Congenital Sideroblastic Anemia-b-cell Immunodeficiency-periodic Fever-developmental Delay Syndrome

Description

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Sideroblastic Anemia-b-cell Immunodeficiency-periodic Fever-developmental Delay Syndrome

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Growth delay
  • Sensorineural hearing impairment
  • Anemia
  • Cardiomyopathy
  • Congestive heart failure

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Congenital Sideroblastic Anemia-b-cell Immunodeficiency-periodic Fever-developmental Delay Syndrome Is also known as sifd syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Sideroblastic Anemia-b-cell Immunodeficiency-periodic Fever-developmental Delay Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
TRNT1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TRNT1
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay.

By Centogene AG - the Rare Disease Company (Germany).

TRNT1
Specificity
100 %
Genes
100 %
Congenital sideroblastic anemia panel.

By Centogene AG - the Rare Disease Company (Germany).

SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7
Specificity
13 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Hereditary Sideroblastic Anemia.

By Asper Biogene Asper Biogene LLC (Estonia).

SLC19A2, PUS1, TRNT1, GLRX5, YARS2, SLC25A38, ALAS2, ABCB7, HSPA9
Specificity
12 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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