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Victor McKusick, “Mendelian Inheritance in Man”, 1966. Chromosome #X.

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Here I present: Victor McKusick, “Mendelian Inheritance in Man”, 1966. Chromosome #X.  This print book  consists of twelve (12) editions from 1966 to 1998 (shown ABOVE ).

The following abbreviations may used for Chromosome #X traits, listed in alphabetical order.

AIS ALD AR BMP15 BRS3 BTK CACNA1 CBD CLCN5 DMD DKCX DYX9 ED1 FMR1 G6PD GRPK HIGM1 IDDM KAL1 L1CAM LWD MAOA ND PHEX PMD POU3F4 RPGR SMAX1 SPG2 TMEM27 VSIG4 WAS WT1.

Short stature, idiopathic familial. ISS
Hodgkin disease susceptibility, pseudoautosomal. HL
Leri-Weill dyschondrosteosis. LWD
 Ichthyosis. XLI
Langer mesomelic dysplasia. LMD
Microphthalmia, dermal aplasia, and sclerocornea. LADMCA1
Leukemia, acute myeloid, M2 type. CSF2RA
Episodic muscle weakness. EMWX
Chondrodysplasia punctata. CDPX1
Mental retardation. XLID50
Kallmann syndrome. KAL1
Ocular albinism and sensorineural deafness. OASD
Ocular albinism, Nettsleship-Falls type. OA1
Amelogenesis imperfecta. AIH3
Oral-facial-digital syndrome. OFD1
Charcot-Marie-Tooth disease, recessive. CMTX1
Nance-Horan cataract-dental syndrome. NHS
Keratosis follicularis spinulosa decalvans. KFSDX
Heterocellular hereditary persistence of fetal hemoglobin. HBFQTL3
Hypophosphatemia, hereditary. HPDR
Pyruvate dehydrogenase deficiency. PDHAD
Partington syndrome. PRTS
Glycogen storage disease. GSD9D
Retinoschisis. RS1
Coffin-Lowry syndrome. CLS
Gonadal dysgenesis, XY female type. SRXY2
Mental retardation.   MRX87
Mental retardation, non-dysmorphic.   MRX78
Spondyloepiphyseal dysplasia tarda. SEDT
Agammaglobulinemia, type 2.   XLA
Paroxysmal  nocturnal hemoglobinuria.  PNH1
Craniofrontonasal dysplasia.  CFNS
Infantile spasm syndrome.    DEE1
Opitz G syndrome, type I. GBBB
Aicardi syndrome.   AIC
Pigment disorder, reticulate. PDR
Deafness, sensorineural.   DFNX1
Melanoma.   MAGE5
Simpson-Golabi-Behmel syndrome, type 2.  SGBS2
Duchenne muscular dystrophy.   DMD
Adrenal hypoplasia, congenital.    AHC
Becker muscular dystrophy.      BMD
Dosage-sensitive sex reversal.    SRXY2
Cardiomyopathy, dilated.      CMD3B
Deafness, congenital sensorineural.     DFNX3
Chronic granulomatous disease.   CGDX
Retinitis pigmentosa.   RP23
Snyder-Robinson mental retardation. MRXSSR
Wilson-Turner syndrome.     WTS
Norrie disease.  ND
Cone dystrophy.   CORDX3
Exudative vitreoretinopathy.    EVRX
Aland blind eye disease (ocular albinism).   AIED
Coats disease.   CD
Optic atrophy.   OAK
Renpenning syndrome. RENS1
Night blindness, congenital stationary, type 1.   CSNB1A
Retinitis pigmentosa, recessive.   RPSRDF
Erythroid potentiating activity.    EPA
Mental retardation, nonspecific and syndromic.      MRX46
Arthrogryposis multiplex congenita.   AMCX1
Dyserythropoietic anemia with thrombocytopenia.    XLTDA
Night blindness, congenital stationary, type 2.    CSNB2A
Chondrodysplasia punctata, dominant.  CDPX2
Brunner syndrome.  BRNRS
Autoimmunity-Immunodeficiency syndrome.   XLAAD
Wiskott-Aldrich syndrome.     WAS
Renal cell carcinoma, papillary.   RCCX1
Thrombocytopenia.   XLTDA
Faciogenital dysplasia (Aarskog-Scott syndrome). AAS
Dent disease.  DENT1
Choreoathetosis with mental retardation.   MRXS10
Nephrolithiasis.  XRN
Sarcoma, synovial.   SSX2
Hypophosphatemia, type III.   XLHR
Prieto syndrome.  PRS
Proteinuria.   NPHS20
Spinal muscular atrophy, lethal infantile.   SMAX2
Anemia, sideroblastic/lymphochronic.   SIDBA1
Migraine, familial typical.  MGR2
Cerebellar ataxia.   SCAX1
Androgen insensitivity.   AIS
Renal cell carcinoma, papillary.  RCCX1
Spinal and bulbar muscular atrophy.   SMAX1
Diabetes mellitus, insulin-dependent.   IDDMX
Prostrate cancer.   PCSX
Sutherland-Haan syndrome.    PQBP1
Perineal hypospadias.  HYSP1
Cognitive function, social.  CGF1
Breast cancer, male, with Reifenstein syndrome.    PAIS
Mental retardation, nonspecific.   XLID21
Ectodermal dysplasia, anhidrotic.  EDAID1
Menkes disease.  MNK
Alpha-thalassemia/mental retardation.    ATRX
Occipital horn disease.   OHS
Juberg-Marsidi syndrome.    JMS
Cutis laxa, neonatal. OHS
Sutherland-Haan syndrome.    PQBP1
FG syndrome.  FGS4
Smith-Fineman-Myers syndrome.    SFM1
Immunodeficiency, moderate and severe.   IMD74
Hemolytic anemia.  HACXL
Miles-Carpenter syndrome.  MCS
Myoglobinuria Hemolysis.  PNH1
Charcot-Marie-Tooth neuropathy, dominant.  CMTX1
Wieacker-Wolff syndrome.   WRWF
Mental retardation.     XLID29
Torsion dystonia-Parkinsonism, Filipino type. DYT3
X-inactivation center.     XIST
Leukemia, myeloid/lymphoid or mixed-lineage.   FOXO4
Premature ovarian failure.   POF1
Anemia, sideroblastic, with ataxia.  ASAT
Arts syndrome.  ARTS
Allan-Herndon syndrome.  AHDS
Cleft palate and/or ankyloglossia.  CPX
Deafness.   DFNX1
Megalocornea.   MGC1
Choroideremia.  CHM
Epilepsy (Juberg-Hellman syndrome). DEE9
Agammaglobulinemia.     AGMX1
Pelizaeus-Merzbacher disease.   PMD
Fabry disease.  GLA
Spastic paraplegia.    SPG34
Mohr-Tranebjaerg syndrome. MTS
Alport syndrome.  ATS1
Jensen syndrome.   MRXSCJ
Cowchock syndrome.  COWCK
Lissencephaly.   LISX1
Hypertrichosis, congenital generalized.  HTC2
Bazex syndrome. BDCS
Ptosis, hereditary congenital. PTOSX
Mental retardation with growth hormone deficiency.   MRGH
Apoptosis inhibitor.     XIAP
Mental retardation, South African type.    MRXSCH
Panhypopituitarism.    PHPX
Lymphoproliferative syndrome.  XLP2
Thoracoabdominal syndrome.  THAS
X-inactivation, familial skewed.  SXI1
Simpson-Golabi-Behmel syndrome, type 1.  SGBS1
Pettigrew syndrome.   PGS
Split hand/foot malformation, type 2.  SHFM2
Gustavson mental retardation syndrome.  MRXSG
Hypoparathyroidism.   HYPX
Immunodeficiency, with hyper-IgM.    HIGM1
Mental retardation, Shashi type.   MRXSSH
Retinitis pigmentosa.    RPSRDF
Lesch-Nyhan syndrome.  LNS
Wood neuroimmunologic syndrome.  LWS
HPRT-related gout.  HRH
Heterotaxy, visceral.   HTX1
Lowe syndrome.   OCRL
Albinism-deafness syndrome.  ADFN
Borjeson-Forssman-Lehmann syndrome.  BFLS
Cone dystrophy, progressive.    COD2
Testicular germ cell tumor.  TGCT1
Prostate cancer susceptibility.    HPCX1
Hemophilia B.   HEMB
Fragile-X mental retardation.    FXS
Warfarin sensitivity.  F9
Epidermolysis bullosa, macular type.  EBM
Osseous dysplasia (male lethal), digital.  TOD
Diabetes insipidus, nephrogenic.  NDI1
Adrenoleukodystrophy.   ALD
Cancer/testis antigen.   CT47A11
Adrenomyeloneuropathy.  AMN
Dyskeratosis.  DKCX
Colorblindness, blue monochromatic.  CBBM
Hemophilia A.
HEMA
Cardiac valvular dysplasia.   CVDPX
Hunter syndrome.     MPS2
Emery-Dreifuss muscular dystrophy.  EDMD1
Mucopolysaccharidosis.  MPS10
Heterotopia, periventricular.    PVNH1
Intestinal pseudoobstruction, neuronal.   IPOX
Favism. G6PD
Melanoma antigens.     MAGE5
Hemolytic anemia.    HACXL
Mental retardation-skeletal dysplasia.   MRSD
Colorblindness, green cone pigment.    CBD
Myotubular myopathy.  MTM1
Incontinentia pigmenti, type II.  IP2
Otopalatodigital syndrome, type I.  OPD1
Hydrocephalus.    HYCX
Colorblindness, red cone pigment.  CBP
MASA syndrome.
SPG1
Goeninne TKCR syndrome.   TKCR
Spastic paraplegia.   SPG34
Waisman Parkinsonism-mental retardation. WSMN
Rett syndrome.    RTT
Barth syndrome.    BTHS
Mature T-cell proliferation.   MTCP1
Cardiomyopathy, dilated.  XLCM
Myopia (Bornholm eye disease).   BED
Noncompaction of left ventricular myocardium.  XLCM
Mental retardation with psychosis.   MRXS13
Von Hippel-Lindau binding protein.  VBP1
Endocardial fibroelastosis. EFE

Here I presented: Victor McKusick, “Mendelian Inheritance in Man”, 1966. Chromosome #X.  This print book  consists of twelve (12) editions from 1966 to 1998; and, selected traits of Chromosome #X were listed ABOVE.

 

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