Warning: The NCBI web site requires JavaScript to function. more...

MedGen

National Center for Biotechnology Information

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE

MedGen UID:: 864816
•Concept ID:: C4016379
•: Finding

OMIM®:

Professional guidelines

PubMed

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265

Recent clinical studies

Etiology

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.

Shayakul C, Alper SL
Clin Exp Nephrol 2004 Mar;8(1):1-11. doi: 10.1007/s10157-003-0271-x. PMID: 15067510

Diagnosis

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265

Prognosis

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265

Clinical prediction guides

Genotype-phenotype correlation in children with hereditary spherocytosis.

Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD
Br J Haematol 2020 Nov;191(3):486-496. Epub 2020 May 20 doi: 10.1111/bjh.16750. PMID: 32436265

Supplemental Content

Table of contents

Clinical resources

ClinicalTrials.gov

Practice guidelines

PubMed
See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Consumer resources

MedlinePlus

Reviews

Related information

ClinVar
Related medical variations
OMIM
Related records in OMIM
PubMed
Related literature resources in PubMed
PubMed (OMIM)
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE

MedGen
C4016379[conceptid] (1)
MedGen
C4017275[trait identifier] AND "OMIM"[submitter] (5)
ClinVar
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE

MedGen
C4017275[conceptid] (1)
MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...