Details of Disease

Disease Name

Pyropoikilocytosis, hereditary

HPP; hereditary pyropoikilocytosis; pyropoikilocytosis hereditary; pyropoikilocytosis, hereditary; pyropoikilocytosis; Hypophosphatasia

Definition

An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.

Disease Hierarchy

DISYKSRF: Genetic disease

DISZGN3B: Pyropoikilocytosis, hereditary

Disease Identifiers

MONDO ID

MONDO_0009948

UMLS CUI

C0520739

OMIM ID

266140

MedGen ID

141708

HPO ID

HP:0004839

Orphanet ID

98867

SNOMED CT ID

9434008

General Information of Disease (ID: DISZGN3B)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	TT84DRB	moderate	Genetic Variation	[1]
ASRGL1	TT4WT91	Strong	Biomarker	[2]
CACNA1S	TT94HRF	Definitive	Genetic Variation	[1]
COL1A2	TTUABC1	Definitive	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAT10	DEZV4AP	Strong	Biomarker	[2]
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This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPTB	OT1Q9ABM	moderate	Genetic Variation	[4]
ALPP	OTZU4G9W	Strong	Biomarker	[2]
ATRNL1	OTY5JUX2	Strong	Biomarker	[2]
CCL27	OTUZYC61	Strong	Biomarker	[2]
EPB41	OTGCFPV8	Strong	Biomarker	[5]
OTUD4	OT7U62SW	Strong	Biomarker	[6]
PDLIM3	OTVXQC81	Strong	Biomarker	[2]
PLP1	OT8CM9CX	Strong	Biomarker	[7]
SCGB3A1	OTIR98RB	Strong	Biomarker	[6]
SLPI	OTUNFUU8	Strong	Biomarker	[2]
SPTA1	OT1YMP65	Strong	Autosomal recessive	[8]
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⏷ Show the Full List of 11 DOT(s)

References

1	Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.Mol Med Rep. 2015 Oct;12(4):6267-74. doi: 10.3892/mmr.2015.4201. Epub 2015 Aug 7.
2	Tissue non-specific alkaline phosphatase activity and mineralization capacity of bi-allelic mutations from severe perinatal and asymptomatic hypophosphatasia phenotypes: Results from an in vitro mutagenesis model.Bone. 2019 Oct;127:9-16. doi: 10.1016/j.bone.2019.05.031. Epub 2019 May 27.
3	Genetic analysis of adults heterozygous for ALPL mutations.J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13.
4	Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016 Jul;90(1):69-78. doi: 10.1111/cge.12749. Epub 2016 Mar 15.
5	Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.Blood Cells Mol Dis. 2016 Oct;61:4-9. doi: 10.1016/j.bcmd.2016.07.003. Epub 2016 Jul 17.
6	Sessile serrated adenomas and classical adenomas: an epigenetic perspective on premalignant neoplastic lesions of the gastrointestinal tract.Int J Cancer. 2011 Oct 15;129(8):1889-98. doi: 10.1002/ijc.25847. Epub 2011 Mar 11.
7	HYPOPHOSPHATASIA: CLINICAL ASSESSMENT AND MANAGEMENT IN THE ADULT PATIENT-A NARRATIVE REVIEW.Endocr Pract. 2018 Dec;24(12):1086-1092. doi: 10.4158/EP-2018-0194. Epub 2018 Oct 5.
8	A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. J Clin Invest. 1992 Mar;89(3):892-8. doi: 10.1172/JCI115669.