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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Permanent neonatal diabetes mellitus
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

ABCC8 APP
GCK
INS
KCNJ11
PDX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
INS
(0.56)
APP



Citations in the biomedical literature:


Permanent neonatal diabetes mellitus
ABCC8 GCK INS KCNJ11 PDX1
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Permanent neonatal diabetes mellitus
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
- PNDM

Synonym(s):
- HCHWA, Piedmont type

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Certain conditions originating in the perinatal period -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality


Permanent neonatal diabetes mellitus

(no data available)