COND
MCID: HTT002
MIFTS: 26

Hutterite Cerebroosteonephrodysplasia Syndrome (COND)

Categories: Rare diseases

Aliases & Classifications for Hutterite Cerebroosteonephrodysplasia Syndrome

MalaCards integrated aliases for Hutterite Cerebroosteonephrodysplasia Syndrome:

Name: Hutterite Cerebroosteonephrodysplasia Syndrome 56 52 71
Cerebroosteonephosis Syndrome 56 52
Cond 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hutterite cerebroosteonephrodysplasia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 236450
MedGen 41 C1856054
UMLS 71 C1856054

Summaries for Hutterite Cerebroosteonephrodysplasia Syndrome

MalaCards based summary : Hutterite Cerebroosteonephrodysplasia Syndrome, also known as cerebroosteonephosis syndrome, is related to polyneuropathy and exophthalmos. The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and lung, and related phenotypes are short stature and feeding difficulties in infancy

More information from OMIM: 236450

Related Diseases for Hutterite Cerebroosteonephrodysplasia Syndrome

Diseases related to Hutterite Cerebroosteonephrodysplasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 polyneuropathy 10.2
2 exophthalmos 10.2
3 depression 10.2

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:

56
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

Drugs & Therapeutics for Hutterite Cerebroosteonephrodysplasia Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
2 Vaccines Phase 4
3 Immunologic Factors Phase 4
4
Vinblastine Approved Phase 1, Phase 2 865-21-4 241903 13342
5 Tubulin Modulators Phase 1, Phase 2
6 Antimitotic Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenetic Justification and Clinical and Immunological Efficiency of Application Bacterial Vaccines at Adult Patients With Bronchopulmonary Pathology Completed NCT02787863 Phase 4
2 Target-specific Therapy With Pazopanib as Add-on to Vinflunine in Patients With Advanced or Metastatic Urothelial Carcinoma of the Bladder After Failure of Platinum-based Treatment Completed NCT01265940 Phase 1, Phase 2 Pazopanib as add-on to vinflunine

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
Testes, Heart, Lung, Brain, Bone, Skeletal Muscle, Kidney

Publications for Hutterite Cerebroosteonephrodysplasia Syndrome

Articles related to Hutterite Cerebroosteonephrodysplasia Syndrome:

(show top 50) (show all 2454)
# Title Authors PMID Year
1
Further delineation of cerebro-osteo-nephrosis syndrome. 56
9375716 1997
2
A further case of Hutterite cerebro-osteo-nephrodysplasia. 56
9375717 1997
3
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana. 56
4061488 1985
4
Lung compartment analysis assessed from N2 multiple-breath washout in children with cystic fibrosis. 61
32297698 2020
5
Mediterranean diet intervention in overweight and obese subjects lowers plasma cholesterol and causes changes in the gut microbiome and metabolome independently of energy intake. 61
32075887 2020
6
A Common Missense Variant in OMA1 Associated with the Prognosis of Heart Failure. 61
32236861 2020
7
Effects of Different Resistance Training Loads on the Muscle Quality Index in Older Women. 61
32569120 2020
8
A-Mode Ultrasound Reliability in Fat and Muscle Thickness Measurement. 61
32569121 2020
9
Elevating the Noninvolved Limb Reduces Knee Extensor Asymmetry During Squat Exercise in Persons With Reconstructed Anterior Cruciate Ligament. 61
32541617 2020
10
Muscle Power Predicts Bone Strength in Division II Athletes. 61
28859012 2020
11
Footwear and Sex Differences in Performance and Joint Kinetics During Maximal Vertical Jumping. 61
29979276 2020
12
Training Prescription Guided by Heart Rate Variability Vs. Block Periodization in Well-Trained Cyclists. 61
31490431 2020
13
Effects of Different Plyometric Training Frequencies on Measures of Athletic Performance in Prepuberal Male Soccer Players. 61
32453304 2020
14
The Influence of Biological Maturity and Competitive Level on Isometric Force-Time Curve Variables and Vaulting Performance in Young Female Gymnasts. 61
32569118 2020
15
Between-Sex Differences in the Work Sample Test Battery Performed by Law Enforcement Recruits: Implications for Training and Potential Job Performance. 61
32569119 2020
16
Muscle Forces During the Squat, Split Squat, and Step-Up Across a Range of External Loads in College-Aged Men. 61
32569122 2020
17
Kinetic and Electromyographic Responses to Traditional and Assisted Nordic Hamstring Exercise. 61
32569123 2020
18
Relative Age Effect in Russian Elite Hockey. 61
32569124 2020
19
Effects of Multi-ingredient Preworkout Supplements on Physical Performance, Cognitive Performance, Mood State, and Hormone Concentrations in Recreationally Active Men and Women. 61
32569125 2020
20
Effect of Caffeine on Endurance Performance in Athletes May Depend on HTR2A and CYP1A2 Genotypes. 61
32569126 2020
21
Resistance Training Volume Enhances Muscle Hypertrophy, but Not Strength in Postmenopausal Women: A Randomized Controlled Trial. 61
32569127 2020
22
Examining the Influence of Attentional Focus on the Effects of a Neuromuscular Training Program in Male Athletes. 61
32569128 2020
23
Accentuated Eccentric Loading and Cluster Set Configurations in the Bench Press. 61
32569129 2020
24
Effect of Traditional, Cluster, and Rest Redistribution Set Configurations on Neuromuscular and Perceptual Responses During Strength-Oriented Resistance Training. 61
32569130 2020
25
A Comparison of Bilateral vs. Unilateral-Biased Strength and Power Training Interventions on Measures of Physical Performance in Elite Youth Soccer Players. 61
32541618 2020
26
The Effect of Different Rest Intervals Between Agonist-Antagonist Paired Sets on Training Performance and Efficiency. 61
32541619 2020
27
Positional Analysis of Body Composition Using Dual-Energy X-Ray Absorptiometry in National Collegiate Athletic Association Division I Football and Men's Lacrosse. 61
32501891 2020
28
Mechanical, Metabolic, and Perceptual Acute Responses to Different Set Configurations in Full Squat. 61
28700515 2020
29
Comparison of the Force-, Velocity-, and Power-Time Curves Between the Concentric-Only and Eccentric-Concentric Bench Press Exercises. 61
29351163 2020
30
Post Activation Potentiation and Concentric Contraction Performance: Effects on Rate of Torque Development, Neuromuscular Efficiency, and Tensile Properties. 61
29373430 2020
31
Wingate Anaerobic Test Reliability on the Velotron With Ice Hockey Players. 61
29385006 2020
32
Acceleration Profile of Elite Gaelic Football With Special Reference to Position of Play. 61
29401196 2020
33
Cardiac-Autonomic Responses to In-Season Training Among Division-1 College Football Players. 61
29461413 2020
34
Dynamic Balance Evaluation: Reliability and Validity of a Computerized Wobble Board. 61
29481451 2020
35
Cardiopulmonary Demand of 16-kg Kettlebell Snatches in Simulated Girevoy Sport. 61
29781941 2020
36
Agreement Between Bioelectrical Impedance and Dual-Energy X-Ray Absorptiometry to Track Changes in Fat-Free Mass After Resistance Training in Older Women. 61
29794894 2020
37
Association of Compartmental Leg Lean Mass Measured by Dual X-Ray Absorptiometry With Force Production. 61
29878983 2020
38
Caffeine's Effects on an Upper-Body Resistance Exercise Workout. 61
29933355 2020
39
Anthropometric and Physiological Characteristics of Elite Male Rugby Athletes. 61
30138238 2020
40
Body Composition Assessment in Male and Female Bodybuilders: A 4-Compartment Model Comparison of Dual-Energy X-Ray Absorptiometry and Impedance-Based Devices. 61
30161092 2020
41
Waist Circumference and Waist-to-Hip Ratio in Law Enforcement Agency Recruits: Relationship to Performance in Physical Fitness Tests. 61
30204656 2020
42
Effects of Two Different Tapering Protocols on Fitness and Physical Match Performance in Elite Junior Soccer Players. 61
30239456 2020
43
Power-Force-Velocity Profiling of Sprinting Athletes: Methodological and Practical Considerations When Using Timing Gates. 61
30273283 2020
44
Comparison of Plyometric Training With Two Different Jumping Techniques on Achilles Tendon Properties and Jump Performances. 61
32271290 2020
45
Modulation of Countermovement Jump-Derived Markers of Neuromuscular Function With Concurrent vs. Single-Mode Resistance Training. 61
32282529 2020
46
Match-Play Temporal and Position-Specific Physical and Physiological Demands of Senior Hurlers. 61
30676391 2020
47
Dietary Intake and Energy Expenditure During Two Different Phases of Athletic Training in Female Collegiate Lacrosse Players. 61
31453933 2020
48
The Running and Technical Performance of U13 to U18 Elite Japanese Soccer Players During Match Play. 61
31498224 2020
49
Criterion Validity, and Interunit and Between-Day Reliability of the FLEX for Measuring Barbell Velocity During Commonly Used Resistance Training Exercises. 61
32459410 2020
50
The Effect of Overreaching on Neuromuscular Performance and Wellness Responses in Australian Rules Football Athletes. 61
32459411 2020

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
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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