Genes Flashcards
ATP7A
Menkes/ Charcot-Marie-Tooth
PAH
Phenylketonuria
FAH
Tyrosinemia
BCKDHA, BCKDHB, DBT
MSUD
AMT, GLDC, GCSH
Nonketotic hyperglycemia
CPS1
Carbamoyl-phosphate synthetase 1 deficiency
ASS1
Citrullinemia type 1/ Arginosuccinate synthetase deficiency
ASL
Arginosuccinate lyase deficiency
MMUT, MMAA, MMAB, MMADHC, MCEE
methylmalonic acidemia
PCCA, PCCB
Propionic acidemia
CBS
Homocystinuria
NAGS
N-acetylglutamate synthetase deficiency
IVD
Isovaleric acidemia
OTC
Ornithine transcarbamylase deficiency
ARG1
Arginase deficiency
BTD
Biotinidase deficiency
GCDH
Glutaric acidemia type 1
GALT
Classic and clinical variant galactosemia
GALK1
galactokinase deficiency (galactosemia type 2)
GALE
Epimerase deficiency galactosemia/ GALE deficiency galactosemia
ALDOB
Hereditary fructose intolerance (fructosemia)
KHK
Fructokinase deficiency
FBP1
Fructose 1,6 Bisphosphatase deficiency
G6PC1, SLC37A4
Glycogen storage disease type 1 (Von Gierke)
GAA
Glycogen storage disease type 2
PYGM
Glycogen storage disease type 5 (McArdle)
SLC2A1
GLUT1 deficiency
SLC22A5
Primary carnitine deficiency (OCTN2 deficiency)
CPT1A
Carnitine palmitoyltransferase 1A deficiency
ACADVL
VLCAD deficiency
ACADM
MCAD deficiency
ACADS
SCAD deficiency
HADHA; HADHB
LCHAD/TFP deficiency
MT-TL1, MT-NDS
MELAS
MT-TK
MERRF
MT-ND4, MT-ND6, MT-ND1
LHON
DLAT, DLD, PDHA1, PDHB, PDHX, PDP1, PDK3
Pyruvate dehydrogenase complex deficiency
MT-ATP6
Leigh syndrome/ NARP
GLA
Fabry
GBA1
Gaucher
SMPD1
Niemann-Pick (infantile neurovisceral ASMD, chronic neurovisceral, chronic visceral ASMD)
HEXA
Tay-sachs
IUDA
MPS I
IDS
MPS II
GALC
Krabbe
ARSA
Metachromatic leukodystrophy (Arylsulfatase A enzyme deficiency)
SGSH, NAGLU, NGSNAT, GNS
MPS III
GALNS
MPS IV
ABCD1
XALD
PEX6, PEX1, other PEX related genes (13 in total)
Zellweger spectrum disorder
NSDHL
CHILD syndrome/CK syndrome
DHCR7
SLO
NPC1, NPC2
Niemann Pick Type C
APOE
familial dyslipidemia/hyperlipidemia
LPL
Familial LPL deficiency
APOB
Familial hypobetalipoproteinemia OR Familial hypercholesterolemia (if PV is a missense and impairs LDL receptor binding activity)
ATP7B
Wilson Dz
HFE
Hemochromatosis
HMBS
Acute Intermittent Porphyria
UROD
Familial porphyria cutanea tarda
PMM2
PMM2 (phosphomannomutase 2) - CDG
HPRT1
Lesch-Nyhan syndrome
GCH1, PTS, QDPR, PCBD1
BH4 deficiency
FMO3
Trimethylaminuria
del of 4p16.3
Wolf Hirschhorn
del of 5p15.2, 5p15.3
Cri Du Chat
del of 1p36.13-1p36.33
1p36 del syndrome
22q11.2, TBX1, DGCR8, CRKL, SNAP29, PRODH
22q11.2 del
7q11.23, ELN, LIMK1, GTF2I, GTF2IRD1, NCF1, STX1A, MLXIPL, BAZ1B, CLIP2
Williams syndrome
17q11.2 RAI1
Smith Magenis
15q11.2-q13; SNURF-SNRPN, SNORD116
PWS
15q11.2-q13; UBE3A
AS
OCA2
Oculocutaneous albinism type 2
also found in PWS/AS Critical regions (15q11.2-q13) and is responsible for the light pigmentation in these individuals
CTG repeats in DMPK
Myotonic dystrophy type 1
CCTG repeats in CNBP
Myotonic dystrophy type 2
Shortening of D4Z4 region on chrom 4
Fascioscapulohumeral muscular dystrophy type 1
SMCHD1
Fascioscapulohumeral muscular dystrophy type 2
NOTCH3
CADISL (cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy)
del of 11p13
WAGR syndrome
del of 11q
Jacobsen syndrome
PMP22/ 1.5Mb del of 17p12
Hereditary neuropathy with liability to pressure palsies
16p11.2 del, PRRT2
16p11.2 del syndrome
17q21.31 del; PV in KANSL1
Koolen de Vries syndrome
NSD1; 5q35del
Sotos syndrome
tetrasomy 22pter-22q11
Cat eye syndrome