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PC1 DEFICIENCY
MCID: PRP098
MIFTS: 29

Proprotein Convertase 1/3 Deficiency (PC1 DEFICIENCY)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Proprotein Convertase 1/3 Deficiency

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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
Orphanet: 59  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


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Summaries for Proprotein Convertase 1/3 Deficiency

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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, skin and pituitary, and related phenotypes are obesity and failure to thrive

Description from OMIM: 600955
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Related Diseases for Proprotein Convertase 1/3 Deficiency

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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 10.3
2 diabetes mellitus 10.3
3 diarrhea 10.3
4 body mass index quantitative trait locus 12 9.7 LOC101929710 PCSK1

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Symptoms & Phenotypes for Proprotein Convertase 1/3 Deficiency

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

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

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Genetic Tests for Proprotein Convertase 1/3 Deficiency

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Genetic tests related to Proprotein Convertase 1/3 Deficiency:

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

Anatomical Context for Proprotein Convertase 1/3 Deficiency

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

41
Small Intestine, Skin, Pituitary
Sources

Publications for Proprotein Convertase 1/3 Deficiency

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Articles related to Proprotein Convertase 1/3 Deficiency:

# Title Authors Year
1
A NEW CASE OF PCSK1 PATHOGENIC VARIANT WITH CONGENITAL PROPROTEIN CONVERTASE 1/3 DEFICIENCY AND LITERATURE REVIEW. ( 30383237 )
2018
2
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 )
2017
3
Proprotein Convertase 1/3 Deficiency. ( 28965329 )
2017
4
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. ( 23562752 )
2013
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Variations for Proprotein Convertase 1/3 Deficiency

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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 GRCh37 Chromosome 5, 95726972: 95726972
37 PCSK1 NM_000439.4(PCSK1): c.*1733G> A single nucleotide variant Uncertain significance rs189919167 GRCh38 Chromosome 5, 96391268: 96391268
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

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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