AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 GeneticVariation disease UNIPROT X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. 28089922 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 GeneticVariation disease UNIPROT AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 Biomarker disease GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 Biomarker disease CTD_human
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 CausalMutation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.400 CausalMutation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype HPO
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 Biomarker disease BEFREE In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. 30737907 2019
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 GermlineCausalMutation disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 ChromosomalRearrangement disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 GeneticVariation disease BEFREE AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). 28089922 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 Biomarker disease BEFREE Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 10828604 2000
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 ChromosomalRearrangement disease ORPHANET 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). 10049589 1999
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.130 Biomarker disease BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.130 Biomarker disease BEFREE Our results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis. 29193635 2018
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.130 GeneticVariation disease BEFREE Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. 28089922 2017
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.130 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. 30737907 2019