Test 1 Biochem Disease and Disorders

Just the disorders and genes associated with it for test 1 Foundations

Leber’s Hereditary Optic Neuropathy (LHON)

Mitochondrial Inheritance

MT-ND1, 4, 6 gene

Sudden Blindness and CNS disturbance

Mitochondrial Encephalopathy with lactic acidosis and stroke-like episodes (MELAS)

Mitochondrial Inheritance

MT-TL1 gene

stroke like episodes

Myoclonic Epilepsy with Ragged Red Fibers (MERRF)

Mitochondrial Inheritance

MT-TK gene

myoclonus (twitches) and ataxia (impaired muscle coordination)

Aminoglycoside-induced Nonsyndromic Deafness

Mitochondrial Inheritance

12S rRNA gene

Fragile X Syndrome

X-linked dominant inheritance

FMR1 gene

Trinucleotide repeat expansion CGG in FMR1 gene

Normal 6-50 / affected 200+ repeats

Most common form of inherited mental retardation

Clinical Presentation: long head, Prominent ears

Can be seen in karyotype, X chromosome looks dangling

Rett Syndrome

X-linked dominant inheritance

X Chromosome

MECP2 gene

G6PD DEFICIENCY

X-linked recessive inheritance

G6PD gene

Hunter Syndrome (MPS II)

X-linked recessive inheritance

IDS gene

Lesch-Nyhan Syndrome

X-linked recessive inheritance

XPRT gene

OTC deficiency

X-linked recessive inheritance

OTC gene

Menkes Syndrome

X-linked recessive inheritance

ATP7A gene

Duchenne Muscular Dystrophy

X-linked recessive inheritance

DMD Gene

Hemophilia A

X-linked recessive inheritance

F8 gene

Most common severe bleeding disorder

Clinical presentation: bruising often, intercranial bleeding with trauma, hemorrhages in joints, prolonged bleeding

Treatment available

Spermatogenic failure

Y-linked disorder

USP9Y Gene

Azoospermia

Y-linked disorder

DDX3Y and DAZ gene

Swyer Syndrome

Y-linked disorder

SRY gene

Complete gonadal dysgenesis

Y-linked Deafness

Y-linked disorder

DFNY1 Gene

Exclusive to a 7 generation Chinese family

Y-linked disorders

Y chromosome

Usually every disorder comes with infertility

These disorders usually not passed down

Caused mainly by spontaneous mutations

Huntington Disease

Autosomal Dominant

HTT gene

Familial Hypercholesterolemia

Autosomal Dominant

LDLR gene

Lynch Syndrome (Hereditary Nonpolyposis Colon Cancer)

Autosomal Dominant

MSH 2 + 6, MLH1, PMS2 genes

Acute Intermittent Porphyria

Autosomal Dominant

HMBS gene

Postaxial Polydactyly

Autosomal Dominant

GLI3 gene

Achondroplasia

Autosomal Dominant

FGFR3 gene

Marfan Syndrome

Autosomal Dominant

FBN1 gene

Osteogenesis Imperfecta Type 1

Autosomal Dominant

COL1A1 gene

Retinoblastoma

Autosomal Dominant

RB1 gene

Neurofibromatosis Type 1

Autosomal Dominant

NF1 gene

Cystic Fibrosis

Autosomal Recessive

CFTR gene

Phenylketonuria

Autosomal Recessive

PAH gene

Albinism

Autosomal Recessive

TYR gene

Sickle Cell Anemia

Autosomal Recessive

HBB gene

Thalassemia

Autosomal Recessive

HBA,HBB genes

Alkaptonuria

Autosomal Recessive

HGD gene

Niemann-Pick Disease A

Autosomal Recessive

SMPD1 gene

Tay-Sachs Disease

Autosomal Recessive

HEXA gene

Xeroderma Pigmentosum

Autosomal Recessive

XPA,XPC genes

Ataxia Telangiectasia

Autosomal Recessive

ATM gene

Leigh Syndrome

Mitochondrial Inheritance

SURF1 gene

early childhood neurodegeneration

psychomotor regression

respiratory failure