Last 12 months - Genetics Home Reference

Last 12 months - Genetics Home Reference

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September 2, 2013

• Condition: anhidrotic ectodermal dysplasia with immune deficiency


• Gene: IDH2: isocitrate dehydrogenase 2 (NADP+), mitochondrial


• Gene: NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha


• Gene: SLC25A1: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1


• Gene family: ANKRD


• Gene family: ZC2HC

August 26, 2013

• Condition: lissencephaly with cerebellar hypoplasia


• Condition: mandibuloacral dysplasia


• Condition: nonsyndromic aplasia cutis congenita


• Condition: Sjögren syndrome


• Gene: RELN: reelin


• Gene: ZMPSTE24: zinc metallopeptidase STE24


• Gene family: intermediate filaments type V, lamins

August 20, 2013

• Condition: complete LCAT deficiency


• Condition: familial isolated pituitary adenoma


• Condition: fish-eye disease


• Condition: isolated Pierre Robin sequence


• Condition: late-infantile neuronal ceroid lipofuscinosis


• Condition: RAPADILINO syndrome


• Gene: AIP: aryl hydrocarbon receptor interacting protein


• Gene: CLN5: ceroid-lipofuscinosis, neuronal 5


• Gene: CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant


• Gene: CLN8: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)


• Gene: LCAT: lecithin-cholesterol acyltransferase


• Gene: MFSD8: major facilitator superfamily domain containing 8


• Gene: TPP1: tripeptidyl peptidase I

August 12, 2013

• Condition: sick sinus syndrome


• Condition: Snyder-Robinson syndrome


• Gene: HCN4: hyperpolarization activated cyclic nucleotide-gated potassium channel 4


• Gene: MYH6: myosin, heavy chain 6, cardiac muscle, alpha


• Gene: SMS: spermine synthase


• Gene family: CNG

August 5, 2013

• Condition: Mabry syndrome


• Condition: osteoglophonic dysplasia


• Condition: Walker-Warburg syndrome


• Gene: CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)


• Gene: FKRP: fukutin related protein


• Gene: ISPD: isoprenoid synthase domain containing


• Gene: LARGE: like-glycosyltransferase


• Gene: PGAP2: post-GPI attachment to proteins 2


• Gene: PIGO: phosphatidylinositol glycan anchor biosynthesis, class O


• Gene: PIGV: phosphatidylinositol glycan anchor biosynthesis, class V


• Gene: POMT1: protein-O-mannosyltransferase 1


• Gene: POMT2: protein-O-mannosyltransferase 2


• Gene family: dolichyl D-mannosyl phosphate dependent mannosyltransferases


• Gene family: PIG


• Gene family: glycosyltransferase family 8 domain containing

July 29, 2013

• Condition: granulomatosis with polyangiitis


• Condition: infantile neuronal ceroid lipofuscinosis


• Gene: HLA-DPB1: major histocompatibility complex, class II, DP beta 1


• Gene family: immunoglobulin superfamily, C1-set domain containing

July 22, 2013

• Condition: Graves disease


• Condition: Hashimoto thyroiditis


• Condition: retroperitoneal fibrosis


• Gene family: WDR

July 15, 2013

• Condition: congenital neuronal ceroid lipofuscinosis


• Condition: isolated lissencephaly sequence


• Gene: CTSD: cathepsin D


• Gene: TUBA1A: tubulin, alpha 1a


• Gene family: TUB

July 8, 2013

• Condition: 8p11 myeloproliferative syndrome


• Gene: ZMYM2: zinc finger, MYM-type 2


• Gene family: immunoglobulin superfamily, I-set domain containing


• Gene family: ZMYM

July 1, 2013

• Gene family: CLCN

June 24, 2013

• Condition: lacrimo-auriculo-dento-digital syndrome


• Gene: FGF10: fibroblast growth factor 10

June 17, 2013

• Condition: medullary cystic kidney disease type 1


• Condition: Pol III-related leukodystrophy


• Gene: MUC1: mucin 1, cell surface associated


• Gene: POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa


• Gene: POLR3B: polymerase (RNA) III (DNA directed) polypeptide B


• Gene family: MUC


• Gene family: POLR

June 10, 2013

• Condition: antiphospholipid syndrome

June 3, 2013

• What does it mean to have a genetic predisposition to a disease?

May 29, 2013

• Condition: benign chronic pemphigus


• Condition: critical congenital heart disease


• Condition: Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (often shortened to NFJS/DPR)


• Condition: Partington syndrome


• Condition: renal tubular dysgenesis


• Condition: Weaver syndrome


• Gene: ACE: angiotensin I converting enzyme


• Gene: AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)


• Gene: AGTR1: angiotensin II receptor, type 1


• Gene: ATP2C1: ATPase, Ca++ transporting, type 2C, member 1


• Gene: EZH2: enhancer of zeste homolog 2 (Drosophila)


• Gene family: endogenous ligands

May 20, 2013

• Condition: Coffin-Siris syndrome


• Condition: DICER1 syndrome


• Condition: factor V deficiency


• Condition: Mainzer-Saldino syndrome


• Condition: Pearson marrow-pancreas syndrome


• Condition: sitosterolemia


• Gene: ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5


• Gene: ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8


• Gene: ARID1A: AT rich interactive domain 1A (SWI-like)


• Gene: ARID1B: AT rich interactive domain 1B (SWI1-like)


• Gene: DICER1: dicer 1, ribonuclease type III


• Gene: IFT140: intraflagellar transport 140 homolog (Chlamydomonas)


• Gene: SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4


• Gene: SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1


• Gene: SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

May 13, 2013

• Condition: Carpenter syndrome


• Gene: EPCAM: epithelial cell adhesion molecule


• Gene: MEGF8: multiple EGF-like-domains 8


• Gene: RAB23: RAB23, member RAS oncogene family

May 6, 2013

• Condition: Baraitser-Winter syndrome


• Gene: ACTB: actin, beta

April 29, 2013

• Condition: progressive pseudorheumatoid dysplasia


• Gene: WISP3: WNT1 inducible signaling pathway protein 3

April 16, 2013

• Condition: autosomal recessive hypotrichosis


• Condition: Caffey disease


• Condition: desmoid tumor


• Condition: Horner syndrome


• Condition: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (often shortened to IMAGe syndrome)


• Condition: multiple sclerosis


• Condition: Ohdo syndrome, Maat-Kievit-Brunner type


• Gene: HLA-DRB1: major histocompatibility complex, class II, DR beta 1


• Gene: IL7R: interleukin 7 receptor


• Gene: LIPH: lipase, member H


• Gene: LPAR6: lysophosphatidic acid receptor 6


• Gene family: fibronectin type III domain containing

April 9, 2013

• Condition: Poland syndrome


• Condition: type 1 diabetes

March 25, 2013

• What is the prognosis of a genetic condition?


• Condition: Denys-Drash syndrome


• Condition: Frasier syndrome


• Gene: BDNF: brain-derived neurotrophic factor


• Gene: KANSL1: KAT8 regulatory NSL complex subunit 1

March 18, 2013

• Condition: familial pityriasis rubra pilaris


• Gene: CARD14: caspase recruitment domain family, member 14

March 4, 2013

• Condition: familial hypertrophic cardiomyopathy


• Condition: glycogen storage disease type IV


• Condition: Liddle syndrome


• Condition: mycosis fungoides


• Condition: myosin storage myopathy


• Condition: Rotor syndrome


• Condition: Sézary syndrome


• Gene: MYBPC3: myosin binding protein C, cardiac


• Gene: SLCO1B1: solute carrier organic anion transporter family, member 1B1


• Gene: SLCO1B3: solute carrier organic anion transporter family, member 1B3


• Gene: TNNT2: troponin T type 2 (cardiac)


• Gene family: myosin superfamily


• Gene family: MYBP

February 25, 2013

• Condition: Shprintzen-Goldberg syndrome


• Gene: SKI: v-ski avian sarcoma viral oncogene homolog


• Gene family: SKOR

February 18, 2013

• Condition: X-linked thrombocytopenia

February 11, 2013

• Condition: PDGFRB-associated chronic eosinophilic leukemia


• Condition: piebaldism


• Gene: ETV6: ets variant 6


• Gene: PDGFRB: platelet-derived growth factor receptor, beta polypeptide


• Gene: SLC20A2: solute carrier family 20 (phosphate transporter), member 2

February 4, 2013

• Condition: arterial tortuosity syndrome


• Condition: auriculo-condylar syndrome


• Condition: genitopatellar syndrome


• Condition: MPV17-related hepatocerebral mitochondrial DNA depletion syndrome


• Condition: Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant (often shortened to Ohdo syndrome, SBBYS variant)


• Gene: GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3


• Gene: KAT6B: K(lysine) acetyltransferase 6B


• Gene: MPV17: MpV17 mitochondrial inner membrane protein


• Gene: PLCB4: phospholipase C, beta 4


• Gene: SLC2A10: solute carrier family 2 (facilitated glucose transporter), member 10


• Gene family: chromatin-modifying enzymes

January 28, 2013

• Condition: combined malonic and methylmalonic aciduria (often shortened to CMAMMA)


• Gene: ACSF3: acyl-CoA synthetase family member 3


• Gene family: ACS

January 17, 2013

• Condition: Myhre syndrome

January 7, 2013

• Condition: Cantú syndrome


• Condition: juvenile primary osteoporosis


• Condition: osteoporosis-pseudoglioma syndrome


• Condition: spinal muscular atrophy with respiratory distress type 1 (often shortened to SMARD1)


• Gene: ABCC9: ATP-binding cassette, sub-family C (CFTR/MRP), member 9


• Gene: DYNC1H1: dynein, cytoplasmic 1, heavy chain 1


• Gene family: DYN

December 17, 2012

• Condition: Floating-Harbor syndrome


• Condition: hereditary diffuse leukoencephalopathy with spheroids (often shortened to HDLS)


• Gene: CSF1R: colony stimulating factor 1 receptor


• Gene: SRCAP: Snf2-related CREBBP activator protein

December 11, 2012

• What is the epigenome?


• How are genetic conditions diagnosed?


• How are genetic conditions treated or managed?


• What is genetic ancestry testing?


• What advances are being made in DNA sequencing?


• Condition: Lujan syndrome


• Condition: task-specific focal dystonia


• Condition: Weyers acrofacial dysostosis

December 2, 2012

• Condition: Bart-Pumphrey syndrome


• Condition: congenital insensitivity to pain


• Condition: Dowling-Degos disease


• Condition: hereditary sensory and autonomic neuropathy type IE


• Condition: hystrix-like ichthyosis with deafness


• Condition: keratitis-ichthyosis-deafness syndrome


• Condition: palmoplantar keratoderma with deafness


• Condition: paroxysmal extreme pain disorder


• Condition: small fiber neuropathy


• Condition: Vohwinkel syndrome


• Gene: DNMT1: DNA (cytosine-5-)-methyltransferase 1


• Gene: LOR: loricrin


• Gene: SCN10A: sodium channel, voltage-gated, type X, alpha subunit

November 19, 2012

• Condition: congenital deafness with labyrinthine aplasia, microtia, and microdontia (often shortened to LAMM syndrome)


• Condition: familial HDL deficiency


• Gene: APOA1: apolipoprotein A-I


• Gene: FGF3: fibroblast growth factor 3

November 5, 2012

• Condition: Bietti crystalline dystrophy


• Condition: Potocki-Shaffer syndrome


• Condition: primary spontaneous pneumothorax


• Gene: CYP4V2: cytochrome P450, family 4, subfamily V, polypeptide 2

October 30, 2012

• Condition: hypermanganesemia with dystonia, polycythemia, and cirrhosis (often shortened to HMDPC)


• Gene: SLC30A10: solute carrier family 30, member 10

October 23, 2012

• Condition: adenine phosphoribosyltransferase deficiency


• Condition: CHST3-related skeletal dysplasia


• Condition: cytochrome c oxidase deficiency


• Condition: fatty acid hydroxylase-associated neurodegeneration


• Condition: hereditary pancreatitis


• Condition: maternally inherited diabetes and deafness (often shortened to MIDD)


• Condition: 1q21.1 microdeletion


• Gene: APRT: adenine phosphoribosyltransferase


• Gene: CHST3: carbohydrate (chondroitin 6) sulfotransferase 3


• Gene: FA2H: fatty acid 2-hydroxylase


• Gene: MT-TE: mitochondrially encoded tRNA glutamic acid


• Gene: PRSS1: protease, serine, 1 (trypsin 1)


• Gene family: PRSS


• Gene family: SULTM


• Gene family: TRNA

October 15, 2012

• Condition: familial osteochondritis dissecans


• Condition: ulcerative colitis


• Gene: ACAN: aggrecan

October 8, 2012

• Gene: RBM8A: RNA binding motif protein 8A

October 2, 2012

• Condition: glycogen storage disease type IX


• Gene: KLLN: killin, p53-regulated DNA replication inhibitor


• Gene: PHKA1: phosphorylase kinase, alpha 1 (muscle)


• Gene: PHKA2: phosphorylase kinase, alpha 2 (liver)


• Gene: PHKB: phosphorylase kinase, beta


• Gene: PHKG2: phosphorylase kinase, gamma 2 (testis)