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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
40 signs/symptoms
Charcot-Marie-Tooth disease type 4D
Prolidase deficiency

NDRG1 PEPD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NDRG1
(0.63)
PEPD



Citations in the biomedical literature:


Charcot-Marie-Tooth disease type 4D
NDRG1
Prolidase deficiency
PEPD



Charcot-Marie-Tooth disease type 4D
Prolidase deficiency

Synonym(s):
- CMT4D
- HMSN, Lom type
- Hereditary motor and sensory neuropathy, Lom type

Synonym(s):
- Hyperimidodipeptiduria

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare circulatory system disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535716
External references:
1 OMIM reference -
1 MeSH reference: D056732

Prolidase deficiency

Very frequent
- Anomalies of ear and hearing
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Depressed nasal bridge
- Dry / squaly skin / exfoliation
- Facial dysmorphism
- Flat cheek bones / malar hypoplasia
- Follicular / erythematous / edematous papules / milium
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Multiple caries
- Palmoplantar hyperkeratosis / keratoderma
- Pruritus / itching
- Repeat respiratory infections
- Skin hypoplasia / aplasia / atrophy
- Skin photosensitivity
- Structural anomalies of middle ear / ossicles / tympanic cavity
- Thin skin

Frequent
- Flattened nose
- Genu valgum
- Hirsutism / hypertrichosis / Increased body hair
- Hypertelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long hand / arachnodactyly
- Low hair line-front
- Micrognathia / retrognathia / micrognathism / retrognathism
- Retinitis pigmentosa / retinal pigmentary changes
- Simian crease / transverse / unique palmar crease
- Thin / hypoplastic / hyperconvex fingernails
- Visual loss / blindness / amblyopia
- White forelock / piebaldism

Occasional
- Bladder inflammation / cystitis / painful / irritable bladder
- Depressed premaxillary region / midface
- Hepatomegaly / liver enlargement (excluding storage disease)
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proptosis / exophthalmos
- Splenomegaly


Charcot-Marie-Tooth disease type 4D

(no data available)