COND
MCID: HTT002
MIFTS: 25

Hutterite Cerebroosteonephrodysplasia Syndrome (COND)

Categories: Rare diseases

Aliases & Classifications for Hutterite Cerebroosteonephrodysplasia Syndrome

MalaCards integrated aliases for Hutterite Cerebroosteonephrodysplasia Syndrome:

Name: Hutterite Cerebroosteonephrodysplasia Syndrome 57 20 70
Cerebroosteonephosis Syndrome 57 20
Cond 57 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hutterite cerebroosteonephrodysplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 236450
MedGen 41 C1856054
UMLS 70 C1856054

Summaries for Hutterite Cerebroosteonephrodysplasia Syndrome

MalaCards based summary : Hutterite Cerebroosteonephrodysplasia Syndrome, is also known as cerebroosteonephosis syndrome. The drugs Misoprostol and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and bone, and related phenotypes are short stature and feeding difficulties in infancy

More information from OMIM: 236450

Related Diseases for Hutterite Cerebroosteonephrodysplasia Syndrome

Symptoms & Phenotypes for Hutterite Cerebroosteonephrodysplasia Syndrome

Human phenotypes related to Hutterite Cerebroosteonephrodysplasia Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 feeding difficulties in infancy 31 HP:0008872
3 intellectual disability, severe 31 HP:0010864
4 nephrotic syndrome 31 HP:0000100

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
severe mental retardation
normal prenatal brain growth
later decelerated brain growth
decorticate neurological function

G U:
terminal nephrotic syndrome

Growth:
feeding problems
congenital shortness
mild spondylorhizomelic dwarfism

Clinical features from OMIM®:

236450 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hutterite Cerebroosteonephrodysplasia Syndrome

Drugs for Hutterite Cerebroosteonephrodysplasia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Misoprostol Approved Phase 3 59122-46-2 5282381
2
Tranexamic Acid Approved Phase 3 1197-18-8 5526
3 Gastrointestinal Agents Phase 3
4 Anesthetics Phase 3
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Anti-Ulcer Agents Phase 3
9 Antacids Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Pre-operative Intravenous Tranexamic Acid Versus Rectal Misoprostol in Reducing Blood Loss During and After Elective Cesarean Section in Primigravida: A Double-blinded, Randomized, Controlled Trial Recruiting NCT04635007 Phase 3 Tranexamic acid;Misoprostol 200mcg Tab

Search NIH Clinical Center for Hutterite Cerebroosteonephrodysplasia Syndrome

Genetic Tests for Hutterite Cerebroosteonephrodysplasia Syndrome

Anatomical Context for Hutterite Cerebroosteonephrodysplasia Syndrome

MalaCards organs/tissues related to Hutterite Cerebroosteonephrodysplasia Syndrome:

40
Heart, Brain, Bone, Lung, Skeletal Muscle, Breast, Skin

Publications for Hutterite Cerebroosteonephrodysplasia Syndrome

Articles related to Hutterite Cerebroosteonephrodysplasia Syndrome:

(show top 50) (show all 2888)
# Title Authors PMID Year
1
A further case of Hutterite cerebro-osteo-nephrodysplasia. 57
9375717 1997
2
Further delineation of cerebro-osteo-nephrosis syndrome. 57
9375716 1997
3
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. 57
4061488 1985
4
Influence of Perceptions of Sleep on Well-Being in Youth Athletes. 61
30358699 2021
5
Shoulder Flexion Torque Is Augmented by a Volitional Abdominal Isometric Contraction. 61
31490428 2021
6
Analysis of a Submaximal Cycle Test to Monitor Adaptations to Training: Implications for Optimizing Training Prescription. 61
31373984 2021
7
Use of Gloves to Examine Intermittent Palm Cooling's Impact on Rowing Ergometry. 61
33629973 2021
8
The Influence of Mental Fatigue on Sessional Ratings of Perceived Exertion in Elite Open and Closed Skill Sports Athletes. 61
33752221 2021
9
Effects of a Strength-Dominated Exercise Program on Physical Fitness and Cognitive Performance in Preschool Children. 61
33752222 2021
10
Relationship Between Heart Rate Variability and Acute:Chronic Load Ratio Throughout a Season in NCAA D1 Men's Soccer Players. 61
30289866 2021
11
Effect of Velocity-Based Loading on Acceleration Kinetics and Kinematics During Sled Towing. 61
30299389 2021
12
A Novel Approach for Athlete Profiling: The Unilateral Dynamic Strength Index. 61
30299390 2021
13
Competition-Based Heart Rate, Training Load, and Time Played Above 85% Peak Heart Rate in NCAA Division I Women's Basketball. 61
30299392 2021
14
Oral Contraceptives Do Not Affect Physiological Responses to Strength Exercise. 61
33555830 2021
15
Acute Effects of Match-Play on Neuromuscular and Subjective Recovery and Stress State in Division I Collegiate Female Soccer Players. 61
33555825 2021
16
The Physical Parameters of Tactical Climbing and Performance Characteristics of Naval Special Warfare Operators. 61
33555828 2021
17
Competition Volume and Changes in Countermovement Jump Biomechanics and Motor Signatures in Female Collegiate Volleyball Players. 61
33555829 2021
18
Relationship Between Maximal Dynamic Force in the Deep Back Squat and Sprinting Performance in Consecutive Segments Up to 30 m. 61
30273292 2021
19
Seasonal Variation of Physical Performance and Inter-limb Asymmetry in Professional Cricket Athletes. 61
33752220 2021
20
Effects of 6-Month Military Deployment on Physical Fitness, Body Composition, and Selected Health-Related Biomarkers. 61
30829983 2021
21
Acute Hormonal Response to Kettlebell Swing Exercise Differs Depending on Load, Even When Total Work Is Normalized. 61
30273291 2021
22
Participation and Performance Trends in the ITU Duathlon World Championship From 2003 to 2017. 61
30363036 2021
23
Use of Individual Relative Thresholds to Assess Acceleration in Young Soccer Players According to Initial Speed. 61
30507732 2021
24
How to Serve Faster in Tennis: The Influence of an Altered Focus of Attention and Augmented Feedback on Service Speed in Elite Players. 61
30531414 2021
25
Effects of Resistance Training Performed to Failure or Not to Failure on Muscle Strength, Hypertrophy, and Power Output: A Systematic Review With Meta-Analysis. 61
33555822 2021
26
Fit to Teach?-Cardiorespiratory Capacity, Vitamin D3, and Ferritin in Physical Education Teachers With Specialization in Dance. 61
30273289 2021
27
Web-Based Exercise Program Increases Cervical Strength in Adolescent Athletes. 61
30335712 2021
28
Factors Associated With Self-Selected Step Rate in High School Cross Country Runners. 61
30335714 2021
29
Longitudinal Hydration Assessment in Collegiate Basketball Players Over Various Training Phases. 61
30272627 2021
30
Effects of 4, 8, and 12 Repetition Maximum Resistance Training Protocols on Muscle Volume and Strength. 61
32304514 2021
31
Effect of a Law Enforcement Academy Training Program on Validated Fitness Outcomes of Cadets. 61
33555831 2021
32
Can Injuries Be Predicted by Functional Movement Screen in Adolescents? The Application of Machine Learning. 61
33555832 2021
33
Hamstring Muscle Volume as an Indicator of Sprint Performance. 61
33555833 2021
34
Cardiovascular Effects of Compression Garments During Uncompensable Heat Stress. 61
30273282 2021
35
Oxygen Uptake Slow Component and the Efficiency of Resistance Exercises. 61
30335719 2021
36
Acute Effect of Drop-Set, Traditional, and Pyramidal Systems in Resistance Training on Neuromuscular Performance in Trained Adults. 61
31009435 2021
37
Progressive Workload Periodization Maximizes Effects of Nordic Hamstring Exercise on Muscle Injury Risk Factors. 61
30363038 2021
38
Spatial and temporal distribution of Mo in the overlying water of a reservoir downstream from mining area. 61
33637251 2021
39
Resistance Training to Failure vs. Not to Failure: Acute and Delayed Markers of Mechanical, Neuromuscular, and Biochemical Fatigue. 61
33306589 2021
40
Complexity of Knee Extensor Torque: Effect of Aging and Contraction Intensity. 61
30289867 2021
41
Pacing Profiles of Olympic and IAAF World Championship Long-Distance Runners. 61
30289868 2021
42
Training Load and Recovery in Volleyball During a Competitive Season. 61
30325790 2021
43
Sex Differences and Patterns of Muscle Stiffness in the Knee Flexor and Extensor Musculature Through Analysis of Isolated Bellies. 61
30273285 2021
44
Novel Assessment of Isometric Hip Extensor Function: Reliability, Joint Angle Sensitivity, and Concurrent Validity. 61
33795605 2021
45
The Effect of Anodal Transcranial Direct Current Stimulation on Quadriceps Maximal Voluntary Contraction, Corticospinal Excitability, and Voluntary Activation Levels. 61
33677460 2021
46
Training, Supplementation, and Pharmacological Practices of Competitive Male Bodybuilders Across Training Phases. 61
33651737 2021
47
Metabolic Adaptations to Weight Loss: A Brief Review. 61
33677461 2021
48
Acute Effects of Combining Dynamic Stretching and Vibration Foam Rolling Warm-up on Lower-Limb Muscle Performance and Functions in Female Handball Players. 61
33651738 2021
49
Comparison of Isolated Lumbar Extension Strength in Competitive and Noncompetitive Powerlifters, and Recreationally Trained Men. 61
29979273 2021
50
Influence of Constant Torque Stretching at Different Stretching Intensities on Flexibility and Mechanical Properties of Plantar Flexors. 61
30052602 2021

Variations for Hutterite Cerebroosteonephrodysplasia Syndrome

Expression for Hutterite Cerebroosteonephrodysplasia Syndrome

Search GEO for disease gene expression data for Hutterite Cerebroosteonephrodysplasia Syndrome.

Pathways for Hutterite Cerebroosteonephrodysplasia Syndrome

GO Terms for Hutterite Cerebroosteonephrodysplasia Syndrome

Sources for Hutterite Cerebroosteonephrodysplasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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