Amme Complex disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ATS-MR MCID: AMM001 MIFTS: 28	Amme Complex (ATS-MR) Categories: Blood diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Blood diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

Rare haematological diseases

External Ids:

Disease Ontology ¹² DOID:0111860

OMIM® ⁵⁷ 300194

MeSH ⁴⁴ C564570 D009394

SNOMED-CT ⁶⁷ 720982007

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷¹ C1846242

Orphanet ⁵⁸ ORPHA86818

MedGen ⁴¹ C1846242

UMLS ⁷⁰ C1846242

Sources

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)

Sources

Related Diseases for Amme Complex

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

#	Related Disease	Score	Top Affiliating Genes
1	x-linked alport syndrome	30.5	TMEM164 SNORD96B MIR3978 COL4A5
2	alport syndrome	30.1	TMEM164 SNORD96B KCNE5 COL4A5 AMMECR1 AMMEC
3	hereditary elliptocytosis	30.0	COL4A5 BLOC1S1 ACSL4
4	midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	11.1
5	usher syndrome, type ig	10.0	USH1G KCNE5
6	digenic disease	9.8	USH1G COL4A5
7	sensorineural hearing loss	9.6	USH1G KCNE5 COL4A5 AMMECR1 ACSL4
8	non-syndromic x-linked intellectual disability	9.4	TMEM164 SNORD96B RTL9 NXT2 MIR3978 KCNE5

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

Sources

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)

Sources

Drugs & Therapeutics for Amme Complex

Search Clinical Trials , NIH Clinical Center for Amme Complex

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

Sources

Genetic Tests for Amme Complex

Sources

Anatomical Context for Amme Complex

Sources

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	Vitelli F...Renieri A	10049589	1999
2	Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? ⁶¹ ⁵⁷	Jonsson JJ...Pober BR	9598718	1998
3	Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). ⁵⁷	Meloni I...Renieri A	12011158	2002
4	FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. ⁵⁷	Meloni I...Renieri A	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	Piccini M...Renieri A	9480748	1998
6	X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly. ⁵⁷	Lane W...Leung AK	7923864	1994
7	AMMECR1 Inhibits Apoptosis and Promotes Cell-cycle Progression and Proliferation of the A549 Human Lung Cancer Cell Line. ⁶¹	Ge H...Zhu J	31519561	2019
8	X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. ⁶¹	Basel-Vanagaite L...Shomron N	28089922	2017
9	Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. ⁶¹	Gazou A...Tzschach A	23520119	2013

Sources

Genes for Amme Complex

Genes related to Amme Complex (4 elite genes):

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AMMEC	Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis	Genetic Locus	500	Structural variation ⁵⁷
2	AMMECR1	AMMECR Nuclear Protein 1	Protein Coding	391.42	Causative germline mutation ⁵⁸ Role in the phenotype ⁵⁸ DISEASES inferred ¹⁵ GeneCards inferred via : Summaries (show sections)	27811305 10049589
3	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	32.03	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁵
4	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	31.99	Role in the phenotype ⁵⁸ DISEASES inferred ¹⁵	9598718
5	BLOC1S1	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1	Protein Coding	9.2	DISEASES inferred ¹⁵ ¹⁵
6	SNORD96B	Small Nucleolar RNA, C/D Box 96B	RNA Gene	8.36	DISEASES inferred ¹⁵
7	TMEM164	Transmembrane Protein 164	Protein Coding	8.03	DISEASES inferred ¹⁵
8	PRODH	Proline Dehydrogenase 1	Protein Coding	7.52	DISEASES inferred ¹⁵ ¹⁵
9	MIR3978	MicroRNA 3978	RNA Gene	7.37	DISEASES inferred ¹⁵
10	KLHDC1	Kelch Domain Containing 1	Protein Coding	7.19	DISEASES inferred ¹⁵
11	RTL9	Retrotransposon Gag Like 9	Protein Coding	7.17	DISEASES inferred ¹⁵
12	NXT2	Nuclear Transport Factor 2 Like Export Factor 2	Protein Coding	6.76	DISEASES inferred ¹⁵
13	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	6.43	DISEASES inferred ¹⁵
14	ISL2	ISL LIM Homeobox 2	Protein Coding	6.36	DISEASES inferred ¹⁵
15	IMPG2	Interphotoreceptor Matrix Proteoglycan 2	Protein Coding	6.24	DISEASES inferred ¹⁵
16	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	5.95	DISEASES inferred ¹⁵
17	ZNF195	Zinc Finger Protein 195	Protein Coding	5.8	DISEASES inferred ¹⁵
18	ZACN	Zinc Activated Ion Channel	Protein Coding	5.67	DISEASES inferred ¹⁵
19	USH1G	USH1 Protein Network Component Sans	Protein Coding	5.66	DISEASES inferred ¹⁵
20	NKX2-3	NK2 Homeobox 3	Protein Coding	5.66	DISEASES inferred ¹⁵
21	TIMM8A	Translocase Of Inner Mitochondrial Membrane 8A	Protein Coding	5.57	DISEASES inferred ¹⁵
22	BLOC1S5	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 5	Protein Coding	5.34	DISEASES inferred ¹⁵
23	STX10	Syntaxin 10	Protein Coding	5.32	DISEASES inferred ¹⁵

Sources

Variations for Amme Complex

Sources

Expression for Amme Complex

Search GEO for disease gene expression data for Amme Complex.

Sources

Pathways for Amme Complex

Sources

GO Terms for Amme Complex

Sources

Sources for Amme Complex

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Amme Complex (ATS-MR)

Aliases & Classifications for Amme Complex

MalaCards integrated aliases for Amme Complex:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Amme Complex

Related Diseases for Amme Complex

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

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

Symptoms & Phenotypes for Amme Complex

Human phenotypes related to Amme Complex:

Clinical features from OMIM®:

Drugs & Therapeutics for Amme Complex

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

Genetic Tests for Amme Complex

Anatomical Context for Amme Complex

Publications for Amme Complex

Articles related to Amme Complex:

Genes for Amme Complex

Genes related to Amme Complex (4 elite genes):

Variations for Amme Complex

Expression for Amme Complex

Pathways for Amme Complex

GO Terms for Amme Complex

Sources for Amme Complex