ANES
MCID: ALP041
MIFTS: 50

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (ANES)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

MalaCards integrated aliases for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

Name: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 56 73 29 13 6 39 71
Ane Syndrome 56 58 73
Endocrine System Diseases 43 71
Anes 56 73
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 58
Alopecia-Progressive Neurological Defect-Endocrinopathy 73
Alopecia Neurologic Defects and Endocrinopathy Syndrome 36
Endocrine System Disease 17

Characteristics:

Orphanet epidemiological data:

58
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
endocrine defects evolve over time
based on report of 5 brothers of arab-moslem descent (last curated february 2015)


HPO:

31
alopecia, neurologic defects, and endocrinopathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases


Summaries for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

KEGG : 36 Alopecia neurological defects and endocrinopathy syndrome (ANE syndrome) is an autosomal recessive disease that is clinically heterogeneous. ANE syndrome patients display multiple signs including a varied amount of hair loss, mental retardation, progressive loss of motor ability beginning in the second decade of life, hypogonadism, central adrenal insufficiency, short stature, microcephaly, and several other skeletal and skin abnormalities. The syndrome is caused by decreased expression of the nucleolar protein RBM28, known to be required for biogenesis of the 60S subunit of the ribosome.

MalaCards based summary : Alopecia, Neurologic Defects, and Endocrinopathy Syndrome, also known as ane syndrome, is related to hair-an syndrome and rare hemorrhagic disorder due to an acquired platelet anomaly, and has symptoms including cushingoid facies, pathological conditions, signs and symptoms and breast pain male. An important gene associated with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome is RBM28 (RNA Binding Motif Protein 28), and among its related pathways/superpathways is Ribosome biogenesis in eukaryotes. The drugs Insulin glargine and Insulin aspart have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and skin, and related phenotypes are intellectual disability and hyperpigmented nevi

UniProtKB/Swiss-Prot : 73 Alopecia, neurologic defects, and endocrinopathy syndrome: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.

More information from OMIM: 612079

Related Diseases for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 13015)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.3
2 rare hemorrhagic disorder due to an acquired platelet anomaly 12.2
3 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin 12.2
4 hemophagocytic syndrome associated with an infection 12.2
5 rare hemorrhagic disorder due to an acquired coagulation factor defect 12.1
6 sickle cell disease associated with an other hemoglobin anomaly 12.1
7 obsolete: common variable immunodeficiency due to an intrinsic b cell defect 12.1
8 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 12.1
9 obsolete: common variable immunodeficiency due to an intrinsic t cell defect 12.1
10 sucking/swallowing disorder associated with an identified syndrome 12.0
11 particular clinical situation or non rare disorder with an orphan designation 12.0
12 rare thrombotic disorder due to an acquired platelet anomaly 12.0
13 rare thrombotic disorder due to an acquired coagulation factors defect 12.0
14 systemic inflammatory disease associated with an acquired peripheral neuropathy 12.0
15 hematological disease associated with an acquired peripheral neuropathy 12.0
16 solid tumor associated with an acquired peripheral neuropathy 12.0
17 silver-russell syndrome due to an imprinting defect of 11p15 12.0
18 obsolete: polydactyly of an index finger, unilateral 12.0
19 obsolete: polydactyly of an index finger, bilateral 12.0
20 rare female infertility due to an implantation defect 12.0
21 female infertility due to an implantation defect of genetic origin 12.0
22 rare female infertility due to an anomaly of ovarian function of genetic origin 12.0
23 rare female infertility due to an anomaly of ovarian function 12.0
24 rare female infertility due to an adrenal disorder 12.0
25 obsolete: channelopathy due to an inwardly rectifying potassium channel defect 12.0
26 obsolete: channelopathy due to an epithelial sodium channel defect 12.0
27 obsolete: pituitary deficiency secondary to an anevrysm 12.0
28 obsolete: spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 12.0
29 obsolete: autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect 12.0
30 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection 12.0
31 obsolete: male infertility with normal virilization due to an acquired testicular defect 12.0
32 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with drug 12.0
33 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with radiation 12.0
34 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin 12.0
35 obsolete: male infertility with impaired virilization due to an hypothalamic or pituitary disorder 12.0
36 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity 12.0
37 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease 12.0
38 obsolete: male infertility with impaired virilization due to a testicular disorder associated with an immune disorder 12.0
39 obsolete: male infertility with impaired virilization due to an acquired testicular defect 12.0
40 obsolete: male infertility with impaired virilization due to an acquired testicular defect drug-related 12.0
41 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with trauma 12.0
42 rare constitutional hemolytic anemia due to an enzyme disorder 12.0
43 congenital intestinal disease due to an enzymatic defect 12.0
44 schizophrenia 11.8
45 aniridia 1 11.8
46 acanthosis nigricans 11.7
47 anorexia nervosa 11.7
48 acute necrotizing encephalitis 11.6
49 schizophrenia 1 11.6
50 schizophrenia 3 11.6

Comorbidity relations with Alopecia, Neurologic Defects, and Endocrinopathy Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis Hypertension, Essential

Graphical network of the top 20 diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:



Diseases related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Symptoms & Phenotypes for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Human phenotypes related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 hyperpigmented nevi 58 31 frequent (33%) Frequent (79-30%) HP:0007481
3 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
4 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
7 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
8 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
9 lipoatrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100578
10 motor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002333
11 hypogonadotrophic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000044
12 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
13 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
14 decreased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0040171
15 motor neuron atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007373
16 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
17 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
18 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
19 premature loss of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006480
20 adrenocorticotropin deficient adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011735
21 growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000824
22 decreased serum insulin-like growth factor 1 58 31 frequent (33%) Frequent (79-30%) HP:0030353
23 ulnar deviation of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009487
24 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
25 abnormal response to acth stimulation test 58 31 frequent (33%) Frequent (79-30%) HP:0031074
26 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
27 pituitary hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0008245
28 reduced circulating prolactin concentration 31 occasional (7.5%) HP:0008202
29 flexion contracture 31 HP:0001371
30 skeletal muscle atrophy 31 HP:0003202
31 melanocytic nevus 31 HP:0000995
32 hypogonadism 31 HP:0000135
33 upper motor neuron dysfunction 31 HP:0002493
34 adrenal insufficiency 31 HP:0000846
35 prolactin deficiency 58 Occasional (29-5%)
36 central adrenal insufficiency 31 HP:0011734
37 reduced subcutaneous adipose tissue 31 HP:0003758
38 ulnar deviation of the hand or of fingers of the hand 31 HP:0001193

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphoscoliosis

Chest Breasts:
gynecomastia

Muscle Soft Tissue:
decreased subcutaneous fat
muscle atrophy

Endocrine Features:
central adrenal insufficiency
hypogonadotropic hypogonadism
low testosterone levels
absent or delayed puberty
low insulin-like growth factor-1 (igf1) concentration
more
Skeletal:
joint contractures

Skin Nails Hair Hair:
alopecia, variable severity
scalp biopsy shows absence of mature hair follicles

Head And Neck Teeth:
hypodontia
dental caries
early teeth loss

Neurologic Central Nervous System:
upper motor neuron dysfunction
mental retardation, moderate to severe
motor deterioration in second decade
lower motor neuron dysfunction
brain mri shows hypoplastic pituitary

Head And Neck Head:
decreased head circumference

Skin Nails Hair Skin:
pigmented nevi
hyperpigmentation in flexure areas

Skeletal Hands:
ulnar deviation of the hands

Clinical features from OMIM:

612079

UMLS symptoms related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:


cushingoid facies, pathological conditions, signs and symptoms, breast pain male

Drugs & Therapeutics for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Drugs for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 250)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Insulin glargine Approved Phase 4 160337-95-1
2
Insulin aspart Approved Phase 4 116094-23-6 16132418
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
10
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
11 Insulin degludec, insulin aspart drug combination Phase 4
12 Insulin, Long-Acting Phase 4
13 Psychotropic Drugs Phase 4
14 Antidepressive Agents Phase 4
15 Hormones Phase 4
16 Hormone Antagonists Phase 4
17 Gastrointestinal Agents Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Hydrocortisone 17-butyrate 21-propionate Phase 4
20 Hydrocortisone hemisuccinate Phase 4
21 Anti-Inflammatory Agents Phase 4
22 HIV Protease Inhibitors Phase 4
23
protease inhibitors Phase 4
24 Neurotransmitter Agents Phase 4
25 Epinephryl borate Phase 4
26 Adrenergic Agonists Phase 4
27 Sympathomimetics Phase 4
28 Adrenergic Agents Phase 4
29 Autonomic Agents Phase 4
30 Vasoconstrictor Agents Phase 4
31 Antimetabolites Phase 4
32 glucocorticoids Phase 4
33 Antiemetics Phase 4
34 Serotonin Receptor Agonists Phase 4
35 Serotonin Uptake Inhibitors Phase 4
36 Serotonin Agents Phase 4
37 BB 1101 Phase 4
38 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
39 Hypoglycemic Agents Phase 4
40 Sodium-Glucose Transporter 2 Inhibitors Phase 4
41 5-(4-chloro-3-(4-ethoxybenzyl)phenyl)-1-hydroxymethyl-6,8-dioxabicyclo(3.2.1)... Phase 4
42
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
43
Metformin Approved Phase 3 657-24-9 4091 14219
44
Saxagliptin Approved Phase 3 361442-04-8 11243969
45
Acarbose Approved, Investigational Phase 3 56180-94-0 441184
46
Glimepiride Approved Phase 3 93479-97-1 3476
47
Calcium carbonate Approved, Investigational Phase 3 471-34-1
48
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
49
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
50
Ethanol Approved Phase 3 64-17-5 702

Interventional clinical trials:

(show top 50) (show all 241)
# Name Status NCT ID Phase Drugs
1 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
2 Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Children Growth Hormone Deficiency: A Multicenter, Randomized, Parallel, Dose-control Clinical Trial II Unknown status NCT02908958 Phase 4
3 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Randomized, Open-label, Parallel Phase IV Clinical Trial With Different Administration Frequency of PEG Somatropin Unknown status NCT02976675 Phase 4
4 Open-label, Single-arm, Phase IV, Multicenter Trial to Explore the Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
5 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
6 The Effect of Insulin Degludec on Risk of Symptomatic Nocturnal Hypoglycaemia in Subjects With Type 1 Diabetes and High Risk of Nocturnal Severe Hypoglycaemia Completed NCT02192450 Phase 4 Insulin aspart/glargine;Insulin aspart/degludec
7 Effects of the Addition of Metyrapone to Antidepressant Therapy in Depression With Dexamethasone Suppression Test Non-suppression. Recruiting NCT03491696 Phase 4 Metyrapone
8 Effects of Long-term L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Patients With Hypothyroidism Active, not recruiting NCT01848171 Phase 4 L-thyroxine
9 The Beneficial Effect of L-Thyroxine Long -Term Replacement on Lipid Profiles and Atherosclerosis in Subclinical Hypothyroidism: A Prospective Study Active, not recruiting NCT01831869 Phase 4 L-thyroxine
10 The EMMED-HF Study: Evaluating Metabolic Mechanisms of Ertugliflozin in Diabetes & Heart Failure Not yet recruiting NCT04071626 Phase 4 Ertugliflozin 5 mg;Placebo oral tablet
11 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
12 Placebo Controlled Trial on the Efficacy of Growth Hormone Replacement Therapy in Patients With Growth Hormone Deficiency After Traumatic Brain Injury. Terminated NCT00555009 Phase 4 Genotropin;Placebo
13 Head Trauma With Traumatic Brain Injury (TBI): A Multicenter, Phase IV Study to Evaluate the Effects of Genotropin in Adult Patients With Growth Hormone Deficiency (GHD) Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
14 Randomized Controlled Trial Comparing the Metabolic Efficiency of Allogeneic Pancreatic Islet Transplantation to Intensive Insulin Therapy for the Treatment of Type 1 Diabetes Unknown status NCT01148680 Phase 3
15 Evolution Of Growth Rate In Children Suffering From A Disease Associated With Growth Retardation and Treated By Genotonorm. A Pilot Study. Completed NCT00163215 Phase 3 Somatropin
16 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
17 Phase III of the Comparative Study on the Efficacy and Safety of Recombinant Somatropin Administered to Patients With Adult Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
18 A Phase III, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Multicenter Study to Assess Efficacy and Safety of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency. Completed NCT00294619 Phase 3 growth hormone
19 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
20 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
21 Effect of Two Years of Treatment With Norditropin® SimpleXx® on Bone Mineral Density in Young Adults With Childhood-Onset Growth Hormone Deficiency Completed NCT00184678 Phase 3 somatropin
22 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
23 A Multicenter, Randomized, Double-Blind, Placebo Controlled, Parallel Group, Phase III Trial to Evaluate the Safety and Efficacy of Dapagliflozin as Monotherapy in Subjects With Type 2 Diabetes Who Have Inadequate Glycemic Control With Diet and Exercise Completed NCT00736879 Phase 3 Dapagliflozin;Placebo
24 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin
25 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Humatrope in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
26 Phase 3, Active-Controlled, Safety and Efficacy Trial of Oral Testosterone Undecanoate (TU, LPCN 1021) in Hypogonadal Men Completed NCT02081300 Phase 3 Oral testosterone undecanoate, LPCN 1021;Topical testosterone gel 1.62 %
27 A Phase III, Open-label, Uncontrolled, Multicentre, Rollover Study to Assess Safety and Efficacy of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
28 fliGHt: A Multicenter, Phase 3, Open-Label, 26-Week Trial Investigating the Safety, Tolerability and Efficacy of TransCon hGH Administered Once Weekly in Children With GHD Completed NCT03305016 Phase 3 TransCon hGH
29 A Multicentre, Randomised, Open-labelled, Parallel-group, Activecontrolled Trial to Evaluate the Safety of Once Weekly Dosing of Somapacitan (NNC0195-0092) and Daily Norditropin® FlexPro® for 52 Weeks in Previously Human Growth Hormone Treated Japanese Adults With Growth Hormone Deficiency Completed NCT03075644 Phase 3 somapacitan;Norditropin
30 A Multicenter, Randomized, Double-Blind, Active-Controlled, Phase 3 Trial to Evaluate the Efficacy and Safety of Saxagliptin in Combination With Metformin IR as Initial Therapy Compared to Saxagliptin Monotherapy and to Metformin IR Monotherapy in Subjects With Type 2 Diabetes Who Have Inadequate Glycaemic Control Completed NCT02273050 Phase 3 Saxagliptin 5 mg;Placebo 5 mg for Saxagliptin;Placebo 500 mg for metformin (with titration);Metformin 500 mg with titration
31 A Multicentre, Multinational, Randomised, Open-labelled, Parallel-group, Active-controlled Trial to Compare the Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® FlexPro® for 26 Weeks in Previously Human Growth Hormone Treated Adults With Growth Hormone Deficiency Completed NCT02382939 Phase 3 somapacitan;somatropin
32 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Phase 3 Trial to Evaluate the Safety and Efficacy of Dapagliflozin in Combination With Metformin in Subjects With Type 2 Diabetes Who Have Inadequate Glycemic Control on Metformin Alone Completed NCT00528879 Phase 3 Dapagliflozin;Placebo;Metformin
33 Pegylated Somatropin in the Treatment of Children With Growth Hormone Deficient:A Multicenter, Randomized, Open-label, Controlled Phase Ⅲ Clinical Trial Completed NCT01495468 Phase 3
34 A Multicentre, Multinational, Randomised, Parallel-group, Placebo-controlled (Double Blind) and Active-controlled (Open) Trial to Compare the Efficacy and Safety of Once Weekly Dosing of NNC0195-0092 (Somapacitan) With Once Weekly Dosing of Placebo and Daily Norditropin® FlexPro® in Adults With Growth Hormone Deficiency for 35 Weeks, Followed by a 53-week Open-label Extension Period Completed NCT02229851 Phase 3 somapacitan;somatropin;placebo
35 A Phase III, Multicenter, Double-Blind, Randomized Study to Evaluate the Safety and Efficacy of the Addition of MK-3102 Compared With the Addition of Sitagliptin in Subjects With Type 2 Diabetes Mellitus With Inadequate Glycemic Control on Metformin Completed NCT01841697 Phase 3 Omarigliptin;Sitagliptin;Placebo to omarigliptin;Placebo to Sitagliptin;Open-label Metformin;Open-label Glimepiride
36 A Phase III, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Safety and Efficacy of MK-3102 in ≥18 and <45 Year-Old Subjects With Type 2 Diabetes Mellitus and Inadequate Glycemic Control Completed NCT01814748 Phase 3 Omarigliptin;Placebo to omarigliptin;Metformin
37 A Randomised, Open-label, Parallel-group, Multi-centre Trial to Compare the Efficacy and Safety for 12 Months of Zomacton to Genotropin in Children With Idiopathic Growth Hormone Deficiency Completed NCT00884000 Phase 3 Genotropin;Zomacton
38 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Phase 3 Trial to Evaluate the Safety and Efficacy of Dapagliflozin in Subjects With Type 2 Diabetes With Inadequately Controlled Hypertension on an Angiotensin-Converting Enzyme Inhibitor (ACEI) or Angiotensin Receptor Blocker (ARB) Completed NCT01137474 Phase 3 Dapagliflozin;Placebo-matching dapagliflozin
39 A Multicenter, Randomized, Double-Blind, Active Controlled, Parallel Group, Phase 3 Trial to Evaluate the Safety and Efficacy of Dapagliflozin 10 mg in Combination With Metformin as Initial Therapy as Compared With Dapagliflozin 10 mg Monotherapy and Metformin Monotherapy in Subjects With Type 2 Diabetes Who Have Inadequate Glycemic Control Completed NCT00859898 Phase 3 Dapagliflozin;Metformin XR;Metformin XR;dapagliflozin matching Placebo;metformin HCl Modified Release matching Placebo
40 A Multicenter, Phase 3, Randomized, Open-label, Active-controlled, Parallel-group Trial Investigating the Safety, Tolerability, and Efficacy of TransCon hGH Administered Once a Week Versus Standard Daily hGH Replacement Therapy Over 52 Weeks in Prepubertal Children With Growth Hormone Deficiency (GHD) Completed NCT02781727 Phase 3 Once weekly subcutaneous injection of TransCon hGH;Once daily subcutaneous injection of Genotropin
41 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Phase 3 Trial to Evaluate the Safety and Efficacy of Dapagliflozin in Subjects With Type 2 Diabetes With Inadequately Controlled Hypertension on an Angiotensin-Converting Enzyme (ACE) Inhibitor or Angiotensin Receptor Blocker (ARB) and an Additional Antihypertensive Medication Completed NCT01195662 Phase 3 Dapagliflozin;Placebo matching Dapagliflozin
42 Confirmatory Validation of Oral Macimorelin as a Growth Hormone (GH) Stimulation Test (ST) for the Diagnosis of Adult Growth Hormone Deficiency (AGHD) in Comparison With the Insulin Tolerance Test (ITT) Completed NCT02558829 Phase 3 Macimorelin;Insulin
43 A Phase III, Multicentric, Open-label, Randomised, Comparative, Parallel Group Study of (GHRH + Arginine) Combination Test vs. Insulin Tolerance Test (ITT) in the Diagnosis of Adult Growth Hormone Deficiency (AGHD) Completed NCT01060488 Phase 3
44 A Phase IIIb, Prospective, Multicenter, Randomized, Open-label Study to Determine the Safety and Efficacy of Two Different Dosing Regimens of Saizen® (Recombinant Human Growth Hormone (r-hGH), Using Cool.Click™ in Subjects With Childhood-onset Growth Hormone Deficiency During the Adolescent Transition Phase (CATS) Completed NCT00109733 Phase 3
45 Efficacy and Safety of CinnaGen Recombinant Human Growth Hormone (CinnaTropin®) in Comparison With Novo Nordisk Growth Hormone (Nordilet®) Product in Pre-Pubertal Children With Idiopathic Growth Hormone Deficiency (IGHD) Completed NCT03223025 Phase 3 CinnaTropin®;Nordilet®
46 A Multicenter, Randomized, Double-Blind, Phase 3b Trial to Evaluate the Efficacy and Safety of Saxagliptin Added to Insulin Monotherapy or to Insulin in Combination With Metformin in Chinese Subjects in China With Type 2 Diabetes Who Have Inadequate Glycaemic Control on Insulin Alone or on Insulin in Combination With Metformin Completed NCT02104804 Phase 3 Saxagliptin 5mg;Placebo for Saxagliptin
47 Efficacy and Safety of LY3298176 Once Weekly Versus Insulin Glargine in Patients With Type 2 Diabetes and Increased Cardiovascular Risk (SURPASS-4) Recruiting NCT03730662 Phase 3 Tirzepatide;Insulin Glargine
48 enliGHten: A Multicenter, Phase 3, Long-Term, Open-Label Trial Investigating Safety and Efficacy of TransCon hGH Administered Once-Weekly in Children With Growth Hormone Deficiency (GHD) Who Have Completed a Prior TransCon hGH Clinical Trial Recruiting NCT03344458 Phase 3 TransCon hGH
49 A Phase III Study of BBI-608 Plus Nab-Paclitaxel With Gemcitabine in Adult Patients With Metastatic Pancreatic Adenocarcinoma Active, not recruiting NCT02993731 Phase 3 Napabucasin;Nab-paclitaxel;Gemcitabine
50 A Phase 3, Multicenter, Open-label, Randomized Study of Nab-Paclitaxel Plus Gemcitabine Versus Gemcitabine Alone as Adjuvant Therapy in Subjects With Surgically Resected Pancreatic Adenocarcinoma Active, not recruiting NCT01964430 Phase 3 nab-Paclitaxel 125 mg/m2;gemcitabine 1000 mg/m2;gemcitabine 1000 mg/m2

Search NIH Clinical Center for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Cochrane evidence based reviews: endocrine system diseases

Genetic Tests for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Genetic tests related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

# Genetic test Affiliating Genes
1 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 29 RBM28

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

MalaCards organs/tissues related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

40
Testes, Bone, Skin, Brain, Heart, Pituitary, Thyroid

Publications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Articles related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

(show top 50) (show all 130)
# Title Authors PMID Year
1
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. 56 6
18439547 2008
2
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. 56
20231366 2010
3
Anticipated Negative Emotions Effect on Incident Involvement Among Civil Pilots. 61
31426892 2019
4
New binding modes for CSe: coinage metal coordination to a tungsten selenocarbonyl complex. 61
31372618 2019
5
Hemilabile bonding of 1-oxa-4,7-dithiacyclononane in cyclometallated palladium(ii) complexes. 61
31294426 2019
6
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Impact of spinal needle design and approach to postdural puncture headache and spinal anesthesia failure in obstetrics. 61
31268266 2019
12
A new neurostimulator guided technique of rectus sheath block: study of feasibility and local anesthetic spread in children. 61
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13
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26438493 2015

Variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

ClinVar genetic disease variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM28 NM_018077.3(RBM28):c.1052T>C (p.Leu351Pro)SNV Pathogenic 732 rs118204055 7:127970949-127970949 7:128330896-128330896

UniProtKB/Swiss-Prot genetic disease variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 RBM28 p.Leu351Pro VAR_045655 rs118204055

Expression for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Search GEO for disease gene expression data for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome.

Pathways for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Pathways related to Alopecia, Neurologic Defects, and Endocrinopathy Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008

GO Terms for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

Sources for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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
41 MedGen
43 MeSH
44 MESH via Orphanet
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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