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
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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:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


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.

Related Diseases for Proprotein Convertase 1/3 Deficiency

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



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:

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

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

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

Anatomical Context for Proprotein Convertase 1/3 Deficiency

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

MalaCards : Small Intestine, Pituitary, Skin, Bone

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
30383237 2019
2
Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. 62 57 5
23562752 2013
3
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. 62 57 5
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
25272002 2014
5
Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. 57 5
17595246 2007
6
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. 57 5
9207799 1997
7
Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. 57
24280991 2013
8
Brief report: impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function. 57
7477119 1995
9
Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. 57
7663508 1995
10
Proprotein Convertase 1/3 Deficiency. 62
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
28588004 2017
12
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome. 62
27941249 2017
13
Impaired prohormone processing: a grand unified theory for features of Prader-Willi syndrome? 62
27941250 2017
14
Role of polycystin-1 in bone remodeling: orthodontic tooth movement study in mutant mice. 62
24559508 2014
15
Polycystin-1 mediates mechanical strain-induced osteoblastic mechanoresponses via potentiation of intracellular calcium and Akt/β-catenin pathway. 62
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
17490633 2007
17
Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice. 62
16644867 2006
18
Curbing activation: proprotein convertases in homeostasis and pathology. 62
12832286 2003

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

Expression for Proprotein Convertase 1/3 Deficiency

Search GEO for disease gene expression data 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:

# 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 for Proprotein Convertase 1/3 Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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