Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary metabolic diseases

This group contains all types of metabolic disorders.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
CP
Coenzyme Q10 deficiency
Coenzyme Q10 deficiency 1
COQ2
Coenzyme Q10 deficiency 2
PDSS1
Coenzyme Q10 deficiency 3
PDSS2
Coenzyme Q10 deficiency 4
COQ8A
Coenzyme Q10 deficiency 5
COQ9
Coenzyme Q10 deficiency 6
COQ6
Congenital disorder of glycosylation
Congenital disorder of glycosylation 1A
PMM2
Congenital disorder of glycosylation 1L
ALG9
Gillessen-Kaesbach-Nishimura syndrome
ALG9
Disorders of cobalamin metabolism
Homocystinuria-megaloblastic anemia cblE
MTRR
Homocystinuria-megaloblastic anemia cblG
MTR
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria and homocystinuria cblF
LMBRD1
Methylmalonic aciduria and homocystinuria cblJ
ABCD4
Methylmalonic aciduria cblA
MMAA
Methylmalonic aciduria cblB
MMAB
Methylmalonic aciduria type mut
MUT
Disorders of iron metabolism
Aceruloplasminemia/Hypoceruloplasminemia
CP
Hemochromatosis
Hemochromatosis 1
BMP2
HFE
Hemochromatosis 2a
HFE2
Hemochromatosis 2b
HAMP
Hemochromatosis 3
TFR2
Hemochromatosis 4
SLC40A1
Hemochromatosis 5
FTH1
Hyperferritinemia-cataract syndrome
FTL
L-ferritin deficiency
FTL
Neurodegeneration with brain iron accumulation 3
FTL
Disorders of urate metabolism
Gout PRPS-related
PRPS1
Hyperuricemia
Gout susceptibility 1
ABCG2
Hyperuricemic nephropathy
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Hyperuricemic nephropathy, familial juvenile 2
REN
Kelley-Seegmiller syndrome
HPRT1
Lesch-Nyhan syndrome
HPRT1
Hypouricemia
Renal Hypouricemia
SLC22A12
SLC2A9
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Disturbances in phosphate metabolism
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Hypophosphatasia
Adult hypophosphatasia
ALPL
Childhood hypophosphatasia
ALPL
Infantile hypophosphatasia
ALPL
Odontohypophosphatasia
ALPL
Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
SLC34A3
Idiopathic basal ganglia calcification 1
SLC20A2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1
FGF23-induced hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets
FGF23
Autosomal recessive hypophosphatemic rickets type 1
DMP1
Autosomal recessive hypophosphatemic rickets type 2
ENPP1
X-linked dominant hypophosphatemic rickets
PHEX
Fanconi-type hypophosphatemic rickets
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC34A1
X-linked recessive hypophosphatemic rickets
CLCN5
OCRL
Hypophosphatemic rickets with hyperparathyroidism
KL
Osteoglophonic dysplasia
FGFR1
Raine syndrome
FAM20C
X-linked dominant hypophosphatemic rickets
PHEX
Disturbances of glucose metabolism
Diabetes mellitus
Autoimmune diabetes
FOXP3
HLA-DQA1
Diabetic nephropathy
ACE
AGT
AKR1B1
Diabetic retinopathy
PON1
VEGFA
Gestational diabetes mellitus
Autoimmune diabetes
FOXP3
HLA-DQA1
MODY diabetes
MODY1 diabetes
HNF4A
MODY10 diabetes
INS
MODY11 diabetes
BLK
MODY12 diabetes
ABCC8
MODY13 diabetes
KCNJ11
MODY14 diabetes
APPL1
MODY2 diabetes
GCK
MODY3 diabetes
HNF1A
MODY4 diabetes
PDX1
MODY5 diabetes
HNF1B
MODY6 diabetes
NEUROD1
MODY7 diabetes
KLF11
MODY8 diabetes
CEL
MODY9 diabetes
PAX4
Mannose-binding protein deficiency
MBL2
Mitchell-Riley syndrome
RFX6
Partial lipodystrophy
Familial partial lipodystrophy type 2
LMNA
Familial partial lipodystrophy type 3
PPARG
Familial partial lipodystrophy type 4
PLIN1
Familial partial lipodystrophy type 5
CIDEC
TRPM6
Hereditary susceptibility to diabetes
IRS1
MAPK8IP1
PDX1
SH2B1
TBC1D1
Insulin resistance
CIDEC
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR
ENPP1
IRS1
IRS2
PPARG
MODY diabetes
MODY1 diabetes
HNF4A
MODY10 diabetes
INS
MODY11 diabetes
BLK
MODY12 diabetes
ABCC8
MODY13 diabetes
KCNJ11
MODY14 diabetes
APPL1
MODY2 diabetes
GCK
MODY3 diabetes
HNF1A
MODY4 diabetes
PDX1
MODY5 diabetes
HNF1B
MODY6 diabetes
NEUROD1
MODY7 diabetes
KLF11
MODY8 diabetes
CEL
MODY9 diabetes
PAX4
Mitochondrial diabetes
TRNE
TRNK
TRNL1
TRNS2
Neonatal diabetes mellitus
Leprechaunism
INSR
Mitchell-Riley syndrome
RFX6
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Pancreatogenic diabetes
Mitchell-Riley syndrome
RFX6
Pancreatic agenesis 1
PDX1
Pancreatic agenesis 2
PTF1A
Pancreatic agenesis and congenital heart defects
GATA6
Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1
Wolcott-Rallison syndrome
EIF2AK3
Rabson-Mendenhall syndrome
INSR
Renal cysts and diabetes (RCAD)
HNF1B
Transient neonatal diabetes mellitus 1
HYMAI
PLAGL1
ZFP57
Transient neonatal diabetes mellitus 2
ABCC8
Transient neonatal diabetes mellitus 3
KCNJ11
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Noninsulin-dependent diabetes mellitus 1
CAPN10
Pancreatogenic diabetes
Mitchell-Riley syndrome
RFX6
Pancreatic agenesis 1
PDX1
Pancreatic agenesis 2
PTF1A
Pancreatic agenesis and congenital heart defects
GATA6
Severe obesity and type 2 diabetes
UCP3
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1
Fasting plasma glucose trait loci
G6PC2
GCKR
Hyperinsulinemic hypoglycemia
HNF1A
HNF4A
Hyperinsulinemic hypoglycemia 1
ABCC8
Hyperinsulinemic hypoglycemia 2
KCNJ11
Hyperinsulinemic hypoglycemia 3
GCK
Hyperinsulinemic hypoglycemia 4
HADH
Hyperinsulinemic hypoglycemia 5
INSR
Hyperinsulinemic hypoglycemia 6
GLUD1
Hyperinsulinemic hypoglycemia 7
SLC16A1
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Hypoinsulinemic hypoglycemia
AKT2
Food intolerance
Adult type lactose intolerance
LCT
MCM6
Eosinophil peroxidase deficiency
EPX
Fructose intolerance
ALDOB
Fructose malabsorption
SLC2A5
Fructose-1,6-bisphosphatase deficiency
FBP1
Fructosuria
KHK
Glucose-Galactose Malabsorption
SLC5A1
Histamine Intolerance
AOC1
HNMT
MAOA
MAOB
Lactase deficiency
LCT
Lysinuric protein intolerance
SLC7A7
Mast cell activation syndrome
KIT
Sitosterolemia
ABCG5
ABCG8
Trehalase deficiency
TREH
Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
UGT1A
Crigler-Najjar syndrome 2
UGT1A
Dubin-Johnson syndrome
ABCC2
Familial transient neonatal hyperbilirubinemia
UGT1A
Gilbert syndrome
UGT1A
Rotor type hyperbilirubinemia
SLCO1B1
SLCO1B3
Glycolipidosis
Inclusion body myopathy 2
GNE
Infantile sialic acid storage disorder
SLC17A5
Nonaka myopathy
GNE
Salla disease
SLC17A5
Sialuria
GNE
HADH deficiency
HADH
Hereditary lipid disorders
Attenuated cholesterol lowering by statins
HMGCR
KIF6
Disorders of mRNA editing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
Disturbances of body fat distribution
Inherited leanness
AGRP
Lipodystrophy
Generalized lipodystrophy
Congenital generalized lipodystrophy type 2
BSCL2
Generalized lipodystrophy type 1
AGPAT2
Partial lipodystrophy
Familial partial lipodystrophy type 2
LMNA
Familial partial lipodystrophy type 3
PPARG
Familial partial lipodystrophy type 4
PLIN1
Familial partial lipodystrophy type 5
CIDEC
Obesity
Autosomal dominant obesity
MC4R
Body mass index quantitative trait
BMI effecting trait 14
FTO
Early-onset obesity
NR0B2
POMC
Late-onset obesity
AGRP
Severe obesity
PPARG
SIM1
Severe obesity and type 2 diabetes
UCP3
Susceptibility to obesity
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1
Dyslipidemia
Apolipoprotein deficiency
APOA5
APOB
APOC1
APOC2
APOC3
APOE
APOL1
APOM
Apolipoprotein A1 deficiency
APOA1
Apolipoprotein A2 deficiency
APOA2
Apolipoprotein F deficiency
APOF
Apolipoprotein H deficiency
APOH
CLU
Betalipoprotein deficiency
Abetalipoproteinemia
MTTP
Hypobetalipoproteinemia
ANGPTL3
APOB
Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1
Hyperalphalipoproteinemia 1
CETP
Hyperalphalipoproteinemia 2
APOC3
Hyperlipemia
Chylomicronemia
APOA5
APOC2
APOE
GPIHBP1
LPL
Familial combined Hyperlipemia
Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1
Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Combined familial hyperlipidemia with dysfunctional LDL clearance
ATF6
LDLR
PCSK9
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1
Hypercholesterolemia
Autosomal dominant hypercholesterolemia 1
LDLR
Autosomal dominant hypercholesterolemia 2
APOB
Autosomal dominant hypercholesterolemia 3
PCSK9
Autosomal recessive hypercholesterolemia
LDLRAP1
Low density lipoprotein cholesterol level quantitative trait locus
HMGCR
Lp(a) hyperlipoproteinemia
LPA
Hypertriglyceridemia
APOA5
APOE
Combined lipase deficiency
LMF1
GPIHBP1
LIPC
LIPE
LPL
Plasma triglyceride level quantitative trait locus
ANGPTL4
Transient infantile hypertriglyceridemia
GPD1
Lysosomal acid lipase deficiency
LIPA
Hypoalphalipoproteinemia
ABCA1
APOA1
Hypobetalipoproteinemia
ANGPTL3
APOB
Hepatic CPT-deficiency type 1A
CPT1A
Neutral lipid storage disease
Neutral lipid storage disease with ichtiosis
ABHD5
Neutral lipid storage disease with myopathy
PNPLA2
Sea-blue histiocyte disease
APOE
Statin intolerance
SLCO1B1
Tangier Disease
ABCA1
Hypercatabolic hypoproteinemia
B2M
Hypomagnesemia
EGFR
Gitelman syndrome
SLC12A3
Hereditary myokymia type 1
KCNA1
Hypomagnesemia with hypercalciuria and nephrocalcinosis
CLDN16
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
CLDN19
Hypomagnesemia with normocalciuria
EGF
Intestinal hypomagnesemia with secondary hypocalcemia
TRPM6
Isolated dominant hypomagnesemia
FXYD2
Renal cysts and diabetes (RCAD)
HNF1B
Renal hypomagnesemia 6
CNNM2
TRPM7
Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
NLRP7
Recurrent hydatidiform mole 2
KHDC3L
ZFP57
Lysosomal storage disease
Cystinosis
CTNS
Fabry disease
GLA
Infantile sialic acid storage disorder
SLC17A5
Lysosomal acid lipase deficiency
LIPA
Salla disease
SLC17A5
Wolman disease
LIPA
MELAS syndrome
EHHADH
ND1
ND5
ND6
TRNC
TRNH
TRNK
TRNQ
TRNS1
TRNS2
Methionine adenosyltransferase deficiency
MAT1A
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
Urea cycle disorders
Argininosuccinic aciduria
ASL
Citrullinemia
Citrullinemia type 1
ASS1
Citrullinemia type 2
SLC25A13
Citrullinemia type 2
SLC25A13
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15
Ornithine aminotransferase deficiency
OAT
Ornithine carbamoyltransferase deficiency
OTC
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.

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2.

Nield LS et al. (2006) Rickets: not a disease of the past.

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3.

Olsen KM et al. () Tumoral calcinosis: pearls, polemics, and alternative possibilities.

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4.

Brady RO et al. (2006) Emerging strategies for the treatment of hereditary metabolic storage disorders.

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5.

Hendriks YM et al. () Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.

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6.

Pietrangelo A et al. (2006) Hereditary hemochromatosis.

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7.

Gillmore JD et al. (2006) Drug Insight: emerging therapies for amyloidosis.

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Update: Sept. 26, 2018