Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Systematic disease overview:

Systematic

Hereditary diseases
Hereditary bone disease
Albright hereditary osteodystrophy
GNAS
Bone dysplasia
Achondroplasia
FGFR3
Antley-Bixler syndrome 1
POR
Antley-Bixler syndrome 2
FGFR2
Apert syndrome
FGFR2
Brachydactyly type E2
PTHLH
Chondrodysplasia of Blomstrand type
PTH1R
Crouzon syndrome
FGFR3
Eiken syndrome
PTH1R
Failure of tooth eruption
PTH1R
McCune-Albright syndrom
GNAS
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Muenke syndrome
FGFR3
Osteopathia striata with cranial sclerosis
AMER1
Schimke Immunoosseous dysplasia
SMARCAL1
Thanatophoric dysplasia 1
FGFR3
Thanatophoric dysplasia 2
FGFR3
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Inborn skeletal malformations
Congenital contractural arachnodactyly
FBN2
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Multiple synostoses syndrome 3
FGF9
Orofacial cleft 11
BMP4
Periodontal Ehlers-Danlos syndrome
C1R
C1S
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39
Tatton-Brown-Rahman syndrome
DNMT3A
Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2
DACT1
Trigonocephaly 2
FREM1
Van Maldergem syndrome 2
FAT4
Metabolic bone disease
Hereditary Rickets
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
Vitamin D hydroxylation-deficient rickets type 1A
CYP27B1
Vitamin D hydroxylation-deficient rickets type 1B
CYP2R1
Vitamin D-dependent rickets, type 2A
VDR
Vitamin D-dependent rickets, type 2B
RXRA
Inherited human diseases of heterotopic bone formation
Fibrodysplasia ossificans progressiva
ACVR1
Hyperphosphatemic familial tumoral calcinosis
FGF23
GALNT3
KL
Progressive osseous heteroplasia
GNAS
Osteopetrosis
Autosomal dominant osteopetrosis 1
LRP5
Autosomal recessive osteopetrosis 3 with renal tubular acidosis
CA2
Osteoporosis/renal Osteodystrophy
CASR
LRP5
RXRA
VDR
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Hereditary broncho-pulmonary disease
Bronchiectasis with or without elevated sweat chloride
Bronchiectasis with or without elevated sweat chloride 1
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G
Cystinosis
CTNS
Fabry disease
GLA
Hereditary pulmonary embolism
Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1
Pulmonary alveolar microlithiasis
SLC34A2
Reduced response to beta-2-adrenoreceptor agonist
ADRB2
Susceptibility to nocturnal asthma
ADRB2
Hereditary cardiac disease
Arteriosclerosis
APOB
APOE
HABP2
LDLR
LPA
MTHFR
PON1
SLC3A1
Hereditary arrhythmia
Long QT syndrome
Long QT syndrome 01
KCNQ1
Long QT syndrome 02
KCNH2
Long QT syndrome 13
KCNJ5
Short QT syndrome
Short QT syndrome 1
KCNH2
Short QT syndrome 2
KCNQ1
Short QT syndrome 3
KCNJ2
Hereditary cardiomyopathy
Dilated cardiomyopathy 1A
LMNA
Malouf syndrome
LMNA
Hereditary diseases of the hematopoetic system and coagulopathies
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
Familial erythrocytosis 2
VHL
Hereditary bleeding disorders
Afibrinogenemia
FGA
FGB
FGG
Disturbances of vitamin K metabolism
Combined deficiency of vitamin K-dependent clotting factors type 1
GGCX
Combined deficiency of vitamin K-dependent clotting factors type 2
VKORC1
Coumarin resistance
CYP2A6
CYP2C9
CYP4F2
VKORC1
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX
Dysfibrinogenemia
FGA
FGB
FGG
Factor XII deficiency
F12
Factor XIII A subunit deficiency
F13A1
Factor XIII B subunit deficiency
F13B
Plasminogen activator inhibitor deficiency
SERPINE1
Hereditary malign blood disorders
Juvenile myelomonocytic leukemia
NF1
Susceptibility to acute myeloid leukemia
GATA2
Susceptibility to myelodysplastic syndrome
GATA2
Inheritable platelet disorders
Alloimmune thrombocytopenia
ITGA2B
ITGB3
Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
Bleeding disorder platelet-type 9
ITGA2
Glycoprotein 1a deficiency
ITGA2
MYH9 related disorders
MYH9
Mediterranean macrothrombocytopenia
ABCG5
ABCG8
Thrombasthenia of Glanzmann and Naegeli
ITGA2B
ITGB3
Wiskott–Aldrich syndrome
WAS
Ovalocytosis
SLC4A1
Paroxysmal nocturnal hemoglobinuria
PIGA
Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1
Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
AIRE
Autoimmune polyendocrinopathy syndrome 2
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Disorder of the thyroid hormon system
Graves disease
GC
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Susceptibility to thyrotoxic periodic paralysis 1
CACNA1S
Thyroid hormone resistance
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, selective pituitary
THRB
Disorders of sex development
Denys-Drash syndrome
WT1
Hypogonadotropic hypogonadism 6 with or without anosmia
FGF8
Müllerian aplasia and hyperandrogenism
WNT4
SERKAL syndrome
WNT4
Disorders of the growth control system
Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
POU1F1
Pituitary hormone deficiency type 2
PROP1
Pituitary hormone deficiency type 3
LHX3
Pituitary hormone deficiency type 4
LHX4
Pituitary hormone deficiency type 5
HESX1
Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
GHSR
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR
Isolated growth hormone deficiency type 2
GH1
Isolated growth hormone deficiency type 3
BTK
Kowarski syndrome
GH1
Growth hormone hypersensitivity
GHR
Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
STAT5B
Insulin-like growth factor 1 deficiency
IGF1
Insulin-like growth factor 1 resistance
IGF1R
Insulin-like growth factor 1 transport protein deficiency
IGFALS
Laron syndrome
GHR
SH2B1
Short stature, SHOX-linked
Langer mesomelic dysplasia
SHOX
Leri-Weill dyschondrosteosis
SHOX
X-linked familial short stature
SHOX
Y-linked familial short stature
SHOX
Syndromic growth retardation
Growth retardation with developmental delay and facial dysmorphism
FTO
Short stature, developmental delay, and congenital heart defects
TKT
Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
PTHLH
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH
Parathyroid carcinoma
CDC73
Pseudohyperparathyreoidism
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
GNAS
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP17A1
Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
CYP11B2
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Disordered steroidogenesis due to POR deficiency
POR
Glucocorticoid resistance
NR3C1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC
Hereditary diabetes insipidus
Central diabetes insipidus
AVP
Nephrogenic diabetes insipidus
AQP2
AVPR2
Wolfram syndrome
Diabetes insipidus and mellitus with optic atrophy and deafness
Wolfram syndrome 1
WFS1
Wolfram syndrome 2
CISD2
Hereditary dsorders of the pituitary gland
Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
POU1F1
Pituitary hormone deficiency type 2
PROP1
Pituitary hormone deficiency type 3
LHX3
Pituitary hormone deficiency type 4
LHX4
Pituitary hormone deficiency type 5
HESX1
Familial and sporadic pituitary adenomas
CDH23
Kidney disease appearing as endocrinological disorders
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Pheochromocytoma
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL
Hereditary immunological disorders
Chronic inflammatory disorders
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial mediterranean fever
MEFV
NOD2
SAA1
TNFRSF1A
Inflammatory bowel disease
Inflammatory bowel disease 13
ABCB1
SEL1L
Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
MVK
Porokeratosis 3
MVK
Susceptibility to malignant hyperthermia 5
CACNA1S
TNF receptor-associated periodic syndrome
TNFRSF1A
Hereditary complement disorders
CR1 deficiency
CR1
Complement C3 deficiency
C3
Complement component C4 deficiency
Complement component C4A deficiency
C4A
Complement component C4B deficiency
C4B
Partial complement component C4 deficiency
SERPING1
Complement factor D deficiency
CFD
Complement factor I deficiency
CFI
Early pathway complement deficiencies
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1r/C1s deficiency
C1R
Complement component C1s deficiency
C1S
Hereditary Angioedema
Hereditary Angioedema 1
SERPING1
Hereditary Angioedema 2
SERPING1
Hereditary Angioedema 3
F12
Properdin deficiency, X-linked
CFP
Terminal pathway complement deficiencies
Thrombotic microangiopathies
Hemolytic-Uremic Syndrome
ADAMTS13
C3
C4BPA
C4BPB
CD46
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
PIGA
THBD
Poor response to Eculizumab
C5
Thrombotic Thrombocytopenic Purpura
ADAMTS13
Immunoglobulin disorders
Agammaglobulinemia, X-linked
BTK
Hyper-IgM syndrome
Hyper-IgM syndrome 1
CD40LG
Hyper-IgM syndrome 2
AICDA
Hyper-IgM syndrome 3
CD40
Hyper-IgM syndrome 4
Hyper-IgM syndrome 5
UNG
Primary immunodeficiency
Hereditary susceptibility to infections
Disorders of mRNA editing
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4
HIV resistance
CCR5
CXCR1
Measles infection susceptibility
CD46
Meningococcal infection susceptibility
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP
Resistance to trypanosoma brucei
APOL1
Immunodeficiency 21
GATA2
Immunodeficiency 31A
STAT1
Immunodeficiency 31B
STAT1
Immunodeficiency 31C
STAT1
Immunodeficiency-centromeric instability-facial anomalies syndrome
DNMT3B
Wiskott–Aldrich syndrome
WAS
Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Autosomal dominant Robinow syndrome 1
WNT5A
BNAR syndrome
FREM1
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
Denys-Drash syndrome
WT1
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
WT1
Goldberg-Shprintzen syndrome
KIF1BP
Mowat-Wilson syndrome
ZEB2
Papillorenal syndrome
PAX2
Renal cysts and diabetes (RCAD)
HNF1B
Renal dysplasia with hypopituitarism and diabetes
HNF1A
Renal hypodysplasia/aplasia
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
ACE
AGT
AGTR1
REN
Renal-hepatic-pancreatic dysplasia
NPHP3
SERKAL syndrome
WNT4
Syndromic microphthalmia 6
BMP4
Vesicoureteral reflux
Familial vesicoureteral reflux 2
ROBO2
Familial vesicoureteral reflux 3
SOX17
Familial vesicoureteral reflux 8
TNXB
WAGR syndrome
PAX6
WT1
Cystic kidney disease
Alagille syndrome 2
NOTCH2
Autosomal dominant polycystic kidney disease
GANAB
PKD1
PKD2
Autosomal recessive polycystic kidney and hepatic disease 1
PKHD1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
Hajdu-Cheney syndrome
NOTCH2
Medullary cystic disease complex
Ciliopathy
COACH syndrome
CC2D2A
RPGRIP1L
TMEM67
Joubert syndrome
Joubert syndrome 11
TTC21B
Joubert syndrome 19
ZNF423
Joubert syndrome 3
AHI1
Joubert syndrome 6
TMEM67
Joubert syndrome 7
RPGRIP1L
Joubert syndrome 9
CC2D2A
Leber congenital amaurosis
Leber congenital amaurosis 01
GUCY2D
Leber congenital amaurosis 02
RPE65
Leber congenital amaurosis 03
SPATA7
Leber congenital amaurosis 04
AIPL1
Leber congenital amaurosis 05
LCA5
Leber congenital amaurosis 06
RPGRIP1
Leber congenital amaurosis 07
CRX
Leber congenital amaurosis 08
CRB1
Leber congenital amaurosis 09
NMNAT1
Leber congenital amaurosis 10
CEP290
Leber congenital amaurosis 11
IMPDH1
Leber congenital amaurosis 12
RD3
Leber congenital amaurosis 13
RDH12
Leber congenital amaurosis 14
LRAT
Leber congenital amaurosis 15
TULP1
Leber congenital amaurosis 16
KCNJ13
Leber congenital amaurosis 17
GDF6
Leber congenital amaurosis 18
PRPH2
Left-right axis malformations
LEFTY2
Meckel syndrome
Meckel syndrome 3
TMEM67
Meckel syndrome 5
RPGRIP1L
Meckel syndrome 5
CC2D2A
Nephronophthisis
Nephronophthisis 1
NPHP1
Nephronophthisis 10
SDCCAG8
Nephronophthisis 11
TMEM67
Nephronophthisis 12
TTC21B
Nephronophthisis 13
WDR19
Nephronophthisis 14
ZNF423
Nephronophthisis 15
CEP164
Nephronophthisis 16
ANKS6
Nephronophthisis 17
IFT172
Nephronophthisis 18
CEP83
Nephronophthisis 19
DCDC2
Nephronophthisis 2
INVS
Nephronophthisis 3
NPHP3
Nephronophthisis 4
NPHP4
Nephronophthisis 5
IQCB1
Nephronophthisis 6
CEP290
Nephronophthisis 7
GLIS2
Nephronophthisis 8
RPGRIP1L
Nephronophthisis 9
NEK8
Primary ciliary dyskinesia 3 with or without situs inversus
DNAH5
Senior-Loken syndrome
Senior-Loken syndrome 1
NPHP1
Senior-Loken syndrome 3
NPHP3
Senior-Loken syndrome 4
NPHP4
Senior-Loken syndrome 5
IQCB1
Senior-Loken syndrome 6
CEP290
Senior-Loken syndrome 7
SDCCAG8
Senior-Loken syndrome 8
WDR19
Senior-Loken syndrome 9
TRAF3IP1
Short-rib thoracic dysplasia with or without polydactyly 10
IFT172
Short-rib thoracic dysplasia with or without polydactyly 9
IFT140
Medullary cystic kidney disease
Medullary cystic kidney disease 1
MUC1
Medullary cystic kidney disease 2
UMOD
Nephronophthisis
Nephronophthisis 1
NPHP1
Nephronophthisis 10
SDCCAG8
Nephronophthisis 11
TMEM67
Nephronophthisis 12
TTC21B
Nephronophthisis 13
WDR19
Nephronophthisis 14
ZNF423
Nephronophthisis 15
CEP164
Nephronophthisis 16
ANKS6
Nephronophthisis 17
IFT172
Nephronophthisis 18
CEP83
Nephronophthisis 19
DCDC2
Nephronophthisis 2
INVS
Nephronophthisis 3
NPHP3
Nephronophthisis 4
NPHP4
Nephronophthisis 5
IQCB1
Nephronophthisis 6
CEP290
Nephronophthisis 7
GLIS2
Nephronophthisis 8
RPGRIP1L
Nephronophthisis 9
NEK8
Senior-Loken syndrome
Senior-Loken syndrome 1
NPHP1
Senior-Loken syndrome 3
NPHP3
Senior-Loken syndrome 4
NPHP4
Senior-Loken syndrome 5
IQCB1
Senior-Loken syndrome 6
CEP290
Senior-Loken syndrome 7
SDCCAG8
Senior-Loken syndrome 8
WDR19
Senior-Loken syndrome 9
TRAF3IP1
Polycystic kidney disease with hyperinsulinemic hypoglycemia
PMM2
Renal cysts and diabetes (RCAD)
HNF1B
Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Donnai-Barrow syndrome
LRP2
Imerslund-Grasbeck syndrome
AMN
CUBN
Metabolic disturbances of proximal tubular function
Cystinosis
CTNS
Dent disease
CLCN5
OCRL
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Fructose intolerance
ALDOB
Galactosemia
GALT
Glycogen storage disease 1
Glycogen storage disease 1A
G6PC
Glycogen storage disease 1B
SLC37A4
Glycogen storage disease 1C
SLC37A4
Hepatorenal tyrosinemia
FAH
Lowe disease
OCRL
MELAS syndrome
EHHADH