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

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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 ¹¹ ¹⁴

Obesity Due to Prohormone Convertase I Deficiency ¹¹ ⁵⁸ ²⁸ ⁵

Obesity with Impaired Prohormone Processing ¹¹ ¹² ³⁸

Obesity and Endocrinopathy Due to Impaired Processing of Prohormones ⁵⁷ ¹¹

Proprotein Convertase 1 3 Deficiency ⁴³ ⁷¹

Pci Deficiency ¹¹ ⁵⁸

Endocrinopathy Due to Proprotein Convertase 1/3 Deficiency ⁵⁷

Proprotein Convertase 1 Deficiency ⁷³

Pc1 Deficiency ⁷³

Characteristics:

Inheritance:

Proprotein Convertase 1/3 Deficiency: Autosomal recessive ⁵⁷

Obesity Due to Prohormone Convertase I Deficiency: Autosomal recessive ⁵⁸

Prevelance:

Obesity Due to Prohormone Convertase I Deficiency: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Obesity Due to Prohormone Convertase I Deficiency: Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
phenotypic variability

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁸

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

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Summaries for Proprotein Convertase 1/3 Deficiency

Orphanet: ⁵⁸ A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.

MalaCards based summary: Proprotein Convertase 1/3 Deficiency, also known as obesity due to prohormone convertase i deficiency, is related to diabetes insipidus, neurohypophyseal and central diabetes insipidus, 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 increased adipose tissue and polyphagia

OMIM®: ⁵⁷ Proprotein convertase-1/3 deficiency is an autosomal recessive disorder characterized by neonatal severe generalized malabsorptive diarrhea and failure to thrive. As the disease progresses, additional endocrine abnormalities develop, including diabetes insipidus, growth hormone deficiency, primary hypogonadism, adrenal insufficiency, and hypothyroidism (summary by Wilschanski et al., 2014). (600955) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has material basis in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15.

UniProtKB/Swiss-Prot: ⁷³ Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.

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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:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	diabetes insipidus, neurohypophyseal	10.3
2	central diabetes insipidus	10.3
3	diarrhea	10.3
4	hypothyroidism	10.3
5	hypogonadism	10.3
6	diabetes insipidus	10.3
7	hypogonadotropic hypogonadism 7 with or without anosmia	10.2
8	hypogonadism, male	10.2
9	pseudovaginal perineoscrotal hypospadias	10.2
10	body mass index quantitative trait locus 11	10.2
11	diabetes mellitus, ketosis-prone	10.2
12	premature ovarian failure 7	10.2
13	hypogonadotropic hypogonadism	10.2
14	diabetes mellitus	10.2
15	hypoglycemia	10.2
16	growth hormone deficiency	10.2
17	penis agenesis	10.2
18	leptin deficiency or dysfunction	10.1
19	isolated gonadotropin-releasing hormone deficiency	10.1
20	body mass index quantitative trait locus 12	10.1	PCSK1 LOC101929710
21	diarrhea 8, secretory sodium, congenital	10.0	NEUROG3 MYO5B
22	diarrhea 5, with tufting enteropathy, congenital	10.0	NEUROG3 MYO5B
23	diarrhea 4, malabsorptive, congenital	9.9	PCSK1 NEUROG3 MYO5B
24	combined oxidative phosphorylation deficiency 23	9.9	GTPBP3 ATP13A4
25	congenital diarrhea	9.9	NEUROG3 MYO5B
26	microvillus inclusion disease	9.8	NEUROG3 MYO5B

Graphical network of the top 20 diseases related to Proprotein Convertase 1/3 Deficiency:

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Symptoms & Phenotypes for Proprotein Convertase 1/3 Deficiency

Human phenotypes related to Proprotein Convertase 1/3 Deficiency:

⁵⁸ ³⁰ (show all 26)

#	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	Occasional (7.5%)		HP:0000824
17	obesity ⁵⁸ ³⁰		Obligate (100%)	HP:0001513
18	malabsorption ³⁰			HP:0002024
19	growth delay ⁵⁸		Occasional (29-5%)
20	primary amenorrhea ³⁰			HP:0000786
21	diarrhea ³⁰			HP:0002014
22	growth hormone deficiency ⁵⁸		Occasional (29-5%)
23	villous atrophy ³⁰			HP:0011473
24	decreased circulating cortisol level ³⁰			HP:0008163
25	reactive hypoglycemia ³⁰			HP:0012051
26	hypogonadotropic hypogonadism ³⁰			HP:0000044

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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

Cochrane evidence based reviews: 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	Obesity Due to Prohormone Convertase I Deficiency ²⁸	PCSK1

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Anatomical Context for Proprotein Convertase 1/3 Deficiency

Organs/tissues related to Proprotein Convertase 1/3 Deficiency:

MalaCards : Small Intestine, Pituitary, Skin, Bone

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Publications for Proprotein Convertase 1/3 Deficiency

Articles related to Proprotein Convertase 1/3 Deficiency:

(show all 18)

#	Title	Authors	PMID	Year
1	A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature Review. ⁶² ⁵⁷ ⁵	Pepin L...Coutant R	30383237	2019
2	Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. ⁶² ⁵⁷ ⁵	Martin MG...Georgia S	23562752	2013
3	Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. ⁶² ⁵⁷ ⁵	Jackson RS...O'Rahilly S	14617756	2003
4	A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. ⁵⁷ ⁵	Wilschanski M...Elpeleg O	25272002	2014
5	Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. ⁵⁷ ⁵	Farooqi IS...Creemers JW	17595246	2007
6	Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. ⁵⁷ ⁵	Jackson RS...O'Rahilly S	9207799	1997
7	Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. ⁵⁷	Yourshaw M...Martin MG	24280991	2013
8	Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. ⁵⁷	O'Rahilly S...Carr C	7477119	1995
9	Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. ⁵⁷	Naggert JK...Leiter EH	7663508	1995
10	Proprotein Convertase 1/3 Deficiency. ⁶²	Kumar G...Sohal APS	28965329	2018
11	Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy. ⁶²	Gonc EN...Kandemir N	28588004	2017
12	Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. ⁶²	Burnett LC...Leibel RL	27941249	2017
13	Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? ⁶²	Polex-Wolf J...O'Rahilly S	27941250	2017
14	Role of polycystin-1 in bone remodeling: orthodontic tooth movement study in mutant mice. ⁶²	Shalish M...Olsen BR	24559508	2014
15	Polycystin-1 mediates mechanical strain-induced osteoblastic mechanoresponses via potentiation of intracellular calcium and Akt/β-catenin pathway. ⁶²	Wang H...Zhang W	24618832	2014
16	A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fat. ⁶²	Mbikay M...Chretien M	17490633	2007
17	Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice. ⁶²	Lloyd DJ...Gekakis N	16644867	2006
18	Curbing activation: proprotein convertases in homeostasis and pathology. ⁶²	Taylor NA...Creemers JW	12832286	2003

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Genes for Proprotein Convertase 1/3 Deficiency

Genes related to Proprotein Convertase 1/3 Deficiency (2 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PCSK1	Proprotein Convertase Subtilisin/Kexin Type 1	Protein Coding	1690.19	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)	9207799 14617756 17595246 (more) 23562752 25272002 30383237
2	LOC101929710	Uncharacterized LOC101929710	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	9207799 14617756 17595246 (more) 23562752 25272002 30383237
3	NEUROG3	Neurogenin 3	Protein Coding	5.24	DISEASES inferred ¹⁴
4	GTF3C2	General Transcription Factor IIIC Subunit 2	Protein Coding	5.14	DISEASES inferred ¹⁴
5	ATP13A4	ATPase 13A4	Protein Coding	4.86	DISEASES inferred ¹⁴
6	PPIP5K2	Diphosphoinositol Pentakisphosphate Kinase 2	Protein Coding	4.82	DISEASES inferred ¹⁴
7	FBXL17	F-Box And Leucine Rich Repeat Protein 17	Protein Coding	4.77	DISEASES inferred ¹⁴
8	MYO5B	Myosin VB	Protein Coding	4.76	DISEASES inferred ¹⁴
9	SLC2A7	Solute Carrier Family 2 Member 7	Protein Coding	4.64	DISEASES inferred ¹⁴
10	GTPBP3	GTP Binding Protein 3, Mitochondrial	Protein Coding	4.56	DISEASES inferred ¹⁴
11	GH1	Growth Hormone 1	Protein Coding	4.55	DISEASES inferred ¹⁴
12	RHOBTB3	Rho Related BTB Domain Containing 3	Protein Coding	4.49	DISEASES inferred ¹⁴
13	PPIP5K1	Diphosphoinositol Pentakisphosphate Kinase 1	Protein Coding	4.39	DISEASES inferred ¹⁴

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Variations for Proprotein Convertase 1/3 Deficiency

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

⁵ (show top 50) (show all 109)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter)	SNV	Pathogenic	14038	rs137852822	GRCh37: 5:95748156-95748156 GRCh38: 5:96412452-96412452
2	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.638_640del (p.Ala213del)	DEL	Pathogenic	14039	rs137852823	GRCh37: 5:95751806-95751808 GRCh38: 5:96416102-96416104
3	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu)	SNV	Pathogenic	14041	rs137852824	GRCh37: 5:95746653-95746653 GRCh38: 5:96410949-96410949
4	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.958dup (p.Asp320fs)	DUP	Pathogenic	1323428		GRCh37: 5:95746614-95746615 GRCh38: 5:96410910-96410911
5	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter)	SNV	Pathogenic	995956	rs765019354	GRCh37: 5:95764964-95764964 GRCh38: 5:96429260-96429260
6	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg)	SNV	Pathogenic	14036	rs137852821	GRCh37: 5:95734724-95734724 GRCh38: 5:96399020-96399020
7	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.620+4A>C	SNV	Pathogenic	14037	rs1580764441	GRCh37: 5:95757580-95757580 GRCh38: 5:96421876-96421876
8	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter)	SNV	Pathogenic	1710315		GRCh37: 5:95757609-95757609 GRCh38: 5:96421905-96421905
9	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys)	SNV	Pathogenic	1710314		GRCh37: 5:95746646-95746646 GRCh38: 5:96410942-96410942
10	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1095+1G>T	SNV	Pathogenic	1723149		GRCh37: 5:95746477-95746477 GRCh38: 5:96410773-96410773
11	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1095+1G>A	SNV	Pathogenic	1723150		GRCh37: 5:95746477-95746477 GRCh38: 5:96410773-96410773
12	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer)	DEL	Pathogenic	1723151		GRCh37: 5:95735734-95735737 GRCh38: 5:96400030-96400033
13	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter)	SNV	Likely Pathogenic	1333251		GRCh37: 5:95734622-95734622 GRCh38: 5:96398918-96398918
14	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter)	SNV	Likely Pathogenic	1333563		GRCh37: 5:95751771-95751771 GRCh38: 5:96416067-96416067
15	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln)	SNV	Likely Pathogenic	1339324		GRCh37: 5:95735774-95735774 GRCh38: 5:96400070-96400070
16	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.856A>T (p.Lys286Ter)	SNV	Likely Pathogenic	1319421		GRCh37: 5:95748048-95748048 GRCh38: 5:96412344-96412344
17	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.62_75del (p.Ala21fs)	DEL	Likely Pathogenic	1324864		GRCh37: 5:95768672-95768685 GRCh38: 5:96432968-96432981
18	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.164del (p.Tyr55fs)	DEL	Likely Pathogenic	1324865		GRCh37: 5:95768583-95768583 GRCh38: 5:96432879-96432879
19	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg)	SNV	Likely Pathogenic	807458	rs1580744791	GRCh37: 5:95733074-95733074 GRCh38: 5:96397370-96397370
20	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro)	SNV	Likely Pathogenic	807459	rs1580746829	GRCh37: 5:95735741-95735741 GRCh38: 5:96400037-96400037
21	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*1967C>T	SNV	Uncertain Significance	904442	rs41276267	GRCh37: 5:95726738-95726738 GRCh38: 5:96391034-96391034
22	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*438C>A	SNV	Uncertain Significance	904501	rs750185441	GRCh37: 5:95728267-95728267 GRCh38: 5:96392563-96392563
23	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile)	SNV	Uncertain Significance	432315	rs1026383684	GRCh37: 5:95735682-95735682 GRCh38: 5:96399978-96399978
24	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val)	SNV	Uncertain Significance	904569	rs140481124	GRCh37: 5:95735742-95735742 GRCh38: 5:96400038-96400038
25	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1146G>A (p.Ser382=)	SNV	Uncertain Significance	904570	rs762962091	GRCh37: 5:95743977-95743977 GRCh38: 5:96408273-96408273
26	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*245G>T	SNV	Uncertain Significance	905288	rs1759988394	GRCh37: 5:95728460-95728460 GRCh38: 5:96392756-96392756
27	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*170A>T	SNV	Uncertain Significance	905289	rs950364201	GRCh37: 5:95728535-95728535 GRCh38: 5:96392831-96392831
28	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*120C>T	SNV	Uncertain Significance	905290	rs915412736	GRCh37: 5:95728585-95728585 GRCh38: 5:96392881-96392881
29	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.993C>T (p.Ile331=)	SNV	Uncertain Significance	905358	rs1314225482	GRCh37: 5:95746580-95746580 GRCh38: 5:96410876-96410876
30	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.945T>C (p.Asp315=)	SNV	Uncertain Significance	905359	rs1183710202	GRCh37: 5:95746628-95746628 GRCh38: 5:96410924-96410924
31	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*1372C>G	SNV	Uncertain Significance	906824	rs764110111	GRCh37: 5:95727333-95727333 GRCh38: 5:96391629-96391629
32	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*1307A>G	SNV	Uncertain Significance	906825	rs554558654	GRCh37: 5:95727398-95727398 GRCh38: 5:96391694-96391694
33	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.2247G>A (p.Leu749=)	SNV	Uncertain Significance	906890	rs1760001769	GRCh37: 5:95728720-95728720 GRCh38: 5:96393016-96393016
34	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val)	SNV	Uncertain Significance	906891	rs544018373	GRCh37: 5:95728985-95728985 GRCh38: 5:96393281-96393281
35	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.559T>C (p.Tyr187His)	SNV	Uncertain Significance	906971	rs757534603	GRCh37: 5:95757645-95757645 GRCh38: 5:96421941-96421941
36	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.541T>C (p.Tyr181His)	SNV	Uncertain Significance	906972	rs145592525	GRCh37: 5:95759019-95759019 GRCh38: 5:96423315-96423315
37	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.524C>T (p.Thr175Met)	SNV	Uncertain Significance	906973	rs140520429	GRCh37: 5:95759036-95759036 GRCh38: 5:96423332-96423332
38	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.375G>A (p.Met125Ile)	SNV	Uncertain Significance	906974	rs146545244	GRCh37: 5:95761545-95761545 GRCh38: 5:96425841-96425841
39	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2636C>T	SNV	Uncertain Significance	907765	rs1442234605	GRCh37: 5:95726069-95726069 GRCh38: 5:96390365-96390365
40	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2634G>A	SNV	Uncertain Significance	907766	rs1050484297	GRCh37: 5:95726071-95726071 GRCh38: 5:96390367-96390367
41	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2611A>G	SNV	Uncertain Significance	907767	rs746472388	GRCh37: 5:95726094-95726094 GRCh38: 5:96390390-96390390
42	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2582A>G	SNV	Uncertain Significance	907768	rs1470735979	GRCh37: 5:95726123-95726123 GRCh38: 5:96390419-96390419
43	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2187G>A	SNV	Uncertain Significance	907769	rs191960713	GRCh37: 5:95726518-95726518 GRCh38: 5:96390814-96390814
44	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*2115G>A	SNV	Uncertain Significance	907770	rs147244631	GRCh37: 5:95726590-95726590 GRCh38: 5:96390886-96390886
45	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*1132C>T	SNV	Uncertain Significance	907815	rs139172738	GRCh37: 5:95727573-95727573 GRCh38: 5:96391869-96391869
46	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.*974A>G	SNV	Uncertain Significance	907816	rs1039266884	GRCh37: 5:95727731-95727731 GRCh38: 5:96392027-96392027
47	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1884+13C>G	SNV	Uncertain Significance	907878	rs369199804	GRCh37: 5:95730555-95730555 GRCh38: 5:96394851-96394851
48	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1884+11C>T	SNV	Uncertain Significance	907879	rs1389335567	GRCh37: 5:95730557-95730557 GRCh38: 5:96394853-96394853
49	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala)	SNV	Uncertain Significance	907880	rs1760081033	GRCh37: 5:95730672-95730672 GRCh38: 5:96394968-96394968
50	PCSK1, LOC101929710	NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg)	SNV	Uncertain Significance	907946	rs765217767	GRCh37: 5:95768626-95768626 GRCh38: 5:96432922-96432922

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

⁷³

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

Sources

Expression for Proprotein Convertase 1/3 Deficiency

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

Sources

Pathways for Proprotein Convertase 1/3 Deficiency

Sources

GO Terms for Proprotein Convertase 1/3 Deficiency

Biological processes related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	inositol phosphate metabolic process	GO:0043647	9.46	PPIP5K2 PPIP5K1
2	inositol phosphate biosynthetic process	GO:0032958	9.26	PPIP5K2 PPIP5K1
3	inositol metabolic process	GO:0006020	8.92	PPIP5K2 PPIP5K1

Molecular functions related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleotide binding	GO:0000166	9.91	RHOBTB3 PPIP5K2 PPIP5K1 MYO5B GTPBP3 ATP13A4
2	inositol hexakisphosphate kinase activity	GO:0000828	9.71	PPIP5K2 PPIP5K1
3	inositol-1,3,4,5,6-pentakisphosphate kinase activity	GO:0000827	9.67	PPIP5K1 PPIP5K2
4	inositol heptakisphosphate kinase activity	GO:0000829	9.62	PPIP5K1 PPIP5K2
5	inositol hexakisphosphate 5-kinase activity	GO:0000832	9.56	PPIP5K1 PPIP5K2
6	inositol hexakisphosphate 3-kinase activity	GO:0052724	9.46	PPIP5K2 PPIP5K1
7	diphosphoinositol-pentakisphosphate kinase activity	GO:0102092	9.4	PPIP5K2 PPIP5K1
8	diphosphoinositol-pentakisphosphate kinase activity	GO:0033857	9.4	PPIP5K2 PPIP5K1
9	inositol hexakisphosphate 1-kinase activity	GO:0052723	9.26	PPIP5K2 PPIP5K1

Sources

Sources for Proprotein Convertase 1/3 Deficiency

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

PC1 DEFICIENCY MCID: PRP098 MIFTS: 42	Proprotein Convertase 1/3 Deficiency (PC1 DEFICIENCY) Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Proprotein Convertase 1/3 Deficiency (PC1 DEFICIENCY)

Aliases & Classifications for Proprotein Convertase 1/3 Deficiency

MalaCards integrated aliases for Proprotein Convertase 1/3 Deficiency:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

OMIM®:

Classifications:

External Ids:

Summaries for Proprotein Convertase 1/3 Deficiency

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:

Graphical network of the top 20 diseases related to Proprotein Convertase 1/3 Deficiency:

Symptoms & Phenotypes for Proprotein Convertase 1/3 Deficiency

Human phenotypes related to Proprotein Convertase 1/3 Deficiency:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Proprotein Convertase 1/3 Deficiency:

Drugs & Therapeutics for Proprotein Convertase 1/3 Deficiency

Cochrane evidence based reviews: proprotein convertase 1 3 deficiency

Genetic Tests for Proprotein Convertase 1/3 Deficiency

Genetic tests related to Proprotein Convertase 1/3 Deficiency:

Anatomical Context for Proprotein Convertase 1/3 Deficiency

Organs/tissues related to Proprotein Convertase 1/3 Deficiency:

Publications for Proprotein Convertase 1/3 Deficiency

Articles related to Proprotein Convertase 1/3 Deficiency:

Genes for Proprotein Convertase 1/3 Deficiency

Genes related to Proprotein Convertase 1/3 Deficiency (2 elite genes):

Variations for Proprotein Convertase 1/3 Deficiency

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

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

Expression for Proprotein Convertase 1/3 Deficiency

Pathways for Proprotein Convertase 1/3 Deficiency

GO Terms for Proprotein Convertase 1/3 Deficiency

Biological processes related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:

Molecular functions related to Proprotein Convertase 1/3 Deficiency according to GeneCards Suite gene sharing:

Sources for Proprotein Convertase 1/3 Deficiency