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Last 12 months

November 20, 2009

Condition: 22q11.2 duplication
Condition: ZAP70-related severe combined immunodeficiency
Gene: ZAP70: zeta-chain (TCR) associated protein kinase 70kDa

November 16, 2009

Condition: Miller-Dieker syndrome
Gene: PAFAH1B1: platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
Gene: YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide

November 6, 2009

Condition: 16p11.2 deletion syndrome

October 30, 2009

Condition: Jacobsen syndrome
Condition: protein C deficiency
Condition: protein S deficiency
Gene: PROC: protein C (inactivator of coagulation factors Va and VIIIa)
Gene: PROS1: protein S (alpha)

October 23, 2009

Condition: microphthalmia with linear skin defects syndrome
Gene: HCCS: holocytochrome c synthase (cytochrome c heme-lyase)

October 9, 2009

Condition: Diamond-Blackfan anemia
Condition: VLDLR-associated cerebellar hypoplasia
Gene: RPL5: ribosomal protein L5
Gene: RPL11: ribosomal protein L11
Gene: RPL35A: ribosomal protein L35a
Gene: RPS7: ribosomal protein S7
Gene: RPS17: ribosomal protein S17
Gene: RPS19: ribosomal protein S19
Gene: RPS24: ribosomal protein S24
Gene: VLDLR: very low density lipoprotein receptor

October 2, 2009

Condition: 17β-hydroxysteroid dehydrogenase type 10 deficiency (also known as HSD10 deficiency)
Condition: 22q13.3 deletion syndrome
Condition: Feingold syndrome
Gene: HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
Gene: MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
Gene: SHANK3: SH3 and multiple ankyrin repeat domains 3

September 25, 2009

Condition: epidermolysis bullosa with pyloric atresia
Condition: junctional epidermolysis bullosa
Gene: COL17A1: collagen, type XVII, alpha 1
Gene: ITGA6: integrin, alpha 6
Gene: ITGB4: integrin, beta 4
Gene: LAMA3: laminin, alpha 3
Gene: LAMB3: laminin, beta 3
Gene: LAMC2: laminin, gamma 2

September 18, 2009

Condition: hereditary neuralgic amyotrophy
Gene: SEPT9: septin 9

September 14, 2009

Condition: inherited thyroxine-binding globulin deficiency
Gene: SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7

September 4, 2009

Condition: gyrate atrophy of the choroid and retina (also known as gyrate atrophy)
Condition: X-linked infantile nystagmus
Gene: FRMD7: FERM domain containing 7
Gene: OAT: ornithine aminotransferase (gyrate atrophy)

August 28, 2009

Condition: glutamate formiminotransferase deficiency
Condition: mucolipidosis II alpha/beta
Condition: mucolipidosis III alpha/beta
Condition: mucolipidosis III gamma
Gene: FTCD: formiminotransferase cyclodeaminase
Gene: GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Gene: GNPTG: N-acetylglucosamine-1-phosphate transferase, gamma subunit

August 21, 2009

Condition: congenital stromal corneal dystrophy
Condition: hyperlysinemia
Gene: AASS: aminoadipate-semialdehyde synthase
Gene: DCN: decorin
Gene family: SLRR

August 14, 2009

Condition: alpha thalassemia X-linked mental retardation syndrome
Condition: histidinemia
Condition: multiple cutaneous and mucosal venous malformations (also known as VMCM)
Condition: succinate-coenzyme A ligase deficiency
Gene: ATRX: alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
Gene: HAL: histidine ammonia-lyase
Gene: SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
Gene: SUCLG1: succinate-CoA ligase, alpha subunit
Gene: TEK: TEK tyrosine kinase, endothelial

August 7, 2009

Condition: alpha thalassemia
Condition: hereditary antithrombin deficiency
Condition: Majeed syndrome
Gene: HBA1: hemoglobin, alpha 1
Gene: HBA2: hemoglobin, alpha 2
Gene: LPIN2: lipin 2
Gene: SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1

July 31, 2009

Condition: hypomyelination and congenital cataract
Gene: FAM126A: family with sequence similarity 126, member A

July 24, 2009

Condition: Lafora progressive myoclonus epilepsy
Gene: EPM2A: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Gene: NHLRC1: NHL repeat containing 1

July 20, 2009

Condition: myoclonus-dystonia
Condition: rapid-onset dystonia parkinsonism
Gene: ATP1A3: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Gene: SGCE: sarcoglycan, epsilon

July 10, 2009

Condition: congenital dyserythropoietic anemia (also known as CDA)
Condition: cutis laxa
Gene: ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
Gene: CDAN1: congenital dyserythropoietic anemia, type I
Gene: EFEMP2: EGF-containing fibulin-like extracellular matrix protein 2
Gene: FBLN5: fibulin 5
Gene: SEC23B: Sec23 homolog B (S. cerevisiae)

June 26, 2009

Condition: optic atrophy type 1
Condition: SOST-related sclerosing bone dysplasia
Gene: OPA1: optic atrophy 1 (autosomal dominant)
Gene: SOST: sclerosteosis

June 22, 2009

Condition: juvenile Batten disease
Gene: CLN3: ceroid-lipofuscinosis, neuronal 3

June 12, 2009

Condition: polymicrogyria
Gene: GPR56: G protein-coupled receptor 56

June 5, 2009

Condition: aniridia
Condition: Pallister-Killian mosaic syndrome
Condition: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome (also known as WAGR syndrome)
Gene: PAX6: paired box 6
Gene: WT1: Wilms tumor 1

May 29, 2009

Condition: X-linked congenital stationary night blindness
Gene: CACNA1F: calcium channel, voltage-dependent, L type, alpha 1F subunit
Gene: NYX: nyctalopin

May 22, 2009

Condition: Donnai-Barrow syndrome
Condition: juvenile polyposis syndrome
Condition: mucolipidosis type IV
Gene: BMPR1A: bone morphogenetic protein receptor, type IA
Gene: LRP2: low density lipoprotein-related protein 2
Gene: MCOLN1: mucolipin 1
Gene family: SMAD

May 15, 2009

Condition: campomelic dysplasia
Condition: hereditary folate malabsorption
Gene: SLC46A1: solute carrier family 46 (folate transporter), member 1
Gene: SOX9: SRY (sex determining region Y)-box 9

May 11, 2009

Condition: focal dermal hypoplasia
Condition: ring chromosome 14 syndrome
Condition: ring chromosome 20 syndrome
Gene: PORCN: porcupine homolog (Drosophila)

May 4, 2009

Condition: autosomal dominant nocturnal frontal lobe epilepsy (also known as ADNFLE)
Condition: 2q37 deletion syndrome
Condition: spastic paraplegia type 11
Condition: tyrosine hydroxylase deficiency (also known as TH deficiency)
Condition: X-linked sideroblastic anemia and ataxia
Gene: ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
Gene: CHRNA2: cholinergic receptor, nicotinic, alpha 2 (neuronal)
Gene: CHRNA4: cholinergic receptor, nicotinic, alpha 4
Gene: CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
Gene: SPG11: spastic paraplegia 11 (autosomal recessive)
Gene: TH: tyrosine hydroxylase

April 24, 2009

Condition: recombinant 8 syndrome

April 3, 2009

Condition: hereditary angioedema
Condition: isolated Duane retraction syndrome
Gene: CHN1: chimerin (chimaerin) 1
Gene: F12: coagulation factor XII (Hageman factor)
Gene: SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Gene family: SERPIN

March 27, 2009

Condition: SOX2 anophthalmia syndrome
Condition: spastic paraplegia type 8
Gene: KIAA0196: KIAA0196
Gene: SOX2: SRY (sex determining region Y)-box 2
Gene family: SOX

March 17, 2009

Condition: cyclic vomiting syndrome
Condition: Dubin-Johnson syndrome
Condition: thrombocytopenia-absent radius syndrome (also known as TAR syndrome)
Gene: ABCC2: ATP-binding cassette, sub-family C (CFTR/MRP), member 2

March 6, 2009

Condition: congenital fibrosis of the extraocular muscles
Condition: horizontal gaze palsy with progressive scoliosis (also known as HGPPS)
Gene: KIF21A: kinesin family member 21A
Gene: PHOX2A: paired-like homeobox 2a
Gene: ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
Gene family: KIF

March 2, 2009

Condition: 1p36 deletion syndrome
Condition: familial exudative vitreoretinopathy
Condition: oculodentodigital dysplasia
Gene: FZD4: frizzled homolog 4 (Drosophila)
Gene: GJA1: gap junction protein, alpha 1, 43kDa
Gene: LRP5: low density lipoprotein receptor-related protein 5
Gene family: FZD
Gene family: GJ

February 23, 2009

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Condition: facioscapulohumeral muscular dystrophy
Condition: galactosialidosis
Condition: Langer-Giedion syndrome
Gene: CTSA: cathepsin A
Gene: ERAP1: endoplasmic reticulum aminopeptidase 1
Gene: IL1A: interleukin 1, alpha
Gene: TRPS1: trichorhinophalangeal syndrome I
Gene family: CTS
Gene family: HLA
Gene family: IL

February 6, 2009

Condition: craniometaphyseal dysplasia
Condition: thiamine-responsive megaloblastic anemia syndrome
Condition: WNT4 Müllerian aplasia and ovarian dysfunction
Gene: ANKH: ankylosis, progressive homolog (mouse)
Gene: SLC19A2: solute carrier family 19 (thiamine transporter), member 2
Gene: WNT4: wingless-type MMTV integration site family, member 4

January 23, 2009

Condition: hepatic veno-occlusive disease with immunodeficiency (also known as VODI)
Condition: McCune-Albright syndrome
Condition: progressive osseous heteroplasia
Condition: Roberts syndrome
Gene: ESCO2: establishment of cohesion 1 homolog 2 (S. cerevisiae)
Gene: GNAS: GNAS complex locus
Gene: SP110: SP110 nuclear body protein

January 16, 2009

Condition: transthyretin amyloidosis
Condition: Wolf-Hirschhorn syndrome
Condition: Y chromosome infertility
Gene: LETM1: leucine zipper-EF-hand containing transmembrane protein 1
Gene: MSX1: msh homeobox 1
Gene: TTR: transthyretin
Gene: USP9Y: ubiquitin specific peptidase 9, Y-linked
Gene: WHSC1: Wolf-Hirschhorn syndrome candidate 1
Gene family: USP

December 19, 2008

Condition: infantile systemic hyalinosis
Condition: juvenile hyaline fibromatosis
Condition: mucopolysaccharidosis type I
Condition: mucopolysaccharidosis type II
Condition: Swyer syndrome
Condition: 46,XX testicular disorder of sex development
Gene: ANTXR2: anthrax toxin receptor 2
Gene: DHH: desert hedgehog homolog (Drosophila)
Gene: IDS: iduronate 2-sulfatase
Gene: IDUA: iduronidase, alpha-L-
Gene: NR5A1: nuclear receptor subfamily 5, group A, member 1
Gene: SRY: sex determining region Y

December 16, 2008

Condition: erythromelalgia
Condition: fucosidosis
Condition: Wiskott-Aldrich syndrome
Condition: X-linked dystonia-parkinsonism
Gene: FUCA1: fucosidase, alpha-L- 1, tissue
Gene: SCN9A: sodium channel, voltage-gated, type IX, alpha subunit
Gene: TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
Gene: WAS: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)

December 5, 2008

Condition: aspartylglucosaminuria
Condition: FG syndrome
Condition: inclusion body myopathy 2
Condition: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (also known as IBMPFD)
Condition: oculopharyngeal muscular dystrophy
Condition: sialuria
Gene: AGA: aspartylglucosaminidase
Gene: GNE: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Gene: MED12: mediator complex subunit 12
Gene: PABPN1: poly(A) binding protein, nuclear 1
Gene: VCP: valosin-containing protein

December 1, 2008

Condition: blepharophimosis, ptosis, and epicanthus inversus syndrome (also known as BPES)
Condition: myostatin-related muscle hypertrophy
Gene: FOXL2: forkhead box L2
Gene: MSTN: myostatin


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