MCID: OBS015
MIFTS: 24

Obesity, Hyperphagia, and Developmental Delay

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 75 29 13 13 6 40 73
Obhd 57 75
Hyperphagia 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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)

MalaCards based summary : Obesity, Hyperphagia, and Developmental Delay, also known as obhd, is related to leptin receptor deficiency and prader-willi syndrome. An important gene associated with Obesity, Hyperphagia, and Developmental Delay is NTRK2 (Neurotrophic Receptor Tyrosine Kinase 2). Affiliated tissues include uterus, ovary and eye, and related phenotypes are facial asymmetry and stereotypy

UniProtKB/Swiss-Prot : 75 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 all 43)
# Related Disease Score Top Affiliating Genes
1 leptin receptor deficiency 11.3
2 prader-willi syndrome 11.2
3 kleine-levin hibernation syndrome 10.8
4 hypotonia-cystinuria syndrome 10.8
5 obesity, early-onset, with adrenal insufficiency and red hair 10.8
6 leptin deficiency or dysfunction 10.8
7 body mass index quantitative trait locus 19 10.8
8 obesity due to congenital leptin deficiency 10.8
9 congenital leptin deficiency 10.8
10 diabetes mellitus, noninsulin-dependent 10.0
11 anxiety 9.9
12 morbid obesity 9.9
13 dementia 9.9
14 thyroiditis 9.9
15 neuronitis 9.9
16 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.7
17 autism 9.7
18 body mass index quantitative trait locus 11 9.7
19 fatty liver disease, nonalcoholic 1 9.7
20 alacrima, achalasia, and mental retardation syndrome 9.7
21 bardet-biedl syndrome 2 9.7
22 bardet-biedl syndrome 10 9.7
23 bardet-biedl syndrome 11 9.7
24 bardet-biedl syndrome 12 9.7
25 hepatitis 9.7
26 mannosidosis 9.7
27 jejunoileitis 9.7
28 short bowel syndrome 9.7
29 hypogonadism 9.7
30 bardet-biedl syndrome 9.7
31 gangliocytoma 9.7
32 hypothalamic neoplasm 9.7
33 anovulation 9.7
34 craniopharyngioma 9.7
35 mutism 9.7
36 akinetic mutism 9.7
37 intestinal disease 9.7
38 premenstrual tension 9.7
39 hyperthyroidism 9.7
40 learning disability 9.7
41 hypoglycemia 9.7
42 ependymoma 9.7
43 hypotonia 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 32 HP:0000324
2 stereotypy 32 HP:0000733
3 obesity 32 HP:0001513
4 polyphagia 32 HP:0002591
5 severe global developmental delay 32 HP:0011344

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 29 NTRK2

Anatomical Context for Obesity, Hyperphagia, and Developmental Delay

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

41
Uterus, Ovary, Eye

Publications for Obesity, Hyperphagia, and Developmental Delay

Variations for Obesity, Hyperphagia, and Developmental Delay

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

75
# 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 GRCh37 Chromosome 9, 87570419: 87570419
6 NTRK2 NM_006180.4(NTRK2): c.2159C> T (p.Thr720Ile) single nucleotide variant Pathogenic 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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