ANES
MCID: ALP041
MIFTS: 51

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
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 Diseases 71

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 delayed skeletal maturation

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 13217)
# Related Disease Score Top Affiliating Genes
1 hair-an syndrome 12.4
2 rare hemorrhagic disorder due to an acquired platelet anomaly 12.3
3 hemophagocytic syndrome associated with an infection 12.2
4 rare hemorrhagic disorder due to an acquired coagulation factor defect 12.2
5 sickle cell disease associated with an other hemoglobin anomaly 12.2
6 silver-russell syndrome due to an imprinting defect of 11p15 12.2
7 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 12.2
8 sucking/swallowing disorder associated with an identified syndrome 12.1
9 rare thrombotic disorder due to an acquired platelet anomaly 12.1
10 rare thrombotic disorder due to an acquired coagulation factors defect 12.1
11 systemic inflammatory disease associated with an acquired peripheral neuropathy 12.1
12 hematological disease associated with an acquired peripheral neuropathy 12.1
13 solid tumor associated with an acquired peripheral neuropathy 12.1
14 rare female infertility due to an implantation defect 12.1
15 female infertility due to an implantation defect of genetic origin 12.1
16 rare female infertility due to an anomaly of ovarian function of genetic origin 12.1
17 rare female infertility due to an anomaly of ovarian function 12.1
18 rare female infertility due to an adrenal disorder 12.1
19 rare constitutional hemolytic anemia due to an enzyme disorder 12.1
20 congenital intestinal disease due to an enzymatic defect 12.1
21 schizophrenia 11.8
22 aniridia 1 11.8
23 acanthosis nigricans 11.8
24 anorexia nervosa 11.7
25 acute necrotizing encephalitis 11.7
26 schizophrenia 1 11.6
27 schizophrenia 3 11.6
28 schizophrenia 7 11.6
29 polydactyly, preaxial iii 11.6
30 schizophrenia 18 11.6
31 blood group--ahonen 11.6
32 encephalopathy, acute, infection-induced 4 11.4
33 schizophrenia 8 11.4
34 bile duct cystadenocarcinoma 11.4
35 schizophrenia 5 11.4
36 schizophrenia 9 11.4
37 systemic mastocytosis with associated hematologic neoplasm 11.4
38 schizophrenia 15 11.2
39 schizophrenia 19 11.2
40 aneurysm 11.2
41 diarrhea 11.1
42 migraine with or without aura 1 11.1
43 autoimmune disease 11.1
44 ataxia neuropathy spectrum 11.1
45 immunodeficiency due to a classical component pathway complement deficiency 11.1
46 aortic aneurysm 11.1
47 atrial fibrillation 11.1
48 down syndrome 11.1
49 stroke, ischemic 11.1
50 cardiac arrest 11.1

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 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
7 lipoatrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100578
8 motor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002333
9 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
10 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
11 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
12 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
13 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
14 hyperpigmented nevi 58 31 frequent (33%) Frequent (79-30%) HP:0007481
15 premature loss of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006480
16 growth hormone deficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000824
17 anterior pituitary hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0010627
18 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
19 decreased serum testosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0040171
20 adrenocorticotropin deficient adrenal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0011735
21 decreased serum insulin-like growth factor 1 58 31 frequent (33%) Frequent (79-30%) HP:0030353
22 motor neuron atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007373
23 ulnar deviation of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009487
24 abnormal response to acth stimulation test 58 31 frequent (33%) Frequent (79-30%) HP:0031074
25 hypogonadotropic hypogonadism 31 frequent (33%) HP:0000044
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 hypogonadotrophic hypogonadism 58 Frequent (79-30%)
33 upper motor neuron dysfunction 31 HP:0002493
34 hypogonadism 31 HP:0000135
35 adrenal insufficiency 31 HP:0000846
36 prolactin deficiency 58 Occasional (29-5%)
37 central adrenal insufficiency 31 HP:0011734
38 reduced subcutaneous adipose tissue 31 HP:0003758
39 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

Head And Neck Head:
decreased head circumference

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

Endocrine Features:
central adrenal insufficiency
hypogonadotropic hypogonadism
low testosterone levels
absent or delayed puberty
low insulin-like growth factor-1 (igf1) concentration
more
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 219)
# 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
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
9
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
11 Insulin degludec, insulin aspart drug combination Phase 4
12 Insulin, Long-Acting Phase 4
13 Antidepressive Agents Phase 4
14 Hydrocortisone 17-butyrate 21-propionate Phase 4
15 Hydrocortisone hemisuccinate Phase 4
16 Antimetabolites Phase 4
17 Epinephryl borate Phase 4
18 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
19 Serotonin Uptake Inhibitors Phase 4
20 Hypoglycemic Agents Phase 4
21 Sodium-Glucose Transporter 2 Inhibitors Phase 4
22 5-(4-chloro-3-(4-ethoxybenzyl)phenyl)-1-hydroxymethyl-6,8-dioxabicyclo(3.2.1)... Phase 4
23
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
24
Metformin Approved Phase 3 657-24-9 14219 4091
25
Zinc Approved, Investigational Phase 3 7440-66-6 32051
26
Glimepiride Approved Phase 3 93479-97-1 3476
27
Saxagliptin Approved Phase 3 361442-04-8 11243969
28
Acarbose Approved, Investigational Phase 3 56180-94-0 441184
29
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
30
Glucagon Approved Phase 3 16941-32-5
31
Dulaglutide Approved, Investigational Phase 3 923950-08-7
32
Calcium carbonate Approved, Investigational Phase 3 471-34-1
33
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
34
Linagliptin Approved Phase 3 668270-12-0 10096344
35
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
36 Nutmeg Approved Phase 3
37
Bupropion Approved Phase 3 34911-55-2, 34841-39-9 444
38
tannic acid Approved Phase 3 1401-55-4
39
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
40
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
41
gastric inhibitory polypeptide Investigational Phase 3 100040-31-1
42 Antihypertensive Agents Phase 3
43 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 3
44 Insulin, Short-Acting Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Sitagliptin Phosphate Phase 3
47 Angiotensin Receptor Antagonists Phase 3
48 Angiotensin-Converting Enzyme Inhibitors Phase 3
49 Growth Hormone-Releasing Hormone Phase 3
50 Glucagon-Like Peptide 1 Phase 3

Interventional clinical trials:

(show top 50) (show all 251)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 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
15 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
16 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
17 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
18 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
19 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
20 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
21 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
22 Randomized Controlled Trial Comparing the Metabolic Efficiency of Allogeneic Pancreatic Islet Transplantation to Intensive Insulin Therapy for the Treatment of Type 1 Diabetes Completed NCT01148680 Phase 3
23 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
24 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
25 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
26 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
27 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 %
28 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
29 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
30 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
31 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
32 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
33 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
34 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
35 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
36 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
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 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
39 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
40 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
41 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
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 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®
45 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
46 A Phase 3, Open-Label, Randomized, Multicenter, 12-month, Efficacy and Safety Study of Weekly MOD-4023 Compared to Daily Genotropin® Therapy in Japanese Pre-pubertal Children With Growth Hormone Deficiency Completed NCT03874013 Phase 3 MOD-4023;Genotropin
47 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
48 The Effect of Tirzepatide Versus Dulaglutide on Major Adverse Cardiovascular Events in Patients With Type 2 Diabetes (SURPASS-CVOT) Recruiting NCT04255433 Phase 3 Tirzepatide;Dulaglutide
49 The Efficacy, Safety and Tolerability of TransCon hGH Administered Weekly Versus Daily hGH in Prepubertal Children With Growth Hormone Deficiency: a Randomized, Open-lable, Active-controlled, Parallel-group Study in China Recruiting NCT04326374 Phase 3 TransCon hGH;daily hGH
50 Efficacy and Safety of LY3298176 Once Weekly Versus Insulin Glargine in Patients With Type 2 Diabetes and Increased Cardiovascular Risk (SURPASS-4) Active, not recruiting NCT03730662 Phase 3 Tirzepatide;Insulin Glargine

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

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 132)
# 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
First Reported Cochlear Implantation in a Child with Total Artificial Heart. 61
32281525 2020
4
Aggregate Impact of Anomalous Noise Events on the WASN-Based Computation of Road Traffic Noise Levels in Urban and Suburban Environments. 61
31979126 2020
5
Anticipated Negative Emotions Effect on Incident Involvement Among Civil Pilots. 61
31426892 2019
6
New binding modes for CSe: coinage metal coordination to a tungsten selenocarbonyl complex. 61
31372618 2019
7
Hemilabile bonding of 1-oxa-4,7-dithiacyclononane in cyclometallated palladium(ii) complexes. 61
31294426 2019
8
MAPK inhibition and growth hormone: a promising therapy in XLH. 61
30974062 2019
9
Acute Neurologic Injury in Children Admitted to the Cardiac Intensive Care Unit. 61
30682351 2019
10
A WASN-Based Suburban Dataset for Anomalous Noise Event Detection on Dynamic Road-Traffic Noise Mapping. 61
31151261 2019
11
Alleviating the nurse faculty shortage: designating and preparing the academic nurse educator as an advanced practice registered nurse. 61
30380167 2019
12
Network Effects in Blau Space: Imputing Social Context from Survey Data. 61
31482131 2019
13
Impact of spinal needle design and approach to postdural puncture headache and spinal anesthesia failure in obstetrics. 61
31268266 2019
14
A new neurostimulator guided technique of rectus sheath block: study of feasibility and local anesthetic spread in children. 61
31268267 2019
15
Ascophyllum nodosum extract biostimulants and their role in enhancing tolerance to drought stress in tomato plants. 61
29501894 2018
16
Addition of dithi(ol)anylium tetrafluoroborates to α,β-unsaturated ketones. 61
29623112 2018
17
Combined Enteral and Parenteral Glutamine Supplementation in Endotoxemic Swine: Effects on Portal and Systemic Circulation Levels. 61
30184534 2018
18
Anesthetic Implications of Superior Vena Cava Syndrome in Interventional Radiology: A Case Report. 61
31573505 2017
19
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29295492 2017
20
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26855341 2017
21
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22
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28634387 2017
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Reversible mechanical protection: building a 3D "suit" around a T-shaped benzimidazole axle. 61
28626559 2017
24
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30382642 2017
25
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30382636 2017
26
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27
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28
Effectively explore metastable states of proteins by adaptive nonequilibrium driving simulations. 61
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29
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30380273 2017
31
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30380257 2017
32
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30380267 2017
33
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34
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30351803 2016
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27419471 2016
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27767312 2016
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27711374 2016
39
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30358287 2016
40
Prospective, randomized, placebo-controlled trial evaluating the efficacy and safety of propofol sedation by anesthesiologists and gastroenterologist-led teams using computer-assisted personalized sedation during upper and lower gastrointestinal endoscopy. 61
27176122 2016
41
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30351601 2016
42
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30351587 2016
43
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30358319 2016
44
12th WINFOCUS world congress on ultrasound in emergency and critical care. 61
27604617 2016
45
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30358307 2016
46
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47
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48
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49
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27010818 2016

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.541+1deldeletion Pathogenic 802364 7:127978303-127978303 7:128338249-128338249
2 RBM28 NM_018077.3(RBM28):c.1052T>C (p.Leu351Pro)SNV Pathogenic 732 rs118204055 7:127970949-127970949 7:128330896-128330896
3 RBM28 NM_018077.3(RBM28):c.946G>T (p.Ala316Ser)SNV Likely pathogenic 802363 7:127975597-127975597 7:128335543-128335543

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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