ACLSD
MCID: ACD008
MIFTS: 54

Acid-Labile Subunit Deficiency (ACLSD)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Acid-Labile Subunit Deficiency

MalaCards integrated aliases for Acid-Labile Subunit Deficiency:

Name: Acid-Labile Subunit Deficiency 56 73 36 29 6
Acid-Labile Subunit, Deficiency of 56 39
Growth Disorders 43 71
Aclsd 56 73
Short Stature Due to Primary Acid-Labile Subunit Deficiency 58
Decreased Levels of Acid Labile Subunit 71

Characteristics:

Orphanet epidemiological data:

58
short stature due to primary acid-labile subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

OMIM 56 615961
KEGG 36 H01907
MeSH 43 D006130
ICD10 via Orphanet 33 E34.3
Orphanet 58 ORPHA140941
UMLS 71 C0018273 C3900122

Summaries for Acid-Labile Subunit Deficiency

KEGG : 36 Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment.

MalaCards based summary : Acid-Labile Subunit Deficiency, also known as acid-labile subunit, deficiency of, is related to silver-russell syndrome and insulin-like growth factor i, and has symptoms including muscle weakness and polydipsia. An important gene associated with Acid-Labile Subunit Deficiency is IGFALS (Insulin Like Growth Factor Binding Protein Acid Labile Subunit), and among its related pathways/superpathways are Relaxin signaling pathway and Development IGF-1 receptor signaling. The drugs Zinc and Zinc sulfate have been mentioned in the context of this disorder. Affiliated tissues include pituitary, liver and bone, and related phenotypes are delayed skeletal maturation and delayed puberty

OMIM : 56 Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011). (615961)

UniProtKB/Swiss-Prot : 73 Acid-labile subunit deficiency: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.

Related Diseases for Acid-Labile Subunit Deficiency

Diseases related to Acid-Labile Subunit Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 188)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 30.8 IGFBP3 IGF2 IGF1
2 insulin-like growth factor i 29.4 IGFBP3 IGF2 IGF1
3 turner syndrome 29.1 IGFBP3 IGF2 IGF1
4 hyperinsulinism 29.1 IGFBP3 IGF2 IGF1
5 pituitary hormone deficiency, combined, 2 29.0 IGFBP3 IGF1
6 hypopituitarism 28.7 IGFBP3 IGF1
7 congenital hypothyroidism 28.7 IGFBP3 IGF1
8 prader-willi syndrome 28.6 IGFBP3 IGF2 IGF1
9 acromegaly 28.6 IGFBP3 IGF2 IGF1
10 hypoglycemia 28.6 IGFBP3 IGF2 IGF1
11 laron syndrome 28.5 IGFBP3 IGF2 IGF1
12 fetal macrosomia 28.2 IGFBP3 IGF2 IGF1
13 mulibrey nanism 11.6
14 beckwith-wiedemann syndrome 11.1
15 spondyloepiphyseal dysplasia congenita 11.0
16 three m syndrome 1 11.0
17 blount's disease 10.9
18 short-rib thoracic dysplasia 1 with or without polydactyly 10.7
19 spondylocostal dysostosis 1, autosomal recessive 10.7
20 spondylocostal dysostosis 3, autosomal recessive 10.7
21 asphyxiating thoracic dystrophy 10.7
22 gonadal dysgenesis 10.1
23 bone mineral density quantitative trait locus 3 10.0
24 growth hormone deficiency 10.0
25 slipped capital femoral epiphysis 10.0 IGFBP3 IGF1
26 secondary adrenal insufficiency 10.0 IGFBP3 IGF1
27 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.0 IGFBP3 IGF1
28 mammographic density 10.0 IGFBP3 IGF1
29 overgrowth syndrome 9.9
30 marasmus 9.9 IGFBP3 IGF1
31 hyperpituitarism 9.9 IGFBP3 IGF1
32 empty sella syndrome 9.9 IGFBP3 IGF1
33 donohue syndrome 9.9 IGFBP3 IGF1
34 diffuse idiopathic skeletal hyperostosis 9.9 IGFBP3 IGF1
35 hyperostosis 9.9 IGFBP3 IGF1
36 pediatric osteosarcoma 9.9 IGFBP3 IGF1
37 pituitary adenoma 1, multiple types 9.9 IGFBP3 IGF1
38 osteoporosis, juvenile 9.9 IGFBP3 IGF1
39 hypothyroidism 9.9
40 dwarfism 9.9
41 anovulation 9.8 IGFBP3 IGF1
42 mccune-albright syndrome 9.8 IGFBP3 IGF1
43 pituitary gland disease 9.8 IGFBP3 IGF1
44 fasting hypoglycemia 9.8 IGF2 IGF1
45 potter's syndrome 9.8 IGF2 IGF1
46 microvascular complications of diabetes 1 9.8 IGFBP3 IGF1
47 nutritional deficiency disease 9.8 IGFBP3 IGF1
48 osteochondrosis 9.8 IGF2 IGF1
49 exudative vitreoretinopathy 1 9.8 IGFBP3 IGF1
50 persistent fetal circulation syndrome 9.7 IGF2 IGF1

Graphical network of the top 20 diseases related to Acid-Labile Subunit Deficiency:



Diseases related to Acid-Labile Subunit Deficiency

Symptoms & Phenotypes for Acid-Labile Subunit Deficiency

Human phenotypes related to Acid-Labile Subunit Deficiency:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 decreased serum insulin-like growth factor 1 58 31 hallmark (90%) Very frequent (99-80%) HP:0030353
4 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
5 truncal obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001956
6 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
7 growth delay 58 Very frequent (99-80%)
8 mild postnatal growth retardation 31 HP:0001530
9 insulin insensitivity 31 HP:0008189
10 reduced insulin like growth factor binding protein acid labile subunit level 31 HP:0045046

Clinical features from OMIM:

615961

UMLS symptoms related to Acid-Labile Subunit Deficiency:


muscle weakness, polydipsia

MGI Mouse Phenotypes related to Acid-Labile Subunit Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 IGF1 IGF2 IGFALS IGFBP3 TRIM37
2 limbs/digits/tail MP:0005371 9.46 IGF1 IGF2 IGFALS IGFBP3
3 muscle MP:0005369 9.26 IGF1 IGF2 IGFBP3 TRIM37
4 skeleton MP:0005390 9.02 IGF1 IGF2 IGFALS IGFBP3 TRIM37

Drugs & Therapeutics for Acid-Labile Subunit Deficiency

Drugs for Acid-Labile Subunit Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
3 Nutrients Phase 4
4 Trace Elements Phase 4
5 Micronutrients Phase 4
6 Astringents Phase 4
7 Dermatologic Agents Phase 4
8
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
9
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
10
Iron Approved, Experimental Phase 3 7439-89-6, 15438-31-0 23925 27284
11
Mecasermin Approved, Investigational Phase 3 68562-41-4
12
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
13
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
14 Vitamins Phase 2, Phase 3
15 Soy Bean Phase 2, Phase 3
16 Hypoglycemic Agents Phase 2, Phase 3
17 Estrogens Phase 3
18 Aromatase Inhibitors Phase 3
19 Estrogen Antagonists Phase 3
20 Antineoplastic Agents, Hormonal Phase 3
21 Steroid Synthesis Inhibitors Phase 3
22 Estrogen Receptor Antagonists Phase 3
23 retinol Phase 3
24 Retinol palmitate Phase 3
25 Antioxidants Phase 3
26 Protective Agents Phase 3
27 Hormones Phase 2, Phase 3
28 Hormone Antagonists Phase 2, Phase 3
29 Mitogens Phase 3
30 Insulin, Globin Zinc Phase 3
31 insulin Phase 3
32
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
33
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
34
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
35
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
36 Immunologic Factors Phase 2
37 Prolactin Release-Inhibiting Factors Phase 2
38 Anti-Infective Agents Phase 2
39 Antibiotics, Antitubercular Phase 2
40 Anti-Bacterial Agents Phase 2
41 Antifungal Agents Phase 2
42 Immunosuppressive Agents Phase 2
43
Ferrous fumarate Approved 141-01-5
44
Calcium carbonate Approved, Investigational 471-34-1
45
Zinc oxide Approved 1314-13-2
46
Baclofen Approved 1134-47-0 2284
47
Bromocriptine Approved, Investigational 25614-03-3 31101
48
Nicotine Approved 54-11-5 942 89594
49 Acipimox Approved, Investigational 51037-30-0
50
Hydrocortisone acetate Approved, Vet_approved 50-03-3

Interventional clinical trials:

(show top 50) (show all 116)
# Name Status NCT ID Phase Drugs
1 Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant Not yet recruiting NCT04050488 Phase 4 Zinc Sulfate;Placebos
2 Growth Hormone Treatment in Short Children Born Small for Date (Genotonorm) Completed NCT00174408 Phase 3 Genotropin
3 User Trial on the Use in Common Practice of a New Electronic Auto-injector of Saizen®, the E-Device (Electronic Device), in Children Treated by Recombinant Human Growth Hormone Over a Period of 2 Months Completed NCT00450190 Phase 3
4 A Two Years Multicentre Study of Genotropin Treatment of Short Prepubertal Children With Intra-Uterine Growth Retardation Completed NCT01073605 Phase 3 Genotonorm;Genotonorm;Genotonorm
5 Genotropin in Short Children Born Small for Gestational Ag - A Long-Term Study in Belgium Completed NCT00174421 Phase 3 Treatment with Genotropin in different dosages
6 Comparison of Somavaratan (VRS-317), a Long-acting Human Growth Hormone, to Daily rhGH in a Phase 3, Randomized, One-year, Open-label, Multi-center, Non-inferiority Trial in Pre-pubertal Children With Growth Hormone Deficiency. Completed NCT02339090 Phase 3 somavaratan;Daily rhGH
7 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
8 Phase III Study of Humatrope in Non-Growth Hormone Deficient Children With Short Stature Completed NCT00191074 Phase 3 somatropin, rDNA origin, for injection
9 A 12-month, Open-labelled, Randomised, Parallel-group, Multi-centre, Interventional Trial to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone (hGH) (Norditropin® Nordilet®) Therapy on Height Velocity (Ht-V) in Patients With Idiopathic Short Stature in Korea Completed NCT01778023 Phase 3 somatropin
10 Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Prepubertal Children With Growth Failure Associated With Primary IGF-1 Deficiency: A Phase 3, Randomized, Open Label, Observation-Controlled, Multicenter, Parallel-Dose Comparison Trial Completed NCT00125164 Phase 3 rhIGF-1 (mecasermin, Tercica, Inc.)
11 Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Short Stature Associated With Primary IGF-1 Deficiency: A Multi-Center, Open Label, Concentration-Controlled Study Completed NCT00125190 Phase 2, Phase 3 rhIGF-1 (mecasermin) for a period of 86 weeks
12 A Randomized Controlled Trial Of The Use Of Aromatase Inhibitors, Alone And In Combination With Growth Hormone In Adolescent Boys With Idiopathic Short Stature Completed NCT01248416 Phase 3 Aromatase Inhibitor;Growth Hormone;Aromatase Inhibitor and Growth Hormone
13 Evaluation of Complementary Food Supplements For Reducing Childhood Undernutrition: The JiVitA-4 Study Completed NCT01562379 Phase 2, Phase 3
14 A Single-centre, Randomised, Single-blind, Parallel Group Clinical Trial in Rural Malawi, Testing the Growth Promoting Effect of Long-term Complementary Feeding of Infants With a High-energy, Micronutrient Fortified Spread Completed NCT00524446 Phase 3
15 Effectiveness of Iron-Fortified Milk on Iron Status and Anemia in Young Children in Mexico Completed NCT00508131 Phase 3
16 Recombinant Human Insulin-Like Growth Factor-1 (IGF-1) Treatment of Children With Growth Failure Associated With Primary IGF-1 Deficiency: An Open-Label, Multi-Center, Extension Study Terminated NCT00330668 Phase 3 rh IGF-1 (mecasermin)
17 A Randomized, Phase 2/3, Open-Label, Multi-center Study of the Pharmacokinetics, Pharmacodynamics, Safety and Efficacy of A Long-acting Human Growth Hormone (Somavaratan, VRS-317) in Pre-pubertal Japanese Children With Growth Hormone Deficiency (GHD) Terminated NCT02413138 Phase 2, Phase 3 Somavaratan (VRS-317)
18 Nutrients and Hormones: Effects in Boys With Disordered Growth Completed NCT00139451 Phase 2 Pediasure;GH
19 A Double-Blind, Randomized, Placebo-Controlled Clinical Trial of Luteinizing Hormone-Releasing Hormone Analog (LHRHa) in Pubertal Patients With Extreme Short Stature Completed NCT00001190 Phase 2 Deslorelin
20 Nonrandomized Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
21 Recombinant Human Growth Hormone (rhGH) and Recombinant Human Insulin-like Growth Factor-1 rhIGF-1) Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency: A Six-year, Randomized, Multi-center, Open-label, Parallel-group, Active Treatment Controlled, Dose Selection Trial Terminated NCT00572156 Phase 2 NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin]);Increlex® (Mecasermin [rDNA origin] injection) + NutropinAq® (Somatropin [rDNA origin])
22 Effects of Growth Hormone Treatment on Body Proportions and Final Height Among Small Children With X-Linked Hypophosphatemic Rickets Unknown status NCT00473187 Phase 1 somatropin
23 A Trial to Examine the Bioequivalence of Norditropin® Versus Genotropin® in Healthy Adult Volunteers Completed NCT01401244 Phase 1 somatropin;somatropin
24 A Trial to Investigate the Bioequivalence of Norditropin® (Somatropin) Versus Genotropin® (Somatropin) in Healthy Adult Subjects Completed NCT01943084 Phase 1 Norditropin® FlexPro® pen;Genotropin Pen®
25 A Trial to Examine the Bioequivalence of Norditropin® Versus Nutropin AQ® in Healthy Adult Volunteers Withdrawn NCT01512095 Phase 1 somatropin;somatropin
26 Individualized Fortification of Breast Milk With Fat, Carbohydrate and Protein for Preterm Infants Unknown status NCT01609894
27 Lipolytic Effects of GH in Human Subjects in Vivo: Molecular Mechanisms and Temporal Patterns Unknown status NCT02782221 Growth Hormone;Pegisomant
28 Target Fortification of Breast Milk: The Effect of Different Schedules for Milk Analysis on the Growth and Development of Preterm Infants. Unknown status NCT02865941
29 Lipolytic Effects of GH in Hypopituitary Patients in Vivo: Molecular Mechanisms and Temporal Patterns. Unknown status NCT02782208 Acipimox;Placebo;GH substitution
30 The Effect of Higher Nutrient-Dense Complementary Foods on Catch-up Growth and Nutritional Status of Stunting Children in Dompu District, Indonesia Unknown status NCT02532816
31 Genentech National Cooperative Growth Study (NCGS) Post-Marketing Surveillance Program For Nutropin AQ® (Somatropin [rDNA Origin] Injection), Nutropin® (Somatropin [rDNA Origin] for Injection), and Protropin® (Somatrem for Injection) Completed NCT00097539
32 International Cooperative Growth Study (iNCGS) Post Marketing Surveillance Program for NutropinAq® [Somatropin (rDNA Origin) Injection] Completed NCT00455728
33 Pilot Study of the Effect of Baclofen and Bromocriptine on Luteinizing Hormone Secretion in Pubertal Children Completed NCT00004793
34 Evaluate the Effect of Growth Hormone (GH) Treatment on Fibroblast Growth Factor 23 (a Known Phosphaturic Agent) Completed NCT00334945
35 Easypod Connect: A Regional, Multicentre, Observational Study to Evaluate Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "Easypod™" Electromechanical Device for Growth Hormone Treatment Completed NCT02015286
36 Easypod Connect: A National, Multicentre, Observational Registry to Evaluate Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "Easypod™" Electromechanical Device for Growth Hormone Treatment in Italy Completed NCT01439061
37 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "easypodTM" Electromechanical Device for Growth Hormone Treatment in China Completed NCT01438528
38 Easypod Connect: A National, Multicentre, Observational Registry to Evaluate Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "Easypod™" Electromechanical Device for Growth Hormone Treatment in Columbia Completed NCT02208076
39 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment in Spain Completed NCT01376921
40 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment in Hungary Completed NCT01402999
41 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment in Czech Republic Completed NCT01400997
42 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment in Slovakia Completed NCT01400984
43 "Easypod™ Connect Registry": A Canadian, Multi-centre, Observational Registry to Study Adherence and Long Term Outcomes of SAIZEN® in Pediatric Subjects Using Easypod™ Auto-injector Completed NCT01267526
44 Easypod Connect: A National, Multicentre, Observational Registry to Evaluate Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "Easypod™" Electromechanical Device for Growth Hormone Treatment in Argentina Completed NCT01582334
45 Study of Environmental Toxicants and Inflammatory Markers in Prematurity and Diseases of Prematurity Completed NCT01439048
46 Easypod Connect: A National, Multicentre, Observational Registry to Evaluate Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using "Easypod™" Electromechanical Device for Growth Hormone Treatment in Mexico Completed NCT01555528
47 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment in Greece Completed NCT01363674
48 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment Completed NCT01263457
49 Easypod Connect: A National, Multicentre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment Completed NCT01259778
50 Easypod Connect: An Australian Multi-centre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Paediatric Subjects Using Easypod™ Electromechanical Device for Growth Hormone Treatment Completed NCT01309555

Search NIH Clinical Center for Acid-Labile Subunit Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Oxandrolone

Cochrane evidence based reviews: growth disorders

Genetic Tests for Acid-Labile Subunit Deficiency

Genetic tests related to Acid-Labile Subunit Deficiency:

# Genetic test Affiliating Genes
1 Acid-Labile Subunit Deficiency 29 IGFALS

Anatomical Context for Acid-Labile Subunit Deficiency

MalaCards organs/tissues related to Acid-Labile Subunit Deficiency:

40
Pituitary, Liver, Bone, Breast, Testes, Kidney, Heart

Publications for Acid-Labile Subunit Deficiency

Articles related to Acid-Labile Subunit Deficiency:

(show top 50) (show all 174)
# Title Authors PMID Year
1
Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 56 6
17726072 2007
2
Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. 56 6
14762184 2004
3
Acid-labile subunit (ALS) deficiency. 56
21396577 2011
4
ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS. 61
31419723 2019
5
Genetics of Growth Disorders-Which Patients Require Genetic Testing? 61
31555216 2019
6
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency. 61
28445628 2017
7
Clinical and biochemical characteristics and bone mineral density of homozygous, compound heterozygous and heterozygous carriers of three novel IGFALS mutations. 61
28249955 2017
8
Challenges in the Management of Short Stature. 61
26649429 2016
9
A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). 61
23488611 2013
10
Case report: low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function. 61
21664162 2011
11
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. 54
19838731 2010
12
Growth hormone and insulin-like growth factor I insensitivity of fibroblasts isolated from a patient with an I{kappa}B{alpha} mutation. 54
20080849 2010
13
Acid-labile subunit deficiency and growth failure: description of two novel cases. 61
20389102 2010
14
Insulin-like growth factor-I in growth and metabolism. 54
20432800 2010
15
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. 54
19578035 2009
16
Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. 54
20020582 2009
17
Establishment of reference serum insulin-like growth factor-I and insulin-like growth factor binding protein-3 levels of Tunisian children during childhood and adolescence. 54
19494704 2009
18
IGF-I abuse in sport. 54
20443773 2009
19
Imaging of SHOX-associated anomalies. 54
19724992 2009
20
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 54
19498317 2009
21
Recombinant human insulin-like growth factor-1 treatment: ready for primetime. 54
19717008 2009
22
Profile of mecasermin for the long-term treatment of growth failure in children and adolescents with severe primary IGF-1 deficiency. 54
19707272 2009
23
Gynecological tumors in Mulibrey nanism and role for RING finger protein TRIM37 in the pathogenesis of ovarian fibrothecomas. 54
19329943 2009
24
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. 54
19407498 2009
25
Update on the role of aromatase inhibitors in growth disorders. 54
19153508 2009
26
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences. 61
19729943 2009
27
Insulin-like growth factor-I receptor signal transduction and the Janus Kinase/Signal Transducer and Activator of Transcription (JAK-STAT) pathway. 54
19319849 2009
28
Recombinant human insulin-like growth factor-I therapy for children with growth disorders. 54
19066756 2008
29
Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone. 54
19189700 2008
30
Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. 54
18553546 2008
31
Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. 54
18349070 2008
32
Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 61
18303074 2008
33
Factors predicting the near-final height in growth hormone-treated children and adolescents with chronic kidney disease. 54
18198222 2008
34
Insulin-like growth factor-I (rhIGF-I) therapy of short stature. 54
18556960 2008
35
Anaphylactic reaction to recombinant insulin-like growth factor-I. 54
18556970 2008
36
Constitutional delay of growth and puberty is not commonly associated with mutations in the acid labile subunit gene. 54
18362293 2008
37
Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer. 54
18365005 2008
38
Growth hormone improves growth rate and preserves renal function in Dent disease. 54
18540256 2008
39
Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism. 54
18404972 2008
40
Serum ghrelin concentrations are increased in children with growth hormone insensitivity and decrease during long-term insulinlike growth factor-I treatment. 54
18317425 2008
41
Growth hormone axis in chronic kidney disease. 54
17676425 2008
42
Mecasermin. 54
18481900 2008
43
Serum levels of insulin-like growth factor-I in relation to organochlorine pesticides exposure. 54
17601760 2007
44
BNP is a transcriptional target of the short stature homeobox gene SHOX. 54
17881654 2007
45
Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testing. 54
17984239 2007
46
The novel human SHOX allelic variant database. 54
17726696 2007
47
IGF-I therapy in growth disorders. 54
17785699 2007
48
The role of recombinant insulin-like growth factor I in the treatment of the short child. 54
17630612 2007
49
Efficacy and safety of a new ready-to-use recombinant human growth hormone solution. 54
17848841 2007
50
Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states. 54
17405847 2007

Variations for Acid-Labile Subunit Deficiency

ClinVar genetic disease variations for Acid-Labile Subunit Deficiency:

6 (show top 50) (show all 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGFALS NM_004970.2(IGFALS):c.103del (p.Glu35fs)deletion Pathogenic 8127 rs587776686 16:1842316-1842316 16:1792315-1792315
2 IGFALS NM_004970.2(IGFALS):c.1618T>C (p.Cys540Arg)SNV Pathogenic 8128 rs121909247 16:1840801-1840801 16:1790800-1790800
3 IGFALS NM_004970.2(IGFALS):c.583_591dup (p.Ser195_Arg197dup)duplication Pathogenic 8129 rs606231171 16:1841827-1841828 16:1791826-1791827
4 IGFALS NM_004970.2(IGFALS):c.827A>G (p.Asn276Ser)SNV Likely pathogenic 318251 rs551618643 16:1841592-1841592 16:1791591-1791591
5 IGFALS NM_001146006.2(IGFALS):c.748G>A (p.Ala250Thr)SNV Conflicting interpretations of pathogenicity 318256 rs368097770 16:1841785-1841785 16:1791784-1791784
6 IGFALS NM_004970.2(IGFALS):c.1266C>T (p.Leu422=)SNV Conflicting interpretations of pathogenicity 318242 rs36068954 16:1841153-1841153 16:1791152-1791152
7 IGFALS NM_004970.2(IGFALS):c.99G>A (p.Pro33=)SNV Conflicting interpretations of pathogenicity 318268 rs189350550 16:1842320-1842320 16:1792319-1792319
8 IGFALS NM_004970.2(IGFALS):c.861C>T (p.Pro287=)SNV Conflicting interpretations of pathogenicity 318250 rs750405773 16:1841558-1841558 16:1791557-1791557
9 IGFALS NM_004970.2(IGFALS):c.605C>T (p.Ala202Val)SNV Uncertain significance 318257 rs371767421 16:1841814-1841814 16:1791813-1791813
10 IGFALS NM_004970.2(IGFALS):c.246C>T (p.Asp82=)SNV Uncertain significance 318263 rs776965925 16:1842173-1842173 16:1792172-1792172
11 IGFALS NM_004970.2(IGFALS):c.91G>A (p.Gly31Arg)SNV Uncertain significance 318269 rs766742915 16:1842328-1842328 16:1792327-1792327
12 IGFALS NM_004970.2(IGFALS):c.65C>T (p.Pro22Leu)SNV Uncertain significance 318270 rs199804680 16:1842354-1842354 16:1792353-1792353
13 IGFALS NM_004970.2(IGFALS):c.17-5C>ASNV Uncertain significance 318272 rs35500047 16:1842407-1842407 16:1792406-1792406
14 IGFALS NM_004970.2(IGFALS):c.*175C>TSNV Uncertain significance 318227 rs761476982 16:1840426-1840426 16:1790425-1790425
15 IGFALS NM_004970.2(IGFALS):c.*102C>GSNV Uncertain significance 318230 rs886051774 16:1840499-1840499 16:1790498-1790498
16 IGFALS NM_004970.2(IGFALS):c.1724C>T (p.Ala575Val)SNV Uncertain significance 318232 rs770945305 16:1840695-1840695 16:1790694-1790694
17 IGFALS NM_004970.2(IGFALS):c.1195G>A (p.Gly399Arg)SNV Uncertain significance 318243 rs35128702 16:1841224-1841224 16:1791223-1791223
18 IGFALS NM_004970.2(IGFALS):c.777G>A (p.Pro259=)SNV Uncertain significance 318253 rs376070681 16:1841642-1841642 16:1791641-1791641
19 IGFALS NM_004970.2(IGFALS):c.646G>A (p.Gly216Ser)SNV Uncertain significance 318255 rs773571927 16:1841773-1841773 16:1791772-1791772
20 CDK12 deletion Uncertain significance 635882 17:37617331-37737185
21 C17orf97 , GEMIN4 , GLOD4 , MRM3 , RFLNB , RPH3AL , TLCD3A , VPS53 deletion Uncertain significance 635883 17:163753-687906
22 NBPF8 , PPIAL4A , TRN-GTT11-1 duplication Uncertain significance 635904 1:144124843-144680183
23 ANKRD45 , CENPL , DARS2 , GAS5 , KLHL20 , PRDX6 , RC3H1 , SERPINC1 , SLC9C2 , ZBTB37 deletion Uncertain significance 635908 1:173401888-174124738
24 covers 18 genes, none of which curated to show dosage sensitivity duplication Uncertain significance 635924 1:145461209-146467333
25 covers 12 genes, none of which curated to show dosage sensitivity duplication Uncertain significance 635957 3:158567751-160802139
26 IGFALS NM_004970.2(IGFALS):c.920C>T (p.Pro307Leu)SNV Uncertain significance 318247 rs34297640 16:1841499-1841499 16:1791498-1791498
27 IGFALS NM_004970.2(IGFALS):c.917G>A (p.Arg306Gln)SNV Uncertain significance 318248 rs201176815 16:1841502-1841502 16:1791501-1791501
28 IGFALS NM_004970.2(IGFALS):c.872G>A (p.Gly291Asp)SNV Uncertain significance 318249 rs761807331 16:1841547-1841547 16:1791546-1791546
29 IGFALS NM_004970.2(IGFALS):c.1478G>A (p.Arg493His)SNV Uncertain significance 318237 rs200380381 16:1840941-1840941 16:1790940-1790940
30 IGFALS NM_004970.2(IGFALS):c.1466T>C (p.Val489Ala)SNV Uncertain significance 318238 rs886051776 16:1840953-1840953 16:1790952-1790952
31 IGFALS NM_004970.2(IGFALS):c.*140C>TSNV Uncertain significance 318229 rs886051773 16:1840461-1840461 16:1790460-1790460
32 IGFALS NM_004970.2(IGFALS):c.1694T>C (p.Ile565Thr)SNV Uncertain significance 318234 rs886051775 16:1840725-1840725 16:1790724-1790724
33 IGFALS NM_004970.2(IGFALS):c.1065G>A (p.Ala355=)SNV Uncertain significance 318245 rs200778437 16:1841354-1841354 16:1791353-1791353
34 IGFALS NM_004970.2(IGFALS):c.684C>T (p.Asn228=)SNV Uncertain significance 318254 rs370272076 16:1841735-1841735 16:1791734-1791734
35 IGFALS NM_004970.2(IGFALS):c.229C>A (p.Gln77Lys)SNV Uncertain significance 318264 rs886051779 16:1842190-1842190 16:1792189-1792189
36 IGFALS NM_004970.2(IGFALS):c.593A>T (p.Glu198Val)SNV Uncertain significance 318258 rs184411457 16:1841826-1841826 16:1791825-1791825
37 IGFALS NM_004970.2(IGFALS):c.438C>T (p.Pro146=)SNV Uncertain significance 318259 rs778824150 16:1841981-1841981 16:1791980-1791980
38 IGFALS NM_004970.2(IGFALS):c.371T>C (p.Leu124Pro)SNV Uncertain significance 318260 rs758306817 16:1842048-1842048 16:1792047-1792047
39 IGFALS NM_004970.2(IGFALS):c.340G>A (p.Glu114Lys)SNV Uncertain significance 318261 rs886051778 16:1842079-1842079 16:1792078-1792078
40 IGFALS NM_004970.2(IGFALS):c.1708G>A (p.Asp570Asn)SNV Uncertain significance 318233 rs143070371 16:1840711-1840711 16:1790710-1790710
41 IGFALS NM_004970.2(IGFALS):c.108C>T (p.Ala36=)SNV Uncertain significance 318266 rs886051780 16:1842311-1842311 16:1792310-1792310
42 IGFALS NM_004970.2(IGFALS):c.107C>A (p.Ala36Asp)SNV Uncertain significance 318267 rs371431357 16:1842312-1842312 16:1792311-1792311
43 IGFALS NM_004970.2(IGFALS):c.-32G>ASNV Uncertain significance 318274 rs377421238 16:1843685-1843685 16:1793684-1793684
44 IGFALS NM_004970.2(IGFALS):c.-53A>GSNV Uncertain significance 318275 rs532454210 16:1843706-1843706 16:1793705-1793705
45 IGFALS NM_004970.2(IGFALS):c.*155T>GSNV Uncertain significance 318228 rs781667184 16:1840446-1840446 16:1790445-1790445
46 IGFALS NM_004970.2(IGFALS):c.1795G>A (p.Glu599Lys)SNV Uncertain significance 318231 rs771980337 16:1840624-1840624 16:1790623-1790623
47 IGFALS NM_004970.2(IGFALS):c.1414G>C (p.Glu472Gln)SNV Uncertain significance 318240 rs762140953 16:1841005-1841005 16:1791004-1791004
48 IGFALS NM_004970.2(IGFALS):c.1173G>A (p.Leu391=)SNV Uncertain significance 318244 rs886051777 16:1841246-1841246 16:1791245-1791245
49 IGFALS NM_004970.2(IGFALS):c.1031C>T (p.Thr344Met)SNV Uncertain significance 318246 rs775129479 16:1841388-1841388 16:1791387-1791387
50 IGFALS NM_004970.2(IGFALS):c.1566G>A (p.Thr522=)SNV Likely benign 318236 rs2230053 16:1840853-1840853 16:1790852-1790852

UniProtKB/Swiss-Prot genetic disease variations for Acid-Labile Subunit Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 IGFALS p.Cys60Ser VAR_072475
2 IGFALS p.Pro73Leu VAR_072476 rs766004600
3 IGFALS p.Leu134Gln VAR_072477
4 IGFALS p.Leu244Phe VAR_072479 rs774634302
5 IGFALS p.Asn276Ser VAR_072480 rs551618643
6 IGFALS p.Asp440Asn VAR_072482 rs776840046
7 IGFALS p.Cys540Arg VAR_072483 rs121909247
8 IGFALS p.Leu127Pro VAR_074071

Copy number variations for Acid-Labile Subunit Deficiency from CNVD:

7 (show all 17)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 48349 11 1 2800000 Microduplications ICR growth disorder
2 48352 11 1 2800000 Microduplications KCNQ1OT1 growth disorder
3 186573 4 36900000 88200000 Microdeletion growth disorder
4 189124 4 70547247 84066553 Microdeletion growth disorder
5 189597 4 76077557 85788996 Microdeletion growth disorder
6 189653 4 76949115 83601083 Microdeletion growth disorder
7 189689 4 77174381 86773353 Microdeletion growth disorder
8 189830 4 78995025 84459549 Microdeletion growth disorder
9 189926 4 80293554 86615654 Microdeletion growth disorder
10 189961 4 80926692 84215893 Microdeletion growth disorder
11 190015 4 81706999 96867539 Microdeletion growth disorder
12 190036 4 82228861 82345239 Deletion PRKG2 growth disorder
13 190040 4 82228875 86711060 Microdeletion growth disorder
14 190059 4 82567243 82612085 Deletion RASGEF1B growth disorder
15 190110 4 83493491 83514173 Deletion HNRPD growth disorder
16 190119 4 83563371 83570402 Deletion HNRPDL growth disorder
17 190124 4 83570787 83601264 Deletion ENOPH1 growth disorder

Expression for Acid-Labile Subunit Deficiency

Search GEO for disease gene expression data for Acid-Labile Subunit Deficiency.

Pathways for Acid-Labile Subunit Deficiency

GO Terms for Acid-Labile Subunit Deficiency

Cellular components related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 IGFBP3 IGFALS IGF2 IGF1
2 platelet alpha granule lumen GO:0031093 9.16 IGF2 IGF1
3 insulin-like growth factor binding protein complex GO:0016942 8.96 IGFBP3 IGF1
4 insulin-like growth factor ternary complex GO:0042567 8.8 IGFBP3 IGFALS IGF1

Biological processes related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.46 IGF2 IGF1
2 osteoblast differentiation GO:0001649 9.43 IGFBP3 IGF2
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.4 IGF2 IGF1
4 positive regulation of mitotic nuclear division GO:0045840 9.37 IGF2 IGF1
5 positive regulation of activated T cell proliferation GO:0042104 9.32 IGF2 IGF1
6 positive regulation of glycogen biosynthetic process GO:0045725 9.26 IGF2 IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.16 IGFBP3 IGF1
8 positive regulation of MAPK cascade GO:0043410 9.13 IGFBP3 IGF2 IGF1
9 cellular protein metabolic process GO:0044267 8.92 IGFBP3 IGFALS IGF2 IGF1

Molecular functions related to Acid-Labile Subunit Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 IGF2 IGF1
2 insulin-like growth factor binding GO:0005520 9.16 IGFBP3 IGFALS
3 insulin receptor binding GO:0005158 8.96 IGF2 IGF1
4 insulin-like growth factor receptor binding GO:0005159 8.62 IGF2 IGF1

Sources for Acid-Labile Subunit Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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