Page last updated: 2024-09-27

Adhalinopathies

Limb girdle muscular dystrophies due to mutations in the gene for the ALPHA-SARCOGLYCAN or deficiencies in alpha-sarcoglycan due to a mutation in another gene (secondary alpha-sarcoglycanopathy).

Synonyms(11)

Synonym
Sarcoglycanopathies
Alpha-Sarcoglycanopathy
LGMD2D
Adhalinopathy, Primary
Sarcoglycanopathy
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
Adhalinopathies
Muscular Dystrophy, Limb-Girdle, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2D
Alpha-Sarcoglycanopathies
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency

Research Excerpts

Overview

ExcerptReference
"The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia."( Chen, WZ; Chou, PC; Hayashi, YK; Hung, CC; Jong, YJ; Kan, TM; Liang, WC; Nishino, I; Su, YN, 2016)
"Sarcoglycanopathies are rare limb girdle muscular dystrophies, still incurable, even though symptomatic treatments may slow down the disease progression."( Bensalah, M; Carotti, M; Fancello, I; Richard, I; Risato, G; SandonĂ , D; Scano, M; Soardi, M, 2020)

Research

Studies (18)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's11 (61.11)28.8240
2020's7 (38.89)9.53
DrugIndicatedRelationship StrengthStudiesTrials
glycine0low10
metformin0low10
activins0low10
prednisolone0low10
alanine0low10
alpha-aminopyridine0low10
cadmium0low10
fingolimod hydrochloride0low10
kifunensine0low10
deflazacort0low10
cyanidin-3-o-beta-glucopyranoside0low10
lumacaftor0low10
calpain0low50
technetium tc 99m sestamibi0low10

Protein Targets (148)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Carbonic anhydrase 10001
Carbonic anhydrase 20001
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0314
Proton-coupled amino acid transporter 10202
Adenosine deaminase0001
Carbonic anhydrase 40001
AR protein4004
retinoic acid nuclear receptor alpha variant 13003
estrogen nuclear receptor alpha4004
thyroid stimulating hormone receptor1001
thyroid hormone receptor beta isoform 21001
Voltage-dependent calcium channel gamma-2 subunit2002
Heat shock protein HSP 90-alpha0011
Botulinum neurotoxin type A 0101
Neutrophil cytosol factor 10101
Glutamate receptor 22002
Nitric oxide synthase, endothelial0101
Nitric oxide synthase, brain0101
Nitric oxide synthase, brain 0101
Nitric oxide synthase, inducible0101
Kappa-type opioid receptor0011
Phosphatidylinositol 4-kinase alpha0101
Mu-type opioid receptor0011
Tyrosine-protein kinase 0011
Phosphatidylinositol 4-kinase type 2-beta0101
Phosphatidylinositol 4-kinase type 2-alpha0101
Phosphatidylinositol 4-kinase beta0101
hypoxia-inducible factor 1 alpha subunit2002
progesterone receptor2002
cytochrome P450 family 3 subfamily A polypeptide 43003
glucocorticoid receptor [Homo sapiens]2002
retinoid X nuclear receptor alpha1001
estrogen-related nuclear receptor alpha2002
pregnane X nuclear receptor2002
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
aryl hydrocarbon receptor2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a3003
v-jun sarcoma virus 17 oncogene homolog (avian)2002
nuclear receptor subfamily 1, group I, member 22002
nuclear factor erythroid 2-related factor 2 isoform 11001
Interferon beta3003
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Sphingosine 1-phosphate receptor 10011
RCG53912, isoform CRA_a 0001
Sphingosine kinase 1 0001
Sphingosine kinase 20001
Sphingosine kinase 10001
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent glycine transporter 10101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Large neutral amino acids transporter small subunit 10101
Glutamate receptor ionotropic, NMDA 2D0213
Glutamate receptor ionotropic, NMDA 3B0213
Serine racemase0101
Olfactory receptor 51E20011
Glutamate receptor ionotropic, NMDA 3A0213
Sodium- and chloride-dependent glycine transporter 20101
Chain A, ALPHA1,2-MANNOSIDASE0101
Chain A, ALPHA1,2-MANNOSIDASE0101
Chain A, Alpha-mannosidase II0101
Chain A, PUTATIVE ALPHA-1,2-MANNOSIDASE0101
Chain A, Putative Alpha-1,2-mannosidase0101
Chain B, Alpha-1,2-mannosidase0101
Chain A, PUTATIVE ALPHA-1,2-MANNOSIDASE0101
Alpha-1,2-mannosidase family protein0101
Putative alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase, putative0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Glycoside hydrolase family 920101
Glycoside hydrolase family 920101
Alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase, putative0101
Putative alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase, putative0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Putative alpha-1,2-mannosidase0101
Alpha-1,2-mannosidase family protein0101
Fumarate hydratase1001
EWS/FLI fusion protein2002
G1001
polyprotein1001
HLA class I histocompatibility antigen, B alpha chain 1001
Cytochrome P450 2C80101
Cytochrome P450 2C9 0202
Cystic fibrosis transmembrane conductance regulator0022
Spike glycoprotein1001
Inositol hexakisphosphate kinase 11001
cytochrome P450 2C9, partial1001
Chain A, Ferritin light chain1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
geminin1001
histone acetyltransferase KAT2A isoform 11001
lamin isoform A-delta101001
Solute carrier family 22 member 20101
Solute carrier family 22 member 1 0101
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Bile salt export pump0202
Dihydrofolate reductase0101
Dipeptidyl peptidase 40101
Solute carrier family 22 member 10001
Canalicular multispecific organic anion transporter 10202
Multidrug and toxin extrusion protein 10101
luciferase0001
RAR-related orphan receptor gamma1001
TDP1 protein1001
GLI family zinc finger 31001
nuclear factor erythroid 2-related factor 2 isoform 21001
Fatty acid-binding protein, liver0101
Estrogen receptor0202
Glucocorticoid receptor0218
Cellular tumor antigen p531001
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Glutamine synthetase0011
Androgen receptor0101
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Histamine H1 receptor0011
Prostaglandin G/H synthase 20101
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]