Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

Genes related to Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome

DNM2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome

Generalized hypotonia
Flexion contracture
Peripheral neuropathy
Respiratory insufficiency
Myopathy
Areflexia
Elevated serum creatine phosphokinase
Polyhydramnios
Small for gestational age
Decreased fetal movement

And another 6 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

Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome Is also known as myopathy, centronuclear, lethal, autosomal recessive, lethal congenital contracture syndrome type 5, lccs5.

Researches and researchers

Doctors, researchs, and experts related to Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome extracted from public data.

Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome Experts map

Current Researchs and researchers

ILLKIRCH-GRAFFENSTADEN — Dr Jocelyn F LAPORTE
Investigator of research project - Coordinator of research network
- Institution/s:
  — IGBMC - CNRS UMR 7104 - Inserm U 1258, Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Research area/topic::
  Role of dynamin 2 in muscle under normal and pathological conditions

Fetal Akinesia-cerebral And Retinal Hemorrhage Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc (United States). YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Dominant, Demyelinating. By Athena Diagnostics Inc (United States). YARS, LITAF, DNM2, EGR2, MPZ, PMP22 Specificity 17 % Genes 100 %
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % Genes 100 %
DNM2 DNA Sequencing Test. By Athena Diagnostics Inc (United States). DNM2 Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Demyelinating. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, FGD4, SBF2, SH3TC2, DNM2, EGR2, GJB1, MPZ, MTMR2, NDRG1, PMP22 Specificity 7 % Genes 100 %
Distal Myopathy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB Specificity 6 % Genes 100 %

You can get up to 116 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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