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Last 12 months

June 27, 2008

Condition: ataxia with oculomotor apraxia
Gene: APTX: aprataxin

June 20, 2008

Condition: Andermann syndrome
Condition: Char syndrome
Condition: X-linked spondyloepiphyseal dysplasia tarda
Gene: SLC12A6: solute carrier family 12 (potassium/chloride transporters), member 6
Gene: TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Gene: TRAPPC2: trafficking protein particle complex 2

June 15, 2008

Condition: familial hemiplegic migraine
Condition: pyridoxal 5'-phosphate-dependent epilepsy
Condition: pyridoxine-dependent epilepsy
Gene: ALDH7A1: aldehyde dehydrogenase 7 family, member A1
Gene: ATP1A2: ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
Gene: CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Gene: PNPO: pyridoxamine 5'-phosphate oxidase
Gene: SCN1A: sodium channel, voltage-gated, type I, alpha subunit
Gene family: SCN

June 6, 2008

Condition: succinic semialdehyde dehydrogenase deficiency
Gene: ALDH5A1: aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)
Gene family: ALDH

May 30, 2008

Condition: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (also known as IPEX syndrome)
Gene: FOXP3: forkhead box P3

May 25, 2008

Condition: CHARGE syndrome
Condition: chorea-acanthocytosis
Condition: McLeod neuroacanthocytosis syndrome
Condition: X-linked lissencephaly
Gene: ARX: aristaless related homeobox
Gene: CHD7: chromodomain helicase DNA binding protein 7
Gene: DCX: doublecortex; lissencephaly, X-linked (doublecortin)
Gene: VPS13A: vacuolar protein sorting 13 homolog A (S. cerevisiae)
Gene: XK: X-linked Kx blood group (McLeod syndrome)
Gene family: blood group

May 16, 2008

Condition: aromatic l-amino acid decarboxylase deficiency
Condition: Lenz microphthalmia syndrome
Condition: McKusick-Kaufman syndrome
Condition: oculofaciocardiodental syndrome
Gene: BCOR: BCL6 co-repressor
Gene: DDC: dopa decarboxylase (aromatic L-amino acid decarboxylase)
Gene: MKKS: McKusick-Kaufman syndrome

May 9, 2008

Condition: early-onset primary dystonia
Condition: Lowe syndrome
Condition: Milroy disease
Gene: FLT4: fms-related tyrosine kinase 4
Gene: OCRL: oculocerebrorenal syndrome of Lowe
Gene: TOR1A: torsin family 1, member A (torsin A)

May 2, 2008

Condition: aceruloplasminemia
Condition: nail-patella syndrome
Gene: CP: ceruloplasmin (ferroxidase)
Gene: LMX1B: LIM homeobox transcription factor 1, beta

April 25, 2008

Condition: 5-alpha reductase deficiency
Condition: fumarase deficiency
Condition: hereditary leiomyomatosis and renal cell cancer (also known as HLRCC)
Gene: FH: fumarate hydratase
Gene: SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

April 14, 2008

Condition: ataxia with vitamin E deficiency
Condition: autosomal recessive spastic ataxia of Charlevoix-Saguenay (also known as ARSACS)
Condition: Beckwith-Wiedemann syndrome
Condition: Camurati-Engelmann disease
Condition: hand-foot-genital syndrome
Condition: popliteal pterygium syndrome
Condition: Russell-Silver syndrome
Condition: van der Woude syndrome
Gene: CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
Gene: H19: H19, imprinted maternally expressed transcript
Gene: HOXA13: homeobox A13
Gene: IGF2: insulin-like growth factor 2 (somatomedin A)
Gene: IRF6: interferon regulatory factor 6
Gene: KCNQ1OT1: KCNQ1 overlapping transcript 1
Gene: SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
Gene: TGFB1: transforming growth factor, beta 1
Gene: TTPA: tocopherol (alpha) transfer protein

April 4, 2008

Gene family: CYP

March 28, 2008

Condition: cerebrotendinous xanthomatosis
Condition: Darier disease
Condition: lysinuric protein intolerance
Condition: Robinow syndrome
Gene: ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Gene: CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
Gene: ROR2: receptor tyrosine kinase-like orphan receptor 2
Gene: SLC7A7: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
Gene family: ATP

March 21, 2008

Condition: L1 syndrome
Condition: Pelizaeus-Merzbacher disease
Condition: Peters plus syndrome
Condition: spastic paraplegia type 2
Gene: B3GALTL: beta 1,3-galactosyltransferase-like
Gene: L1CAM: L1 cell adhesion molecule
Gene: PLP1: proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated)
Gene family: CD

March 14, 2008

Condition: cardiofaciocutaneous syndrome
Condition: enlarged parietal foramina
Gene: ALX4: aristaless-like homeobox 4
Gene: BRAF: v-raf murine sarcoma viral oncogene homolog B1
Gene: MAP2K1: mitogen-activated protein kinase kinase 1
Gene: MAP2K2: mitogen-activated protein kinase kinase 2
Gene: MSX2: msh homeobox 2
Gene family: COLPG

March 5, 2008

Condition: pseudoachondroplasia
Condition: von Willebrand disease
Gene: COL9A1: collagen, type IX, alpha 1
Gene: COL9A2: collagen, type IX, alpha 2
Gene: COL9A3: collagen, type IX, alpha 3
Gene: COMP: cartilage oligomeric matrix protein
Gene: MATN3: matrilin 3
Gene: VWF: von Willebrand factor

February 29, 2008

Condition: Chediak-Higashi syndrome
Condition: Job syndrome
Condition: sialic acid storage disease
Condition: Simpson-Golabi-Behmel syndrome
Condition: tetra-amelia syndrome
Gene: GPC3: glypican 3
Gene: LYST: lysosomal trafficking regulator
Gene: SLC17A5: solute carrier family 17 (anion/sugar transporter), member 5
Gene: STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
Gene: WNT3: wingless-type MMTV integration site family, member 3
Gene family: WNT
Gene family: GPC

February 22, 2008

Condition: congenital contractural arachnodactyly
Gene: FBN2: fibrillin 2 (congenital contractural arachnodactyly)

February 17, 2008

Condition: essential tremor
Condition: GLUT1 deficiency syndrome
Condition: lymphedema-distichiasis syndrome
Condition: Saethre-Chotzen syndrome
Gene: DRD3: dopamine receptor D3
Gene: FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
Gene: HS1BP3: HCLS1 binding protein 3
Gene: SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
Gene: TWIST1: twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
Gene family: FOX

February 10, 2008

Condition: adenosine deaminase deficiency
Gene: ADA: adenosine deaminase

February 2, 2008

Condition: Cohen syndrome
Condition: spastic paraplegia type 3A
Condition: spastic paraplegia type 4
Condition: spastic paraplegia type 7
Condition: Timothy syndrome
Condition: Troyer syndrome
Gene: CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
Gene: SPAST: spastin
Gene: SPG20: spastic paraplegia 20 (Troyer syndrome)
Gene: SPG3A: spastic paraplegia 3A (autosomal dominant)
Gene: SPG7: spastic paraplegia 7 (pure and complicated autosomal recessive)
Gene: VPS13B: vacuolar protein sorting 13 homolog B (yeast)
Gene family: CACN

January 28, 2008

Condition: branchiootorenal syndrome
Gene: EYA1: eyes absent homolog 1 (Drosophila)
Gene: SIX1: SIX homeobox 1
Gene: SIX5: SIX homeobox 5
Gene family: DNAJ
Gene family: RPS
Gene family: TRIM
Gene family: ZNF
Gene family: ABC
Gene family: PTP
Gene family: SLC

January 20, 2008

Condition: dystrophic epidermolysis bullosa
Gene: COL7A1: collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)

January 11, 2008

Condition: cleidocranial dysplasia
Gene: RUNX2: runt-related transcription factor 2

January 7, 2008

Condition: Baller-Gerold syndrome
Condition: beta-mannosidosis
Condition: hereditary multiple exostoses
Condition: Rothmund-Thomson Syndrome
Gene: EXT1: exostoses (multiple) 1
Gene: EXT2: exostoses (multiple) 2
Gene: MANBA: mannosidase, beta A, lysosomal
Gene: RECQL4: RecQ protein-like 4

December 28, 2007

Condition: Mowat-Wilson syndrome
Gene: RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
Gene: SOS1: son of sevenless homolog 1 (Drosophila)
Gene: ZEB2: zinc finger E-box binding homeobox 2

December 14, 2007

Condition: alpha-mannosidosis
Gene: MAN2B1: mannosidase, alpha, class 2B, member 1

December 7, 2007

Condition: Shwachman-Diamond syndrome
Gene: SBDS: Shwachman-Bodian-Diamond syndrome

November 30, 2007

Condition: frontometaphyseal dysplasia
Condition: Melnick-Needles syndrome
Condition: otopalatodigital syndrome type 1
Condition: otopalatodigital syndrome type 2
Condition: periventricular heterotopia
Gene: ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
Gene: DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
Gene: FLNA: filamin A, alpha (actin binding protein 280)

November 26, 2007

Condition: Amish lethal microcephaly
Gene: SLC25A19: solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

November 16, 2007

Condition: Opitz G/BBB syndrome
Gene: MID1: midline 1 (Opitz/BBB syndrome)

November 13, 2007

Condition: 2-hydroxyglutaric aciduria
Gene: D2HGDH: D-2-hydroxyglutarate dehydrogenase
Gene: L2HGDH: L-2-hydroxyglutarate dehydrogenase

October 31, 2007

Condition: cholesteryl ester storage disease
Condition: Wolman disease
Gene: LIPA: lipase A, lysosomal acid, cholesterol esterase (Wolman disease)

October 12, 2007

Condition: Farber lipogranulomatosis
Condition: Townes-Brocks Syndrome
Gene: ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
Gene: SALL1: sal-like 1 (Drosophila)

October 9, 2007

Condition: central core disease
Condition: leukoencephalopathy with vanishing white matter
Condition: malignant hyperthermia
Condition: multiminicore disease
Gene: EIF2B1: eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
Gene: EIF2B2: eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
Gene: EIF2B3: eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
Gene: EIF2B4: eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
Gene: EIF2B5: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
Gene: RYR1: ryanodine receptor 1 (skeletal)
Gene: SEPN1: selenoprotein N, 1

September 21, 2007

Condition: hypophosphatasia
Condition: metachromatic leukodystrophy
Gene: ALPL: alkaline phosphatase, liver/bone/kidney
Gene: ARSA: arylsulfatase A
Gene: PSAP: prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)

September 7, 2007

Condition: autoimmune polyglandular syndrome, type 1
Gene: AIRE: autoimmune regulator

August 31, 2007

Gene: ATG16L1: ATG16 autophagy related 16-like 1 (S. cerevisiae)
Gene: IL23R: interleukin 23 receptor
Gene: IRGM: immunity-related GTPase family, M

August 17, 2007

Gene: BARD1: BRCA1 associated RING domain 1
Gene: BRIP1: BRCA1 interacting protein C-terminal helicase 1
Gene: CDH1: cadherin 1, type 1, E-cadherin (epithelial)
Gene: NBN: nibrin
Gene: PALB2: partner and localizer of BRCA2
Gene: RAD50: RAD50 homolog (S. cerevisiae)

August 10, 2007

Gene: ANG: angiogenin, ribonuclease, RNase A family, 5
Gene: DCTN1: dynactin 1 (p150, glued homolog, Drosophila)
Gene: PRPH: peripherin

July 27, 2007

Condition: familial encephalopathy with neuroserpin inclusion bodies (also known as FENIB)
Gene: SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1

July 13, 2007

Condition: glucose-galactose malabsorption
Condition: guanidinoacetate methyltransferase deficiency
Condition: ocular albinism
Gene: GAMT: guanidinoacetate N-methyltransferase
Gene: GPR143: G protein-coupled receptor 143
Gene: SLC5A1: solute carrier family 5 (sodium/glucose cotransporter), member 1


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