ats-Mr 57 75
Alport Syndrome with Mental Retardation, Midface Hypoplasia and Elliptocytosis 75
Chromosome Xq22.3 Telomeric Deletion Syndrome 57

Classifications:



External Ids:

OMIM 57 300194
MedGen 42 C1846242
MeSH 44 D009394
UMLS 73 C1846242

Summaries for Amme Complex

UniProtKB/Swiss-Prot : 75 Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis: A 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, x-linked and alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include ovary, and related phenotypes are intellectual disability and midface retrusion

Description from OMIM: 300194

Related Diseases for Amme Complex

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 alport syndrome, x-linked 11.9
2 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 11.3
3 hepatocellular carcinoma 9.7
4 crohn's disease 9.7
5 crohn's colitis 9.7
6 adenocarcinoma 9.7
7 alzheimer disease 9.5
8 diabetes mellitus, noninsulin-dependent 9.5
9 diaphragmatic hernia, congenital 9.5
10 hypogonadotropic hypogonadism 7 with or without anosmia 9.5
11 galactorrhea 9.5
12 panencephalitis, subacute sclerosing 9.5
13 wilson disease 9.5
14 oncocytoma 9.5
15 myxoid liposarcoma 9.5
16 aortic atherosclerosis 9.5
17 diabetes mellitus 9.5
18 lymphomatoid granulomatosis 9.5
19 pancreatic ductal adenocarcinoma 9.5
20 renal oncocytoma 9.5
21 spinal stenosis 9.5
22 hypogonadotropic hypogonadism 9.5
23 castleman disease 9.5
24 tethered spinal cord syndrome 9.5
25 cerebral atherosclerosis 9.5
26 intraductal papilloma 9.5
27 hypogonadism 9.5
28 wernicke encephalopathy 9.5
29 chondromalacia 9.5
30 papilloma 9.5
31 chondroblastoma 9.5
32 synovitis 9.5
33 glioblastoma multiforme 9.5
34 gallbladder cancer 9.5
35 teratoma 9.5
36 liposarcoma 9.5
37 intracranial hypotension 9.5
38 mature teratoma 9.5
39 mature teratoma of the ovary 9.5
40 adrenal adenoma 9.5
41 adenoma 9.5
42 encephalitis 9.5
43 fasciitis 9.5
44 plantar fasciitis 9.5
45 eosinophilia-myalgia syndrome 9.5
46 congenital hepatic fibrosis 9.5
47 isolated gonadotropin-releasing hormone deficiency 9.5
48 bronchogenic cyst 9.5
49 congenital cytomegalovirus 9.5
50 glioblastoma 9.5

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



Diseases related to Amme Complex

Symptoms & Phenotypes for Amme Complex

Clinical features from OMIM:

300194

Human phenotypes related to Amme Complex:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 midface retrusion 32 HP:0011800
3 elliptocytosis 32 HP:0004445

Drugs & Therapeutics for Amme Complex

Search Clinical Trials , NIH Clinical Center for Amme Complex

Genetic Tests for Amme Complex

Genetic tests related to Amme Complex:

# Genetic test Affiliating Genes
1 Amme Complex 29

Anatomical Context for Amme Complex

MalaCards organs/tissues related to Amme Complex:

41
Ovary

Publications for Amme Complex

Articles related to Amme Complex:

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

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 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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