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 58 76 30
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 58 13 41 74
Ats-Mr 58 76
Alport Syndrome with Mental Retardation, Midface Hypoplasia and Elliptocytosis 76
Chromosome Xq22.3 Telomeric Deletion Syndrome 58

Characteristics:

HPO:

33
amme complex:
Inheritance contiguous gene syndrome


Classifications:



External Ids:

OMIM 58 300194
MeSH 45 D009394
MedGen 43 C1846242
UMLS 74 C1846242

Summaries for Amme Complex

UniProtKB/Swiss-Prot : 76 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-intellectual disability-midface hypoplasia-elliptocytosis syndrome and alport syndrome. An important gene associated with Amme Complex is AMMEC (Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis). Affiliated tissues include ovary and spinal cord, 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 78)
# Related Disease Score Top Affiliating Genes
1 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 11.3
2 alport syndrome 10.5
3 hepatocellular carcinoma 9.7
4 multiple sclerosis 9.7
5 nasopharyngeal carcinoma 9.7
6 crohn's disease 9.7
7 crohn's colitis 9.7
8 synovitis 9.7
9 adenocarcinoma 9.7
10 alzheimer disease 9.5
11 diaphragmatic hernia, congenital 9.5
12 hypogonadotropic hypogonadism 7 with or without anosmia 9.5
13 trigeminal neuralgia 9.5
14 suppressor of tumorigenicity 3 9.5
15 galactorrhea 9.5
16 hydrocephalus, normal-pressure 9.5
17 panencephalitis, subacute sclerosing 9.5
18 phenylketonuria 9.5
19 wilson disease 9.5
20 oncocytoma 9.5
21 stroke, ischemic 9.5
22 myxoid liposarcoma 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 Amme Complex:



Diseases related to Amme Complex

Symptoms & Phenotypes for Amme Complex

Human phenotypes related to Amme Complex:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 midface retrusion 33 HP:0011800
3 elliptocytosis 33 HP:0004445

Clinical features from OMIM:

300194

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 30

Anatomical Context for Amme Complex

MalaCards organs/tissues related to Amme Complex:

42
Ovary, Spinal Cord

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 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
Content
Loading form....