Page last updated: 2024-09-27

Hyperimidodipeptiduria

Rare autosomal recessive disorder of metabolism due to mutations in the prolidase gene. It is characterized by recurrent lower extremity skin ulcers, recurrent infections, and FACIES, often with INTELLECTUAL DISABILITY.

Synonyms(3)

Synonym
Imidodipeptidase Deficiency
Hyperimidodipeptiduria
Prolidase Deficiency

Research Excerpts

Overview

ExcerptReference
"Prolidase deficiency is characterized by chronic ulcerative dermatitis, mental retardation, and frequent infections."( Chi, H; Kitaoka, N; Kodama, H; Liu, G; Lu, J; Nakayama, K; Tong, J; Yamashita, K, 2009)
"Prolidase deficiency is a rare autosomal recessive disease in humans with a broad phenotypic spectrum not reported to include heart defects, but a conserved role for prolidase in heart development was confirmed by morpholino knockdown in zebrafish."( Borchert, GL; Gunn, TM; Jung, S; Millet, YH; Nolan, KA; Phang, JM; Silvius, D, 2011)
"Prolidase deficiency is a rare autosomal recessive disorder characterized by cutaneous ulcers, facial dysmorphism, recurrent infections, and intellectual disability."( Good, AJ; Nielson, CB; Schoch, JJ, 2019)
"Prolidase deficiency is a rare cause of chronic ulceration with less than 100 reported cases in the literature."( Anderson, E; Cathcart, C; Gossan, N; Hanley, T; Thompson, B, 2022)
"Prolidase deficiency is an autosomal recessive disease that causes impaired collagen degradation."( Ido, F; Longo, S; Ramzy, J; Tessier, S; Yoder, N, 2023)

Treatment

ExcerptReference
"Cutaneous ulcers due to prolidase deficiency are historically resistant to treatment, and we report success with the novel use of topical tacrolimus."( Good, AJ; Nielson, CB; Schoch, JJ, 2019)

Research

Studies (15)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's1 (6.67)18.1394
2010's10 (66.67)28.8240
2020's4 (26.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
aspirin0low10
hydroxychloroquine0low10
prednisolone0low10
hydroxyproline0low10
methylprednisolone0low10
manganese0low30
methotrexate0low10
proline0low70
tacrolimus0low20
mycophenolic acid0low10
ascorbic acid0low10

Protein Targets (337)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, Hyaluronidase, phage associated0101
acetylcholinesterase3003
RAR-related orphan receptor gamma3003
GLI family zinc finger 33003
AR protein8008
thioredoxin glutathione reductase1001
cytochrome P450 family 3 subfamily A polypeptide 43003
glucocorticoid receptor [Homo sapiens]6006
retinoic acid nuclear receptor alpha variant 13003
estrogen-related nuclear receptor alpha6006
estrogen nuclear receptor alpha7007
vitamin D (1,25- dihydroxyvitamin D3) receptor3003
IDH14004
euchromatic histone-lysine N-methyltransferase 24004
chromobox protein homolog 12002
nuclear factor erythroid 2-related factor 2 isoform 25005
thyroid hormone receptor beta isoform 24004
nuclear factor erythroid 2-related factor 2 isoform 13003
lethal(3)malignant brain tumor-like protein 1 isoform I1001
geminin5005
lethal factor (plasmid)4004
lamin isoform A-delta105005
Polyphenol oxidase 20101
Pancreatic alpha-amylase0202
Albumin0101
Urease0101
Prolyl 4-hydroxylase subunit alpha-10001
Tyrosinase0101
Alpha-2B adrenergic receptor0112
Spike glycoprotein3014
Hyaluronate lyase0101
Prolyl hydroxylase EGLN20001
Egl nine homolog 10001
Prolyl hydroxylase EGLN30001
Hypoxia-inducible factor 1-alpha inhibitor0001
Solute carrier family 23 member 10101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Phospholipase A2 isoform 30011
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, 2-oxoglutarate Oxygenase3003
GTP-binding protein (rab7)0011
ras protein, partial0011
interleukin 81001
thioredoxin reductase2002
GLS protein1001
aldehyde dehydrogenase 1 family, member A13003
thyroid stimulating hormone receptor1001
hypothetical protein, conserved1001
EWS/FLI fusion protein3003
cytochrome P450 2D61001
glucocerebrosidase1001
peroxisome proliferator-activated receptor delta3003
Rac1 protein0011
cell division cycle 42 (GTP binding protein, 25kDa), partial0011
Bloom syndrome protein isoform 12002
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 13003
DNA polymerase iota isoform a (long)2002
DNA polymerase kappa isoform 13003
muscarinic acetylcholine receptor M11001
Prostaglandin-H2 D-isomerase0101
ATP-binding cassette sub-family C member 30505
Multidrug resistance-associated protein 40506
Solute carrier family 22 member 60101
Prostaglandin G/H synthase 1 0101
Prostaglandin G/H synthase 2 0101
Bile salt export pump0505
Epidermal growth factor receptor0101
Carbonic anhydrase 10202
Carbonic anhydrase 20213
Fatty acid-binding protein, liver0202
Integrin beta-31102
Myeloperoxidase0101
Prostaglandin G/H synthase 10101
Seed linoleate 13S-lipoxygenase-10101
Integrin alpha-IIb1102
Glutathione hydrolase 1 proenzyme0101
Prostaglandin G/H synthase 10202
Adenosine receptor A10101
Adenosine receptor A2a0101
Substance-P receptor0101
Prostaglandin G/H synthase 20303
Urotensin-2 receptor0101
4-aminobutyrate aminotransferase, mitochondrial0101
Nuclear receptor ROR-gamma1001
Ras-related protein Rab-2A0011
Gamma-aminobutyric acid receptor subunit alpha-11102
Prostaglandin G/H synthase 20101
Rho-associated protein kinase 20101
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200202
Solute carrier family 22 member 60202
Canalicular multispecific organic anion transporter 10505
Sigma non-opioid intracellular receptor 10112
Sigma non-opioid intracellular receptor 10011
Glycine receptor subunit alpha-10011
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Glutamate receptor ionotropic, NMDA 1 0314
Sodium- and chloride-dependent glycine transporter 10101
Glutamate receptor ionotropic, NMDA 2A 0213
Glutamate receptor ionotropic, NMDA 2B0213
Glutamate receptor ionotropic, NMDA 2C0213
Large neutral amino acids transporter small subunit 10101
Glutamate receptor ionotropic, NMDA 2D0213
Proton-coupled amino acid transporter 10303
Glutamate receptor ionotropic, NMDA 3B0213
Serine racemase0101
Olfactory receptor 51E20011
Glutamate receptor ionotropic, NMDA 3A0213
Sodium- and chloride-dependent glycine transporter 20101
Genome polyprotein 0101
Spike glycoprotein0011
Replicase polyprotein 1ab0011
Transmembrane protease serine 20011
Procathepsin L0011
Muscarinic acetylcholine receptor M20202
Muscarinic acetylcholine receptor M40101
Muscarinic acetylcholine receptor M50101
Alpha-2A adrenergic receptor0101
Replicase polyprotein 1a0011
Replicase polyprotein 1ab0011
Replicase polyprotein 1ab0112
Replicase polyprotein 1ab0112
Muscarinic acetylcholine receptor M10101
Alpha-2C adrenergic receptor0101
Muscarinic acetylcholine receptor M30101
Alpha-1D adrenergic receptor0202
Potassium voltage-gated channel subfamily H member 20101
Sigma intracellular receptor 20101
Cyclic GMP-AMP synthase0101
Angiotensin-converting enzyme 2 0011
Toll-like receptor 90101
Toll-like receptor 70101
Neutral amino acid transporter A0202
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0202
Amino acid transporter0202
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain B, DIHYDROFOLATE REDUCTASE0011
Chain A, Ferritin light chain2002
acid sphingomyelinase1001
dopamine D1 receptor1001
ClpP1001
15-lipoxygenase, partial1001
phosphopantetheinyl transferase1001
ATAD5 protein, partial1001
USP1 protein, partial2002
TDP1 protein4004
Microtubule-associated protein tau1001
estrogen receptor 2 (ER beta)2002
nuclear receptor subfamily 1, group I, member 32002
progesterone receptor4004
retinoid X nuclear receptor alpha3003
farnesoid X nuclear receptor2002
67.9K protein2002
peroxisome proliferator activated receptor gamma3003
Thymidylate synthase 0101
alpha-galactosidase1001
Thymidylate synthase 0101
Histone H2A.x2002
cellular tumor antigen p53 isoform a1001
polyunsaturated fatty acid lipoxygenase ALOX121001
vitamin D3 receptor isoform VDRA1001
transcriptional regulator ERG isoform 31001
importin subunit beta-1 isoform 11001
DNA polymerase beta1001
nuclear receptor coactivator 1 isoform 1 [Homo sapiens]0101
flap endonuclease 11001
snurportin-11001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 11001
DNA polymerase eta isoform 11001
transactivating tegument protein VP16 [Human herpesvirus 1]0101
peripheral myelin protein 223003
survival motor neuron protein isoform d2002
M-phase phosphoprotein 81001
muscleblind-like protein 1 isoform 12002
histone acetyltransferase KAT2A isoform 11001
caspase-1 isoform alpha precursor1001
nuclear receptor coactivator 3 isoform a0101
Toll-like receptor 40101
Fatty-acid amide hydrolase 10101
Bile salt export pump0101
ATP-binding cassette sub-family C member 30102
Voltage-dependent calcium channel gamma-2 subunit3003
Dihydrofolate reductase0203
Dihydrofolate reductase0203
Dihydrofolate reductase 0101
Dihydrofolate reductase0101
Dihydrofolate reductase0101
Dihydrofolate reductase0203
Thymidylate synthase0101
Tyrosine-protein kinase ABL10011
Cellular tumor antigen p534004
Thymidylate synthase0202
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Thymidylate synthase0202
5-hydroxytryptamine receptor 2C0102
High mobility group protein B10011
Dihydrofolate reductase0101
Thymidylate synthase0101
Dihydrofolate reductase0224
Glucose-6-phosphate 1-dehydrogenase0101
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Folate receptor beta0101
5-hydroxytryptamine receptor 2A0101
Cytochrome P450 11B1, mitochondrial 0101
Folate receptor alpha0101
Dihydrofolate reductase0202
Histidine decarboxylase0101
Glutamate receptor 23104
Trifunctional purine biosynthetic protein adenosine-30101
Cyclin-dependent kinase 20011
Bifunctional purine biosynthesis protein ATIC0202
Multidrug resistance-associated protein 1 0001
Delta-type opioid receptor0101
Mu-type opioid receptor0101
Kappa-type opioid receptor0101
Reduced folate transporter0202
Folylpolyglutamate synthase, mitochondrial0103
6-phosphogluconate dehydrogenase, decarboxylating0101
Caspase-71001
Solute carrier organic anion transporter family member 1A30001
Dihydrofolate reductase0101
Pteridine reductase 10101
Folylpolyglutamate synthase, mitochondrial0103
Bifunctional dihydrofolate reductase-thymidylate synthase0101
TAR DNA-binding protein 432002
Bifunctional dihydrofolate reductase-thymidylate synthase0101
Solute carrier family 22 member 60001
Canalicular multispecific organic anion transporter 10102
Trifunctional purine biosynthetic protein adenosine-30101
Dihydrofolate reductase 0101
Solute carrier family 22 member 80001
Dihydrofolate reductase0101
ATP-binding cassette sub-family C member 110001
Proton-coupled folate transporter0101
Multidrug resistance associated protein0102
ATPase family AAA domain-containing protein 55005
Ataxin-25005
Solute carrier organic anion transporter family member 1B30001
Solute carrier family 22 member 110001
Protein-arginine deiminase type-40101
Broad substrate specificity ATP-binding cassette transporter ABCG20102
ATP-dependent phosphofructokinase2002
hypoxia-inducible factor 1 alpha subunit2002
PPM1D protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nonstructural protein 11001
pregnane X nuclear receptor2002
G1001
bromodomain adjacent to zinc finger domain 2B1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a4004
nuclear receptor subfamily 1, group I, member 22002
Nuclear receptor subfamily 1 group I member 20022
Interferon beta2002
HLA class I histocompatibility antigen, B alpha chain 1001
Glucocorticoid receptor04110
Glycine receptor subunit alpha-10404
Androgen receptor0303
Glycine receptor subunit beta0404
Glycine receptor subunit alpha-20404
Glycine receptor subunit alpha-30404
Inositol hexakisphosphate kinase 11001
Nuclear receptor subfamily 1 group I member 20011
cytochrome P450 2C9, partial1001
Chain A, Inosine-5'-Monophosphate Dehydrogenase 20101
glp-1 receptor, partial1001
SMAD family member 21001
SMAD family member 31001
aryl hydrocarbon receptor2002
activating transcription factor 61001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
UDP-glucuronosyltransferase 1A90001
Inosine-5'-monophosphate dehydrogenase 20202
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Glutamate receptor 10101
Glutamate receptor 30101
Glutamate receptor 40101
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Inosine-5'-monophosphate dehydrogenase 1 0202
UDP-glucuronosyltransferase 1A1 0001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Sodium-dependent serotonin transporter0101
Peroxisome proliferator-activated receptor gamma0011
Alpha-synuclein1001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Inosine-5'-monophosphate dehydrogenase0102
GABA theta subunit1001
Gamma-aminobutyric acid receptor subunit epsilon1001
UDP-glucuronosyltransferase 1A70001
UDP-glucuronosyltransferase 1A100001
UDP-glucuronosyltransferase 1A80001
luciferase0001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Estrogen receptor0202
Progesterone receptor0203
Glucocorticoid receptor0112
Glucocorticoid receptor0011
Corticosteroid-binding globulin0101
Mineralocorticoid receptor 0213
Androgen receptor0202
Cytochrome P450 2C9 0101
Glutamine synthetase0011
Histamine H1 receptor0011
Nociceptin receptor0011
Cytochrome P450 2J20101
Estrogen receptor beta0202
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
nuclear receptor ROR-gamma isoform 11001
Cytochrome P450 3A40101
UDP-glucuronosyltransferase 2B70001
Cytochrome P450 3A50101
UDP-glucuronosyltransferase 1A40001
Serine/threonine-protein kinase mTOR0101
Peptidyl-prolyl cis-trans isomerase FKBP1A0213
Peptidyl-prolyl cis-trans isomerase FKBP1B0011
Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform0101
Peptidyl-prolyl cis-trans isomerase FKBP50101
Splicing factor 3B subunit 30101
Solute carrier organic anion transporter family member 1B10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]