ORPHA:742
Prolidase deficiency
Synonyms: Hyperimidodipeptiduria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prolidase deficiency | Hyperimidodipeptiduria |
| fr | Déficit en prolidase | Hyperimidodipeptidurie |
| de | Prolidase-Mangel | Hyperimidodipeptidurie |
| es | Deficiencia de prolidasa | |
| it | Deficit di prolidasi | Iperimidodipeptiduria |
| nl | Prolidasedeficiëntie | Hyperimidodipeptidurie |
| pt | Deficiência de prolidase | Hiperimidopeptidúria |
| pl | Niedobór prolidazy | Hiperimidodipeptiduria |
| cs | Deficit prolidázy | Hyperimidodipeptidurie |
| uk | Дефіцит пролідази | Гіперімідодипептидурія |
| zh | 氨酰基脯氨酸二肽酶缺乏症 | 氨酰基脯氨酸二肽酶缺乏症 |
| tr | Prolidaz eksikliği | Hiperimidodipeptidüri |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 170100 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.F0 | E | specific | validated |
| MONDO | 0008221 | E | validated | |
| MeSH | D056732 | E | validated | |
| UMLS | C0268532 | E | validated | |
| GARD | 7473 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:79187Disorder of peptide metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:79387Metabolic disease with skin involvement
rare genetic diseases; rare skin diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PEPD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8840 | ENSG00000124299 | 613230 | 19q13.11 | peptidase D | 18340504[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 90 cases | Worldwide | Case(s) | Validated | 26110198[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | Dr Heng Wang[EXPERT]_ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.08 / 100 000 | Canada | Value and class | Validated | ISBN:978-2-550-55181-2[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002715 | Abnormality of the immune system | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000670 | Carious teeth | |
| HP:0007473 | Crusting erythematous dermatitis | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000958 | Dry skin | |
| HP:0010783 | Erythema | |
| HP:0000365 | Hearing impairment | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0200034 | Papule | |
| HP:0000989 | Pruritus | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0200042 | Skin ulcer | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001166 | Arachnodactyly | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002230 | Generalized hirsutism | |
| HP:0002857 | Genu valgum | |
| HP:0001007 | Hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0000294 | Low anterior hairline | |
| HP:0000347 | Micrognathia | |
| HP:0000505 | Visual impairment | |
| HP:0002211 | White forelock | |
| Occasional (29-5%) | ||
| HP:0002240 | Hepatomegaly | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001249 | Intellectual disability | |
| HP:0000520 | Proptosis | |
| HP:0012786 | Recurrent cystitis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/742
- This record as JSON: /data/d/742.json