MCID: ALC028
MIFTS: 53

Alacrima, Achalasia, and Mental Retardation Syndrome

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Alacrima, Achalasia, and Mental Retardation Syndrome

MalaCards integrated aliases for Alacrima, Achalasia, and Mental Retardation Syndrome:

Name: Alacrima, Achalasia, and Mental Retardation Syndrome 57 75 29 6 40 73
Intellectual Disability 44 40 73
Aamr 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

32
alacrima, achalasia, and mental retardation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alacrima, Achalasia, and Mental Retardation Syndrome

OMIM : 57 Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (231550), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013). See also 300858 for a phenotypically similar disorder that shows X-linked inheritance. (615510)

MalaCards based summary : Alacrima, Achalasia, and Mental Retardation Syndrome, also known as intellectual disability, is related to chromosome 16p13.3 deletion syndrome, proximal and ohdo syndrome, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Alacrima, Achalasia, and Mental Retardation Syndrome is GMPPA (GDP-Mannose Pyrophosphorylase A), and among its related pathways/superpathways is Thyroid hormone signaling pathway. Affiliated tissues include brain, testes and heart, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 Alacrima, achalasia, and mental retardation syndrome: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

Related Diseases for Alacrima, Achalasia, and Mental Retardation Syndrome

Diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1075)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 32.9 KAT6A MECP2 VPS13B
2 ohdo syndrome 32.9 MED12 MED13L
3 med23 32.7 MED12 MED13L
4 opitz-kaveggia syndrome 31.5 MED12 MED13L
5 alpha thalassemia-x-linked intellectual disability syndrome 12.3
6 syndromic intellectual disability 12.3
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.2
8 syndromic x-linked intellectual disability snyder type 12.2
9 non-syndromic x-linked intellectual disability 12.2
10 non-syndromic intellectual disability 12.2
11 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.2
12 developmental delay, intellectual disability, obesity, and dysmorphic features 12.2
13 blepharophimosis intellectual disability syndromes 12.2
14 muscular dystrophy, congenital, with cataracts and intellectual disability 12.1
15 hivep2-related intellectual disability 12.1
16 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.1
17 aniridia - ptosis - intellectual disability - familial obesity 12.1
18 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.1
19 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.1
20 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.1
21 severe intellectual disability-progressive spastic diplegia syndrome 12.1
22 syngap1-related non-syndromic intellectual disability 12.1
23 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.1
24 x-linked intellectual disability, siderius type 12.1
25 autosomal dominant non-syndromic intellectual disability 12.1
26 autosomal recessive non-syndromic intellectual disability 12.1
27 syndromic x-linked intellectual disability 7 12.1
28 intellectual disability-developmental delay-contractures syndrome 12.1
29 syndromic x-linked intellectual disability 12 12.1
30 syndromic x-linked intellectual disability type 10 12.1
31 aortic arch anomaly - peculiar facies - intellectual disability 12.1
32 arachnodactyly - intellectual disability - dysmorphism 12.1
33 syndromic x-linked intellectual disability siderius type 12.1
34 syndromic x-linked intellectual disability nascimento type 12.1
35 mbd25-related intellectual disability 12.1
36 cask-related intellectual disability 12.1
37 syngap1-related intellectual disability 12.1
38 syndromic x-linked intellectual disability 12.1
39 ppp2r5d-related intellectual disability 12.1
40 syndromic x-linked intellectual disability cabezas type 12.1
41 syndromic x-linked intellectual disability shashi type 12.1
42 x-linked intellectual disability, najm type 12.1
43 syndromic x-linked intellectual disability abidi type 12.0
44 syndromic x-linked intellectual disability 14 12.0
45 syndromic x-linked intellectual disability raymond type 12.0
46 autosomal recessive intellectual disability 58 12.0
47 bain type of x-linked syndromic intellectual disability 12.0
48 intellectual disability-spasticity-ectrodactyly syndrome 12.0
49 megalocornea-intellectual disability syndrome 12.0
50 syndromic x-linked intellectual disability turner type 12.0

Graphical network of the top 20 diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome:



Diseases related to Alacrima, Achalasia, and Mental Retardation Syndrome

Symptoms & Phenotypes for Alacrima, Achalasia, and Mental Retardation Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
autonomic dysfunction
delayed psychomotor development
gait abnormalities (in some patients)

Head And Neck Eyes:
alacrima
nystagmus (in some patients)
strabismus (in some patients)
visual problems (in some patients)
anisocoria (in some patients)

Muscle Soft Tissue:
hypotonia (in some patients)

Cardiovascular Vascular:
postural hypotension (in some patients)

Voice:
nasal voice (in some patients)

Laboratory Abnormalities:
normal serum transferrin profiles

Abdomen Gastrointestinal:
dysphagia
feeding difficulties
achalasia

Head And Neck Ears:
hearing impairment (in some patients)

Skin Nails Hair Skin:
hypohidrosis (in some patients)
hyperkeratosis (in some patients)

Neurologic Peripheral Nervous System:
sensory impairment (in some patients)

Endocrine Features:
no adrenal insufficiency


Clinical features from OMIM:

615510

Human phenotypes related to Alacrima, Achalasia, and Mental Retardation Syndrome:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 intellectual disability 32 HP:0001249
3 gait disturbance 32 occasional (7.5%) HP:0001288
4 dysphagia 32 HP:0002015
5 dysautonomia 32 HP:0002459
6 hearing impairment 32 occasional (7.5%) HP:0000365
7 global developmental delay 32 HP:0001263
8 hyperkeratosis 32 occasional (7.5%) HP:0000962
9 feeding difficulties 32 HP:0011968
10 strabismus 32 occasional (7.5%) HP:0000486
11 hypohidrosis 32 occasional (7.5%) HP:0000966
12 achalasia 32 HP:0002571
13 nasal speech 32 occasional (7.5%) HP:0001611
14 alacrima 32 HP:0000522
15 orthostatic hypotension 32 occasional (7.5%) HP:0001278
16 generalized hypotonia 32 occasional (7.5%) HP:0001290
17 sensory impairment 32 occasional (7.5%) HP:0003474
18 anisocoria 32 occasional (7.5%) HP:0009916

UMLS symptoms related to Alacrima, Achalasia, and Mental Retardation Syndrome:


lethargy, neurobehavioral manifestations

GenomeRNAi Phenotypes related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 9.1 CAMK2B KAT6A MECP2 MED12 TCF4 VPS13B

MGI Mouse Phenotypes related to Alacrima, Achalasia, and Mental Retardation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 CAMK2B EBF3 KAT6A MECP2 MED12 MPP4

Drugs & Therapeutics for Alacrima, Achalasia, and Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Alacrima, Achalasia, and Mental Retardation Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: intellectual disability

Genetic Tests for Alacrima, Achalasia, and Mental Retardation Syndrome

Genetic tests related to Alacrima, Achalasia, and Mental Retardation Syndrome:

# Genetic test Affiliating Genes
1 Alacrima, Achalasia, and Mental Retardation Syndrome 29 GMPPA

Anatomical Context for Alacrima, Achalasia, and Mental Retardation Syndrome

MalaCards organs/tissues related to Alacrima, Achalasia, and Mental Retardation Syndrome:

41
Brain, Testes, Heart, Breast, Bone, Eye, Thyroid

Publications for Alacrima, Achalasia, and Mental Retardation Syndrome

Articles related to Alacrima, Achalasia, and Mental Retardation Syndrome:

(show top 50) (show all 1304)
# Title Authors Year
1
Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability. ( 29209992 )
2018
2
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. ( 29130599 )
2018
3
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. ( 29475819 )
2018
4
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820 )
2018
5
GnRH Antagonist and Antipsychotic Medication for Pedophilia Comorbid with Schizophrenia and Intellectual Disability. ( 29938360 )
2018
6
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
7
Biallelic variants in KIF14 cause intellectual disability with microcephaly. ( 29343805 )
2018
8
Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia. ( 29744388 )
2018
9
Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? ( 29881807 )
2018
10
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105 )
2018
11
Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome. ( 29413426 )
2018
12
A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome. ( 29191496 )
2018
13
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. ( 29437235 )
2018
14
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. ( 28778788 )
2018
15
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. ( 29350304 )
2018
16
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus. ( 29907796 )
2018
17
Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. ( 29884796 )
2018
18
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747 )
2018
19
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy. ( 29781262 )
2018
20
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390 )
2018
21
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. ( 29374277 )
2018
22
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. ( 29728705 )
2018
23
Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study. ( 29431619 )
2018
24
A new therapy prevents intellectual disability in mouse with phenylketonuria. ( 29661557 )
2018
25
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. ( 29510240 )
2018
26
A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. ( 29437797 )
2018
27
Three Mutations in the Bilateral Frontoparietal Polymicrogyria Gene <i>GPR56</i> in Pakistani Intellectual Disability Families. ( 29707406 )
2018
28
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. ( 29066376 )
2018
29
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
30
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787 )
2018
31
Effects of music on seizure frequency in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy. ( 28953798 )
2017
32
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747 )
2017
33
New intellectual disability syndrome identified: WDR26 haploinsufficiency is rare but could provide explanations to some patients. ( 28921851 )
2017
34
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay. ( 28837161 )
2017
35
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. ( 28236339 )
2017
36
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
37
A cluster randomised control trial of a multi-component weight management programme for adults with intellectual disabilities and obesity. ( 28831953 )
2017
38
An application of Bandura's 'Four Sources of Self-Efficacy' to the self-management of type 2 diabetes in people with intellectual disability: An inductive and deductive thematic analysis. ( 28918307 )
2017
39
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity. ( 28735298 )
2017
40
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607 )
2017
41
10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. ( 28211987 )
2017
42
Loss of Function of KCNC1 is associated with intellectual disability without seizures. ( 28145425 )
2017
43
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. ( 27862890 )
2017
44
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. ( 28323383 )
2017
45
Identification and characterization of a missense mutation in the O-linked I^-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability. ( 28302723 )
2017
46
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. ( 29198722 )
2017
47
Intellectual Disability and Being Human: A Care Ethics Model Rogers Chrissie Intellectual Disability and Being Human: A Care Ethics Model 174pp AL95 Routledge 9780415664585 0415664586 [Formula: see text]. ( 28075310 )
2017
48
The experience of adult children of mothers with intellectual disability: A qualitative retrospective study from Poland. ( 28070932 )
2017
49
TBCK-related intellectual disability syndrome: Case study of two patients. ( 27748029 )
2017
50
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ( 28863211 )
2017

Variations for Alacrima, Achalasia, and Mental Retardation Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Alacrima, Achalasia, and Mental Retardation Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 GMPPA p.Gly182Asp VAR_070203 rs397518462
2 GMPPA p.Thr334Met VAR_070204 rs774778439
3 GMPPA p.Thr334Pro VAR_070205 rs397518461
4 GMPPA p.Arg390Pro VAR_070206
5 GMPPA p.Asn401Thr VAR_070207

ClinVar genetic disease variations for Alacrima, Achalasia, and Mental Retardation Syndrome:

6
(show top 50) (show all 687)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
2 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh38 Chromosome X, 120544179: 120544179
3 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
4 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh38 Chromosome X, 71127367: 71127367
5 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh37 Chromosome X, 73749067: 73749067
6 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh38 Chromosome X, 74529232: 74529232
7 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
8 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh38 Chromosome X, 77717155: 77717155
9 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
10 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
11 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh38 Chromosome X, 154031409: 154031409
12 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
13 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh38 Chromosome X, 154030912: 154030912
14 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh38 Chromosome X, 154031326: 154031326
15 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
16 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
17 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
18 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic rs386834070 GRCh38 Chromosome 8, 99134644: 99134644
19 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
20 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh38 Chromosome 12, 8939418: 8939418
21 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh37 Chromosome X, 153230153: 153230153
22 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh38 Chromosome X, 153964702: 153964702
23 GMPPA NM_013335.3(GMPPA): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs397518460 GRCh37 Chromosome 2, 220366625: 220366625
24 GMPPA NM_013335.3(GMPPA): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs397518460 GRCh38 Chromosome 2, 219501903: 219501903
25 GMPPA NM_013335.3(GMPPA): c.1000A> C (p.Thr334Pro) single nucleotide variant Pathogenic rs397518461 GRCh37 Chromosome 2, 220370982: 220370982
26 GMPPA NM_013335.3(GMPPA): c.1000A> C (p.Thr334Pro) single nucleotide variant Pathogenic rs397518461 GRCh38 Chromosome 2, 219506260: 219506260
27 GMPPA NM_013335.3(GMPPA): c.545G> A (p.Gly182Asp) single nucleotide variant Pathogenic rs397518462 GRCh37 Chromosome 2, 220368860: 220368860
28 GMPPA NM_013335.3(GMPPA): c.545G> A (p.Gly182Asp) single nucleotide variant Pathogenic rs397518462 GRCh38 Chromosome 2, 219504138: 219504138
29 GMPPA NM_013335.3(GMPPA): c.210delA (p.Ala71Profs) deletion Pathogenic rs886037654 GRCh37 Chromosome 2, 220366269: 220366269
30 GMPPA NM_013335.3(GMPPA): c.210delA (p.Ala71Profs) deletion Pathogenic rs886037654 GRCh38 Chromosome 2, 219501547: 219501547
31 GMPPA GMPPA, TRP214TER single nucleotide variant Pathogenic
32 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
33 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh38 Chromosome 18, 55350391: 55350394
34 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh37 Chromosome 1, 27876253: 27876254
35 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh38 Chromosome 1, 27549742: 27549743
36 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh37 Chromosome 1, 27875729: 27875729
37 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh38 Chromosome 1, 27549218: 27549218
38 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh37 Chromosome 1, 27876080: 27876080
39 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh38 Chromosome 1, 27549569: 27549569
40 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
41 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh37 Chromosome 5, 139494578: 139494580
42 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh38 Chromosome 5, 140114488: 140114489
43 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh37 Chromosome 5, 139494073: 139494074
44 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
45 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh37 Chromosome 5, 139494322: 139494322
46 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
47 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh37 Chromosome 5, 139494055: 139494055
48 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Likely pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
49 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Likely pathogenic rs587782995 GRCh38 Chromosome 5, 140114480: 140114480
50 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544

Copy number variations for Alacrima, Achalasia, and Mental Retardation Syndrome from CNVD:

7 (show top 50) (show all 230)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 14809 1 110328830 110367887 Amplification AHCYL1 Intellectual disability
2 18404 1 145479805 145564639 Amplification BCL9 Intellectual disability
3 20790 1 154318992 154376502 Deletion LMNA Intellectual disability
4 25568 1 191357783 191487679 Deletion CDC73 Intellectual disability
5 26008 1 195504030 195714208 Amplification CRB1 Intellectual disability
6 26062 1 196392816 196555392 Deletion NEK7 Intellectual disability
7 27599 1 21005560 21375927 Deletion EIF4G3 Intellectual disability
8 29199 1 228844880 228896351 Amplification COG2 Intellectual disability
9 29770 1 235537560 237086860 Deletion Intellectual disability
10 33809 1 48460990 48486903 Deletion SLC5A9 Intellectual disability
11 34281 1 54291861 54350780 Deletion C1orf83 Intellectual disability
12 35404 1 63278601 174979260 Duplication Intellectual disability
13 35871 1 68336738 68470841 Amplification GPR177 Intellectual disability
14 36503 1 76466419 77200494 Duplication Intellectual disability
15 37402 1 90483825 90786224 Duplication Intellectual disability
16 38249 10 100208866 100985609 Amplification HPSE2 Intellectual disability
17 39670 10 118177413 118227458 Amplification PNLIPRP3 Intellectual disability
18 40487 10 128662416 129042087 Deletion Intellectual disability
19 41143 10 13725711 14412872 Deletion FRMD4A Intellectual disability
20 42897 10 42100000 46100000 Deletion ZNF487 Intellectual disability
21 43203 10 45480000 51585000 Deletion Intellectual disability
22 43209 10 45512000 51585000 Deletion Intellectual disability
23 43225 10 45612000 51585000 Deletion Intellectual disability
24 43250 10 45927753 51581847 Deletion Intellectual disability
25 43254 10 45947671 51263703 Deletion Intellectual disability
26 43263 10 45979000 56907000 Deletion Intellectual disability
27 43292 10 46100000 53300000 Deletion Intellectual disability
28 43382 10 46384979 51265056 Deletion Intellectual disability
29 43389 10 46384979 52085077 Deletion Intellectual disability
30 43411 10 46400346 51237832 Deletion Intellectual disability
31 43734 10 48871525 50765047 Deletion Intellectual disability
32 43745 10 48941000 52218000 Deletion Intellectual disability
33 43760 10 49062854 52062367 Deletion Intellectual disability
34 43770 10 49121974 50641724 Deletion Intellectual disability
35 43868 10 50239677 50581445 Duplication Intellectual disability
36 43876 10 50334496 50417153 Deletion ERCC6 Intellectual disability
37 49425 11 106880543 106941637 Amplification ALKBH8 Intellectual disability
38 49436 11 106967286 107042715 Amplification ELMOD1 Intellectual disability
39 51015 11 121813520 134447248 Deletion Intellectual disability
40 51445 11 12633728 121813520 Deletion Intellectual disability
41 51830 11 131586860 131711926 Amplification HNT Intellectual disability
42 52967 11 22232079 25091772 Deletion Intellectual disability
43 55056 11 48800000 51400000 Duplication Intellectual disability
44 58769 11 6934067 9220605 Duplication ZNF214 Intellectual disability
45 59763 11 77603989 77806414 Amplification GAB2 Intellectual disability
46 61307 11 98397080 99732683 Amplification CNTN5 Intellectual disability
47 66448 12 29384845 29425410 Amplification ERGIC2 Intellectual disability
48 66460 12 29545023 29828959 Amplification TMTC1 Intellectual disability
49 66846 12 33200000 35400000 Duplication Intellectual disability
50 71529 12 7138290 7153069 Deletion C1RL Intellectual disability

Expression for Alacrima, Achalasia, and Mental Retardation Syndrome

Search GEO for disease gene expression data for Alacrima, Achalasia, and Mental Retardation Syndrome.

Pathways for Alacrima, Achalasia, and Mental Retardation Syndrome

Pathways related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.99 MED12 MED13L SLC16A2 SLC2A1

GO Terms for Alacrima, Achalasia, and Mental Retardation Syndrome

Biological processes related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.85 EBF3 KAT6A KDM5C MECP2 MED12 MED13L
2 transcription, DNA-templated GO:0006351 9.65 EBF3 KAT6A KDM5C MECP2 MED12 MED13L
3 positive regulation of transcription, DNA-templated GO:0045893 9.17 EBF3 KAT6A MECP2 MED12 PHF8 RAI1

Molecular functions related to Alacrima, Achalasia, and Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone demethylase activity GO:0032452 8.96 KDM5C PHF8
2 transcription factor binding GO:0008134 8.92 KAT6A MECP2 MED12 PURA

Sources for Alacrima, Achalasia, and Mental Retardation Syndrome

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
Content
Loading form....