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ANES
MCID: ALP041
MIFTS: 49

Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (ANES)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section

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

Name: Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 57 74 29 13 6 40 72
Ane Syndrome 57 59 74
Endocrine System Diseases 44 72
Anes 57 74
Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome 59
Alopecia-Progressive Neurological Defect-Endocrinopathy 74
Alopecia Neurologic Defects and Endocrinopathy Syndrome 37
Endocrine System Disease 17

Characteristics:

Orphanet epidemiological data:

59
ane syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
alopecia, neurologic defects, and endocrinopathy syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Reproductive diseases Skin diseases Endocrine diseases Mental diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare skin diseases
Rare endocrine diseases


External Ids:

OMIM 57 612079
KEGG 37 H00621
UMLS via Orphanet 73 C2677535
Orphanet 59 ORPHA157954
MedGen 42 C2677535
UMLS 72 C0014130 C2677535
Sources

Summaries for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section
KEGG : 37
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 pituitary, and related phenotypes are intellectual disability and hyperpigmented nevi

UniProtKB/Swiss-Prot : 74 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
Sources

Related Diseases for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

(show top 50) (show all 13090)
# 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 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.2
6 rare hemorrhagic disorder due to an acquired coagulation factor defect 12.1
7 sickle cell disease associated with an other hemoglobin anomaly 12.1
8 obsolete: common variable immunodeficiency due to an intrinsic b cell defect 12.1
9 hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 12.1
10 obsolete: common variable immunodeficiency due to an intrinsic t cell defect 12.1
11 sucking/swallowing disorder associated with an identified syndrome 12.0
12 particular clinical situation or non rare disorder with an orphan designation 12.0
13 rare thrombotic disorder due to an acquired platelet anomaly 12.0
14 rare thrombotic disorder due to an acquired coagulation factors defect 12.0
15 systemic inflammatory disease associated with an acquired peripheral neuropathy 12.0
16 hematological disease associated with an acquired peripheral neuropathy 12.0
17 solid tumor associated with an acquired peripheral neuropathy 12.0
18 silver-russell syndrome due to an imprinting defect of 11p15 12.0
19 obsolete: polydactyly of an index finger, unilateral 12.0
20 obsolete: polydactyly of an index finger, bilateral 12.0
21 rare female infertility due to an implantation defect 12.0
22 female infertility due to an implantation defect of genetic origin 12.0
23 rare female infertility due to an anomaly of ovarian function of genetic origin 12.0
24 rare female infertility due to an anomaly of ovarian function 12.0
25 rare female infertility due to an adrenal disorder 12.0
26 obsolete: channelopathy due to an inwardly rectifying potassium channel defect 12.0
27 obsolete: channelopathy due to an epithelial sodium channel defect 12.0
28 obsolete: pituitary deficiency secondary to an anevrysm 12.0
29 obsolete: spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly 12.0
30 obsolete: autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect 12.0
31 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection 12.0
32 obsolete: male infertility with normal virilization due to an acquired testicular defect 12.0
33 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with drug 12.0
34 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with radiation 12.0
35 obsolete: male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin 12.0
36 obsolete: male infertility with impaired virilization due to an hypothalamic or pituitary disorder 12.0
37 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity 12.0
38 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease 12.0
39 obsolete: male infertility with impaired virilization due to a testicular disorder associated with an immune disorder 12.0
40 obsolete: male infertility with impaired virilization due to an acquired testicular defect 12.0
41 obsolete: male infertility with impaired virilization due to an acquired testicular defect drug-related 12.0
42 obsolete: male infertility with impaired virilization due to an acquired testicular defect associated with trauma 12.0
43 rare constitutional hemolytic anemia due to an enzyme disorder 12.0
44 congenital intestinal disease due to an enzymatic defect 12.0
45 schizophrenia 11.8
46 aniridia 1 11.8
47 acanthosis nigricans 11.7
48 anorexia nervosa 11.7
49 acute necrotizing encephalopathy 11.6
50 schizophrenia 1 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
Sources

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

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

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 hyperpigmented nevi 59 32 frequent (33%) Frequent (79-30%) HP:0007481
3 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
4 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
8 lipoatrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100578
9 motor deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0002333
10 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
11 hypogonadotrophic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000044
12 kyphoscoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002751
13 multiple joint contractures 59 32 frequent (33%) Frequent (79-30%) HP:0002828
14 decreased serum testosterone level 59 32 frequent (33%) Frequent (79-30%) HP:0040171
15 motor neuron atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007373
16 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
17 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
18 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
19 premature loss of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006480
20 adrenocorticotropin deficient adrenal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0011735
21 growth hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000824
22 decreased serum insulin-like growth factor 1 59 32 frequent (33%) Frequent (79-30%) HP:0030353
23 ulnar deviation of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009487
24 anterior pituitary hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0010627
25 abnormal response to acth stimulation test 59 32 frequent (33%) Frequent (79-30%) HP:0031074
26 generalized amyotrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003700
27 pituitary hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0008245
28 prolactin deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0008202
29 flexion contracture 32 HP:0001371
30 skeletal muscle atrophy 32 HP:0003202
31 melanocytic nevus 32 HP:0000995
32 hypogonadism 32 HP:0000135
33 upper motor neuron dysfunction 32 HP:0002493
34 adrenal insufficiency 32 HP:0000846
35 central adrenal insufficiency 32 HP:0011734
36 reduced subcutaneous adipose tissue 32 HP:0003758
37 ulnar deviation of the hand or of fingers of the hand 32 HP:0001193

Symptoms via clinical synopsis from OMIM:

57
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
Sources

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

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

(show top 50) (show all 273)
# 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 acetate Approved, Vet_approved Phase 4 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
5
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
Norepinephrine Approved Phase 4 51-41-2 439260
10
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
11 Insulin, Long-Acting Phase 4
12 Insulin degludec, insulin aspart drug combination Phase 4
13 Antidepressive Agents Phase 4
14 Psychotropic Drugs Phase 4
15 Hormones Phase 4
16 Hormone Antagonists Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18 Gastrointestinal Agents Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Hydrocortisone hemisuccinate Phase 4
21 Hydrocortisone 17-butyrate 21-propionate Phase 4
22 Antineoplastic Agents, Hormonal Phase 4
23 Neurotransmitter Agents Phase 4
24 Antimetabolites Phase 4
25 HIV Protease Inhibitors Phase 4
26
protease inhibitors Phase 4
27 Sympathomimetics Phase 4
28 Adrenergic Agonists Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Peripheral Nervous System Agents Phase 4
31 Adrenergic Agents Phase 4
32 Epinephryl borate Phase 4
33 Vasoconstrictor Agents Phase 4
34 Autonomic Agents Phase 4
35 Neurotransmitter Uptake Inhibitors Phase 4
36 glucocorticoids Phase 4
37 Serotonin Uptake Inhibitors Phase 4
38 Antiemetics Phase 4
39 Serotonin Receptor Agonists Phase 4
40 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
41 Serotonin Agents Phase 4
42 BB 1101 Phase 4
43
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
44
Metformin Approved Phase 3 657-24-9 4091 14219
45
Glimepiride Approved Phase 3 93479-97-1 3476
46
Acarbose Approved, Investigational Phase 3 56180-94-0 441184
47
Saxagliptin Approved Phase 3 361442-04-8 11243969
48
Calcium carbonate Approved, Investigational Phase 3 471-34-1
49
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
50
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251

Interventional clinical trials:

(show top 50) (show all 288)
# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 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 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
4 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
5 A Multicentre Study on the Capacity of the IGF-1 Stimulation Test to Predict the Growth Promoting Effect of Standard and High Doses of Genotonorm® in Prepubertal Children With Growth Hormone Deficiency. Completed NCT00145457 Phase 4
6 An Open, Multi-centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin® SimpleXx® in Children With GH Deficiency Completed NCT00567385 Phase 4 somatropin
7 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®)
8 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
9 A Phase IV, Multicenter, Open-Label Study of the Immunogenicity of Nutropin AQ® V1.1 [Somatropin (rDNA Origin) Injection] Administered Daily to Naïve Growth Hormone-Deficient Children (iSTUDY) Completed NCT02311894 Phase 4 Somatropin
10 Study to Compare Injection Anxiety Immediately Before the Administration of Each Dose of Tev-Tropin® Between a Needle-syringe Injection Method and a Needle-free Injection Method in Pediatric Subjects With Human Growth Hormone Deficiency Completed NCT00990340 Phase 4
11 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
12 Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Completed NCT00957671 Phase 4 Recombinant human growth hormone
13 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
14 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
15 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
16 Effects of Treatment With Human Growth Hormone on Insulin Resistance and Insulin Secretion in Adults With Growth Hormone Deficiency Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
17 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in GHD Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
18 Effects of the Addition of Metyrapone to Antidepressant Therapy in Depression With Dexamethasone Suppression Test Non-suppression. Recruiting NCT03491696 Phase 4 Metyrapone
19 Effects of Long-term L-thyroxine Replacement on Serum Lipid and Atherosclerosis in Patients With Hypothyroidism Active, not recruiting NCT01848171 Phase 4 L-thyroxine
20 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
21 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
22 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
23 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
24 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
25 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
26 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
27 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
28 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
29 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
30 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
31 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
32 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
33 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexxâ„¢ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
34 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
35 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
36 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
37 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
38 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
39 A Follow-up Study to Examine the Presence of Anti-human Growth Hormone Antibodies Following a Randomised, Open-label, Parallel-group, Multi-centre Trial (FE 999905 CS07) in Which the Efficacy and Safety of 12 Months' Treatment With One Daily Dose of ZOMACTON Were Compared to One Daily Dose of GENOTROPIN Completed NCT02173821 Phase 3
40 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
41 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
42 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 %
43 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
44 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
45 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
46 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
47 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
48 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
49 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
50 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

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

Cochrane evidence based reviews: endocrine system diseases

Sources

Genetic Tests for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section

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

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

Anatomical Context for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section

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

41
Testes, Bone, Pituitary, Skin, Brain, Thyroid, Heart
Sources

Publications for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section

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

(show top 50) (show all 128)
# Title Authors PMID Year
1
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. 8 71
18439547 2008
2
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. 8
20231366 2010
3
Anticipated Negative Emotions Effect on Incident Involvement Among Civil Pilots. 38
31426892 2019
4
New binding modes for CSe: coinage metal coordination to a tungsten selenocarbonyl complex. 38
31372618 2019
5
Hemilabile bonding of 1-oxa-4,7-dithiacyclononane in cyclometallated palladium(ii) complexes. 38
31294426 2019
6
MAPK inhibition and growth hormone: a promising therapy in XLH. 38
30974062 2019
7
Acute Neurologic Injury in Children Admitted to the Cardiac Intensive Care Unit. 38
30682351 2019
8
A WASN-Based Suburban Dataset for Anomalous Noise Event Detection on Dynamic Road-Traffic Noise Mapping. 38
31151261 2019
9
Alleviating the nurse faculty shortage: designating and preparing the academic nurse educator as an advanced practice registered nurse. 38
30380167 2019
10
Impact of spinal needle design and approach to postdural puncture headache and spinal anesthesia failure in obstetrics. 38
31268266 2019
11
A new neurostimulator guided technique of rectus sheath block: study of feasibility and local anesthetic spread in children. 38
31268267 2019
12
Ascophyllum nodosum extract biostimulants and their role in enhancing tolerance to drought stress in tomato plants. 38
29501894 2018
13
Combined Enteral and Parenteral Glutamine Supplementation in Endotoxemic Swine: Effects on Portal and Systemic Circulation Levels. 38
30184534 2018
14
Addition of dithi(ol)anylium tetrafluoroborates to α,β-unsaturated ketones. 38
29623112 2018
15
On the Impact of Anomalous Noise Events on Road Traffic Noise Mapping in Urban and Suburban Environments. 38
29295492 2017
16
Development of Pediatric Neurologic Emergency Life Support Course: A Preliminary Report. 38
26855341 2017
17
Ultrastructural study of the neural microcircuits in the sensory epithelium of the paratympanic organ of the chicken. 38
28715600 2017
18
Quasiparticle and optical properties of strained stanene and stanane. 38
28634387 2017
19
Reversible mechanical protection: building a 3D "suit" around a T-shaped benzimidazole axle. 38
28626559 2017
20
[General Anesthesia for Septal Myectomy in a Patient with Noonan Syndrome, Severe Hypertrophic Obstructive Cardiomyopathy and Right Ventricular Outflow Tract Obstruction]. 38
30382642 2017
21
[Risk Factors for the Postsurgical Hoarseness Contribution of the Intubation Device]. 38
30382636 2017
22
[A Case of Rocuronium-induced Anaphylaxis in a Man with Kounis Syndrome in which Basophil Activation Test was Valuable in Determining the Causative Agent]. 38
30382647 2017
23
[A Perspective View on Peripheral Nerve Block of the Future: Preface and Comments]. 38
30380212 2017
24
Effectively explore metastable states of proteins by adaptive nonequilibrium driving simulations. 38
28415335 2017
25
[Influence of Propofol and Remifentanil on Pupillary Light Reflex Assessed by a Hand-held Point-and-shoot Pupillometer]. 38
30380283 2017
26
[Successful Awake Intubation with Airway Scope? for a Difficult Airway Patient with Enormous Angioma Protruding out of the Mouth]. 38
30380273 2017
27
[A Case of Persistent Dysesthesia after Uneventful Spinal Anesthesia with Bupivacaine]. 38
30380257 2017
28
[History of Tracheal Intubation: 1. First Application of Tracheal Intubation during General Anesthesia]. 38
30380267 2017
29
[Anesthesia and Anti-cancer Therapeutic Agents]. 38
30351801 2016
30
[Preoperatively Administered Drugs and Anesthetic Consideration for a Parturient Requiring Cesarean Section]. 38
30351803 2016
31
Adverse neuropsychological effects associated with cumulative doses of corticosteroids to treat childhood acute lymphoblastic leukemia: A literature review. 38
27823641 2016
32
Clinical effect of ablative fractional laser-assisted topical anesthesia on human skin: A randomized pilot study. 38
27419471 2016
33
Tuning the Luminescent Properties of a Ag/Au Tetranuclear Complex Featuring Metallophilic Interactions via Solvent-Dependent Structural Isomerization. 38
27767312 2016
34
Metal ion-modulated self-assembly of pseudo-suit[3]anes using crown ether-based terpyridine metalloprisms. 38
27711374 2016
35
[Blood Transfusion in a Patient with Severe Anemia and Immunoglobulin A Deficiency during an Emergency Total Hysterectomy on a Holiday]. 38
30358287 2016
36
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. 38
27176122 2016
37
[Refractory Hypotension Induced by Continuous Phonation during Spinal Anesthesia in a Patient Suffering from Severe Aortic Stenosis.] 38
30351601 2016
38
[Laparoscopi Surgery and Anesthetic Management for Infants and Children]. 38
30358319 2016
39
[Effect of Preoperative Oral Rehydration on the Hypotension during Spinal Anesthesia.] 38
30351587 2016
40
12th WINFOCUS world congress on ultrasound in emergency and critical care. 38
27604617 2016
41
[Satisfactory Sedation for a Morbidly Obese Woman by Dexmedetomidine Dosed on the Basis of Total Body Weight under Spinal Anesthesia ; A Case Report]. 38
30358307 2016
42
[The Effectiveness of Two Anesthesia Machines in the Water Generation of the Anesthesia Circuit during the Prolonged Low Flow Desflurane Anesthesia]. 38
30358309 2016
43
[A Multicenter Questionnaire Survey of Postoperative Delirium -National Hospital Organization, Surgery and Anesthesia Network Group-]. 38
30358310 2016
44
[A Trained-in-Japan Anesthesiologist Going Through Anesthesia Training in the United States : What Adjustments Should be Made for Upcoming Renewal in Anesthesia Board Certification in Japan?]. 38
30358312 2016
45
[Effect of Transcutaneous Acupoint Electrical Stimulation on Propofol Usage in Closed-loop Anes- thesia Delivery System in Pediatric Cardiac Surgery]. 38
30640984 2016
46
Comparative Transcriptome Analysis of Two Ascophyllum nodosum Extract Biostimulants: Same Seaweed but Different. 38
27010818 2016
47
Standards of anesthesiology practice during neuroradiological interventions. 38
28352807 2016
48
Esters of Pyrazinoic Acid Are Active against Pyrazinamide-Resistant Strains of Mycobacterium tuberculosis and Other Naturally Resistant Mycobacteria In Vitro and Ex Vivo within Macrophages. 38
26438493 2015
49
QT interval correction assessment in the anesthetized guinea pig. 38
26001325 2015
50
Reflections of Evidence-Based Practice in Nurse Educators' Teaching Philosophy Statements. 38
29194132 2015
Sources

Variations for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RBM28 NM_018077.3(RBM28): c.1052T> C (p.Leu351Pro) single nucleotide variant Pathogenic rs118204055 7:127970949-127970949 7:128330896-128330896

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

74
# Symbol AA change Variation ID SNP ID
1 RBM28 p.Leu351Pro VAR_045655 rs118204055

Sources

Expression for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

Pathways for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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

37
# Name Kegg Source Accession
1 Ribosome biogenesis in eukaryotes hsa03008
Sources

GO Terms for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

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Sources

Sources for Alopecia, Neurologic Defects, and Endocrinopathy Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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