Proprotein Convertase 1/3 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRP098 MIFTS: 29	Proprotein Convertase 1/3 Deficiency Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Proprotein Convertase 1/3 Deficiency

MalaCards integrated aliases for Proprotein Convertase 1/3 Deficiency:

Name: Proprotein Convertase 1/3 Deficiency ⁵⁷ ²⁹ ⁶ ⁴⁰

Obesity with Impaired Prohormone Processing ⁵⁷ ¹³

Obesity and Endocrinopathy Due to Impaired Processing of Prohormones ⁵⁷

Obesity Due to Prohormone Convertase I Deficiency ⁵⁹

Proprotein Convertase 1 3 Deficiency ⁷³

Proprotein Convertase 1 Deficiency ⁷⁵

Pci Deficiency ⁵⁹

Pc1 Deficiency ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

obesity due to prohormone convertase i deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
phenotypic variability

HPO:

³²

proprotein convertase 1/3 deficiency:
Onset and clinical course phenotypic variability
Inheritance sporadic

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁹

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 600955

Orphanet ⁵⁹ ORPHA71528

ICD10 via Orphanet ³⁴ E66.8

MedGen ⁴² C1833053

UMLS ⁷³ C1833053

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Summaries for Proprotein Convertase 1/3 Deficiency

UniProtKB/Swiss-Prot : ⁷⁵ Proprotein convertase 1 deficiency: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.

MalaCards based summary : Proprotein Convertase 1/3 Deficiency, also known as obesity with impaired prohormone processing, is related to diabetes mellitus, ketosis-prone and diabetes mellitus, and has symptoms including diarrhea An important gene associated with Proprotein Convertase 1/3 Deficiency is PCSK1 (Proprotein Convertase Subtilisin/Kexin Type 1). Affiliated tissues include small intestine, pituitary and skin, and related phenotypes are obesity and increased adipose tissue

Description from OMIM: 600955

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Related Diseases for Proprotein Convertase 1/3 Deficiency

Diseases related to Proprotein Convertase 1/3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	diabetes mellitus, ketosis-prone	10.2
2	diabetes mellitus	10.2
3	diarrhea	10.2
4	body mass index quantitative trait locus 12	9.0	LOC101929710 PCSK1

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Symptoms & Phenotypes for Proprotein Convertase 1/3 Deficiency

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endocrine Features:
primary amenorrhea
hypocortisolemia
hypogonadotropic hypogonadism
hypoglycemia, reactive
impaired processing of proopiomelanocortin (pomc, )

Growth Weight:
obesity, early-onset

Abdomen Gastrointestinal:
diarrhea
malabsorption (small intestine)
small intestine biopsy shows villous atrophy

Laboratory Abnormalities:
increased plasma proinsulin
decreased or normal plasma insulin
increased plasma progastrin
increased plasma proglucagon

Clinical features from OMIM:

600955

Human phenotypes related to Proprotein Convertase 1/3 Deficiency:

⁵⁹ ³² (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	obesity ⁵⁹ ³²		Obligate (100%)	HP:0001513
2	increased adipose tissue ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0009126
3	polyphagia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002591
4	hypopigmentation of the skin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001010
5	cholestasis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001396
6	red hair ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002297
7	childhood-onset truncal obesity ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008915
8	central adrenal insufficiency ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011734
9	delayed puberty ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000823
10	growth hormone deficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000824
11	hyperinsulinemia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000842
12	acanthosis nigricans ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000956
13	failure to thrive ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001508
14	hypoglycemic seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002173
15	delayed skeletal maturation ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002750
16	gonadotropin deficiency ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008213
17	pituitary hypothyroidism ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0008245
18	growth delay ⁵⁹		Occasional (29-5%)
19	hypogonadotrophic hypogonadism ³²			HP:0000044
20	primary amenorrhea ³²			HP:0000786
21	diarrhea ³²			HP:0002014
22	malabsorption ³²			HP:0002024
23	decreased circulating cortisol level ³²			HP:0008163
24	villous atrophy ³²			HP:0011473
25	reactive hypoglycemia ³²			HP:0012051

UMLS symptoms related to Proprotein Convertase 1/3 Deficiency:

diarrhea

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Drugs & Therapeutics for Proprotein Convertase 1/3 Deficiency

Search Clinical Trials , NIH Clinical Center for Proprotein Convertase 1/3 Deficiency

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Genetic Tests for Proprotein Convertase 1/3 Deficiency

Genetic tests related to Proprotein Convertase 1/3 Deficiency:

#	Genetic test	Affiliating Genes
1	Proprotein Convertase 1/3 Deficiency ²⁹	PCSK1

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Anatomical Context for Proprotein Convertase 1/3 Deficiency

MalaCards organs/tissues related to Proprotein Convertase 1/3 Deficiency:

⁴¹

Small Intestine, Pituitary, Skin

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Publications for Proprotein Convertase 1/3 Deficiency

Articles related to Proprotein Convertase 1/3 Deficiency:

#	Title	Authors	Year
1	Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy. ( 28588004 )	Tuli G....Matarazzo P.	2017
2	Proprotein Convertase 1/3 Deficiency. ( 28965329 )	Kumar G....Sohal A.P.S.	2017
3	Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. ( 23562752 )	MartA-n M.G....Georgia S.	2013

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Genes for Proprotein Convertase 1/3 Deficiency

Genes related to Proprotein Convertase 1/3 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1680.64	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Summaries Variants (show sections)	9207799 14617756 17595246
2	LOC101929710	Uncharacterized LOC101929710	RNA Gene	10.13	GeneCards inferred via : Variants (show sections)

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Variations for Proprotein Convertase 1/3 Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Proprotein Convertase 1/3 Deficiency:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	PCSK1	p.Gly483Arg	VAR_022778	rs137852821
2	PCSK1	p.Ser307Leu	VAR_055002	rs137852824

ClinVar genetic disease variations for Proprotein Convertase 1/3 Deficiency:

⁶

(show top 50) (show all 111)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PCSK1	NM_000439.4(PCSK1): c.1447G> A (p.Gly483Arg)	single nucleotide variant	Pathogenic	rs137852821	GRCh37	Chromosome 5, 95734724: 95734724
2	PCSK1	NM_000439.4(PCSK1): c.1447G> A (p.Gly483Arg)	single nucleotide variant	Pathogenic	rs137852821	GRCh38	Chromosome 5, 96399020: 96399020
3	PCSK1	PCSK1, IVS5DS, A-C, +4	single nucleotide variant	Pathogenic
4	PCSK1	NM_000439.4(PCSK1): c.748G> T (p.Glu250Ter)	single nucleotide variant	Pathogenic	rs137852822	GRCh37	Chromosome 5, 95748156: 95748156
5	PCSK1	NM_000439.4(PCSK1): c.748G> T (p.Glu250Ter)	single nucleotide variant	Pathogenic	rs137852822	GRCh38	Chromosome 5, 96412452: 96412452
6	PCSK1	NM_000439.4(PCSK1): c.637_639delGCA (p.Ala213del)	deletion	Pathogenic	rs137852823	GRCh37	Chromosome 5, 95751807: 95751809
7	PCSK1	NM_000439.4(PCSK1): c.637_639delGCA (p.Ala213del)	deletion	Pathogenic	rs137852823	GRCh38	Chromosome 5, 96416103: 96416105
8	PCSK1	NM_000439.4(PCSK1): c.920C> T (p.Ser307Leu)	single nucleotide variant	Pathogenic	rs137852824	GRCh37	Chromosome 5, 95746653: 95746653
9	PCSK1	NM_000439.4(PCSK1): c.920C> T (p.Ser307Leu)	single nucleotide variant	Pathogenic	rs137852824	GRCh38	Chromosome 5, 96410949: 96410949
10	PCSK1	NM_000439.4(PCSK1): c.*2288A> G	single nucleotide variant	Uncertain significance	rs886060874	GRCh37	Chromosome 5, 95726417: 95726417
11	PCSK1	NM_000439.4(PCSK1): c.*2288A> G	single nucleotide variant	Uncertain significance	rs886060874	GRCh38	Chromosome 5, 96390713: 96390713
12	PCSK1	NM_000439.4(PCSK1): c.*1912G> A	single nucleotide variant	Uncertain significance	rs886060876	GRCh37	Chromosome 5, 95726793: 95726793
13	PCSK1	NM_000439.4(PCSK1): c.*1912G> A	single nucleotide variant	Uncertain significance	rs886060876	GRCh38	Chromosome 5, 96391089: 96391089
14	PCSK1	NM_000439.4(PCSK1): c.*1530T> C	single nucleotide variant	Likely benign	rs2882298	GRCh37	Chromosome 5, 95727175: 95727175
15	PCSK1	NM_000439.4(PCSK1): c.*1530T> C	single nucleotide variant	Likely benign	rs2882298	GRCh38	Chromosome 5, 96391471: 96391471
16	PCSK1	NM_000439.4(PCSK1): c.*1333A> T	single nucleotide variant	Uncertain significance	rs6556922	GRCh37	Chromosome 5, 95727372: 95727372
17	PCSK1	NM_000439.4(PCSK1): c.*1333A> T	single nucleotide variant	Uncertain significance	rs6556922	GRCh38	Chromosome 5, 96391668: 96391668
18	PCSK1	NM_000439.4(PCSK1): c.*1232G> A	single nucleotide variant	Uncertain significance	rs373852338	GRCh37	Chromosome 5, 95727473: 95727473
19	PCSK1	NM_000439.4(PCSK1): c.*1232G> A	single nucleotide variant	Uncertain significance	rs373852338	GRCh38	Chromosome 5, 96391769: 96391769
20	PCSK1	NM_000439.4(PCSK1): c.*1164T> C	single nucleotide variant	Uncertain significance	rs886060882	GRCh37	Chromosome 5, 95727541: 95727541
21	PCSK1	NM_000439.4(PCSK1): c.*1164T> C	single nucleotide variant	Uncertain significance	rs886060882	GRCh38	Chromosome 5, 96391837: 96391837
22	PCSK1	NM_000439.4(PCSK1): c.*287A> G	single nucleotide variant	Uncertain significance	rs373041583	GRCh38	Chromosome 5, 96392714: 96392714
23	PCSK1	NM_000439.4(PCSK1): c.*287A> G	single nucleotide variant	Uncertain significance	rs373041583	GRCh37	Chromosome 5, 95728418: 95728418
24	PCSK1	NM_000439.4(PCSK1): c.*262delA	deletion	Uncertain significance	rs886060885	GRCh38	Chromosome 5, 96392739: 96392739
25	PCSK1	NM_000439.4(PCSK1): c.*262delA	deletion	Uncertain significance	rs886060885	GRCh37	Chromosome 5, 95728443: 95728443
26	PCSK1	NM_000439.4(PCSK1): c.1993C> G (p.Gln665Glu)	single nucleotide variant	Likely benign	rs6234	GRCh38	Chromosome 5, 96393270: 96393270
27	PCSK1	NM_000439.4(PCSK1): c.1993C> G (p.Gln665Glu)	single nucleotide variant	Likely benign	rs6234	GRCh37	Chromosome 5, 95728974: 95728974
28	PCSK1	NM_000439.4(PCSK1): c.1923G> A (p.Leu641=)	single nucleotide variant	Uncertain significance	rs6236	GRCh38	Chromosome 5, 96393340: 96393340
29	PCSK1	NM_000439.4(PCSK1): c.1923G> A (p.Leu641=)	single nucleotide variant	Uncertain significance	rs6236	GRCh37	Chromosome 5, 95729044: 95729044
30	PCSK1	NM_000439.4(PCSK1): c.1764G> A (p.Lys588=)	single nucleotide variant	Uncertain significance	rs538803955	GRCh37	Chromosome 5, 95730688: 95730688
31	PCSK1	NM_000439.4(PCSK1): c.1764G> A (p.Lys588=)	single nucleotide variant	Uncertain significance	rs538803955	GRCh38	Chromosome 5, 96394984: 96394984
32	PCSK1	NM_000439.4(PCSK1): c.709+11G> A	single nucleotide variant	Uncertain significance	rs199951150	GRCh37	Chromosome 5, 95751726: 95751726
33	PCSK1	NM_000439.4(PCSK1): c.709+11G> A	single nucleotide variant	Uncertain significance	rs199951150	GRCh38	Chromosome 5, 96416022: 96416022
34	PCSK1	NM_000439.4(PCSK1): c.*1854T> A	single nucleotide variant	Uncertain significance	rs886060877	GRCh37	Chromosome 5, 95726851: 95726851
35	PCSK1	NM_000439.4(PCSK1): c.*1854T> A	single nucleotide variant	Uncertain significance	rs886060877	GRCh38	Chromosome 5, 96391147: 96391147
36	PCSK1	NM_000439.4(PCSK1): c.*1733G> A	single nucleotide variant	Uncertain significance	rs189919167	GRCh38	Chromosome 5, 96391268: 96391268
37	PCSK1	NM_000439.4(PCSK1): c.*1733G> A	single nucleotide variant	Uncertain significance	rs189919167	GRCh37	Chromosome 5, 95726972: 95726972
38	PCSK1	NM_000439.4(PCSK1): c.*1443C> T	single nucleotide variant	Uncertain significance	rs182581645	GRCh37	Chromosome 5, 95727262: 95727262
39	PCSK1	NM_000439.4(PCSK1): c.*1443C> T	single nucleotide variant	Uncertain significance	rs182581645	GRCh38	Chromosome 5, 96391558: 96391558
40	PCSK1	NM_000439.4(PCSK1): c.*1414A> C	single nucleotide variant	Uncertain significance	rs886060879	GRCh37	Chromosome 5, 95727291: 95727291
41	PCSK1	NM_000439.4(PCSK1): c.*1414A> C	single nucleotide variant	Uncertain significance	rs886060879	GRCh38	Chromosome 5, 96391587: 96391587
42	PCSK1	NM_000439.4(PCSK1): c.*1401C> T	single nucleotide variant	Uncertain significance	rs886060880	GRCh37	Chromosome 5, 95727304: 95727304
43	PCSK1	NM_000439.4(PCSK1): c.*1401C> T	single nucleotide variant	Uncertain significance	rs886060880	GRCh38	Chromosome 5, 96391600: 96391600
44	PCSK1	NM_000439.4(PCSK1): c.*1097C> A	single nucleotide variant	Uncertain significance	rs867846512	GRCh37	Chromosome 5, 95727608: 95727608
45	PCSK1	NM_000439.4(PCSK1): c.*1097C> A	single nucleotide variant	Uncertain significance	rs867846512	GRCh38	Chromosome 5, 96391904: 96391904
46	PCSK1	NM_000439.4(PCSK1): c.*1041T> A	single nucleotide variant	Likely benign	rs17085675	GRCh37	Chromosome 5, 95727664: 95727664
47	PCSK1	NM_000439.4(PCSK1): c.*1041T> A	single nucleotide variant	Likely benign	rs17085675	GRCh38	Chromosome 5, 96391960: 96391960
48	PCSK1	NM_000439.4(PCSK1): c.*837G> A	single nucleotide variant	Uncertain significance	rs772439505	GRCh38	Chromosome 5, 96392164: 96392164
49	PCSK1	NM_000439.4(PCSK1): c.*837G> A	single nucleotide variant	Uncertain significance	rs772439505	GRCh37	Chromosome 5, 95727868: 95727868
50	PCSK1	NM_000439.4(PCSK1): c.*265T> C	single nucleotide variant	Likely benign	rs3811942	GRCh38	Chromosome 5, 96392736: 96392736

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Expression for Proprotein Convertase 1/3 Deficiency

Search GEO for disease gene expression data for Proprotein Convertase 1/3 Deficiency.

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Pathways for Proprotein Convertase 1/3 Deficiency

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GO Terms for Proprotein Convertase 1/3 Deficiency

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Sources for Proprotein Convertase 1/3 Deficiency

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