Sandbox:Ascites DD

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Genes

TMEM67 TTC21B WDR19 ZNF423 CEP164 ANKS6 INPP5E TMEM216 AHI1 NPHP1 CEP290 RPGRIP1L ARL13B CC2D2A OFD1 TTC21B KIF7 TCTN1 CEP41 TMEM138 C5orf42 TCTN3 ZNF423 TMEM231 TCTN2 BBS1 BBS2 ARL6 BBS4 BBS5 MKKS BBS7 TTC8 BBS9 BBS10 TRIM32 BBS12 MKS1 CEP290 MKS1 CC2D2A NPHP3 B9D1 B9D2 IFT122 EVC EVC2 IFT80 OFD1 PKD1 PKD2 Timp1 CALHM1 GST01 PAX1P1 PLD3 TOMM40 UNC5C SLC24A4 PTK2B ZCWPW1 CELF1 FERMT2 CASS4 INPP5D NME8 UBQLN1 GSD 1 GSD type 1a GSD type 1b FAM111A CHD7 G744S AIRE

=Chromosome 1

p-arm The following are some of the genes located on p-arm (short arm) of human chromosome 1:

AADACL3: Arylacetamide deacetylase-like 3 AADACL4: Arylacetamide deacetylase-like 4 ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ACTL8: Actin-like 8 ADPRHL2: Poly(ADP-ribose) glycohydrolase ARH3 AMPD2: encoding enzyme AMP deaminase 2 ATXN7L2: Ataxin 7-like 2 AZIN2: encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC) BCAS2: Breast carcinoma amplified sequence 2 C1orf103: encoding protein Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1) C1orf109: chromosome 1 open reading frame 109 C1orf123: chromosome 1 open reading frame 123 CASZ1: Castor zinc finger 1 CMPK: UMP-CMP kinase COL11A1: collagen, type XI, alpha 1 CPT2: carnitine palmitoyltransferase II CRYZ: Crystallin zeta CSDE1: Cold shock domain containing E1 DBT: dihydrolipoamide branched chain transacylase E2 DCLRE1B: DNA cross-link repair 1B DEPDC1 encoding protein DEP domain containing 1 DIRAS3: DIRAS family, GTP-binding RAS-like 3 DPH5: Diphthine synthase ESPN: espin (autosomal recessive deafness 36) EVI5: ecotropic viral integration site 5 EXTL1: exostosin like glycosyltransferase 1 EXTL2: exostosin like glycosyltransferase 2 FAM46B: family with sequence similarity 46, member B FAM46C: family with sequence similarity 46, member C FAM76A: family with sequence similarity 76, member A FBXO2: F-box protein 2 FPGT: Fucose-1-phosphate guanylyltransferase GALE: UDP-galactose-4-epimerase GBP2: guanylate binding protein 2 GJB3: gap junction protein, beta 3, 31kDa (connexin 31) GNL2: G protein nucleolar 2 HES2: Hes family bHLH transcription factor 2 HES3: Hes family bHLH transcription factor 3 HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) HAO2 encoding protein Hydroxyacid oxidase 2 HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2 HP1BP3: Heterochromatin protein 1, binding protein 3 IFI6: Interferon alpha-inducible protein 6 INTS11: Integrator complex subunit 11 KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4 KIF1B: kinesin family member 1B L1TD1: LINE-1 type transposase domain containing 1 LRRC39: Leucine-rich repeat-containing protein 39 LRRC40: Leucine-rich repeat-containing protein 40 LRRC41: Leucine-rich repeat-containing protein 41 LRRC8D: Leucine-rich repeat-containing protein 8D MAN1A2: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB MEAF6: MYST/ESA1 associated factor 6 MECR: Trans-2-enoyl-CoA reductase, mitochondrial MFAP2: Microfibrillar-associated protein 2 MFN2: mitofusin 2 MFSD2: Major facilitator superfamily domain containing 2A MIR6079: microRNA 6079 MMEL1: Membrane metallo-endopeptidase-like 1 MTFR1L: mitochondrial fission regulator 1 like MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH) MUL1: Mitochondrial E3 ubiquitin protein ligase 1 MUTYH: mutY homolog (E. coli) NBPF3: Neuroblastoma breakpoint family member 3 NGF: Nerve Growth Factor NOL9: Nucleolar protein 9 OLFML3: Olfactomedin-like 3 OMA1: Metalloendopeptidase OMA1, mitochondrial OVGP1: Oviductal glycoprotein 1 PARK7: Parkinson disease (autosomal recessive, early onset) 7 PINK1: PTEN induced putative kinase 1 PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 PRMT6: Protein arginine methyltransferase 6 PSRC1: Proline/serine-rich coiled-coil protein 1 RAD54L: RAD54-like RCC2: Regulator of chromosome condensation 2 RHBDL2: Rhomboid like 2 RLF: rearranged L-myc fusion RNF220: RING finger protein 220 SDC3: Syndecan-3 SGIP1: SH3 domain GRB2-like protein 3-interaction protein 1 SH3BGRL3: SH3 domain-binding glutamic acid-rich-like protein 3 SPSB1: SPRY domain-containing SOCS box protein 1 SYCP1: Synaptonemal complex protein 1 SZT2: Seizure threshold 2 homolog TACSTD2: tumour-associated calcium signal transducer 2 TCEB3: Transcription elongation factor B polypeptide 3 TMCO4: encoding protein transmembrane and coiled-coil domains 4 TMEM48: encoding protein nucleoporin NDC1 TMEM50A: Transmembrane protein 50A TMEM59: Transmembrane protein 59 TMEM69: Transmembrane protein 69 TMEM222: Transmembrane protein 222 TOE1: Target of EGR1 protein 1 TRAPPC3: Trafficking protein particle complex subunit 3 TRIT1: tRNA isopentenyltransferase, mitochondrial TSHB: thyroid stimulating hormone, beta TTC39A: Tetratricopeptide repeat 39A UBR4: E3 ubiquitin-protein ligase component n-recognin 4 UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda) USP48: Ubiquitin carboxyl-terminal hydrolase 48 VPS13D: Vacuolar protein sorting-associated protein 13D WARS2: Tryptophanyl-tRNA synthetase, mitochondrial ZCCHC17: zinc finger CCHC-type containing 17 ZMYM1 encoding protein Zinc finger MYM-type containing 1 ZNF436: Zinc finger protein 436 ZYG11B encoding protein Zyg-11 family member B, cell cycle regulator ZZZ3: ZZ-type zinc finger-containing protein 3 q-arm The following are some of the genes located on q-arm (long arm) of human chromosome 1:

AHCTF1: encoding protein ELYS ANGPTL1: Angiopoietin-related protein 1 ARID4B: encoding protein AT-rich interactive domain-containing protein 4B ASPM: a brain size determinant C1orf21: chromosome 1 open reading frame 21 C1orf35 encoding protein Chromosome 1 open reading frame 35 C1orf49: chromosome 1 open reading frame 49 C1orf74: chromosome 1 open reading frame 74 C1orf106: chromosome 1 open reading frame 106 CD5L: CD5 molecule like CENPL: Centromere protein L CHTOP: Chromatin target of prmt1 CNIH4: cornichon homolog 4 CNST: Consortin CREG1: Cellular repressor of E1A stimulated genes 1 CRP: C-reactive protein CSRP1: Cysteine and glycine rich protein 1 DDX59: DEAD-box helicase 59 DPT: Dermatopontin DNAH14 encoding protein Dynein, axonemal, heavy chain 14 EDEM3: ER degradation enhancing alpha-mannosidase like protein 3 F5: coagulation factor V (proaccelerin, labile factor) FAM20B: FAM20B, glycosaminoglycan xylosylkinase FAM63A: Family with sequence similarity 63, member A FAM78B: family with sequence similarity 78, member B FAM129A: family with sequence similarity 129, member A FBXO28: F-box protein 28 FCMR: Fc fragment of IgM receptor FMO3: flavin containing monooxygenase 3 GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease) GBAP1: glucosylceramidase beta pseudogene 1 GLC1A: gene for glaucoma GON4L: gon-4 like GPR37L1 G protein-coupled receptor 37 like 1 HEATR1: HEAT repeat-containing protein 1 HFE2: hemochromatosis type 2 (juvenile) HIST2H2AB: Histone 2A type 2-B HIST2H2BF: Histone H2B type 2-F HIST2H3PS2: Histone cluster 2, H3, pseudogene 2 HIST3H2A: Histone H2A type 3 HIST3H2BB: Histone H2B type 3-B HPC1: gene for prostate cancer INTS3: Integrator complex subunit 3 IRF6: gene for connective tissue formation LEFTY1: Left-right determination factor 1 LMNA: lamin A/C LYPLAL1: Lysophospholipase-like 1 MIR194-1: microRNA 194-1 MIR5008: microRNA 5008 MPC2: Mitochondrial pyruvate carrier 2 MOSC1: MOCO sulphurase C-terminal domain containing 1 MOSC2: MOSC domain-containing protein 2, mitochondrial MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B) MSTO1: misato 1 MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase NAV1: Neuron navigator 1 NBPF16: Neuroblastoma breakpoint family, member 16 NOC2L: Nucleolar complex protein 2 homolog NUCKS1: Nuclear ubiquitous casein and cyclin-dependent kinases substrate NVL: Nuclear valosin-containing protein-like OLFML2B: Olfactomedin-like 2B OPTC: Opticin OTUD7B: OTU domain-containing protein 7B PGDB5: PiggyBac transposable element derived 5 PI4KB: Phosphatidylinositol 4-kinase beta PIP5K1A: Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha PPOX: protoporphyrinogen oxidase PRR9 encoding protein Proline rich 9 PSEN2: presenilin 2 (Alzheimer disease 4) RABIF: RAB interacting factor RN5S1@: RNA, 5S ribosomal 1q42 cluster SCAMP3: Secretory carrier-associated membrane protein 3 SDHB: succinate dehydrogenase complex subunit B SLC50A1: Solute carrier family 50 member 1 SMCP: Sperm mitochondrial-associated cysteine-rich protein SMG7: nonsense mediated mRNA decay factor SPRR1A: Cornifin-A SPRR1B: Cornifin-B SPRR2A: Small proline rich protein 2A SPRTN: Spartan TARBP1: TAR (HIV-1) RNA-binding protein 1 TBCE: Tubulin-specific chaperone E THBS3: Thrombospondin 3 TMCO1: Transmembrane and coiled-coil domain-containing protein 1 TMEM9: Transmembrane protein 9 TMEM63A: Transmembrane protein 63A TNNT2: cardiac troponin T2 TOR1AIP1: Torsin-1A-interacting protein 1 UAP1: UDP-N-acetylhexosamine pyrophosphorylase USH2A: Usher syndrome 2A (autosomal recessive, mild) VPS45: Vacuolar protein sorting-associated protein 45 VPS72: Vacuolar protein sorting-associated protein 72 YY1AP1: YY1-associated protein 1 ZBED6: Zinc finger, BED-type containing 6 ZC3H11A: Zing finger CCCH domain-containing protein 11A ZNF687: zing finger protein 687 ZNF648 encoding protein Zinc finger protein 648 ZNF695: Zinc


Preferred Table

Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Fever Icterus Abdominal pain Peripheral edema Chest pain Jugular vein distension Hepatomegaly Skin rash Edema Spider angiomata Serum to ascites albumin gradient (SAAG) Ascitic fluid:
  • Exudative Vs Transudative
  • Colour
CBC
Hepatic causes Cirrhosis - + - - - + - - - +  ≥1.1
  • Transudate
  • Opalescent
Budd chiari syndrome - + - - - - + - - +
Acute liver failure + + +/- + - - + +/- + -
Alcoholic hepatitis - - - - - - + - - -
GI causes Whipple disease + - + - - - - - - - <1.1
Peritonitis + - + - - - - - - -  ≥1.1 or <1.1
  • Exudate
  • Turbid or cloudy
Pancreatitis + (Severe pancreatitis) - - - - - - + (In rare cases) - - <1.1
Amylase level >100 units/L in the ascitic fluid
Cardiac causes CHF - - - + + + + (In Rt heart failure) - + - ≥1.1
Pericarditis + - - - + + + - - -  ≥1.1
Renal cause Nephrotic syndrome - - - + - - - - + - <1.1
Other causes Sarcoidosis + - - - + - + + - -
SLE + - - - - - - + - -
TB + - - - + - - + (In Cutaneous TB) - -  ≥1.1 or <1.1
Hypothyroidism - + (Myxedematous edema) - - - + (Myxedematous edema) - Low TSH level
Cancer - +/- +/- - +/-  ≥1.1 Tumor markers for determination of the cancer type