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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Adrenal Insufficiency (D000309)
Parent Node: Obesity (D009765)
..Starting node ..Proopiomelanocortin Deficiency (C565726)
Child Nodes:
Sister Nodes:
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 (OMIM:606770)
..ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 (OMIM:606771)
..Ayazi syndrome (C537793)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11 (OMIM:300306)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (OMIM:612362)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13 (OMIM:612459)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 (OMIM:612460)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 7 (OMIM:608410)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 8 (OMIM:603188)
..BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 (OMIM:602025)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Camera Marugo Cohen syndrome (C537964)
..Clark-Baraitser syndrome (C536208)
..Cohen syndrome (C536438)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..FASTING INSULIN LEVEL QUANTITATIVE TRAIT LOCUS 1 (OMIM:606035)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..MEHMO syndrome (C537451)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..MOMES Syndrome (C564660)
..MORM syndrome (C536984)
..Obesity Hypoventilation Syndrome (D010845)
..Obesity, Abdominal (D056128)
..Obesity, Hyperphagia, and Developmental Delay (C563938)
..Obesity, Morbid (D009767)
..Pediatric Obesity (D063766)
..Prader-Willi Syndrome (D011218) 2
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..Proopiomelanocortin Deficiency (C565726)
..Proprotein Convertase 1 3 Deficiency (C563423)
..PROPROTEIN CONVERTASE 1/3 DEFICIENCY (OMIM:600955)
..Short Stature-Obesity Syndrome (C564821)
..Vasquez Hurst Sotos syndrome (C536533)
..Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome (C567292)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Young Hughes syndrome (C536715)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9333

Name:

Proopiomelanocortin Deficiency

Definition:

Alternative IDs:

OMIM:609734

ParentIDs:

MESH:D000309|MESH:D009765

TreeNumbers:

C18.654.726.500/C565726 |C19.053.500/C565726 |C23.888.144.699.500/C565726

Synonyms:

Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair

Slim Mappings:

Endocrine system disease|Nutrition disorder|Signs and symptoms

Reference:

MedGen: C565726
MeSH: C565726
OMIM: 609734;

Genes: POMC;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000846	Adrenal insufficiency
3	HP:0011748	Adrenocorticotropic hormone deficiency
4	HP:0001396	Cholestasis
5	HP:0002173	Hypoglycemic seizures
6	HP:0001513	Obesity
7	HP:0002297	Red hair

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001035256.2(POMC):c.433delC (p.Arg145Alafs)	5443	POMC	Pathogenic	796065034	RCV000014282;	N	MedGen:C1857854,OMIM:609734,ORPHA:71526	2	25384321	25384321	NM_001035256.2:c.433delC	NP_001030333.1:p.Arg145Alafs	NC_000002.11:g.25384321delG	OMIM Allelic Variant:176830.0002	C1857854 609734 Proopiomelanocortin deficiency
NM_001035256.2(POMC):c.403_404dupGG (p.Lys136Alafs)	5443	POMC	Pathogenic	796065035	RCV000014285;	N	MedGen:C1857854,OMIM:609734,ORPHA:71526	2	25384350	25384351	NM_001035256.2:c.403_404dupGG	NP_001030333.1:p.Lys136Alafs	NC_000002.11:g.25384350_25384351dupCC	OMIM Allelic Variant:176830.0005	C1857854 609734 Proopiomelanocortin deficiency
NM_001035256.2(POMC):c.313G>T (p.Glu105Ter)	5443	POMC	Pathogenic	121918111	RCV000014281;	N	MedGen:C1857854,OMIM:609734,ORPHA:71526	2	25384441	25384441	NM_001035256.2:c.313G>T	NP_001030333.1:p.Glu105Ter	NC_000002.11:g.25384441C>A	OMIM Allelic Variant:176830.0001	C1857854 609734 Proopiomelanocortin deficiency
NM_001035256.2(POMC):c.151A>T (p.Lys51Ter)	5443	POMC	Pathogenic	121918112	RCV000014286;	N	MedGen:C1857854,OMIM:609734,ORPHA:71526	2	25384603	25384603	NM_001035256.2:c.151A>T	NP_001030333.1:p.Lys51Ter	NC_000002.11:g.25384603T>A	OMIM Allelic Variant:176830.0006	C1857854 609734 Proopiomelanocortin deficiency
NM_001035256.2(POMC):c.-11C>A	5443	POMC	Pathogenic	753856820	RCV000014283;	N	MedGen:C1857854,OMIM:609734,ORPHA:71526	2	25387652	25387652	NM_001035256.2:c.-11C>A		NC_000002.11:g.25387652G>T	OMIM Allelic Variant:176830.0003	C1857854 609734 Proopiomelanocortin deficiency