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Hereditary metabolic diseases
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Hereditary metabolic diseases

Clinical feature: 

Definition: This group contains all types of metabolic disorders.

Systematic link table: 

Hereditary diseases
HIV resistance
CCR5
Hereditary bone disease
Hereditary broncho-pulmonary disease
Hereditary endocrinological diseases
Hereditary kidney diseases
Hereditary metabolic diseases
Disturbances of glucose metabolism
Diabetes mellitus
Diabetic nephropathy
ACE
AGT
AKR1B1
Diabetic retinopathy
PON1
VEGFA
MODY diabetes
MODY1 diabetes
HNF4A
MODY10 diabetes
INS
MODY2 diabetes
GCK
MODY3 diabetes
HNF1A
MODY4 diabetes
PDX1
MODY5 diabetes
HNF1B
MODY6 diabetes
NEUROD1
MODY7 diabetes
KLF11
MODY8 diabetes
CEL
MODY9 diabetes
PAX4
Neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
ABCC8
GCK
INS
KCNJ11
PDX1
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
Transient neonatal diabetes mellitus 1
ZFP57
Transient neonatal diabetes mellitus 2
ABCC8
Transient neonatal diabetes mellitus 3
KCNJ11
Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 1
ABCC8
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
GCK
Hyperinsulinemic hypoglycemia 4
HADH
Hyperinsulinemic hypoglycemia 5
INSR
Hyperinsulinemic hypoglycemia 6
GLUD1
Glycolipidosis
Inclusion body myopathy 2
GNE
Infantile sialic acid storage disorder
SLC17A5
Nonaka myopathy
GNE
Salla disease
SLC17A5
Sialuria
GNE
HADH deficiency
HADH
Hemochromatosis
HFE
Histamine Intolerance
ABP1
HNMT
Hyperlipidemia
APOB
APOC2
APOE
LDLR
LDLRAP1
LPL
Hypomagnesemia
EGFR
TRPM7
Gitelman syndrome
SLC12A3
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2
Lysosomal storage disease
Cystinosis
CTNS
Fabry disease
GLA
Infantile sialic acid storage disorder
SLC17A5
Salla disease
SLC17A5
Methionine adenosyltransferase deficiency
MAT1A
Urea cycle disorders
Citrullinemia
SLC25A13
Citrullinemia
Citrullinemia
SLC25A13
Citrullinemia type 1
ASS1
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary vascular disease
Hypertension
ACE
ACE2
AGT
hereditary diseases of the hematopoetic system and coagulopathies

Literature: 

Nield LS et al. (2006) Rickets: not a disease of the past.
Gillmore JD et al. (2006) Drug Insight: emerging therapies for amyloidosis.
Pietrangelo A et al. (2006) Hereditary hemochromatosis.
Hendriks YM et al. () Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.
Brady RO et al. (2006) Emerging strategies for the treatment of hereditary metabolic storage disorders.
Olsen KM et al. () Tumoral calcinosis: pearls, polemics, and alternative possibilities.
El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.