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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Alpha-1-antitrypsin deficiency
Amyotrophic lateral sclerosis

SERPINA1 ANG
ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SERPINA1
(0.63)
VCP



Citations in the biomedical literature:


Alpha-1-antitrypsin deficiency
SERPINA1
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Alpha-1-antitrypsin deficiency
Amyotrophic lateral sclerosis

Synonym(s):
(no synonyms)

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
- Rare renal disease
- Rare respiratory disease
Classification (Orphanet):
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
2 MeSH references: C531610 / D019896
External references:
16 OMIM references -
1 MeSH reference: D000690

Alpha-1-antitrypsin deficiency

Very frequent
- Autosomal recessive inheritance
- Emphysema
- Hepatocellular liver disease / hepatic failure

Frequent
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)

Occasional
- Nephrotic syndrome


Amyotrophic lateral sclerosis

(no data available)