Prolidase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Hyperimidodipeptiduria
Number of Symptoms 66
OrphanetNr: 742
OMIM Id: 170100
ICD-10: E72.8
UMLs: C0268532
C1534653
MeSH: D056732
MedDRA:
Snomed: 360994007
361010007
410055005

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of peptide metabolism
 -Rare genetic disease
Metabolic disease with skin involvement
 -Rare genetic disease
 -Rare skin disease
Syndromic lymphedema
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100577) Urinary bladder inflammation Occasional [Orphanet] 4 / 7739
2
 (HPO:0010650) Hypoplasia of the premaxilla Occasional [Orphanet] 39 / 7739
3
 (HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000294) Low anterior hairline Frequent [Orphanet] 52 / 7739
6
 (HPO:0000520) Proptosis Occasional [Orphanet] 192 / 7739
7
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
8
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
9
 (HPO:0011220) Prominent forehead 137 / 7739
10
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
11
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
12
 (HPO:0000444) Convex nasal ridge 87 / 7739
13
 (HPO:0002162) Low posterior hairline 88 / 7739
14
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
15
 (HPO:0003196) Short nose 264 / 7739
16
 (HPO:0000508) Ptosis 459 / 7739
17
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
18
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
19
 (HPO:0004452) Abnormality of the middle ear ossicles Very frequent [Orphanet] 26 / 7739
20
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
21
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
24
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
25
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
26
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
27
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
28
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
29
 (HPO:0006579) Prolonged neonatal jaundice 25 / 7739
30
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
31
 (HPO:0011365) Patchy hypopigmentation of hair Frequent [Orphanet] 8 / 7739
32
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
33
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
34
 (HPO:0007489) Diffuse telangiectasia 2 / 7739
35
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
36
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
37
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
38
 (HPO:0000992) Cutaneous photosensitivity Very frequent [Orphanet] 75 / 7739
39
 (HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
40
 (HPO:0000989) Pruritus Very frequent [Orphanet] 111 / 7739
41
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
42
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
43
 (HPO:0007473) Crusting erythematous dermatitis 1 / 7739
44
 (HPO:0000967) Petechiae 26 / 7739
45
 (HPO:0001873) Thrombocytopenia 224 / 7739
46
 (HPO:0001903) Anemia 289 / 7739
47
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
48
 (HPO:0002099) Asthma 62 / 7739
49
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
50
 (HPO:0006528) Chronic lung disease 5 / 7739
51
 (HPO:0006532) Recurrent pneumonia 48 / 7739
52
 (HPO:0002719) Recurrent infections 107 / 7739
53
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
54
 (HPO:0002725) Systemic lupus erythematosus 14 / 7739
55
 (OMIM) Impetigo-like eruptions 1 / 7739
56
 (OMIM) Deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts 1 / 7739
57
 (OMIM) Pruritic eczematous lesions 1 / 7739
58
 (OMIM) Upward or downward slanting palpebral fissures 1 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (OMIM) Low nasal root 3 / 7739
61
 (OMIM) Hyperimidodipeptiduria 1 / 7739
62
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
63
 (OMIM) Severe progressive ulceration of lower extremities 1 / 7739
64
 (OMIM) Elevated immunoglobulins, particularly IgE 1 / 7739
65
 (OMIM) Slender upper lip 1 / 7739
66
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, ...
Diagnosis OMIM Kurien et al. (2006) described the biochemical diagnostic techniques for prolidase deficiency.
Clinical Description OMIM Powell et al. (1974) described a patient who excreted massive amounts of glycyl-L-proline and other di- and tri-peptides containing proline. Prolidase, the enzyme known to cleave the bond between the other amino acid and proline (which is carboxyl-terminal), ...
Molecular genetics OMIM In 2 unrelated patients with prolidase deficiency, Tanoue et al. (1990) identified homozygosity for a mutation in the PEPD gene (613230.0001).

Ledoux et al. (1994) described 4 mutant PEPD alleles associated with prolidase deficiency and Ledoux ...
Population genetics OMIM Falik-Zaccai et al. (2010) identified the same PEPD mutation (S202F; 613230.0011) in 17 patients from northern Israel with prolidase deficiency. The patients were from 6 Druze kindreds living in 4 different villages and from 2 Arab Muslim kindreds ...