OBHD
MCID: OBS015
MIFTS: 28

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 58 76 30 13 6 41 74
Obhd 58 76
Hyperphagia 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
obesity, hyperphagia, and developmental delay:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Obesity, Hyperphagia, and Developmental Delay

OMIM : 58 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)

MalaCards based summary : Obesity, Hyperphagia, and Developmental Delay, also known as obhd, is related to leptin receptor deficiency and leptin deficiency or dysfunction. An important gene associated with Obesity, Hyperphagia, and Developmental Delay is NTRK2 (Neurotrophic Receptor Tyrosine Kinase 2). Affiliated tissues include liver, eye and ovary, and related phenotypes are seizures and delayed myelination

UniProtKB/Swiss-Prot : 76 Obesity, hyperphagia, and developmental delay: A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language.

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 76)
# Related Disease Score Top Affiliating Genes
1 leptin receptor deficiency 11.6
2 leptin deficiency or dysfunction 11.5
3 prader-willi syndrome 11.4
4 body mass index quantitative trait locus 19 11.4
5 kleine-levin hibernation syndrome 11.2
6 obesity, early-onset, with adrenal insufficiency and red hair 11.2
7 hypotonia-cystinuria syndrome 11.0
8 body mass index quantitative trait locus 20 11.0
9 obesity due to congenital leptin deficiency 11.0
10 congenital leptin deficiency 11.0
11 hyperinsulinism 10.2
12 diabetes mellitus, noninsulin-dependent 10.2
13 body mass index quantitative trait locus 11 10.1
14 body mass index quantitative trait locus 8 10.1
15 body mass index quantitative trait locus 10 10.1
16 body mass index quantitative trait locus 7 10.1
17 body mass index quantitative trait locus 14 10.1
18 body mass index quantitative trait locus 18 10.1
19 hypothalamic obesity 10.1
20 anxiety 10.1
21 cystadenoma 10.1
22 craniopharyngioma 10.1
23 hyperglycemia 10.1
24 fatty liver disease, nonalcoholic 1 10.0
25 dementia 10.0
26 hypogonadism 10.0
27 hypogonadotropism 10.0
28 hyperthyroidism 10.0
29 hypoglycemia 10.0
30 alzheimer disease 9.8
31 buschke-ollendorff syndrome 9.8
32 down syndrome 9.8
33 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.8
34 autism 9.8
35 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
36 mannosidosis, alpha b, lysosomal 9.8
37 graves disease 1 9.8
38 proprotein convertase 1/3 deficiency 9.8
39 body mass index quantitative trait locus 1 9.8
40 leukemia, acute lymphoblastic 9.8
41 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8
42 alacrima, achalasia, and mental retardation syndrome 9.8
43 bardet-biedl syndrome 2 9.8
44 bardet-biedl syndrome 10 9.8
45 bardet-biedl syndrome 11 9.8
46 bardet-biedl syndrome 12 9.8
47 acute lymphoblastic leukemia, childhood 9.8
48 insulinoma 9.8
49 leukemia 9.8
50 liver disease 9.8

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 delayed myelination 33 very rare (1%) HP:0012448
3 obesity 33 HP:0001513
4 intellectual disability 33 HP:0001249
5 stereotypy 33 HP:0000733
6 severe global developmental delay 33 HP:0011344
7 polyphagia 33 HP:0002591
8 facial asymmetry 33 HP:0000324
9 autistic behavior 33 HP:0000729

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

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

Abdomen Gastrointestinal:
hyperphagia

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

Skeletal Skull:
left coronal synostosis (in 1 patient)

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

Growth Height:
above-average height

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

Clinical features from OMIM:

613886

Drugs & Therapeutics for Obesity, Hyperphagia, and Developmental Delay

Search Clinical Trials , 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 30 NTRK2

Anatomical Context for Obesity, Hyperphagia, and Developmental Delay

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

42
Liver, Eye, Ovary, Uterus, Heart, Tongue

Publications for Obesity, Hyperphagia, and Developmental Delay

Articles related to Obesity, Hyperphagia, and Developmental Delay:

# Title Authors Year
1
Diagnostic value of exome and whole genome sequencing in craniosynostosis. ( 27884935 )
2017
2
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. ( 29100083 )
2017
3
A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. ( 15494731 )
2004

Variations for Obesity, Hyperphagia, and Developmental Delay

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

76
# Symbol AA change Variation ID SNP ID
1 NTRK2 p.Tyr706Cys VAR_065890 rs121434633

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTRK2 NM_006180.4(NTRK2): c.2165A> G (p.Tyr722Cys) single nucleotide variant Pathogenic rs121434633 GRCh37 Chromosome 9, 87570425: 87570425
2 NTRK2 NM_006180.4(NTRK2): c.2165A> G (p.Tyr722Cys) single nucleotide variant Pathogenic rs121434633 GRCh38 Chromosome 9, 84955510: 84955510
3 NTRK2 NM_006180.4(NTRK2): c.1330G> T (p.Gly444Ter) single nucleotide variant Pathogenic rs1085308029 GRCh37 Chromosome 9, 87366934: 87366934
4 NTRK2 NM_006180.4(NTRK2): c.1330G> T (p.Gly444Ter) single nucleotide variant Pathogenic rs1085308029 GRCh38 Chromosome 9, 84752019: 84752019
5 NTRK2 NM_006180.4(NTRK2): c.2159C> T (p.Thr720Ile) single nucleotide variant Pathogenic rs1554774973 GRCh37 Chromosome 9, 87570419: 87570419
6 NTRK2 NM_006180.4(NTRK2): c.2159C> T (p.Thr720Ile) single nucleotide variant Pathogenic rs1554774973 GRCh38 Chromosome 9, 84955504: 84955504

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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