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Congenital analbuminemia
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Aspartylglucosaminuria
1 OMIM reference -
1 associated gene
41 signs/symptoms
Congenital analbuminemia
Aspartylglucosaminuria

ALB
(UniProt - OMIM)
 AGA
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ALB
(0.73)
AGA


Citations in the biomedical literature:


Congenital analbuminemia
ALB
Aspartylglucosaminuria
AGA



Congenital analbuminemia
Aspartylglucosaminuria

Synonym(s):
(no synonyms)

Synonym(s):
- Aspartylglucosaminidase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C538402 / D054880
Aspartylglucosaminuria

Very frequent
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Facial dysmorphism
- Hyperkinesia / dyskinesia
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large face
- Metabolic anomalies
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Prognathism / prognathia
- Scoliosis
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Storage liver disease
- Thick lips
- Thickened / hypertrophic / fibromatous gingivae
- Umbilical hernia

Frequent
- Abnormal vertebral size / shape
- Anomalies of teeth and dentition
- Coarse face
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Macroorchidism / macrotestes
- Multiple caries
- Pectus carinatum
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray

Occasional
- Anomalies of bones / skeletal anomalies
- Arthritis / synovitis / synovial proliferation
- Chronic / relapsing otitis
- Flat foot
- Hepatomegaly / liver enlargement (excluding storage disease)
- Inguinal / inguinoscrotal / crural hernia
- Malabsorption / chronic diarrhea / steatorrhea
- Psychic / behavioural troubles
- Repeat respiratory infections
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sleep and vigilance disorders
- Splenomegaly
- Vascular anomalies of skin / mucosae


Congenital analbuminemia

(no data available)