Details of Disease

General Information of Disease (ID: DISMSS7T)

• Disease Name: Abetalipoproteinemia
• Synonyms: microsomal triglyceride transfer Protein deficiency; MTP deficiency; ABL; Betalipoprotein deficiency disease; abetalipoproteinemia neuropathy; congenital betalipoprotein deficiency syndrome; acanthocytosis; Bassen Kornzweig syndrome; apolipoprotein B deficiency; Bassen-Kornzweig syndrome; microsomal triglyceride transfer protein deficiency disease; homozygous familial hypobetalipoproteinemia; abetalipoproteinemia; Bassen-Kornzweig disease; familial hypobetalipoproteinemia
• Definition: Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DISSYRHC: Hereditary peripheral neuropathy
  DISGPMUQ: Intestinal disorder
  DISZF45C: Autosomal recessive metabolic cerebellar ataxia
  DIS0TPI3: Hypobetalipoproteinemia
  DISMSS7T: Abetalipoproteinemia
• Disease Identifiers:
  MONDO ID: MONDO_0008692
  MESH ID: D000012
  UMLS CUI: C0000744
  OMIM ID: 200100
  MedGen ID: 1253
  HPO ID: HP:0008181
  Orphanet ID: 14
  SNOMED CT ID: 190787008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRLF2	TTRMZ0N	Strong	Altered Expression	[1]
MTTP	TTUS1RD	Definitive	Autosomal recessive	[2]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA1	OTX1R7O1	Limited	Genetic Variation	[3]
BCR	OTCN76C1	moderate	Biomarker	[4]
EVPL	OTZIAFEK	Strong	Biomarker	[5]
FAM107B	OT5RG4J0	Strong	Biomarker	[6]
HADHA	OTO557N2	Strong	Genetic Variation	[7]
HADHB	OT4Y1I62	Strong	Genetic Variation	[8]
JPH3	OTHTJO2I	Strong	Biomarker	[9]
PIK3C2A	OTFBU4GD	Strong	Altered Expression	[10]
SAR1B	OT0JZOMY	Strong	Genetic Variation	[11]
SMR3B	OTL5HNM8	Strong	Biomarker	[12]
SORBS2	OTJSX44Y	Strong	Biomarker	[13]
MT1B	OTUA4FFH	Definitive	Genetic Variation	[14]
MTTP	OTNUVSDT	Definitive	Autosomal recessive	[2]

References

• [1] Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia.Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):252-7. doi: 10.1073/pnas.0911726107. Epub 2009 Dec 15.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [3] MYB-GATA1 fusion promotes basophilic leukaemia: involvement of interleukin-33 and nerve growth factor receptors.J Pathol. 2017 Jul;242(3):347-357. doi: 10.1002/path.4908. Epub 2017 May 29.
• [4] A novel tricolor, dual-fusion fluorescence in situ hybridization method to detect BCR/ABL fusion in cells with t(9;22)(q34;q11.2) associated with deletion of DNA on the derivative chromosome 9 in chronic myelocytic leukemia.Cancer Genet Cytogenet. 2004 Jan 1;148(1):1-6. doi: 10.1016/s0165-4608(03)00202-4.
• [5] p210(Bcr-Abl) desensitizes Cdc42 GTPase signaling for SDF-1alpha-directed migration in chronic myeloid leukemia cells.Oncogene. 2009 Nov 19;28(46):4105-15. doi: 10.1038/onc.2009.260. Epub 2009 Aug 31.
• [6] The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis.Sci Transl Med. 2017 May 24;9(391):eaaf3962. doi: 10.1126/scitranslmed.aaf3962.
• [7] HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing. Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22.
• [8] Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability.Exp Cell Res. 2019 Jun 15;379(2):150-158. doi: 10.1016/j.yexcr.2019.03.040. Epub 2019 Apr 3.
• [9] Familial hypobetalipoproteinemia--differences in lipoprotein structure and composition.Ann Nutr Metab. 1993;37(5):253-61. doi: 10.1159/000177775.
• [10] Amyotrophic choreo-acanthocytosis: a new observation in southern Europe.Acta Neurol Scand. 1986 May;73(5):481-6. doi: 10.1111/j.1600-0404.1986.tb04589.x.
• [11] Update on the molecular biology of dyslipidemias.Clin Chim Acta. 2016 Feb 15;454:143-85. doi: 10.1016/j.cca.2015.10.033. Epub 2015 Nov 4.
• [12] The pro-metastasis tyrosine phosphatase, PRL-3 (PTP4A3), is a novel mediator of oncogenic function of BCR-ABL in human chronic myeloid leukemia.Mol Cancer. 2012 Sep 21;11:72. doi: 10.1186/1476-4598-11-72.
• [13] ArgBP2-dependent signaling regulates pancreatic cell migration, adhesion, and tumorigenicity.Cancer Res. 2008 Jun 15;68(12):4588-96. doi: 10.1158/0008-5472.CAN-08-0958.
• [14] Hypobetalipoproteinemia and abetalipoproteinemia.Curr Opin Lipidol. 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072.