OBHD
MCID: OBS015
MIFTS: 35

Obesity, Hyperphagia, and Developmental Delay (OBHD)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Obesity, Hyperphagia, and Developmental Delay

MalaCards integrated aliases for Obesity, Hyperphagia, and Developmental Delay:

Name: Obesity, Hyperphagia, and Developmental Delay 57 72 29 13 6 70
Obhd 57 72
Obesity, Hyperphagia, Developmental Delay 39
Hyperphagia 44

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 3 unrelated patients (last curated january 2018)


HPO:

31
obesity, hyperphagia, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Obesity, Hyperphagia, and Developmental Delay

OMIM® : 57 OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017). (613886) (Updated 05-Apr-2021)

MalaCards based summary : Obesity, Hyperphagia, and Developmental Delay, also known as obhd, is related to leptin deficiency or dysfunction and leptin receptor deficiency. An important gene associated with Obesity, Hyperphagia, and Developmental Delay is NTRK2 (Neurotrophic Receptor Tyrosine Kinase 2). The drugs Octreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are delayed myelination and seizure

UniProtKB/Swiss-Prot : 72 Obesity, hyperphagia, and developmental delay: A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language.

Wikipedia : 73 Polyphagia or hyperphagia is an abnormally strong sensation of hunger or desire to eat often leading to... more...

Related Diseases for Obesity, Hyperphagia, and Developmental Delay

Diseases related to Obesity, Hyperphagia, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 11.3
2 leptin receptor deficiency 11.1
3 obesity, early-onset, with adrenal insufficiency and red hair 11.1
4 kleine-levin hibernation syndrome 11.1
5 prader-willi syndrome 11.0
6 body mass index quantitative trait locus 19 11.0
7 body mass index quantitative trait locus 20 10.9
8 hypotonia-cystinuria syndrome 10.9
9 body mass index quantitative trait locus 11 10.5
10 body mass index quantitative trait locus 9 10.5
11 body mass index quantitative trait locus 8 10.5
12 body mass index quantitative trait locus 4 10.5
13 body mass index quantitative trait locus 10 10.5
14 body mass index quantitative trait locus 7 10.5
15 body mass index quantitative trait locus 12 10.5
16 body mass index quantitative trait locus 14 10.5
17 body mass index quantitative trait locus 18 10.5
18 hyperinsulinism 10.5
19 hyperglycemia 10.4
20 glucose intolerance 10.3
21 hypothalamic obesity 10.2
22 non-alcoholic fatty liver disease 10.2
23 eating disorder 10.2
24 fatty liver disease, nonalcoholic 1 10.1
25 dementia 10.1
26 hypogonadism 10.1
27 lipid metabolism disorder 10.1
28 hypoglycemia 10.1
29 anorexia nervosa 10.0
30 craniopharyngioma 10.0
31 hypopituitarism 10.0
32 fatty liver disease 10.0
33 genetic obesity 10.0
34 anxiety 10.0
35 alacrima, achalasia, and mental retardation syndrome 10.0
36 overnutrition 10.0
37 hyperthyroidism 10.0
38 alzheimer disease 9.9
39 hypertriglyceridemia, familial 9.9
40 graves disease 1 9.9
41 body mass index quantitative trait locus 1 9.9
42 bulimia nervosa 9.9
43 non-alcoholic steatohepatitis 9.9
44 rapidly involuting congenital hemangioma 9.9
45 hypogonadotropic hypogonadism 9.9
46 short bowel syndrome 9.9
47 hydrocephalus 9.9
48 diphtheria 9.9
49 pica disease 9.9
50 hypothyroidism 9.9

Graphical network of the top 20 diseases related to Obesity, Hyperphagia, and Developmental Delay:



Diseases related to Obesity, Hyperphagia, and Developmental Delay

Symptoms & Phenotypes for Obesity, Hyperphagia, and Developmental Delay

Human phenotypes related to Obesity, Hyperphagia, and Developmental Delay:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed myelination 31 very rare (1%) HP:0012448
2 seizure 31 very rare (1%) HP:0001250
3 intellectual disability 31 HP:0001249
4 stereotypy 31 HP:0000733
5 obesity 31 HP:0001513
6 facial asymmetry 31 HP:0000324
7 severe global developmental delay 31 HP:0011344
8 poor eye contact 31 HP:0000817
9 polyphagia 31 HP:0002591

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
global developmental delay
seizures (in some patients)
delayed myelination (in some patients)
speech and language delays
more
Head And Neck Eyes:
poor eye contact

Abdomen Gastrointestinal:
hyperphagia

Head And Neck Face:
facial asymmetry (in 1 patient)

Skeletal Skull:
left coronal synostosis (in 1 patient)

Growth Weight:
obesity

Neurologic Behavioral Psychiatric Manifestations:
autistic behavior
aggressive outbursts
stereotyped behaviors
repetitive speech

Growth Height:
above-average height

Genitourinary Internal Genitalia Female:
streak ovaries (in 1 patient)
streak uterus (in 1 patient)

Clinical features from OMIM®:

613886 (Updated 05-Apr-2021)

Drugs & Therapeutics for Obesity, Hyperphagia, and Developmental Delay

Drugs for Obesity, Hyperphagia, and Developmental Delay (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 3 83150-76-9 6400441 383414
2
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
3 Antineoplastic Agents, Hormonal Phase 3
4 Gastrointestinal Agents Phase 3
5
Oxytocin Approved, Vet_approved Phase 2 50-56-6 53477758 439302
6 Analgesics, Opioid Phase 2
7
Prednisolone acetate Approved, Vet_approved 52-21-1
8
Methylprednisolone Approved, Vet_approved 83-43-2 6741
9
Prednisolone Approved, Vet_approved 50-24-8 5755
10
Methylprednisolone hemisuccinate Approved 2921-57-5
11
Prednisolone phosphate Approved, Vet_approved 302-25-0
12 Tomato Approved
13
Nicotine Approved 54-11-5 942 89594
14
Prednisolone hemisuccinate Experimental 2920-86-7
15 Protective Agents
16 Methylprednisolone Acetate
17 Neuroprotective Agents
18 glucocorticoids
19 Hormone Antagonists
20 Antiemetics
21 Hormones
22 Anti-Inflammatory Agents
23 Caseins
24 Chelating Agents
25 insulin
26 Insulin, Globin Zinc
27 Endocrine Disruptors
28 Cola

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behaviour and Weight in Patients With Prader-Willi Syndrome Terminated NCT00175305 Phase 3 Sandostatin LAR
2 A Phase 2b/3 Study to Evaluate the Safety, Tolerability, and Effects of Livoletide (AZP-531), an Unacylated Ghrelin Analogue, on Food-related Behaviors in Patients With Prader-Willi Syndrome Terminated NCT03790865 Phase 2, Phase 3 Livoletide;Placebo
3 Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02629991 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
4 Environmental Strategies & Behavior Change to Reduce Overeating in Obese Children Unknown status NCT01221220 Phase 2
5 A Ph 2, Randomized, Double-Blind, Placebo-controlled Pilot Study to Assess the Effects of RM-493, a Melanocortin 4 Receptor (MC4R) Agonist, in Obese Subjects With Prader-Willi Syndrome (PWS) on Safety, Weight Reduction, and Food-Related Behaviors Completed NCT02311673 Phase 2 RM-493;Placebo
6 Treatment of Hyperphagia Behavioral Symptoms in Children and Adults Diagnosed With Prader-Willi Syndrome Completed NCT01968187 Phase 2 FE 992097;Placebo
7 A 35-Day, Multi-Centre, Randomised, Parallel-Group, Double-Blind, Placebo-Controlled Proof of Concept Study to Investigate the Effects of GSK1521498 on Body Weight and Composition, Eating Behaviour and Related Brain Function, in Obese Subjects With Over-Eating Behaviours. Completed NCT01195792 Phase 2 GSK1521498;Placebo
8 Phase 2 Study: Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
9 Decreasing Stress and Improving Self-control With "Stress in Control" (Sync) Training Completed NCT01721499 Phase 1
10 Evaluation of Art-therapy on Alexithymia in Patients Suffering From Anorexia Nervosa and From Bulimia,a Pilot Study Unknown status NCT03524443
11 Effects of Noninvasive Brain Stimulation on Brain Activity and Appetite Unknown status NCT02758262
12 Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation- Induced Modulation of Hyperphagia in Prader-Willi Syndrome Completed NCT01863017
13 Study of Early Endocrine Profile in Infants With Prader-Willi Syndrome (PWS) in Order to Unravel the Switch From Early Feeding Difficulties to Obesity and Hyperphagia. Completed NCT02529085
14 Effects of Intranasal Administrations of Oxytocin on Behavioural Troubles, Hyperphagia and Social Skills in Children With Prader-Willi Syndrome Aged From 3 to 12 Years. Completed NCT03114371 Oxytocin;Placebo;Oxytocin
15 Electroretinographic Changes in Healthy Young Men Before and After Induction of Glucose Intolerance by Glucocorticoids Treatment, Hyperphagia and Lack of Exercise Completed NCT01140932 Prednisolone
16 The Effect of Intestinal Brake Activation at Different Locations in the Gut on Food Intake and Hormone Release Completed NCT02500069
17 The Impact of Snacks Which Vary Nutritionally in Their Satiating Potential on Measures of Appetite Control Completed NCT02480582
18 Individual Differences in Children's Susceptibility to Overeating Completed NCT01905293
19 Sense2Stop Mobile Sensor Data to Knowledge: Preliminary Study of the Effects of Wearable Sensors and Smartphone Apps on Real Time Stress and Smoking in Recently Quit Smokers Completed NCT03184389
20 Assessment of Gastric Emptying and Fullness of Different Types of Foods in Mali Completed NCT03007368
21 Exercise as a Buffer Against Stress-induced Overeating Completed NCT02936076
22 Cognitive Processes Study in Obese Women With and Without Eating Disorders : Research of Electro-physiological Similarity With Addiction Completed NCT01948414
23 How Does 4 Weeks of Increased Fast Food Intake Affect Metabolism? Completed NCT00826631
24 Taking Action to Thrive - A Healthy Lifestyle Intervention Pilot Study Completed NCT03478345
25 Body Composition Changes During Overfeeding Plus Resistance Training: Influence of Rate of Mass Gain, Assessment Method, and Participant Standardization Completed NCT04069351
26 Testing a Brief Mindful Eating Program: Feasibility and Proof of Concept Completed NCT04531436
27 The Breathe Light Study: Validation of Carbon Stable Isotope Ratio in Breath as an Indicator of Energy Balance and Substrate Utilization Completed NCT01976455
28 A Pilot Study Examining the Impact of Eggs for Breakfast on Weight Loss and Hunger in Obese Children Completed NCT02467036
29 Profiling of the Gut Microbiome in Children With Prader-Willi Syndrome: a Fiber Intervention to Target Hyperphagia (AIM 2) Recruiting NCT04150991
30 Early Intervention in Cognitive Aging Recruiting NCT02751866
31 Using Positive Parent-child Interactions as an Alternative Reinforcer to Promote Healthier Eating Among Young Children Recruiting NCT04280198
32 Role of Transcranial Direct Current Stimulation to Decrease Impulsivity and Compulsivity in Individuals With Obesity Active, not recruiting NCT04405089
33 Media Multi-tasking and Cued Overeating: Assessing the Pathway and Piloting an Intervention Using an Attentional Network Framework Active, not recruiting NCT03882957
34 Impact of Exercise on the Metabolic Consequences of Overeating Active, not recruiting NCT02701738
35 Fat Cell Size and Overfeeding and Etopic Study Active, not recruiting NCT01672632
36 Translational Neuroscience: Response Training for Obesity Treatment Active, not recruiting NCT03375853
37 Brain Mechanisms of Overeating in Children Enrolling by invitation NCT03341247
38 Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity Not yet recruiting NCT04768803
39 Maternal Obesity Programs Offspring Hypothalamic Neurogenesis and Appetite: Mechanisms and Prevention of Hyperphagia-mediated Childhood Obesity Not yet recruiting NCT04526860
40 Effect of Transcranial Random Noise Stimulation of Prefrontal Cortex on Craving Supply Subject Suffering From Obesity Terminated NCT02717247

Search NIH Clinical Center for Obesity, Hyperphagia, and Developmental Delay

Cochrane evidence based reviews: hyperphagia

Genetic Tests for Obesity, Hyperphagia, and Developmental Delay

Genetic tests related to Obesity, Hyperphagia, and Developmental Delay:

# Genetic test Affiliating Genes
1 Obesity, Hyperphagia, and Developmental Delay 29 NTRK2

Anatomical Context for Obesity, Hyperphagia, and Developmental Delay

MalaCards organs/tissues related to Obesity, Hyperphagia, and Developmental Delay:

40
Brain, Eye, Cortex, Uterus, Prefrontal Cortex

Publications for Obesity, Hyperphagia, and Developmental Delay

Articles related to Obesity, Hyperphagia, and Developmental Delay:

# Title Authors PMID Year
1
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 57 6
29100083 2017
2
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 6 57
27884935 2017
3
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. 6 57
15494731 2004
4
Brain-derived neurotrophic factor regulates energy balance downstream of melanocortin-4 receptor. 57
12796784 2003
5
Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. 61
29496979 2018

Variations for Obesity, Hyperphagia, and Developmental Delay

ClinVar genetic disease variations for Obesity, Hyperphagia, and Developmental Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NTRK2 NM_006180.4(NTRK2):c.2165A>G (p.Tyr722Cys) SNV Pathogenic 9127 rs121434633 GRCh37: 9:87570425-87570425
GRCh38: 9:84955510-84955510
2 NTRK2 NM_006180.4(NTRK2):c.1330G>T (p.Gly444Ter) SNV Pathogenic 427213 rs1085308029 GRCh37: 9:87366934-87366934
GRCh38: 9:84752019-84752019
3 NTRK2 NM_006180.4(NTRK2):c.2159C>T (p.Thr720Ile) SNV Pathogenic 487685 rs1554774973 GRCh37: 9:87570419-87570419
GRCh38: 9:84955504-84955504
4 NR2F1 NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) SNV Uncertain significance 599002 rs1561523716 GRCh37: 5:92920994-92920994
GRCh38: 5:93585288-93585288
5 NTRK2 NM_006180.6(NTRK2):c.2012A>G (p.His671Arg) SNV Uncertain significance 982875 GRCh37: 9:87570272-87570272
GRCh38: 9:84955357-84955357

UniProtKB/Swiss-Prot genetic disease variations for Obesity, Hyperphagia, and Developmental Delay:

72
# Symbol AA change Variation ID SNP ID
1 NTRK2 p.Tyr706Cys VAR_065890 rs121434633

Expression for Obesity, Hyperphagia, and Developmental Delay

Search GEO for disease gene expression data for Obesity, Hyperphagia, and Developmental Delay.

Pathways for Obesity, Hyperphagia, and Developmental Delay

GO Terms for Obesity, Hyperphagia, and Developmental Delay

Sources for Obesity, Hyperphagia, and Developmental Delay

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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