OBAIRH
MCID: OBS081
MIFTS: 40

Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair (OBAIRH)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

MalaCards integrated aliases for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

Name: Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair 57 73
Obesity Due to Pro-Opiomelanocortin Deficiency 19 58 28 5
Proopiomelanocortin Deficiency 57 19 42 71
Pomc Deficiency 19 42 58
Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 57 12
Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair 19 42
Obairh 57 73
Pro-Opiomelanocortinin Deficiency 73

Characteristics:


Inheritance:

Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair: Autosomal recessive 57
Obesity Due to Pro-Opiomelanocortin Deficiency: Autosomal recessive 58

Prevelance:

Obesity Due to Pro-Opiomelanocortin Deficiency: <1/1000000 (Worldwide) 58

Age Of Onset:

Obesity Due to Pro-Opiomelanocortin Deficiency: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
gonadotropin, growth hormone, and tsh deficiency may become apparent in the teenage years
favorable response to treatment of hyperphagia with setmelanotide, a melanocortin-4 receptor agonist


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

MedlinePlus Genetics: 42 Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.

MalaCards based summary: Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair, also known as obesity due to pro-opiomelanocortin deficiency, is related to premature ovarian failure 7 and type 2 diabetes mellitus. An important gene associated with Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair is POMC (Proopiomelanocortin). The drugs Pharmaceutical Solutions and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and thyroid, and related phenotypes are increased adipose tissue and polyphagia

OMIM®: 57 OBAIRH is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated. The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and ACTH (summary by Kuhnen et al., 2016 and Clement et al., 2008). (609734) (Updated 08-Dec-2022)

GARD: 19 Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) which leads to adrenal insufficiency. They also tend to have red hair and pale skin. POMC deficiency is caused by genetic changes in the POMC gene. The condition is inherited in an autosomal recessive pattern.

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism.

Orphanet: 58 Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.

Related Diseases for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Diseases related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 7 10.2
2 type 2 diabetes mellitus 10.0
3 type 1 diabetes mellitus 10.0
4 dilution, pigmentary 10.0
5 leptin deficiency or dysfunction 10.0
6 hypothyroidism 10.0
7 hypogonadism 10.0
8 smith-lemli-opitz syndrome 9.9
9 opitz gbbb syndrome 9.9
10 ichthyosis, x-linked 9.9
11 chromosomal disease 9.9
12 urinary tract infection 9.9
13 hyperglycemia 9.9
14 diabetes mellitus 9.9
15 neurometabolic disease 9.9
16 hypopigmentation of the skin 9.9
17 overgrowth syndrome 9.9
18 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
19 acth deficiency, isolated 9.9
20 hypothyroidism, congenital, nongoitrous, 4 9.9
21 hypothyroidism, congenital, nongoitrous, 1 9.9
22 body mass index quantitative trait locus 11 9.9
23 body mass index quantitative trait locus 9 9.9
24 body mass index quantitative trait locus 8 9.9
25 body mass index quantitative trait locus 4 9.9
26 body mass index quantitative trait locus 10 9.9
27 body mass index quantitative trait locus 7 9.9
28 body mass index quantitative trait locus 12 9.9
29 body mass index quantitative trait locus 14 9.9
30 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.9
31 body mass index quantitative trait locus 18 9.9
32 body mass index quantitative trait locus 19 9.9
33 body mass index quantitative trait locus 20 9.9
34 hypogonadotropic hypogonadism 9.9
35 cholestasis 9.9
36 hypoglycemia 9.9
37 growth hormone deficiency 9.9
38 progressive encephalomyelitis with rigidity and myoclonus 9.9

Graphical network of the top 20 diseases related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:



Diseases related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Symptoms & Phenotypes for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Human phenotypes related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased adipose tissue 58 30 Obligate (100%) Obligate (100%)
HP:0009126
2 polyphagia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002591
3 cholestasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001396
4 hypopigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001010
5 red hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002297
6 central adrenal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0011734
7 childhood-onset truncal obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0008915
8 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
9 delayed skeletal maturation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002750
10 delayed puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000823
11 hyperinsulinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000842
12 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000956
13 pituitary hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008245
14 gonadotropin deficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008213
15 hypoglycemic seizures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002173
16 decreased response to growth hormone stimulation test 30 Very rare (1%) HP:0000824
17 obesity 58 30 Obligate (100%)
HP:0001513
18 growth delay 58 Occasional (29-5%)
19 hyperbilirubinemia 30 HP:0002904
20 adrenal hypoplasia 30 HP:0000835
21 adrenal insufficiency 30 HP:0000846
22 growth hormone deficiency 58 Occasional (29-5%)
23 adrenocorticotropic hormone deficiency 30 HP:0011748

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
hyperbilirubinemia
decreased plasma cortisol

Abdomen Gastrointestinal:
hyperphagia

Abdomen Liver:
cholestasis, early-onset, neonatal
hepatic failure, neonatal (in some patients)

Skin Nails Hair Skin:
pale skin (in most patients)

Endocrine Features:
adrenal hypoplasia
adrenal insufficiency
gonadotropin deficiency
delayed or absent puberty
acth deficiency
more
Growth Weight:
obesity, early-onset

Skin Nails Hair:
pigmentation abnormalities (in most patients)

Skin Nails Hair Hair:
red hair (in most patients)

Clinical features from OMIM®:

609734 (Updated 08-Dec-2022)

Drugs & Therapeutics for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Drugs for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 alpha-MSH Phase 3 581-05-5
3 Hormones Phase 3
4 Hormone Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label, 1-Year Trial, Including a Double-Blind Placebo-Controlled Withdrawal Period, of RM-493, a MC4R Agonist, in Early Onset POMC Deficiency Obesity Due to Bi-Allelic Loss-of-Function POMC or PCSK1 Genetic Mutation Completed NCT02896192 Phase 2, Phase 3 Setmelanotide;Placebo
2 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Active, not recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 A Phase 3 Multi-Center, One-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity Active, not recruiting NCT04966741 Phase 3 Setmelanotide
4 A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation Enrolling by invitation NCT05194124 Phase 3 Setmelanotide 20mg weekly;Placebo daily;Setmelanotide 30mg weekly;Setmelanotide 2mg daily;Setmelanotide 3mg daily;Placebo weekly
5 An Observational,Prospective Natural History Study of Early-Onset Extreme Obesity Due to Bi-Allelic Loss-of-Function Mutations in the POMC, PCSK1 or LEPR Genes Completed NCT03621007

Search NIH Clinical Center for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Genetic Tests for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Genetic tests related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

# Genetic test Affiliating Genes
1 Obesity Due to Pro-Opiomelanocortin Deficiency 28 POMC

Anatomical Context for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Organs/tissues related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

MalaCards : Skin, Pituitary, Thyroid

Publications for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Articles related to Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

(show all 50)
# Title Authors PMID Year
1
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10. 62 57 5
14557433 2003
2
Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene. 57 5
18765507 2008
3
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. 57 5
9620771 1998
4
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist. 62 57
27468060 2016
5
Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin. 57
10470087 1999
6
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA. 62
35775692 2022
7
Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. 62
35123544 2022
8
Adult-born proopiomelanocortin neurons derived from Rax-expressing precursors mitigate the metabolic effects of congenital hypothalamic proopiomelanocortin deficiency. 62
34329773 2021
9
Cellular carbon stress is a mediator of obesity-associated osteoarthritis development. 62
33984464 2021
10
Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases. 62
33666293 2021
11
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity. 62
33512658 2021
12
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review. 62
34177811 2021
13
Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. 62
33137293 2020
14
[Melanocortin peptides : Fundamentals, translational research, clinical dermatology, and future perspectives]. 62
32880662 2020
15
Hypothalamic POMC deficiency increases circulating adiponectin despite obesity. 62
32244188 2020
16
Comparative Transcriptomic Analyses of Developing Melanocortin Neurons Reveal New Regulators for the Anorexigenic Neuron Identity. 62
32213554 2020
17
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature. 62
30747411 2019
18
Selective Restoration of Pomc Expression in Glutamatergic POMC Neurons: Evidence for a Dynamic Hypothalamic Neurotransmitter Network. 62
30957016 2019
19
A novel mutation in the proopiomelanocortin (POMC) gene of a Hispanic child: metformin treatment shows a beneficial impact on the body mass index. 62
29858905 2018
20
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make. 62
28739551 2018
21
Hypothalamic Proopiomelanocortin Is Necessary for Normal Glucose Homeostasis in Female Mice. 62
30283405 2018
22
Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency. 62
29031731 2017
23
Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling. 62
28915118 2017
24
Hypothalamic-specific proopiomelanocortin deficiency reduces alcohol drinking in male and female mice. 62
27870313 2017
25
Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation. 62
27906547 2017
26
Neuroendocrinology: New hormone treatment for obesity caused by POMC-deficiency. 62
27658726 2016
27
Metabolic Precision Medicines: Curing POMC Deficiency. 62
27452145 2016
28
Hypothalamic POMC Deficiency Improves Glucose Tolerance Despite Insulin Resistance by Increasing Glycosuria. 62
26467632 2016
29
Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency. 62
25503863 2015
30
Conditional expression of Pomc in the Lepr-positive subpopulation of POMC neurons is sufficient for normal energy homeostasis and metabolism. 62
25594696 2015
31
Partially redundant enhancers cooperatively maintain Mammalian pomc expression above a critical functional threshold. 62
25671638 2015
32
The melanocortin system and insulin resistance in humans: insights from a patient with complete POMC deficiency and type 1 diabetes mellitus. 62
23649472 2014
33
Proopiomelanocortin Deficiency – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 62
24354022 2013
34
Are low maternal estriol levels a predictor for pro-opiomelanocortin (POMC) deficiency caused by POMC mutation during pregnancy? 62
24027193 2013
35
Early-onset severe obesity with ACTH deficiency and red hair in a boy: the POMC deficiency. 62
23431750 2012
36
Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin. 62
22077870 2011
37
Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency. 62
21363936 2011
38
Transient salt wasting in POMC-deficiency due to infection induced stress. 62
19998238 2010
39
Pro-opiomelanocortin (POMC)-derived peptides and the regulation of energy homeostasis. 62
18840502 2009
40
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature. 62
19221669 2009
41
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway. 62
18697863 2008
42
Pro-opiomelanocortin modulates the thermogenic and physical activity responses to high-fat feeding and markedly influences dietary fat preference. 62
17717049 2007
43
Peripheral mechanisms contributing to the glucocorticoid hypersensitivity in proopiomelanocortin null mice treated with corticosterone. 62
17592030 2007
44
Glucocorticoids exacerbate obesity and insulin resistance in neuron-specific proopiomelanocortin-deficient mice. 62
16440060 2006
45
Preservation of eumelanin hair pigmentation in proopiomelanocortin-deficient mice on a nonagouti (a/a) genetic background. 62
15564334 2005
46
The effects of proopiomelanocortin deficiency on murine adrenal development and responsiveness to adrenocorticotropin. 62
15231703 2004
47
Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36). 62
15070780 2004
48
Pro-opiomelanocortin (POMC) deficiency and peripheral melanocortins in obesity. 62
10885325 2000
49
Implications of proopiomelanocortin (POMC) mutations in humans: the POMC deficiency syndrome. 62
10652501 2000
50
Implications of the phenotype of POMC deficiency for the role of POMC-derived peptides in skin physiology. 62
10816678 1999

Variations for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

ClinVar genetic disease variations for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair:

5 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMC NM_000939.4(POMC):c.313G>T (p.Glu105Ter) SNV Pathogenic
13353 rs121918111 GRCh37: 2:25384441-25384441
GRCh38: 2:25161572-25161572
2 POMC NM_000939.4(POMC):c.433del (p.Arg145fs) DEL Pathogenic
13354 rs796065034 GRCh37: 2:25384321-25384321
GRCh38: 2:25161452-25161452
3 POMC NM_000939.4(POMC):c.-11C>A SNV Pathogenic
13355 rs753856820 GRCh37: 2:25387652-25387652
GRCh38: 2:25164783-25164783
4 POMC NM_000939.4(POMC):c.403_404dup (p.Lys136fs) DUP Pathogenic
13357 rs796065035 GRCh37: 2:25384349-25384350
GRCh38: 2:25161480-25161481
5 POMC NM_000939.4(POMC):c.151A>T (p.Lys51Ter) SNV Pathogenic
13358 rs121918112 GRCh37: 2:25384603-25384603
GRCh38: 2:25161734-25161734
6 POMC POMC, 1-BP DEL, NT6996 DEL Pathogenic
13359 GRCh37:
GRCh38:
7 POMC POMC, 1-BP INS, 6922C INSERT Pathogenic
492966 GRCh37:
GRCh38:
8 POMC NM_000939.4(POMC):c.416dup (p.Tyr139Ter) DUP Pathogenic
666581 rs1573250294 GRCh37: 2:25384337-25384338
GRCh38: 2:25161468-25161469
9 POMC NM_000939.4(POMC):c.84C>A (p.Cys28Ter) SNV Pathogenic
666582 rs1573254045 GRCh37: 2:25387558-25387558
GRCh38: 2:25164689-25164689
10 POMC NM_000939.4(POMC):c.133-2A>C SNV Pathogenic
436364 rs1553400259 GRCh37: 2:25384623-25384623
GRCh38: 2:25161754-25161754
11 LOC108167315, POMC NM_000939.4(POMC):c.-21+1G>A SNV Pathogenic
1706561 GRCh37: 2:25391366-25391366
GRCh38: 2:25168497-25168497
12 POMC NM_000939.4(POMC):c.474G>T (p.Lys158Asn) SNV Uncertain Significance
335355 rs373721473 GRCh37: 2:25384280-25384280
GRCh38: 2:25161411-25161411
13 POMC NM_000939.4(POMC):c.*120A>G SNV Uncertain Significance
335351 rs886055853 GRCh37: 2:25383830-25383830
GRCh38: 2:25160961-25160961
14 POMC NM_000939.4(POMC):c.4C>T (p.Pro2Ser) SNV Uncertain Significance
335359 rs752925315 GRCh37: 2:25387638-25387638
GRCh38: 2:25164769-25164769
15 POMC NM_000939.4(POMC):c.-20-904T>C SNV Uncertain Significance
335360 rs886055854 GRCh37: 2:25388565-25388565
GRCh38: 2:25165696-25165696
16 POMC NM_000939.4(POMC):c.*28del DEL Uncertain Significance
335353 rs756770132 GRCh37: 2:25383922-25383922
GRCh38: 2:25161053-25161053
17 POMC NM_000939.4(POMC):c.-20-906C>T SNV Uncertain Significance
335361 rs886055855 GRCh37: 2:25388567-25388567
GRCh38: 2:25165698-25165698
18 POMC NM_000939.4(POMC):c.583G>A (p.Ala195Thr) SNV Uncertain Significance
716681 rs141309351 GRCh37: 2:25384171-25384171
GRCh38: 2:25161302-25161302
19 POMC NM_000939.4(POMC):c.498C>T (p.Asp166=) SNV Uncertain Significance
895580 rs760352559 GRCh37: 2:25384256-25384256
GRCh38: 2:25161387-25161387
20 POMC NM_000939.4(POMC):c.491C>T (p.Ala164Val) SNV Uncertain Significance
895581 rs773522618 GRCh37: 2:25384263-25384263
GRCh38: 2:25161394-25161394
21 POMC NM_000939.4(POMC):c.801G>A (p.Glu267=) SNV Uncertain Significance
898575 rs779850714 GRCh37: 2:25383953-25383953
GRCh38: 2:25161084-25161084
22 POMC NM_000939.4(POMC):c.642G>A (p.Glu214=) SNV Uncertain Significance
898577 rs1671345551 GRCh37: 2:25384112-25384112
GRCh38: 2:25161243-25161243
23 POMC NM_000939.4(POMC):c.638C>T (p.Ala213Val) SNV Uncertain Significance
895579 rs757423347 GRCh37: 2:25384116-25384116
GRCh38: 2:25161247-25161247
24 POMC, LOC108167315 NM_001035256.2(POMC):c.-263C>A SNV Uncertain Significance
895643 rs556369764 GRCh37: 2:25391559-25391559
GRCh38: 2:25168690-25168690
25 POMC NM_000939.4(POMC):c.116C>T (p.Thr39Met) SNV Uncertain Significance
897472 rs200370644 GRCh37: 2:25387526-25387526
GRCh38: 2:25164657-25164657
26 POMC NM_000939.4(POMC):c.283A>G (p.Ser95Gly) SNV Uncertain Significance
896987 rs550376110 GRCh37: 2:25384471-25384471
GRCh38: 2:25161602-25161602
27 POMC NM_000939.4(POMC):c.394C>G (p.Pro132Ala) SNV Uncertain Significance
896986 rs8192606 GRCh37: 2:25384360-25384360
GRCh38: 2:25161491-25161491
28 POMC NM_000939.4(POMC):c.429C>G (p.His143Gln) SNV Uncertain Significance
451178 rs201519174 GRCh37: 2:25384325-25384325
GRCh38: 2:25161456-25161456
29 POMC NM_000939.4(POMC):c.261C>A (p.Phe87Leu) SNV Likely Benign
710881 rs199636726 GRCh37: 2:25384493-25384493
GRCh38: 2:25161624-25161624
30 POMC NM_000939.4(POMC):c.662A>G (p.Tyr221Cys) SNV Likely Benign
898576 rs149540566 GRCh37: 2:25384092-25384092
GRCh38: 2:25161223-25161223
31 POMC NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) MICROSAT Likely Benign
211935 rs10654394 GRCh37: 2:25384456-25384457
GRCh38: 2:25161587-25161588
32 POMC NM_000939.4(POMC):c.158A>G (p.Asp53Gly) SNV Likely Benign
335357 rs28932470 GRCh37: 2:25384596-25384596
GRCh38: 2:25161727-25161727
33 POMC NM_000939.4(POMC):c.18C>T (p.Cys6=) SNV Likely Benign
335358 rs8192605 GRCh37: 2:25387624-25387624
GRCh38: 2:25164755-25164755
34 POMC NM_000939.4(POMC):c.585C>T (p.Ala195=) SNV Benign
335354 rs2071345 GRCh37: 2:25384169-25384169
GRCh38: 2:25161300-25161300
35 POMC NM_000939.4(POMC):c.706C>G (p.Arg236Gly) SNV Benign
13356 rs28932472 GRCh37: 2:25384048-25384048
GRCh38: 2:25161179-25161179
36 POMC NM_000939.4(POMC):c.*63C>T SNV Benign
335352 rs1042571 GRCh37: 2:25383887-25383887
GRCh38: 2:25161018-25161018
37 POMC NM_000939.4(POMC):c.282C>T (p.Ser94=) SNV Benign
335356 rs28930368 GRCh37: 2:25384472-25384472
GRCh38: 2:25161603-25161603
38 POMC, LOC108167315 NM_001035256.2(POMC):c.-203A>G SNV Benign
335362 rs139229417 GRCh37: 2:25391499-25391499
GRCh38: 2:25168630-25168630

Expression for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Search GEO for disease gene expression data for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair.

Pathways for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

GO Terms for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

Sources for Obesity, Early-Onset, with Adrenal Insufficiency and Red Hair

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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