MCID: OBS020
MIFTS: 28

Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

MalaCards integrated aliases for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency:

Name: Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency 54 24 13
Proopiomelanocortin Deficiency 23 50 24 25 29 69
Pomc Deficiency 23 50 25 56
Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair 50 25
Obesity Due to Pro-Opiomelanocortin Deficiency 50 56
Pro-Opiomelanocortinin Deficiency 71
Proopiomelanocortin 13
Pomcd 71

Characteristics:

Orphanet epidemiological data:

56
obesity due to pro-opiomelanocortin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
obesity, adrenal insufficiency, and red hair due to pomc deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare endocrine diseases


Summaries for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

NIH Rare Diseases : 50 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 mutations in the pomc gene. the condition is inherited in an autosomal recessive pattern. adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.   last updated: 8/10/2015

MalaCards based summary : Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency, also known as proopiomelanocortin deficiency, is related to adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency and obesity, and has symptoms including failure to thrive, hyperinsulinemia and delayed puberty. An important gene associated with Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency is POMC (Proopiomelanocortin). Affiliated tissues include skin and pituitary.

UniProtKB/Swiss-Prot : 71 Pro-opiomelanocortinin deficiency: Affected individuals present early-onset obesity, adrenal insufficiency and red hair.

Genetics Home Reference : 25 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.

Description from OMIM: 609734
GeneReviews: NBK174451

Related Diseases for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Diseases related to Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.8
2 obesity 9.7
3 thyroiditis 9.7

Symptoms & Phenotypes for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Clinical features from OMIM:

609734

Human phenotypes related to Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
2 hyperinsulinemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000842
3 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
4 growth hormone deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000824
5 cholestasis 56 32 frequent (33%) Frequent (79-30%) HP:0001396
6 obesity 56 32 Obligate (100%) HP:0001513
7 acanthosis nigricans 56 32 occasional (7.5%) Occasional (29-5%) HP:0000956
8 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
9 hypoglycemic seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002173
10 red hair 56 32 frequent (33%) Frequent (79-30%) HP:0002297
11 gonadotropin deficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0008213
12 central adrenal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0011734
13 polyphagia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002591
14 increased adipose tissue 56 32 obligate (100%) Obligate (100%) HP:0009126
15 pituitary hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0008245
16 hypopigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0001010
17 childhood-onset truncal obesity 56 32 frequent (33%) Frequent (79-30%) HP:0008915
18 adrenal insufficiency 32 HP:0000846
19 growth delay 56 Occasional (29-5%)
20 adrenocorticotropic hormone deficiency 32 HP:0011748

Drugs & Therapeutics for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Search Clinical Trials , NIH Clinical Center for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency

Genetic Tests for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Genetic tests related to Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency:

id Genetic test Affiliating Genes
1 Proopiomelanocortin Deficiency 29 24 POMC

Anatomical Context for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

MalaCards organs/tissues related to Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency:

39
Skin, Pituitary

Publications for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Variations for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

ClinVar genetic disease variations for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POMC NM_001035256.2(POMC): c.313G> T (p.Glu105Ter) single nucleotide variant Pathogenic rs121918111 GRCh37 Chromosome 2, 25384441: 25384441
2 POMC NM_001035256.2(POMC): c.433delC (p.Arg145Alafs) deletion Pathogenic rs796065034 GRCh38 Chromosome 2, 25161452: 25161452
3 POMC NM_001035256.2(POMC): c.-11C> A single nucleotide variant Pathogenic rs753856820 GRCh38 Chromosome 2, 25164783: 25164783
4 POMC NM_001035256.2(POMC): c.403_404dupGG (p.Lys136Alafs) duplication Pathogenic rs796065035 GRCh38 Chromosome 2, 25161481: 25161482
5 POMC NM_001035256.2(POMC): c.151A> T (p.Lys51Ter) single nucleotide variant Pathogenic rs121918112 GRCh37 Chromosome 2, 25384603: 25384603
6 POMC POMC, 1-BP DEL, NT6996 deletion Pathogenic
7 POMC NM_001035256.2(POMC): c.133-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 2, 25384623: 25384623

Expression for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Search GEO for disease gene expression data for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc Deficiency.

Pathways for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

GO Terms for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

Sources for Obesity, Adrenal Insufficiency, and Red Hair Due to Pomc...

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